#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
DFFB	1677	broad.mit.edu	37	1	3800204	3800204	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:3800204T>A	ENST00000378209.3	+	7	1239	c.916T>A	c.(916-918)Tgc>Agc	p.C306S	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	306					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.C306S(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCACATTGTCTGCCATAAGAA	0.473																																						uc001alc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(916-918)TGC>AGC		DNA fragmentation factor, 40 kD, beta							172.0	167.0	169.0					1																	3800204		2203	4300	6503	SO:0001583	missense	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3800204T>A		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.916T>A	1.37:g.3800204T>A	ENSP00000367454:p.Cys306Ser					DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Missense_Mutation_p.C330S|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Missense_Mutation_p.C257S|DFFB_uc001ald.2_Missense_Mutation_p.C242S	p.C306S	NM_004402	NP_004393	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1239	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	306					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000378209.3	37	c.916T>A	CCDS52.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778675	0.90195	.	.	ENSG00000169598	ENST00000378209;ENST00000339350;ENST00000378206	T	0.56611	0.45	5.44	5.44	0.79542	Apoptosis, DNA fragmentation factor 40kDa (1);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80966	-0.1146	10	0.87932	D	0	-56.4158	14.6862	0.69052	0.0:0.0:0.0:1.0	.	330;242;306	B4DZS0;Q5SR21;O76075	.;.;DFFB_HUMAN	S	306;242;242	ENSP00000367454:C306S	ENSP00000343218:C242S	C	+	1	0	DFFB	3790064	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.370000	0.79589	2.066000	0.61787	0.533000	0.62120	TGC		PASS	0.473	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		103	34	103	34	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27100389	27100389	+	Splice_Site	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:27100389G>A	ENST00000324856.7	+	17	4472	c.4101G>A	c.(4099-4101)caG>caA	p.Q1367Q	ARID1A_ENST00000457599.2_Splice_Site_p.Q1367Q|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Splice_Site_p.Q984Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1367	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1367Q(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCAACAGCAGGTGAGGAGGG	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - coding silent(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4099-4101)CAG>CAA		AT rich interactive domain 1A isoform a							116.0	119.0	118.0					1																	27100389		2203	4300	6503	SO:0001630	splice_region_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100389G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4101+1G>A	1.37:g.27100389G>A						ARID1A_uc001bmt.1_Silent_p.Q1366Q|ARID1A_uc001bmu.1_Silent_p.Q1367Q|ARID1A_uc001bmw.1_Silent_p.Q984Q|ARID1A_uc001bmx.1_Silent_p.Q213Q|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.Q1367Q	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	17	4474	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1367			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4101G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087058	0.20390	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	T	0.64929	0.2643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62695	-0.6800	4	.	.	.	-6.4495	12.8301	0.57740	0.0748:0.0:0.9252:0.0	.	.	.	.	K	264	.	.	E	+	1	0	ARID1A	26972976	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.613000	0.61176	2.630000	0.89119	0.655000	0.94253	GAA		PASS	0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	Silent	98	39	98	39	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44070953	44070953	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:44070953G>T	ENST00000359947.4	+	18	3568	c.3228G>T	c.(3226-3228)gtG>gtT	p.V1076V	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.V1067V|PTPRF_ENST00000372414.3_Silent_p.V1076V|PTPRF_ENST00000422171.2_Silent_p.V424V|PTPRF_ENST00000372413.3_Silent_p.V1067V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1076	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1066V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACTCGTTTGTGCTGATGAACC	0.632																																						uc001cjr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3226-3228)GTG>GTT		protein tyrosine phosphatase, receptor type, F							58.0	63.0	61.0					1																	44070953		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44070953G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3228G>T	1.37:g.44070953G>T						PTPRF_uc001cjs.2_Silent_p.V1067V|PTPRF_uc001cju.2_Silent_p.V454V|PTPRF_uc009vwt.2_Silent_p.V636V|PTPRF_uc001cjv.2_Silent_p.V536V|PTPRF_uc001cjw.2_Silent_p.V302V	p.V1076V	NM_002840	NP_002831	P10586	PTPRF_HUMAN			18	3568	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1076			Extracellular (Potential).|Fibronectin type-III 8.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3228G>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.902|9.902	1.207063|1.207063	0.22205|0.22205	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.31|5.31	3.35|3.35	0.38373|0.38373	.|.	.|.	.|.	.|.	.|.	T|T	0.59756|0.59756	0.2217|0.2217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54990|0.54990	-0.8210|-0.8210	4|4	.|.	.|.	.|.	.|.	10.1554|10.1554	0.42820|0.42820	0.0719:0.2536:0.6745:0.0|0.0719:0.2536:0.6745:0.0	.|.	.|.	.|.	.|.	S|F	449;490|722	.|.	.|.	A|C	+|+	1|2	0|0	PTPRF|PTPRF	43843540|43843540	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.916000|0.916000	0.54674|0.54674	0.674000|0.674000	0.25218|0.25218	0.690000|0.690000	0.31570|0.31570	0.591000|0.591000	0.81541|0.81541	GCT|TGC		PASS	0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			57	19	57	19	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67816672	67816672	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:67816672C>T	ENST00000262345.1	+	9	1798	c.1158C>T	c.(1156-1158)gtC>gtT	p.V386V	IL12RB2_ENST00000371000.1_Silent_p.V386V|IL12RB2_ENST00000541374.1_Silent_p.V386V|IL12RB2_ENST00000544434.1_Silent_p.V386V	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	386	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.V386V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGACCACAGTCATTCCTAGAA	0.493																																						uc001ddu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1156-1158)GTC>GTT		interleukin 12 receptor, beta 2 precursor							134.0	117.0	123.0					1																	67816672		2203	4300	6503	SO:0001819	synonymous_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67816672C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1158C>T	1.37:g.67816672C>T						IL12RB2_uc010oqi.1_Silent_p.V386V|IL12RB2_uc010oqj.1_Silent_p.V386V|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.V386V|IL12RB2_uc010oqm.1_Silent_p.V386V|IL12RB2_uc010oqn.1_RNA	p.V386V	NM_001559	NP_001550	Q99665	I12R2_HUMAN			9	1798	+			386			Fibronectin type-III 3.|Extracellular (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	c.1158C>T	CCDS638.1																																																																																				PASS	0.493	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		86	24	86	24	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038477	75038477	+	Missense_Mutation	SNP	C	C	A	rs200414564		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:75038477C>A	ENST00000326665.5	-	14	3135	c.2917G>T	c.(2917-2919)Gca>Tca	p.A973S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		973	Glu-rich.							p.A973S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCAAGAATTGCCTCTTCAGAA	0.517																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2917-2919)GCA>TCA		hypothetical protein LOC127254		C	SER/ALA	0,4406		0,0,2203	136.0	125.0	128.0		2917	3.0	0.0	1		128	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C1orf173	NM_001002912.4	99	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	possibly-damaging	973/1531	75038477	2,13004	2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038477C>A																												ENST00000326665.5:c.2917G>T	1.37:g.75038477C>A	ENSP00000322609:p.Ala973Ser						p.A973S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3136	-			973			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2917G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018404	0.75275	0.0	2.33E-4	ENSG00000178965	ENST00000326665	T	0.18016	2.24	4.87	2.95	0.34219	.	.	.	.	.	T	0.09202	0.0227	L	0.40543	1.245	0.31967	N	0.60765	P	0.50156	0.932	P	0.50659	0.647	T	0.15065	-1.0450	9	0.24483	T	0.36	-1.3337	10.5312	0.44977	0.0:0.8342:0.0:0.1658	.	973	Q5RHP9	CA173_HUMAN	S	973	ENSP00000322609:A973S	ENSP00000322609:A973S	A	-	1	0	C1orf173	74811065	0.000000	0.05858	0.003000	0.11579	0.456000	0.32438	0.988000	0.29616	0.450000	0.26774	0.462000	0.41574	GCA		PASS	0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			48	18	48	18	---	---	---	---
CDC7	8317	broad.mit.edu	37	1	91979565	91979565	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:91979565C>T	ENST00000428239.1	+	8	1142	c.883C>T	c.(883-885)Cac>Tac	p.H295Y	CDC7_ENST00000430031.2_Missense_Mutation_p.H267Y|CDC7_ENST00000234626.6_Missense_Mutation_p.H295Y	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H295Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TTTCAATATACACAGCTCCAT	0.373																																						uc001doe.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(883-885)CAC>TAC		cell division cycle 7							105.0	102.0	103.0					1																	91979565		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91979565C>T	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.883C>T	1.37:g.91979565C>T	ENSP00000393139:p.His295Tyr					CDC7_uc001dof.2_Missense_Mutation_p.H295Y|CDC7_uc010osw.1_Missense_Mutation_p.H267Y|CDC7_uc009wdc.2_Missense_Mutation_p.H295Y|CDC7_uc009wdd.2_5'Flank	p.H295Y	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	8	1048	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	295			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.883C>T	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483999	0.26598	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.49432	0.78;0.94;0.94	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.309061	0.40064	N	0.001199	T	0.17323	0.0416	N	0.12182	0.205	0.31404	N	0.67627	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.07849	-1.0751	10	0.52906	T	0.07	-18.742	13.9063	0.63839	0.0:0.922:0.0:0.078	.	267;295	B7Z5H7;O00311	.;CDC7_HUMAN	Y	267;295;295	ENSP00000407477:H267Y;ENSP00000234626:H295Y;ENSP00000393139:H295Y	ENSP00000234626:H295Y	H	+	1	0	CDC7	91752153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.458000	0.35223	2.805000	0.96524	0.460000	0.39030	CAC		PASS	0.373	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		36	18	36	18	---	---	---	---
S1PR1	1901	broad.mit.edu	37	1	101704795	101704795	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:101704795C>A	ENST00000305352.6	+	2	630	c.255C>A	c.(253-255)ggC>ggA	p.G85G	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	85					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.G85G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ATTTTATTGGCAATCTGGCCC	0.493											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dud.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(253-255)GGC>GGA		sphingosine-1-phosphate receptor 1							89.0	92.0	91.0					1																	101704795		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704795C>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.255C>A	1.37:g.101704795C>A			OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Silent_p.G85G	p.G85G	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	769	+			85			Helical; Name=2; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.255C>A	CCDS777.1																																																																																				PASS	0.493	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		50	27	50	27	---	---	---	---
HSD3B2	3284	broad.mit.edu	37	1	119964499	119964499	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:119964499A>G	ENST00000543831.1	+	4	624	c.375A>G	c.(373-375)atA>atG	p.I125M	HSD3B2_ENST00000369416.3_Missense_Mutation_p.I125M	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	125					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.I125M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CCAGTAGCATAGAGGTAGCCG	0.537																																						uc001ehs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(373-375)ATA>ATG		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						131.0	130.0	130.0					1																	119964499		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964499A>G	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.375A>G	1.37:g.119964499A>G	ENSP00000445122:p.Ile125Met					HSD3B2_uc001eht.2_Missense_Mutation_p.I125M|HSD3B2_uc001ehu.2_Intron	p.I125M	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1148	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	125					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.375A>G	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	14.14	2.447368	0.43429	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.88664	-2.41;-2.41;-2.41	4.1	-4.13	0.03904	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.528419	0.20787	N	0.085687	T	0.75715	0.3887	L	0.45352	1.415	0.24562	N	0.993963	P	0.46064	0.872	P	0.54401	0.751	T	0.70252	-0.4923	9	.	.	.	-15.8981	0.5417	0.00646	0.2825:0.1336:0.3023:0.2816	.	125	P26439	3BHS2_HUMAN	M	125	ENSP00000445122:I125M;ENSP00000388292:I125M;ENSP00000358424:I125M	.	I	+	3	3	HSD3B2	119766022	0.005000	0.15991	0.013000	0.15412	0.559000	0.35586	-1.205000	0.03014	-0.707000	0.05022	0.248000	0.18094	ATA		PASS	0.537	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		101	29	101	29	---	---	---	---
TDRKH	11022	broad.mit.edu	37	1	151751235	151751235	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:151751235G>A	ENST00000368822.1	-	6	1442	c.809C>T	c.(808-810)tCc>tTc	p.S270F	TDRKH_ENST00000368825.3_Missense_Mutation_p.S225F|TDRKH_ENST00000368827.6_Missense_Mutation_p.S270F|TDRKH_ENST00000458431.2_Missense_Mutation_p.S270F|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.S266F|TDRKH_ENST00000368824.3_Missense_Mutation_p.S270F|TDRKH_ENST00000440583.2_Missense_Mutation_p.S46F			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	270					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.S270F(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCTCCCAGGAACCTTCCTT	0.517																																						uc009wnb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(808-810)TCC>TTC		tudor and KH domain containing isoform a							65.0	65.0	65.0					1																	151751235		1979	4167	6146	SO:0001583	missense	11022						RNA binding	g.chr1:151751235G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.809C>T	1.37:g.151751235G>A	ENSP00000357812:p.Ser270Phe					TDRKH_uc001eyy.2_Missense_Mutation_p.S46F|TDRKH_uc001ezb.3_Missense_Mutation_p.S266F|TDRKH_uc001ezc.3_Missense_Mutation_p.S225F|TDRKH_uc001eza.3_Missense_Mutation_p.S270F|TDRKH_uc001ezd.3_Missense_Mutation_p.S270F|TDRKH_uc010pdn.1_Missense_Mutation_p.S46F	p.S270F	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		6	991	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		270					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.809C>T	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683993	0.47991	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.48	5.48	0.80851	.	1.368430	0.04251	N	0.338715	T	0.28300	0.0699	N	0.24115	0.695	0.28104	N	0.931283	B;B;P	0.37955	0.009;0.009;0.612	B;B;B	0.33890	0.006;0.004;0.172	T	0.27157	-1.0082	10	0.59425	D	0.04	-6.0552	14.7347	0.69406	0.0:0.0:1.0:0.0	.	225;266;270	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	F	270;225;270;266;270;270;46	ENSP00000357819:S270F;ENSP00000357817:S225F;ENSP00000357815:S270F;ENSP00000357813:S266F;ENSP00000357812:S270F;ENSP00000395718:S270F;ENSP00000416645:S46F	ENSP00000357812:S270F	S	-	2	0	TDRKH	150017859	0.998000	0.40836	1.000000	0.80357	0.847000	0.48162	2.438000	0.44837	2.861000	0.98227	0.650000	0.86243	TCC		PASS	0.517	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		39	68	39	68	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152081071	152081071	+	Missense_Mutation	SNP	C	C	G	rs199741439	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:152081071C>G	ENST00000368804.1	-	2	4621	c.4622G>C	c.(4621-4623)cGc>cCc	p.R1541P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1541	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1541P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCGGCGCAGCTGCTG	0.622																																						uc001ezp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4621-4623)CGC>CCC		trichohyalin							40.0	43.0	42.0					1																	152081071		1870	4096	5966	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081071C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4622G>C	1.37:g.152081071C>G	ENSP00000357794:p.Arg1541Pro					TCHH_uc009wne.1_Missense_Mutation_p.R1541P	p.R1541P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4622	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1541			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4622G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	11.52	1.662861	0.29515	.	.	ENSG00000159450	ENST00000368804	T	0.09350	2.99	3.5	2.57	0.30868	.	.	.	.	.	T	0.08133	0.0203	L	0.49126	1.545	0.09310	N	1	D	0.67145	0.996	P	0.58454	0.839	T	0.19582	-1.0301	9	0.33141	T	0.24	.	5.7439	0.18110	0.0:0.7535:0.0:0.2465	.	1541	Q07283	TRHY_HUMAN	P	1541	ENSP00000357794:R1541P	ENSP00000357794:R1541P	R	-	2	0	TCHH	150347695	0.000000	0.05858	0.029000	0.17559	0.630000	0.37929	-0.874000	0.04210	0.820000	0.34516	0.454000	0.30748	CGC		PASS	0.622	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		22	25	22	25	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155931629	155931629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:155931629C>A	ENST00000361247.4	-	11	1390	c.1291G>T	c.(1291-1293)Gag>Tag	p.E431*	ARHGEF2_ENST00000368316.1_Nonsense_Mutation_p.E403*|ARHGEF2_ENST00000313695.7_Nonsense_Mutation_p.E403*|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Nonsense_Mutation_p.E432*|ARHGEF2_ENST00000313667.4_Nonsense_Mutation_p.E430*|ARHGEF2_ENST00000462460.2_Nonsense_Mutation_p.E476*	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	431	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E403*(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAAATACCCTCGTCCACATTG	0.632																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1291-1293)GAG>TAG		Rho/Rac guanine nucleotide exchange factor 2							73.0	73.0	73.0					1																	155931629		2203	4300	6503	SO:0001587	stop_gained	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931629C>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1291G>T	1.37:g.155931629C>A	ENSP00000354837:p.Glu431*					ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.E403*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.E430*|ARHGEF2_uc001fmu.2_Nonsense_Mutation_p.E475*|ARHGEF2_uc010pgt.1_Nonsense_Mutation_p.E404*|ARHGEF2_uc010pgu.1_Nonsense_Mutation_p.E476*	p.E431*	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			11	1409	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		431			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Nonsense_Mutation	SNP	ENST00000361247.4	37	c.1291G>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589290	0.96590	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	.	.	.	4.86	3.95	0.45737	.	0.155125	0.30159	N	0.010263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-31.2352	7.0728	0.25187	0.0912:0.1764:0.7323:0.0	.	.	.	.	X	403;431;432;403;476;404;430	.	ENSP00000314787:E430X	E	-	1	0	ARHGEF2	154198253	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	0.913000	0.28611	1.411000	0.46957	-0.197000	0.12766	GAG		PASS	0.632	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		4	162	4	162	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158631100	158631100	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:158631100C>T	ENST00000368147.4	-	18	2744	c.2564G>A	c.(2563-2565)aGg>aAg	p.R855K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	855					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.R855K(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)					TTTGTTTCCCCTTTCTGTTAT	0.443																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2563-2565)AGG>AAG		spectrin, alpha, erythrocytic 1							277.0	276.0	277.0					1																	158631100		1956	4146	6102	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.chr1:158631100C>T	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.2564G>A	1.37:g.158631100C>T	ENSP00000357129:p.Arg855Lys						p.R855K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			18	2763	-	all_hematologic(112;0.0378)		855			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2564G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	4.083	0.013326	0.07912	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	4.81	1.87	0.25490	.	.	.	.	.	T	0.12987	0.0315	L	0.42245	1.32	0.29619	N	0.846369	B	0.02656	0.0	B	0.09377	0.004	T	0.30592	-0.9973	9	0.05351	T	0.99	.	8.7512	0.34616	0.0:0.6778:0.0:0.3222	.	855	P02549	SPTA1_HUMAN	K	855	ENSP00000357130:R855K;ENSP00000357129:R855K	ENSP00000357129:R855K	R	-	2	0	SPTA1	156897724	0.995000	0.38212	0.997000	0.53966	0.775000	0.43874	0.964000	0.29306	0.638000	0.30545	0.650000	0.86243	AGG		PASS	0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		113	197	113	197	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159043275	159043275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:159043275G>T	ENST00000368130.4	-	2	303	c.15C>A	c.(13-15)taC>taA	p.Y5*	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	5	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.Y5*(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GTATCTCCTTGTATTTACTCT	0.378																																						uc001ftj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(13-15)TAC>TAA		absent in melanoma 2							120.0	120.0	120.0					1																	159043275		2203	4300	6503	SO:0001587	stop_gained	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159043275G>T	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.15C>A	1.37:g.159043275G>T	ENSP00000357112:p.Tyr5*						p.Y5*	NM_004833	NP_004824	O14862	AIM2_HUMAN			2	260	-	all_hematologic(112;0.0429)		5			DAPIN.		A8K7M7|Q5T3V9|Q96FG9	Nonsense_Mutation	SNP	ENST00000368130.4	37	c.15C>A	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507330	0.85282	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	.	.	.	3.66	-7.33	0.01431	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4501	7.8034	0.29187	0.6717:0.0:0.2015:0.1268	.	.	.	.	X	5	.	ENSP00000357112:Y5X	Y	-	3	2	AIM2	157309899	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-1.349000	0.02627	-1.782000	0.01275	-0.459000	0.05422	TAC		PASS	0.378	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		99	155	99	155	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160261286	160261286	+	Splice_Site	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:160261286T>C	ENST00000241704.7	-	31	3488	c.3259A>G	c.(3259-3261)Atg>Gtg	p.M1087V	COPA_ENST00000368069.3_Splice_Site_p.M1096V	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1087					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.M1096V(1)|p.M1087V(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGGCTGCCATCTGGTGGACA	0.458											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3259-3261)ATG>GTG		coatomer protein complex, subunit alpha isoform							68.0	62.0	64.0					1																	160261286		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261286T>C	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3259-1A>G	1.37:g.160261286T>C			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_uc001fvv.3_Missense_Mutation_p.M1096V	p.M1087V	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		31	3653	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1087					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.3259A>G	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202660	0.58234	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.44482	0.92;0.92	5.97	5.97	0.96955	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.84846	2.72	0.80722	D	1	B;B	0.26258	0.145;0.068	B;B	0.24006	0.05;0.034	T	0.46911	-0.9157	10	0.87932	D	0	-28.5002	14.4129	0.67128	0.0:0.0:0.0:1.0	.	1087;1096	P53621;P53621-2	COPA_HUMAN;.	V	1096;1087	ENSP00000357048:M1096V;ENSP00000241704:M1087V	ENSP00000241704:M1087V	M	-	1	0	COPA	158527910	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.320000	0.79064	2.288000	0.76882	0.533000	0.62120	ATG		PASS	0.458	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Missense_Mutation	32	44	32	44	---	---	---	---
DPT	1805	broad.mit.edu	37	1	168698149	168698149	+	Silent	SNP	C	C	G	rs79594970	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:168698149C>G	ENST00000367817.3	-	1	353	c.264G>C	c.(262-264)acG>acC	p.T88T		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	88	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.T88T(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					ACCAGCACTCCGTGGGTTCCC	0.587																																						uc001gfp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(262-264)ACG>ACC		dermatopontin precursor							131.0	111.0	117.0					1																	168698149		2203	4300	6503	SO:0001819	synonymous_variant	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698149C>G	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.264G>C	1.37:g.168698149C>G							p.T88T	NM_001937	NP_001928	Q07507	DERM_HUMAN			1	280	-	all_hematologic(923;0.208)		88			2 X 53-55 AA tandem repeats.|1-2.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Silent	SNP	ENST00000367817.3	37	c.264G>C	CCDS1275.1																																																																																				PASS	0.587	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		47	113	47	113	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171509342	171509342	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:171509342C>T	ENST00000338920.4	+	16	2968	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R913W|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R913W|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R911W	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	911					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R913W(2)									TCAAGAGGAGCGGATTTCAGC	0.453																																						uc010pmg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2731-2733)CGG>TGG		HBxAg transactivated protein 2							68.0	70.0	70.0					1																	171509342		2201	4300	6501	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509342C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2731C>T	1.37:g.171509342C>T	ENSP00000343629:p.Arg911Trp					BAT2L2_uc010pmh.1_5'UTR	p.R911W	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	2997	+			911					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2731C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786127	0.31593	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.69	4.76	0.60689	.	0.350263	0.20788	N	0.085678	T	0.02929	0.0087	N	0.19112	0.55	0.22112	N	0.999358	D	0.60160	0.987	P	0.46825	0.528	T	0.30179	-0.9987	10	0.66056	D	0.02	.	8.7924	0.34859	0.2665:0.6641:0.0:0.0694	.	911	Q9Y520-4	.	W	913;912;911;913;911;668;670	ENSP00000375928:R913W;ENSP00000410219:R911W;ENSP00000356716:R913W;ENSP00000343629:R911W	ENSP00000343629:R911W	R	+	1	2	PRRC2C	169775966	0.976000	0.34144	0.989000	0.46669	0.916000	0.54674	2.300000	0.43620	1.384000	0.46424	0.644000	0.83932	CGG		PASS	0.453	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		33	54	33	54	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196205139	196205139	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:196205139G>A	ENST00000294725.9	-	27	4188	c.3273C>T	c.(3271-3273)acC>acT	p.T1091T	KCNT2_ENST00000609185.1_Silent_p.T1024T|KCNT2_ENST00000367433.5_Silent_p.T1067T|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.T1025T|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1091					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.T1091T(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCTATTCTGGTATCTGGAG	0.313																																						uc001gtd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(3271-3273)ACC>ACT		potassium channel, subfamily T, member 2							210.0	222.0	218.0					1																	196205139		2203	4297	6500	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196205139G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3273C>T	1.37:g.196205139G>A						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.T1024T|KCNT2_uc001gtf.1_Silent_p.T1067T|KCNT2_uc001gtg.1_RNA	p.T1091T	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			27	3333	-			1091			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.3273C>T	CCDS1384.1																																																																																				PASS	0.313	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		180	293	180	293	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196953257	196953257	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:196953257C>T	ENST00000256785.4	+	3	529	c.420C>T	c.(418-420)tgC>tgT	p.C140C	CFHR5_ENST00000367414.5_Silent_p.C164C			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	140	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.C140C(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CTCCCATATGCAGCTTCACTA	0.333																																						uc001gts.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(418-420)TGC>TGT		complement factor H-related 5 precursor							75.0	68.0	71.0					1																	196953257		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196953257C>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.420C>T	1.37:g.196953257C>T							p.C140C	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			3	548	+			140			Sushi 2.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.420C>T	CCDS1387.1																																																																																				PASS	0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		52	101	52	101	---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201187690	201187690	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:201187690G>A	ENST00000335211.4	+	18	9932	c.9802G>A	c.(9802-9804)Ggc>Agc	p.G3268S	IGFN1_ENST00000295591.8_Missense_Mutation_p.G428S	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	811						nucleus (GO:0005634)|Z disc (GO:0030018)		p.G3268S(1)|p.G428S(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGTGCGGCAGGGCTGTCAGTA	0.627																																						uc001gwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1282-1284)GGC>AGC		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							73.0	65.0	68.0					1																	201187690		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201187690G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9802G>A	1.37:g.201187690G>A	ENSP00000334714:p.Gly3268Ser					IGFN1_uc001gwb.2_RNA	p.G428S	NM_178275	NP_840059					7	2054	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.1282G>A	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.716683|5.716683	0.96830|0.96830	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.61742	.|0.08;0.08	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.064498|0.064498	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.79197|0.79197	0.4405|0.4405	M|M	0.86864|0.86864	2.845|2.845	0.58432|0.58432	D|D	0.999995|0.999995	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.83253|0.83253	-0.0052|-0.0052	6|10	.|0.66056	.|D	.|0.02	.|.	16.3441|16.3441	0.83117|0.83117	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3268	.|F8WAI1	.|.	E|S	685|3268;428	.|ENSP00000334714:G3268S;ENSP00000295591:G428S	.|ENSP00000295591:G428S	G|G	+|+	2|1	0|0	IGFN1|IGFN1	199454313|199454313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.223000|0.223000	0.24884|0.24884	9.116000|9.116000	0.94341|0.94341	2.356000|2.356000	0.79943|0.79943	0.561000|0.561000	0.74099|0.74099	GGG|GGC		PASS	0.627	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		19	25	19	25	---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213415226	213415226	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:213415226G>C	ENST00000366960.3	+	11	2557	c.2407G>C	c.(2407-2409)Gga>Cga	p.G803R	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G791R|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G506R|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G591R	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	803	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.G803R(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCAAGGACTTGGAGTGGTTGA	0.418																																						uc010ptr.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(2407-2409)GGA>CGA		ribosomal protein S6 kinase, 52kDa, polypeptide							125.0	127.0	126.0					1																	213415226		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415226G>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2407G>C	1.37:g.213415226G>C	ENSP00000355927:p.Gly803Arg					RPS6KC1_uc001hkd.2_Missense_Mutation_p.G791R|RPS6KC1_uc010pts.1_Missense_Mutation_p.G591R|RPS6KC1_uc010ptt.1_Missense_Mutation_p.G591R|RPS6KC1_uc010ptu.1_Missense_Mutation_p.G622R|RPS6KC1_uc010ptv.1_Missense_Mutation_p.G338R|RPS6KC1_uc001hke.2_Missense_Mutation_p.G622R	p.G803R	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2566	+			803			ATP (By similarity).|Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2407G>C	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714774	0.15306	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.42900	1.27;1.27;1.28;0.96	5.91	2.78	0.32641	Protein kinase, catalytic domain (1);	0.602378	0.17995	N	0.155071	T	0.37461	0.1004	M	0.63428	1.95	0.29540	N	0.852134	B;B;B	0.22683	0.073;0.018;0.018	B;B;B	0.24541	0.054;0.027;0.027	T	0.37911	-0.9685	10	0.59425	D	0.04	-50.9992	5.8211	0.18528	0.0707:0.2505:0.5493:0.1295	.	591;803;791	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	R	591;803;791;506	ENSP00000442306:G591R;ENSP00000355927:G803R;ENSP00000355926:G791R;ENSP00000439282:G506R	ENSP00000355926:G791R	G	+	1	0	RPS6KC1	211481849	0.974000	0.33945	0.026000	0.17262	0.669000	0.39330	0.545000	0.23268	0.295000	0.22570	0.655000	0.94253	GGA		PASS	0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		75	123	75	123	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214830428	214830428	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:214830428A>G	ENST00000366955.3	+	18	8806	c.8638A>G	c.(8638-8640)Atg>Gtg	p.M2880V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2976	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.M2880V(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCTAAAGAGATGTTAGAGAC	0.418																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(8638-8640)ATG>GTG		centromere protein F							172.0	164.0	167.0					1																	214830428		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214830428A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8638A>G	1.37:g.214830428A>G	ENSP00000355922:p.Met2880Val						p.M2880V	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	18	8812	+			2976			Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.8638A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	9.689	1.151389	0.21371	.	.	ENSG00000117724	ENST00000366955	T	0.03496	3.91	5.45	5.45	0.79879	.	0.157511	0.30043	N	0.010552	T	0.05547	0.0146	M	0.64997	1.995	0.27199	N	0.960212	P	0.40083	0.702	B	0.30495	0.116	T	0.22977	-1.0201	10	0.42905	T	0.14	.	15.8249	0.78690	1.0:0.0:0.0:0.0	.	2976	P49454	CENPF_HUMAN	V	2880	ENSP00000355922:M2880V	ENSP00000355922:M2880V	M	+	1	0	CENPF	212897051	1.000000	0.71417	0.997000	0.53966	0.161000	0.22273	4.386000	0.59620	2.194000	0.70268	0.533000	0.62120	ATG		PASS	0.418	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		90	138	90	138	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215824074	215824074	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:215824074G>T	ENST00000307340.3	-	65	14589	c.14203C>A	c.(14203-14205)Cca>Aca	p.P4735T	USH2A_ENST00000366943.2_Missense_Mutation_p.P4735T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4735	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P4735T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCTTCTGGTGGGGCTGGC	0.547										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14203-14205)CCA>ACA		usherin isoform B							120.0	120.0	120.0					1																	215824074		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215824074G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14203C>A	1.37:g.215824074G>T	ENSP00000305941:p.Pro4735Thr	HNSCC(13;0.011)					p.P4735T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14590	-			4735			Fibronectin type-III 33.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14203C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109390	0.77096	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82167	-1.58;-1.58	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	U	0.000731	D	0.93439	0.7907	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94211	0.7459	10	0.87932	D	0	.	19.9023	0.96990	0.0:0.0:1.0:0.0	.	4735	O75445	USH2A_HUMAN	T	4735	ENSP00000305941:P4735T;ENSP00000355910:P4735T	ENSP00000305941:P4735T	P	-	1	0	USH2A	213890697	1.000000	0.71417	0.949000	0.38748	0.305000	0.27757	8.003000	0.88520	2.693000	0.91896	0.650000	0.86243	CCA		PASS	0.547	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		127	206	127	206	---	---	---	---
SDE2	163859	broad.mit.edu	37	1	226176080	226176080	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:226176080C>G	ENST00000272091.7	-	6	669	c.651G>C	c.(649-651)atG>atC	p.M217I		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	217								p.M205I(1)|p.M217I(1)									CTAGTCCCTCCATGCCCAACC	0.483																																						uc001hpu.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(649-651)ATG>ATC		hypothetical protein LOC163859							71.0	72.0	72.0					1																	226176080		1940	4146	6086	SO:0001583	missense	163859							g.chr1:226176080C>G	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.651G>C	1.37:g.226176080C>G	ENSP00000272091:p.Met217Ile					C1orf55_uc001hpv.2_Missense_Mutation_p.M217I	p.M217I	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			6	704	-	Breast(184;0.197)		217					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.651G>C	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755864	0.49362	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.48836	0.94;0.8	5.87	4.91	0.64330	.	0.539885	0.23277	N	0.049951	T	0.42517	0.1206	L	0.52759	1.655	0.38781	D	0.954761	B;B	0.23442	0.041;0.085	B;B	0.20955	0.032;0.03	T	0.32771	-0.9894	10	0.30078	T	0.28	-6.8385	14.5199	0.67844	0.0:0.8539:0.1461:0.0	.	205;217	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	I	217;205;122	ENSP00000272091:M217I;ENSP00000355782:M122I	ENSP00000272091:M217I	M	-	3	0	C1orf55	224242703	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	3.270000	0.51600	2.780000	0.95670	0.655000	0.94253	ATG		PASS	0.483	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		30	48	30	48	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236902788	236902789	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:236902788_236902789AG>TT	ENST00000366578.4	+	10	1229_1230	c.1063_1064AG>TT	c.(1063-1065)AGc>TTc	p.S355F	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S355F|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	355					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.S355I(1)|p.S355C(1)|p.S355F(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTGCGGATCAGCAACCGTCCT	0.604																																						uc001hyf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(1)	5						c.(1063-1065)AGC>TGC|c.(1063-1065)AGC>ATC		actinin, alpha 2																																				SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902788A>T|g.chr1:236902789G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	Exception_encountered	1.37:g.236902788_236902789delinsTT	ENSP00000355537:p.Ser355Phe					ACTN2_uc001hyg.2_Missense_Mutation_p.S147C|ACTN2_uc009xgi.1_Missense_Mutation_p.S355C|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.S43C|ACTN2_uc001hyg.2_Missense_Mutation_p.S147I|ACTN2_uc009xgi.1_Missense_Mutation_p.S355I|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.S43I	p.S355C|p.S355I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1267|1268	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	355			Spectrin 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1063A>T|c.1064G>T	CCDS1613.1																																																																																				PASS	0.604	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		24	48|46	24	46	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237995872	237995872	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:237995872G>T	ENST00000366574.2	+	105	15146	c.14829G>T	c.(14827-14829)atG>atT	p.M4943I	RYR2_ENST00000360064.6_Missense_Mutation_p.M4949I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4927I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4943					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.M4941I(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)			TCTGGAAGATGTATCAAGAAA	0.378																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14827-14829)ATG>ATT		cardiac muscle ryanodine receptor							94.0	90.0	91.0					1																	237995872		1862	4131	5993	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.chr1:237995872G>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.14829G>T	1.37:g.237995872G>T	ENSP00000355533:p.Met4943Ile					RYR2_uc010pyb.1_3'UTR	p.M4943I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		105	14949	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4943					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14829G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097630	0.76870	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96967	-4.19;-4.16;-4.18	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	D	0.98121	0.9380	M	0.86420	2.815	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	D	0.98808	1.0742	10	0.72032	D	0.01	-21.0446	18.8364	0.92164	0.0:0.0:1.0:0.0	.	4943	Q92736	RYR2_HUMAN	I	4943;4949;4927	ENSP00000355533:M4943I;ENSP00000353174:M4949I;ENSP00000443798:M4927I	ENSP00000353174:M4949I	M	+	3	0	RYR2	236062495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.208000	0.95075	2.677000	0.91161	0.655000	0.94253	ATG		PASS	0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		23	40	23	40	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752419	247752419	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:247752419T>A	ENST00000320065.1	+	1	758	c.758T>A	c.(757-759)aTc>aAc	p.I253N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I253N(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			gtggtcaccatcttttatgga	0.507																																						uc010pyy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)ATC>AAC		olfactory receptor, family 2, subfamily G,							139.0	123.0	129.0					1																	247752419		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752419T>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.758T>A	1.37:g.247752419T>A	ENSP00000326349:p.Ile253Asn						p.I253N	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	758	+	all_cancers(71;3.24e-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)		253			Helical; Name=6; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.758T>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284890	0.40394	.	.	ENSG00000177489	ENST00000320065	T	0.00211	8.54	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37955	U	0.001878	T	0.00637	0.0021	M	0.90145	3.09	0.32311	N	0.563712	D	0.57899	0.981	D	0.67725	0.953	T	0.15549	-1.0433	10	0.87932	D	0	.	11.4683	0.50252	0.0:0.0:0.0:1.0	.	253	Q8NGZ5	OR2G2_HUMAN	N	253	ENSP00000326349:I253N	ENSP00000326349:I253N	I	+	2	0	OR2G2	245819042	0.327000	0.24678	0.976000	0.42696	0.038000	0.13279	4.318000	0.59190	1.789000	0.52484	0.481000	0.45027	ATC		PASS	0.507	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			58	83	58	83	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248262842	248262842	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:248262842C>A	ENST00000358120.2	+	2	310	c.165C>A	c.(163-165)caC>caA	p.H55Q	OR2L13_ENST00000366478.2_Missense_Mutation_p.H55Q			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H55Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCGTCTCCACACACCGATGT	0.517																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(163-165)CAC>CAA		olfactory receptor, family 2, subfamily L,							234.0	217.0	223.0					1																	248262842		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262842C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.165C>A	1.37:g.248262842C>A	ENSP00000350836:p.His55Gln						p.H55Q	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	502	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		55			Cytoplasmic (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.165C>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	5.952	0.359563	0.11239	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.21191	2.02;2.02	4.07	-1.84	0.07809	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000334	T	0.16471	0.0396	M	0.64404	1.975	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.18147	-1.0346	10	0.72032	D	0.01	.	3.5721	0.07921	0.2721:0.3946:0.0:0.3333	.	55	Q8N349	OR2LD_HUMAN	Q	55	ENSP00000355434:H55Q;ENSP00000350836:H55Q	ENSP00000350836:H55Q	H	+	3	2	OR2L13	246329465	0.001000	0.12720	0.001000	0.08648	0.142000	0.21351	-0.202000	0.09451	-0.201000	0.10284	-0.157000	0.13467	CAC		PASS	0.517	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		92	144	92	144	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436680	248436680	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:248436680C>A	ENST00000318021.2	-	1	458	c.437G>T	c.(436-438)tGt>tTt	p.C146F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C146F(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGGAGCCAACACGACATGGT	0.577																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(436-438)TGT>TTT		olfactory receptor, family 2, subfamily T,							148.0	140.0	142.0					1																	248436680		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436680C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.437G>T	1.37:g.248436680C>A	ENSP00000324687:p.Cys146Phe						p.C146F	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	437	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		146			Helical; Name=4; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.437G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	1.058	-0.673690	0.03403	.	.	ENSG00000177212	ENST00000318021	T	0.37752	1.18	2.7	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.236656	0.21793	U	0.069040	T	0.43433	0.1247	M	0.79475	2.455	0.09310	N	1	B	0.26775	0.159	B	0.32864	0.154	T	0.47045	-0.9147	10	0.87932	D	0	.	14.0285	0.64601	0.0:0.1611:0.8388:0.0	.	146	Q8NG76	O2T33_HUMAN	F	146	ENSP00000324687:C146F	ENSP00000324687:C146F	C	-	2	0	OR2T33	246503303	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.176000	0.09811	0.004000	0.14682	-2.089000	0.00373	TGT		PASS	0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		58	229	58	229	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33623484	33623484	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:33623484A>G	ENST00000404816.2	+	34	5391	c.5038A>G	c.(5038-5040)Aag>Gag	p.K1680E	LTBP1_ENST00000354476.3_Missense_Mutation_p.K1681E|LTBP1_ENST00000407925.1_Missense_Mutation_p.K1354E|LTBP1_ENST00000418533.2_Missense_Mutation_p.K1312E|LTBP1_ENST00000272273.5_Missense_Mutation_p.K578E|LTBP1_ENST00000404525.1_Missense_Mutation_p.K1301E|LTBP1_ENST00000390003.4_Missense_Mutation_p.K1355E|LTBP1_ENST00000402934.1_Missense_Mutation_p.K1299E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1680	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.K1681E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAAGAATGCCAAGTGCATTAA	0.443																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(5041-5043)AAG>GAG		latent transforming growth factor beta binding							168.0	124.0	139.0					2																	33623484		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33623484A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.5038A>G	2.37:g.33623484A>G	ENSP00000386043:p.Lys1680Glu					LTBP1_uc002rot.2_Missense_Mutation_p.K1355E|LTBP1_uc002rou.2_Missense_Mutation_p.K1354E|LTBP1_uc002rov.2_Missense_Mutation_p.K1301E|LTBP1_uc010ymz.1_Missense_Mutation_p.K1312E|LTBP1_uc010yna.1_Missense_Mutation_p.K1259E|LTBP1_uc010ynb.1_Missense_Mutation_p.K578E	p.K1681E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			34	5041	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1680			EGF-like 18; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.5041A>G	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410263	0.62399	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.48	5.48	0.80851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91188	0.7224	N	0.10733	0.035	0.45161	D	0.998177	D;D;D;B;D;D;D	0.76494	0.987;0.998;0.998;0.041;0.998;0.999;0.998	D;D;D;B;D;D;D	0.85130	0.951;0.973;0.99;0.113;0.962;0.997;0.98	D	0.92709	0.6181	9	0.46703	T	0.11	.	15.8734	0.79141	1.0:0.0:0.0:0.0	.	578;1680;1312;1301;1354;1355;1681	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	E	1680;1681;1355;1312;1299;1301;1354;578	ENSP00000386043:K1680E;ENSP00000346467:K1681E;ENSP00000374653:K1355E;ENSP00000393057:K1312E;ENSP00000384373:K1299E;ENSP00000385359:K1301E;ENSP00000384091:K1354E;ENSP00000272273:K578E	ENSP00000272273:K578E	K	+	1	0	LTBP1	33476988	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.424000	0.52764	2.204000	0.70986	0.528000	0.53228	AAG		PASS	0.443	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		32	83	32	83	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33623567	33623567	+	Silent	SNP	G	G	A	rs138835287		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:33623567G>A	ENST00000404816.2	+	34	5474	c.5121G>A	c.(5119-5121)ccG>ccA	p.P1707P	LTBP1_ENST00000354476.3_Silent_p.P1708P|LTBP1_ENST00000407925.1_Silent_p.P1381P|LTBP1_ENST00000418533.2_Silent_p.P1339P|LTBP1_ENST00000272273.5_Silent_p.P605P|LTBP1_ENST00000404525.1_Silent_p.P1328P|LTBP1_ENST00000390003.4_Silent_p.P1382P|LTBP1_ENST00000402934.1_Silent_p.P1326P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1707					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.P1708P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACTGCACTCCGTTGAATACCG	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21600	0.0		0.0	False		,,,				2504	0.0					uc002ros.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(5122-5124)CCG>CCA		latent transforming growth factor beta binding		G	,,,,	0,4406		0,0,2203	123.0	99.0	107.0		4143,4017,3984,3858,5121	-9.1	0.0	2	dbSNP_134	107	21,8579	15.3+/-51.7	0,21,4279	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	,,,,	0,21,6482	AA,AG,GG		0.2442,0.0,0.1615	,,,,	1381/1396,1339/1354,1328/1343,1286/1301,1707/1722	33623567	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33623567G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.5121G>A	2.37:g.33623567G>A						LTBP1_uc002rot.2_Silent_p.P1382P|LTBP1_uc002rou.2_Silent_p.P1381P|LTBP1_uc002rov.2_Silent_p.P1328P|LTBP1_uc010ymz.1_Silent_p.P1339P|LTBP1_uc010yna.1_Silent_p.P1286P|LTBP1_uc010ynb.1_Silent_p.P605P	p.P1708P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			34	5124	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1707					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.5124G>A	CCDS33177.2																																																																																				PASS	0.458	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		35	24	35	24	---	---	---	---
VIT	5212	broad.mit.edu	37	2	37032769	37032769	+	Nonsense_Mutation	SNP	G	G	T	rs368117862		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:37032769G>T	ENST00000389975.3	+	13	1608	c.1306G>T	c.(1306-1308)Gag>Tag	p.E436*	VIT_ENST00000404084.1_Nonsense_Mutation_p.E388*|VIT_ENST00000379242.3_Nonsense_Mutation_p.E451*|VIT_ENST00000497382.1_Nonsense_Mutation_p.E105*|VIT_ENST00000379241.3_Nonsense_Mutation_p.E414*|VIT_ENST00000401530.1_Nonsense_Mutation_p.E415*	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	436	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.E451*(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCTGAAAATGAGAAGCAGTA	0.478																																						uc002rpl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1351-1353)GAG>TAG		vitrin							91.0	77.0	82.0					2																	37032769		2203	4300	6503	SO:0001587	stop_gained	5212					proteinaceous extracellular matrix		g.chr2:37032769G>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1306G>T	2.37:g.37032769G>T	ENSP00000374625:p.Glu436*					VIT_uc002rpm.2_Nonsense_Mutation_p.E429*|VIT_uc010ezv.2_Nonsense_Mutation_p.E407*|VIT_uc010ezw.2_Nonsense_Mutation_p.E408*	p.E451*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			14	1572	+		all_hematologic(82;0.248)	436			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Nonsense_Mutation	SNP	ENST00000389975.3	37	c.1351G>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	38	7.250892	0.98164	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	.	.	.	5.49	5.49	0.81192	.	0.048987	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.1379	17.5638	0.87914	0.0:0.0:1.0:0.0	.	.	.	.	X	451;436;105;388;414;415	.	ENSP00000368543:E414X	E	+	1	0	VIT	36886273	1.000000	0.71417	0.954000	0.39281	0.880000	0.50808	9.454000	0.97621	2.569000	0.86673	0.650000	0.86243	GAG		PASS	0.478	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				43	26	43	26	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40405579	40405579	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:40405579G>A	ENST00000403092.1	-	3	1896	c.1863C>T	c.(1861-1863)acC>acT	p.T621T	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.T621T|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000332839.4_Silent_p.T621T|SLC8A1_ENST00000542756.1_Silent_p.T621T|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	621	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T621T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAGGAAGAAGGTCTTGTTTT	0.483																																						uc002rrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1861-1863)ACC>ACT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						239.0	236.0	237.0					2																	40405579		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40405579G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1863C>T	2.37:g.40405579G>A						uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.T621T|SLC8A1_uc002rrz.2_Intron|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Intron	p.T621T	NM_021097	NP_066920	P32418	NAC1_HUMAN			2	1887	-			621			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.1863C>T	CCDS1806.1																																																																																				PASS	0.483	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		142	159	142	159	---	---	---	---
COX7A2L	9167	broad.mit.edu	37	2	42578481	42578481	+	Missense_Mutation	SNP	C	C	T	rs185444762		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:42578481C>T	ENST00000378669.1	-	4	1052	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	COX7A2L_ENST00000234301.2_Missense_Mutation_p.V75I|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	75					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.V75I(1)		lung(4)	4						TTCAGGTAGACGGGCACACCA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		16895	0.001		0.0	False		,,,				2504	0.0					uc002rsk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GTC>ATC		cytochrome c oxidase subunit VIIa polypeptide 2							88.0	76.0	80.0					2																	42578481		2203	4300	6503	SO:0001583	missense	9167				respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr2:42578481C>T	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.223G>A	2.37:g.42578481C>T	ENSP00000367938:p.Val75Ile					COX7A2L_uc002rsl.2_RNA	p.V75I	NM_004718	NP_004709	O14548	COX7R_HUMAN			3	278	-			75					Q9P118	Missense_Mutation	SNP	ENST00000378669.1	37	c.223G>A	CCDS1808.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.514	0.279803	0.10458	.	.	ENSG00000115944	ENST00000378669;ENST00000234301	T;T	0.53206	0.63;0.63	5.31	-7.43	0.01383	.	0.411602	0.25777	N	0.028368	T	0.37019	0.0988	L	0.46614	1.455	0.26869	N	0.967784	B	0.17268	0.021	B	0.15484	0.013	T	0.04467	-1.0949	10	0.25106	T	0.35	-3.1372	21.0148	0.99943	0.0:0.8565:0.0:0.1435	.	75	O14548	COX7R_HUMAN	I	75	ENSP00000367938:V75I;ENSP00000234301:V75I	ENSP00000234301:V75I	V	-	1	0	COX7A2L	42431985	0.010000	0.17322	0.048000	0.18961	0.254000	0.26022	0.181000	0.16880	-1.348000	0.02205	-1.170000	0.01741	GTC		PASS	0.448	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	NM_004718		20	40	20	40	---	---	---	---
PREPL	9581	broad.mit.edu	37	2	44549036	44549036	+	Missense_Mutation	SNP	T	T	C	rs142051325		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:44549036T>C	ENST00000409936.1	-	14	2461	c.2024A>G	c.(2023-2025)tAt>tGt	p.Y675C	PREPL_ENST00000260648.6_Missense_Mutation_p.Y675C|PREPL_ENST00000410081.1_Missense_Mutation_p.Y675C|PREPL_ENST00000409957.1_Missense_Mutation_p.Y586C|PREPL_ENST00000541738.1_Missense_Mutation_p.Y586C|PREPL_ENST00000409272.1_Missense_Mutation_p.Y675C|PREPL_ENST00000378520.3_Missense_Mutation_p.Y609C|PREPL_ENST00000378511.3_Missense_Mutation_p.Y613C|PREPL_ENST00000409411.1_Missense_Mutation_p.Y586C	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	675						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.Y675C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGGGTCTGATAGCCTGGAAG	0.413																																						uc002ruf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2023-2025)TAT>TGT		prolyl endopeptidase-like isoform C		T	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	73.0	76.0	75.0		1838,1826,2024,2024,1757,1757,2024	2.4	1.0	2	dbSNP_134	75	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PREPL	NM_001042385.2,NM_001042386.2,NM_001171603.1,NM_001171606.1,NM_001171613.1,NM_001171617.1,NM_006036.4	194,194,194,194,194,194,194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	613/666,609/662,675/728,675/728,586/639,586/639,675/728	44549036	1,13005	2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44549036T>C	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2024A>G	2.37:g.44549036T>C	ENSP00000386543:p.Tyr675Cys					PREPL_uc002rug.2_Missense_Mutation_p.Y609C|PREPL_uc002ruh.2_Missense_Mutation_p.Y613C|PREPL_uc010fax.2_Missense_Mutation_p.Y675C|PREPL_uc002rui.3_Missense_Mutation_p.Y586C|PREPL_uc002ruj.1_Missense_Mutation_p.Y586C|PREPL_uc002ruk.1_Missense_Mutation_p.Y675C	p.Y675C	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			13	2059	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	675					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.2024A>G	CCDS33190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.68|13.68	2.310029|2.310029	0.40895|0.40895	2.27E-4|2.27E-4	0.0|0.0	ENSG00000138078|ENSG00000138078	ENST00000420756|ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	.|T;T;T;T;T;T;T;T;T	.|0.29917	.|1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.9|4.9	2.41|2.41	0.29592|0.29592	.|Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	.|0.345547	.|0.29185	.|N	.|0.012890	T|T	0.28499|0.28499	0.0705|0.0705	N|N	0.14661|0.14661	0.345|0.345	0.18873|0.18873	N|N	0.999987|0.999987	.|D;D;D	.|0.76494	.|0.999;0.987;0.994	.|D;P;D	.|0.74674	.|0.984;0.892;0.935	T|T	0.04607|0.04607	-1.0939|-1.0939	5|10	.|0.39692	.|T	.|0.17	-10.7561|-10.7561	2.8113|2.8113	0.05442|0.05442	0.1438:0.0802:0.1495:0.6265|0.1438:0.0802:0.1495:0.6265	.|.	.|613;609;675	.|Q4J6C6-3;Q4J6C6-2;Q4J6C6	.|.;.;PPCEL_HUMAN	V|C	57|586;586;586;675;675;675;675;609;613	.|ENSP00000439626:Y586C;ENSP00000387095:Y586C;ENSP00000387241:Y586C;ENSP00000386543:Y675C;ENSP00000260648:Y675C;ENSP00000386909:Y675C;ENSP00000386509:Y675C;ENSP00000367781:Y609C;ENSP00000367772:Y613C	.|ENSP00000260648:Y675C	I|Y	-|-	1|2	0|0	PREPL|PREPL	44402540|44402540	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	2.040000|2.040000	0.41203|0.41203	0.857000|0.857000	0.35407|0.35407	0.482000|0.482000	0.46254|0.46254	ATC|TAT		PASS	0.413	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		19	61	19	61	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63609192	63609192	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:63609192G>T	ENST00000272321.7	-	11	2000	c.1473C>A	c.(1471-1473)atC>atA	p.I491I	WDPCP_ENST00000398544.3_Silent_p.I332I|WDPCP_ENST00000409562.3_Silent_p.I491I|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Silent_p.I299I|WDPCP_ENST00000409120.1_Silent_p.I299I	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	491					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.I491I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACTGGAAGATGATGTCTATCA	0.418																																						uc002sch.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1471-1473)ATC>ATA		hypothetical protein LOC51057 isoform 2							75.0	74.0	75.0					2																	63609192		1959	4147	6106	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63609192G>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1473C>A	2.37:g.63609192G>T						C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.I332I|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.I299I|C2orf86_uc002sci.1_Silent_p.I467I	p.I491I	NM_015910	NP_056994	O95876	FRITZ_HUMAN			11	1919	-			491					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.1473C>A	CCDS42688.1																																																																																				PASS	0.418	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		20	20	20	20	---	---	---	---
MEIS1	4211	broad.mit.edu	37	2	66670133	66670133	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:66670133A>G	ENST00000272369.9	+	6	1040	c.583A>G	c.(583-585)Aaa>Gaa	p.K195E	MEIS1-AS2_ENST00000439433.1_RNA|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000407092.2_Missense_Mutation_p.K195E|MEIS1_ENST00000488550.1_Missense_Mutation_p.K195E|MEIS1_ENST00000495021.2_Missense_Mutation_p.K130E|MEIS1_ENST00000560281.2_Missense_Mutation_p.K195E|MEIS1_ENST00000444274.2_Missense_Mutation_p.K163E|MEIS1_ENST00000398506.2_Missense_Mutation_p.K193E	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	195	Ser/Thr-rich.				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.K195E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGGAGGATCAAAATCAGACAG	0.378																																						uc002sdu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)AAA>GAA		Meis homeobox 1							148.0	147.0	147.0					2																	66670133		1883	4137	6020	SO:0001583	missense	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66670133A>G		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.583A>G	2.37:g.66670133A>G	ENSP00000272369:p.Lys195Glu					MEIS1_uc002sdt.2_Missense_Mutation_p.K195E|MEIS1_uc002sdv.2_Missense_Mutation_p.K193E|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.K130E|MEIS1_uc002sdw.1_Missense_Mutation_p.K51E	p.K195E	NM_002398	NP_002389	O00470	MEIS1_HUMAN			6	1040	+			195			Ser/Thr-rich.		A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.583A>G	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058531	0.36277	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	5.97	4.8	0.61643	.	0.045302	0.85682	D	0.000000	T	0.44350	0.1289	L	0.43923	1.385	0.43863	D	0.996462	P;D;D;D	0.76494	0.837;0.999;0.974;0.999	B;D;P;D	0.85130	0.281;0.997;0.763;0.997	T	0.18178	-1.0345	10	0.17832	T	0.49	.	13.0632	0.59018	0.8655:0.1345:0.0:0.0	.	130;193;195;195	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	E	195;195;193;163;130;15;51;51	ENSP00000272369:K195E;ENSP00000384461:K195E;ENSP00000381518:K193E;ENSP00000403206:K163E;ENSP00000440571:K130E;ENSP00000397418:K51E	ENSP00000272369:K195E	K	+	1	0	MEIS1	66523637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	1.061000	0.40601	0.533000	0.62120	AAA		PASS	0.378	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		80	82	80	82	---	---	---	---
EMX1	2016	broad.mit.edu	37	2	73145400	73145400	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:73145400C>T	ENST00000258106.6	+	1	797	c.419C>T	c.(418-420)cCg>cTg	p.P140L	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	107					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P140L(1)		cervix(1)|large_intestine(2)|lung(3)	6						GGCGCCTCCCCGCTGCAGCCC	0.716																																						uc002sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)CCG>CTG		empty spiracles homolog 1							9.0	10.0	9.0					2																	73145400		1825	3928	5753	SO:0001583	missense	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73145400C>T	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.419C>T	2.37:g.73145400C>T	ENSP00000258106:p.Pro140Leu					EMX1_uc002sim.1_Intron	p.P140L	NM_004097	NP_004088	Q04741	EMX1_HUMAN			1	797	+			107					Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	c.419C>T	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	c	11.58	1.681928	0.29872	.	.	ENSG00000135638	ENST00000258106;ENST00000473732	D;D	0.93712	-3.27;-2.56	3.67	2.68	0.31781	.	0.195745	0.32372	U	0.006184	D	0.89403	0.6705	L	0.48642	1.525	0.51012	D	0.999903	B	0.09022	0.002	B	0.04013	0.001	D	0.87110	0.2184	10	0.45353	T	0.12	-13.9465	12.0384	0.53438	0.185:0.815:0.0:0.0	.	107	Q04741	EMX1_HUMAN	L	140;18	ENSP00000258106:P140L;ENSP00000446992:P18L	ENSP00000258106:P140L	P	+	2	0	EMX1	72998908	0.838000	0.29461	0.980000	0.43619	0.950000	0.60333	0.743000	0.26231	1.882000	0.54519	0.556000	0.70494	CCG		PASS	0.716	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			14	20	14	20	---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73466917	73466917	+	Silent	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:73466917T>C	ENST00000258091.5	+	2	294	c.153T>C	c.(151-153)gaT>gaC	p.D51D	CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000537131.1_Start_Codon_SNP_p.M1T|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000539919.1_Silent_p.D7D|CCT7_ENST00000540468.1_Intron	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	51					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.D51D(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TTATTGTAGATGGCAGAGGTA	0.537																																						uc002siz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(151-153)GAT>GAC		chaperonin containing TCP1, subunit 7 isoform a							48.0	48.0	48.0					2																	73466917		1922	4134	6056	SO:0001819	synonymous_variant	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73466917T>C	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.153T>C	2.37:g.73466917T>C						CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Silent_p.D7D|CCT7_uc010feu.2_Silent_p.D51D|CCT7_uc010yrg.1_Missense_Mutation_p.M1T|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron	p.D51D	NM_006429	NP_006420	Q99832	TCPH_HUMAN			2	255	+			51					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	37	c.153T>C	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.764321	0.49574	.	.	ENSG00000135624	ENST00000537131	T	0.18657	2.2	5.18	5.18	0.71444	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02574	-1.1139	8	0.87932	D	0	-26.3546	14.3038	0.66373	0.0:0.0:0.0:1.0	.	1	F5GZK5	.	T	1	ENSP00000444379:M1T	ENSP00000444379:M1T	M	+	2	0	CCT7	73320425	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.022000	0.30052	2.302000	0.77476	0.533000	0.62120	ATG		PASS	0.537	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			15	35	15	35	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74136206	74136206	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:74136206C>G	ENST00000409624.1	+	6	1034	c.391C>G	c.(391-393)Cct>Gct	p.P131A	ACTG2_ENST00000409731.3_Missense_Mutation_p.P88A|ACTG2_ENST00000345517.3_Missense_Mutation_p.P131A			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	131					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P131A(1)		large_intestine(3)|lung(14)|skin(1)	18						CTTCAATGTCCCTGCCATGTA	0.433																																						uc002sjw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)CCT>GCT		actin, gamma 2 propeptide							205.0	188.0	194.0					2																	74136206		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74136206C>G		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.391C>G	2.37:g.74136206C>G	ENSP00000386857:p.Pro131Ala					ACTG2_uc010fey.2_Missense_Mutation_p.P131A|ACTG2_uc010yrn.1_Missense_Mutation_p.P88A	p.P131A	NM_001615	NP_001606	P63267	ACTH_HUMAN			5	513	+			131					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.391C>G	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675639	0.67928	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.98075	-4.7;-4.7;-4.7	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.94021	3.485	0.53688	D	0.999979	D;D	0.69078	0.997;0.982	D;D	0.70716	0.967;0.97	D	0.99368	1.0919	10	0.87932	D	0	.	17.4422	0.87568	0.0:1.0:0.0:0.0	.	88;131	E9PG30;P63267	.;ACTH_HUMAN	A	88;131;131	ENSP00000386929:P88A;ENSP00000295137:P131A;ENSP00000386857:P131A	ENSP00000295137:P131A	P	+	1	0	ACTG2	73989714	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.574000	0.82434	2.724000	0.93272	0.462000	0.41574	CCT		PASS	0.433	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		31	106	31	106	---	---	---	---
IGKV1-6	28943	broad.mit.edu	37	2	89265862	89265862	+	RNA	SNP	G	G	T	rs200322104	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:89265862G>T	ENST00000464162.1	-	0	298									immunoglobulin kappa variable 1-6																		TGAAATCTGTGCCAGATCCAC	0.488																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							168.0	160.0	162.0					2																	89265862		1884	4109	5993			0							g.chr2:89265862G>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265862G>T						uc002stl.2_Intron								95		-									RNA	SNP	ENST00000464162.1	37	c.7704C>A																																																																																					PASS	0.488	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		93	113	93	113	---	---	---	---
IGKV1D-43	28891	broad.mit.edu	37	2	90249398	90249398	+	RNA	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:90249398C>A	ENST00000468879.1	+	0	532									immunoglobulin kappa variable 1D-43																		GTACCCCTCCCACAGTGTTAC	0.517																																						uc010fhm.2																			0											c.e28+2		Parts of antibodies, mostly variable regions.							134.0	119.0	123.0					2																	90249398		1870	4104	5974			0							g.chr2:90249398C>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249398C>A														28		+									Splice_Site	SNP	ENST00000468879.1	37	c.3939_splice																																																																																					PASS	0.517	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		38	108	38	108	---	---	---	---
IL18R1	8809	broad.mit.edu	37	2	103013161	103013161	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:103013161G>A	ENST00000409599.1	+	12	1797	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	IL18R1_ENST00000233957.1_Missense_Mutation_p.D481N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	481	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.D481N(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACCTGTTACTGACTTCACATT	0.358																																						uc002tbw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1441-1443)GAC>AAC		interleukin 18 receptor 1 precursor							86.0	90.0	89.0					2																	103013161		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013161G>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1441G>A	2.37:g.103013161G>A	ENSP00000387211:p.Asp481Asn					IL18R1_uc010ywc.1_Missense_Mutation_p.D480N|IL18R1_uc010ywd.1_Missense_Mutation_p.D325N|IL18R1_uc010fiy.2_Missense_Mutation_p.D481N	p.D481N	NM_003855	NP_003846	Q13478	IL18R_HUMAN			11	1591	+			481			TIR.|Cytoplasmic (Potential).		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.1441G>A	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311037	0.23821	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.08896	3.04;3.04;3.04	5.59	3.71	0.42584	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.382943	0.27922	N	0.017315	T	0.06600	0.0169	L	0.27053	0.805	0.25990	N	0.982253	B;B	0.29301	0.241;0.241	B;B	0.30105	0.111;0.111	T	0.29366	-1.0014	10	0.38643	T	0.18	.	9.5195	0.39126	0.238:0.0:0.762:0.0	.	480;481	B7ZKV7;Q13478	.;IL18R_HUMAN	N	481	ENSP00000386663:D481N;ENSP00000387211:D481N;ENSP00000233957:D481N	ENSP00000233957:D481N	D	+	1	0	IL18R1	102379593	0.888000	0.30383	0.018000	0.16275	0.600000	0.36913	1.393000	0.34497	0.763000	0.33175	0.563000	0.77884	GAC		PASS	0.358	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		61	106	61	106	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128913101	128913101	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:128913101T>G	ENST00000259253.6	+	20	2223	c.2176T>G	c.(2176-2178)Ttg>Gtg	p.L726V	UGGT1_ENST00000375990.3_Missense_Mutation_p.L702V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	726					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.L726V(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTTACTATCTTGGATTCCCA	0.328																																						uc002tps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2176-2178)TTG>GTG		UDP-glucose ceramide glucosyltransferase-like 1							108.0	107.0	107.0					2																	128913101		2203	4298	6501	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128913101T>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2176T>G	2.37:g.128913101T>G	ENSP00000259253:p.Leu726Val					UGGT1_uc010fme.1_Missense_Mutation_p.L601V|UGGT1_uc002tpr.2_Missense_Mutation_p.L702V	p.L726V	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			20	2354	+			726					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2176T>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785580	0.49997	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29655	1.56;1.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	M	0.83223	2.63	0.80722	D	1	P;P	0.49862	0.732;0.929	B;B	0.43103	0.333;0.408	T	0.50742	-0.8792	9	.	.	.	.	15.1752	0.72903	0.0:0.0:0.0:1.0	.	702;726	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	702;726	ENSP00000365158:L702V;ENSP00000259253:L726V	.	L	+	1	2	UGGT1	128629571	0.654000	0.27367	0.993000	0.49108	0.575000	0.36095	1.023000	0.30065	2.009000	0.58944	0.254000	0.18369	TTG		PASS	0.328	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		40	79	40	79	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130872857	130872857	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:130872857A>G	ENST00000409914.2	-	4	965	c.566T>C	c.(565-567)gTa>gCa	p.V189A	POTEF_ENST00000361163.4_Missense_Mutation_p.V189A|POTEF_ENST00000357462.5_Missense_Mutation_p.V189A|POTEF_ENST00000360967.5_Missense_Mutation_p.V189A	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	189					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V189A(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGGAGTTTTACTACTTCTGA	0.433																																						uc010fmh.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(565-567)GTA>GCA		prostate, ovary, testis expressed protein on							44.0	53.0	50.0					2																	130872857		1576	3139	4715	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130872857A>G	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.566T>C	2.37:g.130872857A>G	ENSP00000386786:p.Val189Ala						p.V189A	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			4	966	-			189			ANK 1.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.566T>C	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	11.21	1.572087	0.28092	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;D	0.85556	-0.44;-0.44;-0.44;-2.0	1.13	1.13	0.20643	Ankyrin repeat-containing domain (4);	0.000000	0.42821	D	0.000641	D	0.84343	0.5451	L	0.46157	1.445	0.38992	D	0.959161	P	0.47677	0.899	P	0.57502	0.822	T	0.82592	-0.0381	10	0.87932	D	0	.	4.5291	0.11995	1.0:0.0:0.0:0.0	.	189	A5A3E0	POTEF_HUMAN	A	189	ENSP00000350052:V189A;ENSP00000386786:V189A;ENSP00000354232:V189A;ENSP00000355012:V189A	ENSP00000350052:V189A	V	-	2	0	POTEF	130589327	0.993000	0.37304	0.007000	0.13788	0.495000	0.33615	4.411000	0.59781	0.780000	0.33566	0.128000	0.15822	GTA		PASS	0.433	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		22	111	22	111	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	136107557	136107557	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:136107557T>G	ENST00000264159.6	-	5	704	c.588A>C	c.(586-588)gaA>gaC	p.E196D	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E196D|ZRANB3_ENST00000401392.1_Missense_Mutation_p.E196D	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	196	DNA annealing helicase activity.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.E196D(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTAATACCTCTTCAGGCCTTC	0.403																																						uc002tum.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(586-588)GAA>GAC		zinc finger, RAN-binding domain containing 3							114.0	103.0	106.0					2																	136107557		1845	4095	5940	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136107557T>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.588A>C	2.37:g.136107557T>G	ENSP00000264159:p.Glu196Asp					ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.E196D|ZRANB3_uc002tun.1_Missense_Mutation_p.E136D	p.E196D	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	5	705	-			196			Helicase ATP-binding.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.588A>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123161	0.77436	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.93906	-3.31;-3.31;-3.31	5.57	3.19	0.36642	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	L	0.53671	1.685	0.48236	D	0.999618	D;D;D	0.76494	0.996;0.999;0.995	D;D;D	0.81914	0.939;0.995;0.961	D	0.92307	0.5854	10	0.40728	T	0.16	-9.5577	8.1373	0.31063	0.0:0.2274:0.0:0.7726	.	136;196;196	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	D	196;196;196;136	ENSP00000383979:E196D;ENSP00000264159:E196D;ENSP00000441320:E196D	ENSP00000264159:E196D	E	-	3	2	ZRANB3	135824027	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.447000	0.35101	0.967000	0.38186	0.482000	0.46254	GAA		PASS	0.403	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		23	56	23	56	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137814087	137814087	+	Silent	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:137814087T>A	ENST00000409968.1	+	3	415	c.237T>A	c.(235-237)tcT>tcA	p.S79S	THSD7B_ENST00000413152.2_Silent_p.S48S|THSD7B_ENST00000272643.3_Silent_p.S79S|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	79	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S79S(1)|p.S48S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCACCTGTCTAACTGTGGTG	0.542																																						uc002tva.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(142-144)TCT>TCA		thrombospondin, type I, domain containing 7B							84.0	91.0	89.0					2																	137814087		2035	4208	6243	SO:0001819	synonymous_variant	80731							g.chr2:137814087T>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.237T>A	2.37:g.137814087T>A						THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.S48S	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	144	+									Silent	SNP	ENST00000409968.1	37	c.144T>A																																																																																					PASS	0.542	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		16	56	16	56	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152420154	152420154	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:152420154A>G	ENST00000172853.10	-	91	13703	c.13556T>C	c.(13555-13557)gTt>gCt	p.V4519A	NEB_ENST00000604864.1_Missense_Mutation_p.V6220A|NEB_ENST00000409198.1_Missense_Mutation_p.V4519A|NEB_ENST00000427231.2_Missense_Mutation_p.V6220A|NEB_ENST00000603639.1_Missense_Mutation_p.V6220A|NEB_ENST00000397345.3_Missense_Mutation_p.V6220A			P20929	NEBU_HUMAN	nebulin	4519					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V4519A(1)|p.V6220A(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGACAGTGAACCACACCAGG	0.443																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(13555-13557)GTT>GCT		nebulin isoform 3							312.0	293.0	299.0					2																	152420154		1939	4142	6081	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420154A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13556T>C	2.37:g.152420154A>G	ENSP00000172853:p.Val4519Ala					NEB_uc002txr.2_Missense_Mutation_p.V942A	p.V4519A	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	91	13747	-			4519					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.13556T>C		.	.	.	.	.	.	.	.	.	.	A	16.69	3.192948	0.58017	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.54	5.54	0.83059	.	0.304245	0.35585	N	0.003113	T	0.38532	0.1044	N	0.21448	0.665	0.80722	D	1	B;D	0.54047	0.012;0.964	B;D	0.69824	0.097;0.966	T	0.12785	-1.0534	10	0.32370	T	0.25	.	11.8535	0.52425	0.9295:0.0:0.0705:0.0	.	4519;950	P20929;Q14215	NEBU_HUMAN;.	A	4519;6220;6220;568;950;4519	ENSP00000386259:V4519A;ENSP00000380505:V6220A;ENSP00000416578:V6220A;ENSP00000410961:V950A;ENSP00000172853:V4519A	ENSP00000172853:V4519A	V	-	2	0	NEB	152128400	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.362000	0.66098	2.231000	0.72958	0.455000	0.32223	GTT		PASS	0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		169	179	169	179	---	---	---	---
GALNT3	2591	broad.mit.edu	37	2	166606403	166606403	+	Splice_Site	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:166606403T>C	ENST00000392701.3	-	10	2403	c.1628A>G	c.(1627-1629)tAc>tGc	p.Y543C	GALNT3_ENST00000409882.1_Splice_Site_p.Y281C	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	543	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y543C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GTATTCAAAGTACTATGGAAG	0.378																																						uc010fph.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1627-1629)TAC>TGC		polypeptide N-acetylgalactosaminyltransferase 3							133.0	117.0	122.0					2																	166606403		2203	4299	6502	SO:0001630	splice_region_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166606403T>C		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1627-1A>G	2.37:g.166606403T>C							p.Y543C	NM_004482	NP_004473	Q14435	GALT3_HUMAN			10	2015	-			543			Ricin B-type lectin.|Lumenal (Potential).		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1628A>G	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836004	0.71373	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	T;T	0.77358	-1.09;-1.09	5.43	5.43	0.79202	Ricin B-related lectin (1);Ricin B lectin (3);	0.137574	0.51477	D	0.000089	D	0.89005	0.6592	M	0.90082	3.085	0.80722	D	1	D	0.60575	0.988	P	0.62014	0.897	D	0.90882	0.4754	10	0.56958	D	0.05	.	15.4862	0.75569	0.0:0.0:0.0:1.0	.	543	Q14435	GALT3_HUMAN	C	543;281	ENSP00000376465:Y543C;ENSP00000386955:Y281C	ENSP00000376465:Y543C	Y	-	2	0	GALNT3	166314649	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	8.036000	0.88901	2.063000	0.61619	0.533000	0.62120	TAC		PASS	0.378	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	Missense_Mutation	69	80	69	80	---	---	---	---
FASTKD1	79675	broad.mit.edu	37	2	170387868	170387868	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:170387868G>T	ENST00000453153.2	-	13	2667	c.2321C>A	c.(2320-2322)gCt>gAt	p.A774D	FASTKD1_ENST00000453929.2_Missense_Mutation_p.A731D|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	774					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A774D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TTACCTTTCAGCCCCTGGTGG	0.378																																						uc002uev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2320-2322)GCT>GAT		FAST kinase domains 1							61.0	58.0	59.0					2																	170387868		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170387868G>T	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2321C>A	2.37:g.170387868G>T	ENSP00000400513:p.Ala774Asp					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.A717D	p.A774D	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			13	2709	-			774					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.2321C>A	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462234	0.84425	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.22743	1.94;1.99	5.45	5.45	0.79879	.	4.023070	0.02415	N	0.082047	T	0.53948	0.1828	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	D;P	0.67382	0.951;0.894	T	0.12451	-1.0547	10	0.72032	D	0.01	-15.7708	17.9213	0.88966	0.0:0.0:1.0:0.0	.	731;774	Q53R41-2;Q53R41	.;FAKD1_HUMAN	D	774;731	ENSP00000400513:A774D;ENSP00000403229:A731D	ENSP00000400513:A774D	A	-	2	0	FASTKD1	170096114	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.556000	0.60775	2.578000	0.87016	0.650000	0.86243	GCT		PASS	0.378	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		33	36	33	36	---	---	---	---
CCDC173	129881	broad.mit.edu	37	2	170502594	170502594	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:170502594C>T	ENST00000447353.1	-	9	1521	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	472								p.Q466Q(1)									TGGCATAGTCCTGAAATTCTT	0.388																																						uc002ufe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1414-1416)CAG>CAA		hypothetical protein LOC129881							219.0	218.0	218.0					2																	170502594		1850	4080	5930	SO:0001819	synonymous_variant	129881							g.chr2:170502594C>T	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1416G>A	2.37:g.170502594C>T							p.Q472Q	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			9	1510	-			472			Potential.		Q6PJF6	Silent	SNP	ENST00000447353.1	37	c.1416G>A	CCDS46445.1																																																																																				PASS	0.388	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		184	180	184	180	---	---	---	---
METTL8	79828	broad.mit.edu	37	2	172216976	172216976	+	Missense_Mutation	SNP	T	T	C	rs563180068		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:172216976T>C	ENST00000375258.4	-	3	406	c.191A>G	c.(190-192)aAa>aGa	p.K64R		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	64						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.K64R(2)|p.K14R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TTCTTTTACTTTTTTTCTGGC	0.413																																						uc010zdo.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(190-192)AAA>AGA		methyltransferase like 8							157.0	143.0	148.0					2																	172216976		2203	4300	6503	SO:0001583	missense	79828						methyltransferase activity	g.chr2:172216976T>C	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.191A>G	2.37:g.172216976T>C	ENSP00000364407:p.Lys64Arg					METTL8_uc002ugu.3_Missense_Mutation_p.K64R|METTL8_uc002ugv.3_Missense_Mutation_p.K64R|METTL8_uc002ugt.3_Missense_Mutation_p.K64R|METTL8_uc002ugs.3_Missense_Mutation_p.K14R|METTL8_uc010zdp.1_Missense_Mutation_p.K19R	p.K64R	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN			3	332	-			64					Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37	c.191A>G		.	.	.	.	.	.	.	.	.	.	T	14.10	2.433439	0.43224	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846;ENST00000442541	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.52	1.88	0.25563	.	0.314088	0.37809	N	0.001922	T	0.19327	0.0464	L	0.43152	1.355	0.29556	N	0.850964	B;B;B	0.24618	0.107;0.013;0.107	B;B;B	0.25291	0.04;0.017;0.059	T	0.11084	-1.0602	10	0.39692	T	0.17	-0.0395	7.4572	0.27274	0.0:0.2511:0.0:0.7489	.	19;64;64	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	R	64	ENSP00000364407:K64R;ENSP00000376377:K64R;ENSP00000404646:K64R;ENSP00000411589:K64R;ENSP00000411942:K64R	ENSP00000364407:K64R	K	-	2	0	METTL8	171925222	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.450000	0.35134	0.473000	0.27368	0.482000	0.46254	AAA		PASS	0.413	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		24	32	24	32	---	---	---	---
HOXD13	3239	broad.mit.edu	37	2	176957927	176957927	+	Silent	SNP	A	A	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:176957927A>C	ENST00000392539.3	+	1	309	c.309A>C	c.(307-309)ccA>ccC	p.P103P		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	103					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P103P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		AGGCTCCCCCAGCCAAAGAGT	0.701			T	NUP98	AML*																																	uc002ukf.1				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(307-309)CCA>CCC		homeobox D13							10.0	13.0	12.0					2																	176957927		2042	4033	6075	SO:0001819	synonymous_variant	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176957927A>C	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.309A>C	2.37:g.176957927A>C							p.P103P	NM_000523	NP_000514	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	396	+			103						Silent	SNP	ENST00000392539.3	37	c.309A>C	CCDS2264.2																																																																																				PASS	0.701	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			4	5	4	5	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437986	179437986	+	Silent	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:179437986A>G	ENST00000591111.1	-	276	68174	c.67950T>C	c.(67948-67950)caT>caC	p.H22650H	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.H24291H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.H15351H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.H15226H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.H15418H|TTN_ENST00000342992.6_Silent_p.H21723H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22650	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H21721H(1)|p.H15418H(1)|p.H15351H(1)|p.H21723H(1)|p.H15226H(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)			ACTCATATTCATGTCCTTCTG	0.408																																						uc010zfg.1																			5	Substitution - coding silent(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.(65167-65169)CAT>CAC		titin isoform N2-A							112.0	112.0	112.0					2																	179437986		1921	4136	6057	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437986A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67950T>C	2.37:g.179437986A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H15418H|TTN_uc010zfi.1_Silent_p.H15351H|TTN_uc010zfj.1_Silent_p.H15226H	p.H21723H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65393	-			22650					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.65169T>C																																																																																					PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	48	64	48	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179451955	179451955	+	Missense_Mutation	SNP	G	G	C	rs370506995		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:179451955G>C	ENST00000591111.1	-	257	59284	c.59060C>G	c.(59059-59061)aCc>aGc	p.T19687S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T21328S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T12388S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T12263S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T12455S|TTN_ENST00000342992.6_Missense_Mutation_p.T18760S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19687	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T12263S(1)|p.T18760S(1)|p.T12455S(1)|p.T12388S(1)|p.T18758S(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)			GACAAGATTGGTTACATGGAA	0.473																																						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.(56278-56280)ACC>AGC		titin isoform N2-A							152.0	152.0	152.0					2																	179451955		1938	4140	6078	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451955G>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.59060C>G	2.37:g.179451955G>C	ENSP00000465570:p.Thr19687Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T12455S|TTN_uc010zfi.1_Missense_Mutation_p.T12388S|TTN_uc010zfj.1_Missense_Mutation_p.T12263S	p.T18760S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		256	56503	-			19687					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.56279C>G		.	.	.	.	.	.	.	.	.	.	G	20.5	3.999880	0.74818	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.98	5.1	0.69264	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42743	0.1216	N	0.20401	0.57	0.34399	D	0.695063	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.003;0.003;0.005;0.005	T	0.51568	-0.8689	9	0.87932	D	0	.	17.4286	0.87533	0.0:0.1243:0.8757:0.0	.	12263;12388;12455;19687	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	18760;12263;12455;12388;12261	ENSP00000343764:T18760S;ENSP00000434586:T12263S;ENSP00000340554:T12455S;ENSP00000352154:T12388S	ENSP00000340554:T12455S	T	-	2	0	TTN	179160201	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	4.782000	0.62396	1.533000	0.49186	0.650000	0.86243	ACC		PASS	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	114	43	114	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179469006	179469006	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:179469006C>G	ENST00000591111.1	-	232	49709	c.49485G>C	c.(49483-49485)caG>caC	p.Q16495H	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q18136H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q9196H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q9071H|TTN_ENST00000342175.6_Missense_Mutation_p.Q9263H|TTN_ENST00000342992.6_Missense_Mutation_p.Q15568H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16495	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q15568H(2)|p.Q9196H(1)|p.Q9263H(1)|p.Q9071H(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)			GGAACTCATACTGACCATTGG	0.353																																						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.(46702-46704)CAG>CAC		titin isoform N2-A							57.0	54.0	55.0					2																	179469006		1861	4090	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469006C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49485G>C	2.37:g.179469006C>G	ENSP00000465570:p.Gln16495His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q9263H|TTN_uc010zfi.1_Missense_Mutation_p.Q9196H|TTN_uc010zfj.1_Missense_Mutation_p.Q9071H	p.Q15568H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	46928	-			16495					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.46704G>C		.	.	.	.	.	.	.	.	.	.	C	9.891	1.204177	0.22205	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.17	-2.25	0.06888	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46190	0.1380	L	0.28556	0.865	0.32715	N	0.511098	B;B;B;P	0.49696	0.0;0.0;0.0;0.927	B;B;B;P	0.52109	0.002;0.002;0.003;0.69	T	0.56926	-0.7898	9	0.87932	D	0	.	7.6944	0.28585	0.1058:0.3055:0.0:0.5887	.	9071;9196;9263;16495	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15568;9071;9263;9196;9071	ENSP00000343764:Q15568H;ENSP00000434586:Q9071H;ENSP00000340554:Q9263H;ENSP00000352154:Q9196H	ENSP00000340554:Q9263H	Q	-	3	2	TTN	179177251	0.935000	0.31712	0.910000	0.35882	0.991000	0.79684	-0.023000	0.12456	-0.633000	0.05545	-0.140000	0.14226	CAG		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	34	20	34	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179592314	179592314	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:179592314G>T	ENST00000591111.1	-	66	19264	c.19040C>A	c.(19039-19041)aCa>aAa	p.T6347K	TTN_ENST00000589042.1_Missense_Mutation_p.T6664K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T5420K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13119	Ig-like 44.				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.T5420K(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)			TTGCACACCTGTCACAAGCAA	0.378																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(16258-16260)ACA>AAA		titin isoform N2-A							162.0	162.0	162.0					2																	179592314		2058	4211	6269	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592314G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19040C>A	2.37:g.179592314G>T	ENSP00000465570:p.Thr6347Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2081K	p.T5420K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	16483	-			6347					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.16259C>A		.	.	.	.	.	.	.	.	.	.	G	12.55	1.971516	0.34754	.	.	ENSG00000155657	ENST00000342992	T	0.39406	1.08	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22936	0.0554	N	0.01146	-0.985	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.23583	-1.0184	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	6347	Q8WZ42	TITIN_HUMAN	K	5420	ENSP00000343764:T5420K	ENSP00000343764:T5420K	T	-	2	0	TTN	179300559	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.072000	0.76777	2.840000	0.97914	0.655000	0.94253	ACA		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	168	45	168	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209189668	209189668	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:209189668G>T	ENST00000264380.4	+	19	2523	c.2365G>T	c.(2365-2367)Ggt>Tgt	p.G789C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	789					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.G789C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AATGACCCAAGGTGATTTAGT	0.358																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(2365-2367)GGT>TGT		phosphatidylinositol-3-phosphate 5-kinase type							133.0	129.0	130.0					2																	209189668		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209189668G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2365G>T	2.37:g.209189668G>T	ENSP00000264380:p.Gly789Cys					PIKFYVE_uc010fun.1_Missense_Mutation_p.G470C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.G733C	p.G789C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			19	2523	+			789					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2365G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995844	0.74703	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.70164	-0.46;-0.46	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77576	-0.2536	10	0.87932	D	0	-23.289	20.3472	0.98799	0.0:0.0:1.0:0.0	.	789;733	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	789;365;733	ENSP00000264380:G789C;ENSP00000405736:G733C	ENSP00000264380:G789C	G	+	1	0	PIKFYVE	208897913	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.890000	0.99128	0.650000	0.86243	GGT		PASS	0.358	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		87	27	87	27	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882367	228882367	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:228882367C>A	ENST00000392056.3	-	7	3249	c.3203G>T	c.(3202-3204)cGg>cTg	p.R1068L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1068L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1068						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R1068L(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCAGTAACCGATTCCGGGG	0.577																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3202-3204)CGG>CTG		sphingosine kinase type 1-interacting protein							48.0	51.0	50.0					2																	228882367		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882367C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3203G>T	2.37:g.228882367C>A	ENSP00000375909:p.Arg1068Leu					SPHKAP_uc002vpp.2_Missense_Mutation_p.R1068L|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1068L	p.R1068L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3250	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1068					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3203G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683840	0.88639	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.30448	1.55;1.53	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.28106	-1.0054	10	0.49607	T	0.09	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	99;1068;1068	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	1068	ENSP00000375909:R1068L;ENSP00000339886:R1068L	ENSP00000339886:R1068L	R	-	2	0	SPHKAP	228590611	1.000000	0.71417	0.092000	0.20876	0.919000	0.55068	7.194000	0.77789	2.894000	0.99253	0.655000	0.94253	CGG		PASS	0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		50	11	50	11	---	---	---	---
SP110	3431	broad.mit.edu	37	2	231035425	231035425	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:231035425T>G	ENST00000358662.4	-	17	1946	c.1868A>C	c.(1867-1869)aAg>aCg	p.K623T	SP110_ENST00000258381.6_Missense_Mutation_p.K647T|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	623	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.K647T(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGCCTTTCCTTAACCAGGTC	0.473																																						uc002vqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1867-1869)AAG>ACG		SP110 nuclear body protein isoform a							177.0	135.0	149.0					2																	231035425		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231035425T>G	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1868A>C	2.37:g.231035425T>G	ENSP00000351488:p.Lys623Thr					SP110_uc002vqg.3_Missense_Mutation_p.K647T	p.K623T	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	17	2108	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	623			Bromo.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1868A>C	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.408184	0.25378	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.49720	0.77;0.77	4.01	2.81	0.32909	Bromodomain (3);	0.503297	0.14842	N	0.295202	T	0.53254	0.1785	M	0.87758	2.905	0.27555	N	0.950368	P;P	0.50943	0.901;0.94	B;B	0.43809	0.249;0.432	T	0.54569	-0.8274	10	0.87932	D	0	.	7.7347	0.28806	0.0:0.0:0.2143:0.7857	.	623;647	Q9HB58;Q9HB58-6	SP110_HUMAN;.	T	647;623	ENSP00000258381:K647T;ENSP00000351488:K623T	ENSP00000258381:K647T	K	-	2	0	SP110	230743669	0.603000	0.26924	0.026000	0.17262	0.022000	0.10575	1.157000	0.31724	0.646000	0.30693	0.379000	0.24179	AAG		PASS	0.473	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		46	17	46	17	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38639337	38639337	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:38639337C>A	ENST00000333535.4	-	14	2294	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	SCN5A_ENST00000423572.2_Missense_Mutation_p.M715I|SCN5A_ENST00000449557.2_Missense_Mutation_p.M715I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M715I|SCN5A_ENST00000414099.2_Missense_Mutation_p.M715I|SCN5A_ENST00000413689.1_Missense_Mutation_p.M715I|SCN5A_ENST00000451551.2_Missense_Mutation_p.M715I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M715I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M715I|SCN5A_ENST00000425664.1_Missense_Mutation_p.M715I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	715					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.M715I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TAAACGGGTCCATGACCACCA	0.542																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(2143-2145)ATG>ATT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						152.0	155.0	154.0					3																	38639337		2153	4263	6416	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639337C>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2145G>T	3.37:g.38639337C>A	ENSP00000328968:p.Met715Ile					SCN5A_uc003cin.2_Missense_Mutation_p.M715I|SCN5A_uc003cil.3_Missense_Mutation_p.M715I|SCN5A_uc010hhi.2_Missense_Mutation_p.M715I|SCN5A_uc010hhk.2_Missense_Mutation_p.M715I|SCN5A_uc011ayr.1_Missense_Mutation_p.M715I|SCN5A_uc010hhj.1_Missense_Mutation_p.M326I	p.M715I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2339	-	Medulloblastoma(35;0.163)		715			Helical; Name=S1 of repeat II; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2145G>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307297	0.40795	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96427	-3.93;-3.96;-3.96;-3.95;-3.96;-3.93;-3.96;-4.01;-3.95;-3.94	4.68	4.68	0.58851	.	0.122213	0.85682	D	0.000000	D	0.95881	0.8659	M	0.87547	2.89	0.58432	D	0.999998	B;B;P;B;B;B;B	0.38504	0.421;0.022;0.634;0.421;0.013;0.199;0.022	B;B;B;B;B;B;B	0.31101	0.058;0.006;0.124;0.058;0.006;0.073;0.014	D	0.96936	0.9684	10	0.87932	D	0	.	17.7531	0.88440	0.0:1.0:0.0:0.0	.	715;715;715;715;715;715;715	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	715	ENSP00000398962:M715I;ENSP00000398266:M715I;ENSP00000410257:M715I;ENSP00000388797:M715I;ENSP00000397915:M715I;ENSP00000416634:M715I;ENSP00000328968:M715I;ENSP00000399524:M715I;ENSP00000403355:M715I;ENSP00000413996:M715I	ENSP00000328968:M715I	M	-	3	0	SCN5A	38614341	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	7.525000	0.81892	2.440000	0.82611	0.491000	0.48974	ATG		PASS	0.542	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		79	17	79	17	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39229920	39229920	+	Silent	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:39229920A>G	ENST00000340369.3	-	2	1245	c.1017T>C	c.(1015-1017)ggT>ggC	p.G339G	XIRP1_ENST00000396251.1_Silent_p.G339G|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	339					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.G339G(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)		GAACATCTGGACCAGGTGGGA	0.582																																						uc003cjk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(1015-1017)GGT>GGC		xin actin-binding repeat containing 1							77.0	86.0	83.0					3																	39229920		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229920A>G	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.1017T>C	3.37:g.39229920A>G						XIRP1_uc003cji.2_Silent_p.G339G|XIRP1_uc003cjj.2_Intron	p.G339G	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1238	-			339					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1017T>C	CCDS2683.1																																																																																				PASS	0.582	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		90	25	90	25	---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41746590	41746590	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:41746590T>C	ENST00000301831.4	-	27	3202	c.2740A>G	c.(2740-2742)Ata>Gta	p.I914V		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	914					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I66V(1)|p.I914V(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACTGTATTATTGCTTCAAAA	0.313																																						uc003ckv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2740-2742)ATA>GTA		unc-51-like kinase 4							99.0	94.0	96.0					3																	41746590		1824	4085	5909	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41746590T>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2740A>G	3.37:g.41746590T>C	ENSP00000301831:p.Ile914Val						p.I914V	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	27	2941	-			914					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2740A>G	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	7.072	0.568495	0.13560	.	.	ENSG00000168038	ENST00000301831	T	0.67698	-0.28	5.12	-1.82	0.07857	Armadillo-like helical (1);Armadillo-type fold (1);	0.471102	0.17113	N	0.186524	T	0.33118	0.0852	N	0.02158	-0.66	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12863	-1.0531	10	0.12103	T	0.63	.	12.0238	0.53358	0.0:0.5612:0.0:0.4388	.	914	Q96C45	ULK4_HUMAN	V	914	ENSP00000301831:I914V	ENSP00000301831:I914V	I	-	1	0	ULK4	41721594	0.007000	0.16637	0.788000	0.31933	0.694000	0.40290	-0.294000	0.08309	-0.258000	0.09446	0.482000	0.46254	ATA		PASS	0.313	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		58	20	58	20	---	---	---	---
TGM4	7047	broad.mit.edu	37	3	44938287	44938287	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:44938287G>T	ENST00000296125.4	+	6	704	c.636G>T	c.(634-636)gtG>gtT	p.V212V	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	212					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V212V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCGTGCTGGTGTGCAGGGCCA	0.493																																						uc003coc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(634-636)GTG>GTT		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						121.0	110.0	114.0					3																	44938287		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44938287G>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.636G>T	3.37:g.44938287G>T						TGM4_uc003cob.2_RNA	p.V212V	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	6	709	+			212					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.636G>T	CCDS2723.1																																																																																				PASS	0.493	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		4	99	4	99	---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47449059	47449059	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:47449059C>A	ENST00000265562.4	+	12	1065	c.988C>A	c.(988-990)Ctt>Att	p.L330I	PTPN23_ENST00000431726.1_Missense_Mutation_p.L204I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	330	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.L330I(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTGGACACTCTTCAGCCTGT	0.602																																						uc003crf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(988-990)CTT>ATT		protein tyrosine phosphatase, non-receptor type							89.0	91.0	91.0					3																	47449059		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47449059C>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.988C>A	3.37:g.47449059C>A	ENSP00000265562:p.Leu330Ile					PTPN23_uc011baw.1_Missense_Mutation_p.L295I|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.L200I	p.L330I	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1084	+			330			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.988C>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561898	0.65538	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.24723	1.84	5.09	5.09	0.68999	BRO1 domain (3);	0.000000	0.64402	D	0.000001	T	0.35711	0.0941	L	0.39397	1.21	0.58432	D	0.999999	B;D	0.53462	0.022;0.96	P;P	0.59643	0.498;0.861	T	0.01930	-1.1245	10	0.45353	T	0.12	-21.0395	11.4982	0.50422	0.0:0.9146:0.0:0.0854	.	204;330	B4DST5;Q9H3S7	.;PTN23_HUMAN	I	295;330	ENSP00000265562:L330I	ENSP00000265562:L330I	L	+	1	0	PTPN23	47424063	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	5.749000	0.68704	2.633000	0.89246	0.655000	0.94253	CTT		PASS	0.602	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		4	110	4	110	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62739269	62739269	+	Nonsense_Mutation	SNP	G	G	T	rs369749881		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:62739269G>T	ENST00000383710.4	-	3	1084	c.735C>A	c.(733-735)taC>taA	p.Y245*	CADPS_ENST00000283269.9_Nonsense_Mutation_p.Y245*|CADPS_ENST00000490353.2_Nonsense_Mutation_p.Y245*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.Y245*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	245					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.Y245*(2)		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)		CTTCTCCACGGTAGATGGCAT	0.567																																						uc003dll.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(733-735)TAC>TAA		Ca2+-dependent secretion activator isoform 1							61.0	60.0	61.0					3																	62739269		2203	4300	6503	SO:0001587	stop_gained	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62739269G>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.735C>A	3.37:g.62739269G>T	ENSP00000373215:p.Tyr245*					CADPS_uc003dlm.2_Nonsense_Mutation_p.Y245*|CADPS_uc003dln.2_Nonsense_Mutation_p.Y245*	p.Y245*	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)	3	1095	-		Lung SC(41;0.0452)	245					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Nonsense_Mutation	SNP	ENST00000383710.4	37	c.735C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	41	8.658929	0.98903	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	.	.	.	5.88	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7859	0.52043	0.1403:0.0:0.8597:0.0	.	.	.	.	X	245	.	ENSP00000283269:Y245X	Y	-	3	2	CADPS	62714309	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.168000	0.58216	1.489000	0.48450	0.655000	0.94253	TAC		PASS	0.567	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		51	16	51	16	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65342327	65342327	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:65342327C>T	ENST00000402939.2	-	23	4114	c.4115G>A	c.(4114-4116)cGg>cAg	p.R1372Q	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1401					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.R1372Q(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCAGAGACCGTCTCCGCCG	0.711																																						uc003dmn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(4114-4116)CGG>CAG		membrane associated guanylate kinase, WW and PDZ							27.0	32.0	30.0					3																	65342327		2203	4299	6502	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342327C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4115G>A	3.37:g.65342327C>T	ENSP00000385450:p.Arg1372Gln					MAGI1_uc003dmm.2_3'UTR	p.R1372Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4641	-		Lung NSC(201;0.0016)	1401			Poly-Arg.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4115G>A	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	5.425	0.263514	0.10294	.	.	ENSG00000151276	ENST00000402939	T	0.11712	2.75	5.31	5.31	0.75309	.	0.323062	0.27402	N	0.019539	T	0.07954	0.0199	L	0.29908	0.895	0.21897	N	0.999483	B	0.24132	0.098	B	0.15870	0.014	T	0.31971	-0.9924	10	0.14252	T	0.57	-18.2943	12.3409	0.55093	0.0:0.9224:0.0:0.0775	.	1372	Q96QZ7-2	.	Q	1372	ENSP00000385450:R1372Q	ENSP00000385450:R1372Q	R	-	2	0	MAGI1	65317367	0.113000	0.22115	0.906000	0.35671	0.136000	0.21042	1.160000	0.31761	2.479000	0.83701	0.655000	0.94253	CGG		PASS	0.711	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		30	11	30	11	---	---	---	---
HTR1F	3355	broad.mit.edu	37	3	88040764	88040764	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:88040764C>A	ENST00000319595.4	+	1	919	c.865C>A	c.(865-867)Cgg>Agg	p.R289R		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	289					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R289R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TACAAGAGAACGGAAAGCAGC	0.378																																						uc003dqr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(865-867)CGG>AGG		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						65.0	75.0	72.0					3																	88040764		2203	4300	6503	SO:0001819	synonymous_variant	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040764C>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.865C>A	3.37:g.88040764C>A							p.R289R	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	1023	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	289			Cytoplasmic (By similarity).			Silent	SNP	ENST00000319595.4	37	c.865C>A	CCDS2920.1																																																																																				PASS	0.378	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		5	13	5	13	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98188508	98188508	+	Missense_Mutation	SNP	G	G	A	rs538020076		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:98188508G>A	ENST00000332650.5	+	1	185	c.88G>A	c.(88-90)Gtg>Atg	p.V30M		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V30M(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGTTTGTGGTGTTCTTTGC	0.428																																						uc003dsm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(88-90)GTG>ATG		olfactory receptor, family 5, subfamily K,							121.0	119.0	120.0					3																	98188508		2203	4296	6499	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188508G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.88G>A	3.37:g.98188508G>A	ENSP00000373193:p.Val30Met						p.V30M	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	88	+			30			Helical; Name=1; (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.88G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810751	0.50421	.	.	ENSG00000232382	ENST00000332650	T	0.03035	4.07	5.05	3.21	0.36854	.	0.194763	0.24886	N	0.034817	T	0.07954	0.0199	L	0.49699	1.58	0.09310	N	1	D	0.56287	0.975	P	0.60286	0.872	T	0.19451	-1.0305	10	0.40728	T	0.16	-4.8678	3.2364	0.06766	0.0948:0.1765:0.5462:0.1826	.	30	Q8NHB7	OR5K1_HUMAN	M	30	ENSP00000373193:V30M	ENSP00000373193:V30M	V	+	1	0	OR5K1	99671198	0.000000	0.05858	0.501000	0.27601	0.875000	0.50365	-0.149000	0.10204	1.088000	0.41272	0.467000	0.42956	GTG		PASS	0.428	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			226	154	226	154	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101370029	101370029	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:101370029T>C	ENST00000312938.4	-	11	3723	c.3143A>G	c.(3142-3144)cAt>cGt	p.H1048R		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1048					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.H1048R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTGAAATATGTGCTACCTC	0.353																																						uc003dve.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3142-3144)CAT>CGT		zinc finger protein ZNF-U69274							129.0	128.0	129.0					3																	101370029		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370029T>C	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3143A>G	3.37:g.101370029T>C	ENSP00000326200:p.His1048Arg						p.H1048R	NM_014415	NP_055230	O95625	ZBT11_HUMAN			11	3373	-			1048					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.3143A>G	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224072	0.79576	.	.	ENSG00000066422	ENST00000312938	T	0.13196	2.61	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	L	0.29908	0.895	0.80722	D	1	P	0.45126	0.851	B	0.41946	0.371	T	0.01670	-1.1299	10	0.72032	D	0.01	-15.8705	15.7028	0.77555	0.0:0.0:0.0:1.0	.	1048	O95625	ZBT11_HUMAN	R	1048	ENSP00000326200:H1048R	ENSP00000326200:H1048R	H	-	2	0	ZBTB11	102852719	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.456000	0.80751	2.174000	0.68829	0.454000	0.30748	CAT		PASS	0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		211	170	211	170	---	---	---	---
FSTL1	11167	broad.mit.edu	37	3	120130804	120130804	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:120130804C>A	ENST00000295633.3	-	4	551	c.195G>T	c.(193-195)gtG>gtT	p.V65V	FSTL1_ENST00000424703.2_Silent_p.V30V	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	65	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V65V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TACTGCCACACACAGGCCTCT	0.473																																						uc003eds.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(193-195)GTG>GTT		follistatin-like 1 precursor							210.0	171.0	184.0					3																	120130804		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120130804C>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.195G>T	3.37:g.120130804C>A						FSTL1_uc011bjh.1_Silent_p.V30V|FSTL1_uc010hrb.2_Silent_p.V65V	p.V65V	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	370	-			65			Kazal-like.		A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.195G>T	CCDS2998.1																																																																																				PASS	0.473	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		31	138	31	138	---	---	---	---
CASR	846	broad.mit.edu	37	3	122003495	122003495	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:122003495G>T	ENST00000490131.1	+	7	3066	c.2694G>T	c.(2692-2694)cgG>cgT	p.R898R	CASR_ENST00000498619.1_Silent_p.R908R|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Silent_p.R898R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	898	Interaction with RNF19A.		R -> Q (in EIG8). {ECO:0000269|PubMed:18756473}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R898R(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCGCAAGCGGTCCAGCAGCC	0.662																																						uc003eev.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2692-2694)CGG>CGT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						31.0	32.0	32.0					3																	122003495		2203	4299	6502	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003495G>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2694G>T	3.37:g.122003495G>T						CASR_uc003eew.3_Silent_p.R908R	p.R898R	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3066	+			898		R -> Q (in IGE8).	Cytoplasmic (Potential).|Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2694G>T	CCDS3010.1																																																																																				PASS	0.662	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		28	46	28	46	---	---	---	---
C3orf56	285311	broad.mit.edu	37	3	126915570	126915570	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:126915570C>A	ENST00000398112.1	+	2	282	c.42C>A	c.(40-42)gtC>gtA	p.V14V		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	14								p.V14V(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AGCAGAAGGTCCGCCGTGCCT	0.597																																						uc003eji.1																			1	Substitution - coding silent(1)		lung(1)								c.(40-42)GTC>GTA		RecName: Full=Putative uncharacterized protein C3orf56;							32.0	41.0	38.0					3																	126915570		2065	4196	6261	SO:0001819	synonymous_variant	0							g.chr3:126915570C>A	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.42C>A	3.37:g.126915570C>A							p.V14V							2	282	+								B2RNW5	Silent	SNP	ENST00000398112.1	37	c.42C>A																																																																																					PASS	0.597	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			9	35	9	35	---	---	---	---
ABTB1	80325	broad.mit.edu	37	3	127399246	127399246	+	Silent	SNP	C	C	T	rs372495700		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:127399246C>T	ENST00000232744.8	+	12	1451	c.1365C>T	c.(1363-1365)agC>agT	p.S455S	ABTB1_ENST00000393363.3_Silent_p.S313S|ABTB1_ENST00000468137.1_Silent_p.S313S|ABTB1_ENST00000453791.2_Silent_p.S313S					ankyrin repeat and BTB (POZ) domain containing 1									p.S455S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGACCTACAGCGCCATAGAGG	0.682																																						uc003ejt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1363-1365)AGC>AGT		ankyrin repeat and BTB (POZ) domain containing 1		C	,	0,4400		0,0,2200	31.0	30.0	31.0		939,1365	-2.9	0.9	3		31	2,8592		0,2,4295	no	coding-synonymous,coding-synonymous	ABTB1	NM_032548.3,NM_172027.2	,	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	,	313/337,455/479	127399246	2,12992	2200	4297	6497	SO:0001819	synonymous_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127399246C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1365C>T	3.37:g.127399246C>T						ABTB1_uc003ejr.2_Silent_p.S313S|ABTB1_uc003ejs.2_Silent_p.S430S|ABTB1_uc003eju.2_Silent_p.S313S|ABTB1_uc010hsm.2_Silent_p.S182S	p.S455S	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			12	1453	+			455			Potential.			Silent	SNP	ENST00000232744.8	37	c.1365C>T	CCDS3045.1																																																																																				PASS	0.682	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		7	21	7	21	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130174460	130174460	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:130174460T>G	ENST00000432398.2	+	37	7234	c.6740T>G	c.(6739-6741)aTc>aGc	p.I2247S	COL6A5_ENST00000265379.6_Missense_Mutation_p.I2247S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2247	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I286S(1)|p.I2247S(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAATTAATGATCAATTATGAA	0.348																																						uc010htj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(6739-6741)ATC>AGC		collagen, type XXIX, alpha 1							57.0	55.0	56.0					3																	130174460		1810	4069	5879	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174460T>G	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6740T>G	3.37:g.130174460T>G	ENSP00000390895:p.Ile2247Ser					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.I286S	p.I2247S	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7234	+			2247			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6740T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.026|4.026	0.002362|0.002362	0.07819|0.07819	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;T;T	.|0.88664	.|-2.34;-2.41;-0.79;-0.59	4.38|4.38	-1.95|-1.95	0.07548|0.07548	.|.	.|1.176830	.|0.06558	.|N	.|0.746247	T|T	0.77928|0.77928	0.4204|0.4204	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.58702|0.58702	-0.7590|-0.7590	5|10	.|0.30078	.|T	.|0.28	.|.	0.4988|0.4988	0.00576|0.00576	0.181:0.2046:0.1614:0.453|0.181:0.2046:0.1614:0.453	.|.	.|2247;2247	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	E|S	498|2247;2247;190;82	.|ENSP00000390895:I2247S;ENSP00000265379:I2247S;ENSP00000362250:I190S;ENSP00000424968:I82S	.|ENSP00000265379:I2247S	D|I	+|+	3|2	2|0	COL6A5|COL6A5	131657150|131657150	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.179000|-1.179000	0.03090|0.03090	-0.385000|-0.385000	0.07833|0.07833	-0.451000|-0.451000	0.05528|0.05528	GAT|ATC		PASS	0.348	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		34	101	34	101	---	---	---	---
AGTR1	185	broad.mit.edu	37	3	148459669	148459669	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:148459669G>A	ENST00000497524.1	+	2	1238	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	AGTR1_ENST00000542281.1_Missense_Mutation_p.A283T|AGTR1_ENST00000349243.3_Missense_Mutation_p.A283T|AGTR1_ENST00000461609.1_Missense_Mutation_p.A283T|AGTR1_ENST00000475347.1_Missense_Mutation_p.A283T|AGTR1_ENST00000418473.2_Missense_Mutation_p.A283T|AGTR1_ENST00000402260.1_Missense_Mutation_p.A283T|AGTR1_ENST00000404754.2_Missense_Mutation_p.A283T|AGTR1_ENST00000474935.1_Missense_Mutation_p.A283T	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	283					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.A283T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TGTGGACACGGCCATGCCTAT	0.363																																						uc003ewg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GCC>ACC		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						103.0	96.0	98.0					3																	148459669		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459669G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.847G>A	3.37:g.148459669G>A	ENSP00000419422:p.Ala283Thr					AGTR1_uc003ewh.2_Missense_Mutation_p.A283T|AGTR1_uc003ewi.2_Missense_Mutation_p.A283T|AGTR1_uc003ewj.2_Missense_Mutation_p.A283T|AGTR1_uc003ewk.2_Missense_Mutation_p.A283T	p.A283T	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1293	+			283			Helical; Name=7; (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.847G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275945	0.80580	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.118100	0.56097	D	0.000029	T	0.66268	0.2772	M	0.72894	2.215	0.80722	D	1	P	0.43633	0.813	P	0.54664	0.758	T	0.66858	-0.5817	10	0.72032	D	0.01	-15.5318	19.9759	0.97304	0.0:0.0:1.0:0.0	.	283	P30556	AGTR1_HUMAN	T	283	ENSP00000419422:A283T;ENSP00000273430:A283T;ENSP00000443186:A283T;ENSP00000398832:A283T;ENSP00000385612:A283T;ENSP00000419783:A283T;ENSP00000418084:A283T;ENSP00000418851:A283T;ENSP00000385641:A283T	ENSP00000273430:A283T	A	+	1	0	AGTR1	149942359	1.000000	0.71417	0.963000	0.40424	0.486000	0.33341	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	GCC		PASS	0.363	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			5	336	5	336	---	---	---	---
ARHGEF26	26084	broad.mit.edu	37	3	153870603	153870603	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:153870603A>T	ENST00000356448.4	+	6	1653	c.1369A>T	c.(1369-1371)Agc>Tgc	p.S457C	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S457C	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	457	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S457C(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ATATTTACTCAGCTTGGAGAT	0.299																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(1369-1371)AGC>TGC		Src homology 3 domain-containing guanine							42.0	36.0	38.0					3																	153870603		1813	4065	5878	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153870603A>T	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1369A>T	3.37:g.153870603A>T	ENSP00000348828:p.Ser457Cys					SGEF_uc011boh.1_Missense_Mutation_p.S457C	p.S457C	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		6	1580	+			457			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1369A>T	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809210	0.90707	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.65364	-0.15;-0.15	5.8	5.8	0.92144	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82586	0.5069	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.86106	0.1559	10	0.87932	D	0	-19.9307	16.1506	0.81618	1.0:0.0:0.0:0.0	.	457;457	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	C	457	ENSP00000348828:S457C;ENSP00000423418:S457C	ENSP00000348828:S457C	S	+	1	0	ARHGEF26	155353293	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.210000	0.95106	2.206000	0.71126	0.528000	0.53228	AGC		PASS	0.299	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		7	13	7	13	---	---	---	---
C3orf33	285315	broad.mit.edu	37	3	155485402	155485402	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:155485402C>G	ENST00000340171.2	-	4	477	c.379G>C	c.(379-381)Ggg>Cgg	p.G127R	C3orf33_ENST00000534941.1_Missense_Mutation_p.G84R			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	127					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.G78R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGCCTTCCCAGTTTCAGCG	0.418																																						uc003fal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GGG>CGG		hypothetical protein LOC285315							118.0	100.0	106.0					3																	155485402		1880	4112	5992	SO:0001583	missense	285315						hydrolase activity, acting on ester bonds|nucleic acid binding	g.chr3:155485402C>G	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.379G>C	3.37:g.155485402C>G	ENSP00000342512:p.Gly127Arg					C3orf33_uc003fam.1_Missense_Mutation_p.G127R	p.G84R	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	520	-			84					A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37	c.250G>C		.	.	.	.	.	.	.	.	.	.	C	23.9	4.465920	0.84425	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.58797	0.31;0.31	5.28	5.28	0.74379	Staphylococcal nuclease (SNase-like) (1);	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81342	-0.0976	10	0.87932	D	0	-8.8781	17.7024	0.88299	0.0:1.0:0.0:0.0	.	127	Q6P1S2	CC033_HUMAN	R	84;127;127	ENSP00000445446:G84R;ENSP00000342512:G127R	ENSP00000342512:G127R	G	-	1	0	C3orf33	156968096	0.996000	0.38824	0.933000	0.37362	0.979000	0.70002	5.399000	0.66314	2.458000	0.83093	0.591000	0.81541	GGG		PASS	0.418	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		18	31	18	31	---	---	---	---
SI	6476	broad.mit.edu	37	3	164785163	164785163	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:164785163G>T	ENST00000264382.3	-	6	662	c.600C>A	c.(598-600)agC>agA	p.S200R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	200	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.S200R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAACTTGGATGCTAAATGGGT	0.303										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(598-600)AGC>AGA		sucrase-isomaltase	Acarbose(DB00284)						101.0	101.0	101.0					3																	164785163		2203	4298	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164785163G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.600C>A	3.37:g.164785163G>T	ENSP00000264382:p.Ser200Arg	HNSCC(35;0.089)					p.S200R	NM_001041	NP_001032	P14410	SUIS_HUMAN			6	662	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	200			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.600C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781227	0.31502	.	.	ENSG00000090402	ENST00000264382	T	0.13901	2.55	5.25	2.41	0.29592	Glycoside hydrolase-type carbohydrate-binding (1);	0.178930	0.64402	D	0.000011	T	0.32941	0.0846	M	0.83312	2.635	0.31687	N	0.642354	D	0.89917	1.0	D	0.74674	0.984	T	0.35375	-0.9791	10	0.62326	D	0.03	.	5.2657	0.15597	0.2978:0.0:0.5732:0.129	.	200	P14410	SUIS_HUMAN	R	200	ENSP00000264382:S200R	ENSP00000264382:S200R	S	-	3	2	SI	166267857	1.000000	0.71417	0.997000	0.53966	0.335000	0.28730	0.560000	0.23500	0.283000	0.22279	-0.242000	0.12053	AGC		PASS	0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		138	98	138	98	---	---	---	---
LRRC31	79782	broad.mit.edu	37	3	169558000	169558000	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:169558000C>A	ENST00000316428.5	-	9	1486	c.1429G>T	c.(1429-1431)Gtg>Ttg	p.V477L	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.V421L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	477								p.V477L(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AGGAACCGCACGTTTTGGCAG	0.473																																						uc003fgc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1429-1431)GTG>TTG		leucine rich repeat containing 31							141.0	131.0	134.0					3																	169558000		1996	4162	6158	SO:0001583	missense	79782							g.chr3:169558000C>A	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1429G>T	3.37:g.169558000C>A	ENSP00000325978:p.Val477Leu					LRRC31_uc010hwp.1_Missense_Mutation_p.V421L	p.V477L	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1506	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		477					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1429G>T	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.271779	0.00257	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.44482	0.92;0.92	4.24	-3.22	0.05125	.	0.625852	0.15786	N	0.244669	T	0.13286	0.0322	N	0.11201	0.11	0.09310	N	0.999998	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.006	T	0.26744	-1.0094	10	0.02654	T	1	-28.7994	1.4801	0.02435	0.4302:0.1918:0.2234:0.1546	.	421;477	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	L	477;421	ENSP00000325978:V477L;ENSP00000264676:V421L	ENSP00000264676:V421L	V	-	1	0	LRRC31	171040694	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.522000	0.06237	-1.104000	0.03015	-0.266000	0.10368	GTG		PASS	0.473	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		111	109	111	109	---	---	---	---
ADIPOQ	9370	broad.mit.edu	37	3	186572425	186572425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:186572425G>T	ENST00000412955.2	+	3	808	c.667G>T	c.(667-669)Gga>Tga	p.G223*	ADIPOQ_ENST00000444204.2_Nonsense_Mutation_p.G223*|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Nonsense_Mutation_p.G223*			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	223	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)	p.G223*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGAGCGTAATGGACTCTATGC	0.532																																						uc003fra.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(667-669)GGA>TGA		adiponectin precursor							88.0	88.0	88.0					3																	186572425		2203	4300	6503	SO:0001587	stop_gained	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186572425G>T	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.667G>T	3.37:g.186572425G>T	ENSP00000405611:p.Gly223*					ADIPOQ_uc010hyy.2_Nonsense_Mutation_p.G223*	p.G223*	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	3	751	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		223			C1q.		Q58EX9	Nonsense_Mutation	SNP	ENST00000412955.2	37	c.667G>T	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319259	0.95682	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.4057	0.83669	0.0:0.0:1.0:0.0	.	.	.	.	X	223	.	ENSP00000320709:G223X	G	+	1	0	ADIPOQ	188055119	1.000000	0.71417	0.595000	0.28798	0.547000	0.35210	8.009000	0.88606	2.660000	0.90430	0.655000	0.94253	GGA		PASS	0.532	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		82	180	82	180	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186959278	186959278	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:186959278A>C	ENST00000337774.5	-	10	1683	c.1294T>G	c.(1294-1296)Tgc>Ggc	p.C432G	MASP1_ENST00000392472.2_Missense_Mutation_p.C319G|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.C432G	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	432	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.C432G(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTGGAAGGCAGGTGGGTAGG	0.507																																						uc003frh.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|liver(1)	4						c.(1294-1296)TGC>GGC		mannan-binding lectin serine protease 1 isoform							148.0	141.0	143.0					3																	186959278		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186959278A>C	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1294T>G	3.37:g.186959278A>C	ENSP00000336792:p.Cys432Gly					MASP1_uc003fri.2_Missense_Mutation_p.C432G|MASP1_uc003frj.2_Missense_Mutation_p.C401G	p.C432G	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	10	1626	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		432			Sushi 2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1294T>G	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088045	0.76642	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896	D;D;D	0.98747	-5.11;-3.12;-3.12	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.997;1.0	D	0.98735	1.0714	10	0.66056	D	0.02	.	15.3511	0.74389	1.0:0.0:0.0:0.0	.	319;432;432	P48740-4;P48740-2;P48740	.;.;MASP1_HUMAN	G	432;432;319;319	ENSP00000336792:C432G;ENSP00000296280:C432G;ENSP00000376264:C319G	ENSP00000296280:C432G	C	-	1	0	MASP1	188441972	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.100000	0.76989	2.217000	0.71921	0.533000	0.62120	TGC		PASS	0.507	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		81	237	81	237	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195453329	195453329	+	Nonsense_Mutation	SNP	C	C	T	rs73203946	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:195453329C>T	ENST00000447234.2	+	2	1981	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	MUC20_ENST00000445522.2_Nonsense_Mutation_p.R584*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.R619*|MUC20_ENST00000320736.6_Nonsense_Mutation_p.R448*	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	619	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.R619*(2)|p.R430*(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAACAGCAGCCGAGGGACGAA	0.622																																						uc010hzo.2																			3	Substitution - Nonsense(3)		lung(2)|upper_aerodigestive_tract(1)		0						c.(1342-1344)CGA>TGA		mucin 20 isoform L							78.0	89.0	86.0					3																	195453329		2100	4225	6325	SO:0001587	stop_gained	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453329C>T	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1855C>T	3.37:g.195453329C>T	ENSP00000414350:p.Arg619*					MUC20_uc010hzp.2_Nonsense_Mutation_p.R413*|MUC20_uc011bte.1_RNA	p.R448*	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1468	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	619			Involved in oligomerization.|Thr-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Nonsense_Mutation	SNP	ENST00000447234.2	37	c.1342C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.315824|6.315824	0.97467|0.97467	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000423938|ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.|.	.|.	.|.	4.83|4.83	-0.468|-0.468	0.12146|0.12146	.|.	.|2.446820	.|0.01784	.|N	.|0.031899	T|.	0.07234|.	0.0183|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	3|.	.|0.02654	.|T	.|1	4.3371|4.3371	0.8336|0.8336	0.01135|0.01135	0.3206:0.3364:0.1565:0.1865|0.3206:0.3364:0.1565:0.1865	.|.	.|.	.|.	.|.	L|X	30|430;619;448;619;584	.|.	.|ENSP00000325431:R448X	P|R	+|+	2|1	0|2	MUC20|MUC20	196939000|196939000	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.013000|-0.013000	0.12678|0.12678	0.057000|0.057000	0.16193|0.16193	0.655000|0.655000	0.94253|0.94253	CCG|CGA		PASS	0.622	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		6	251	6	251	---	---	---	---
PAK2	5062	broad.mit.edu	37	3	196547330	196547330	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:196547330G>T	ENST00000327134.3	+	13	1564	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.V415F(1)|p.V414V(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CACCAGAGGTGGTTACACGGA	0.488																																						uc003fwy.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|lung(1)	2						c.(1240-1242)GTG>GTT		p21-activated kinase 2							155.0	130.0	138.0					3																	196547330		2203	4300	6503	SO:0001819	synonymous_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196547330G>T	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1242G>T	3.37:g.196547330G>T							p.V414V	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	13	1564	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		414			Protein kinase.		Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	c.1242G>T	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139225	0.21205	.	.	ENSG00000180370	ENST00000426668	.	.	.	4.69	3.8	0.43715	.	.	.	.	.	T	0.60753	0.2293	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58418	-0.7640	4	.	.	.	.	10.7285	0.46083	0.0739:0.1311:0.795:0.0	.	.	.	.	L	157	.	.	W	+	2	0	PAK2	198031727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.432000	0.34936	1.303000	0.44873	0.655000	0.94253	TGG		PASS	0.488	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		65	200	65	200	---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197707242	197707242	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr3:197707242G>T	ENST00000330198.4	+	6	617	c.595G>T	c.(595-597)Ggt>Tgt	p.G199C	LMLN_ENST00000482695.1_Missense_Mutation_p.G147C|LMLN_ENST00000332636.5_Missense_Mutation_p.G147C|LMLN_ENST00000420910.2_Missense_Mutation_p.G199C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	199					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G199C(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TGGAGCAGTGGGTGTGCCAGA	0.527																																						uc011buo.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(595-597)GGT>TGT		leishmanolysin-like isoform 2							143.0	135.0	138.0					3																	197707242		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707242G>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.595G>T	3.37:g.197707242G>T	ENSP00000328829:p.Gly199Cys					LMLN_uc003fyt.2_Missense_Mutation_p.G147C|LMLN_uc010iar.2_Missense_Mutation_p.G199C|LMLN_uc010ias.2_Missense_Mutation_p.G147C|LMLN_uc003fyu.2_5'UTR	p.G199C	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	617	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	199					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.595G>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620061	0.87460	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.49139	0.81;0.8;0.8;0.79;0.81	4.72	4.72	0.59763	.	0.175883	0.49916	D	0.000134	T	0.57489	0.2057	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.992;1.0;0.996	D;P;D;P	0.70935	0.95;0.896;0.971;0.882	T	0.60556	-0.7240	10	0.72032	D	0.01	-12.9754	15.6129	0.76740	0.0:0.0:1.0:0.0	.	199;147;199;147	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	C	147;199;127;199;147	ENSP00000418324:G147C;ENSP00000328829:G199C;ENSP00000390872:G127C;ENSP00000410926:G199C;ENSP00000328611:G147C	ENSP00000328829:G199C	G	+	1	0	LMLN	199191639	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.919000	0.75793	2.635000	0.89317	0.650000	0.86243	GGT		PASS	0.527	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		47	298	47	298	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2695363	2695363	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:2695363G>C	ENST00000324666.5	+	14	2332	c.1981G>C	c.(1981-1983)Gcc>Ccc	p.A661P	FAM193A_ENST00000382839.3_Missense_Mutation_p.A661P|FAM193A_ENST00000502458.1_Missense_Mutation_p.A683P|FAM193A_ENST00000545951.1_Missense_Mutation_p.A661P|FAM193A_ENST00000505311.1_Missense_Mutation_p.A661P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	661								p.A661P(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTCGGCCCCAGCCGCCCCGAG	0.607																																						uc010icl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1981-1983)GCC>CCC		hypothetical protein LOC8603							74.0	87.0	83.0					4																	2695363		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2695363G>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1981G>C	4.37:g.2695363G>C	ENSP00000324587:p.Ala661Pro					FAM193A_uc010ick.2_Missense_Mutation_p.A861P|FAM193A_uc003gfd.2_Missense_Mutation_p.A661P|FAM193A_uc011bvm.1_Missense_Mutation_p.A683P|FAM193A_uc011bvn.1_Missense_Mutation_p.A661P|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.A515P	p.A661P	NM_003704	NP_003695	P78312	F193A_HUMAN			14	2332	+			661					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1981G>C	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439166	0.25900	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.85	3.07	0.35406	.	0.597985	0.18029	N	0.153977	T	0.53045	0.1772	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P	0.49559	0.874;0.874;0.874;0.925;0.731	B;B;P;P;B	0.48227	0.369;0.369;0.571;0.466;0.369	T	0.43393	-0.9394	10	0.56958	D	0.05	-6.0509	7.0081	0.24848	0.1151:0.0:0.7422:0.1427	.	661;683;661;683;661	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	P	661;661;661;683;515	ENSP00000372290:A661P;ENSP00000324587:A661P;ENSP00000443617:A661P;ENSP00000427505:A683P;ENSP00000427260:A515P	ENSP00000324587:A661P	A	+	1	0	FAM193A	2665161	0.081000	0.21417	0.001000	0.08648	0.029000	0.11900	1.819000	0.39022	0.323000	0.23307	-0.302000	0.09304	GCC		PASS	0.607	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		63	39	63	39	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22820373	22820373	+	RNA	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:22820373G>A	ENST00000503442.1	+	0	407				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.V413I(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAATCTTCAAGTATATTGTGC	0.393																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1237-1239)GTA>ATA		cytosolic beta-glucosidase isoform a							71.0	63.0	65.0					4																	22820373		1846	4090	5936			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22820373G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820373G>A						GBA3_uc010iep.2_Missense_Mutation_p.V106I|GBA3_uc011bxo.1_Missense_Mutation_p.V414I	p.V413I	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			5	1328	+			413					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.1237G>A																																																																																					PASS	0.393	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			20	8	20	8	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44449871	44449871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:44449871G>A	ENST00000360029.3	-	1	953	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	224					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.Q224*(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGTCGGCCTGGTTGTCGCGC	0.716										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(670-672)CAG>TAG		potassium channel tetramerisation domain							13.0	12.0	12.0					4																	44449871		2197	4289	6486	SO:0001587	stop_gained	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449871G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.670C>T	4.37:g.44449871G>A	ENSP00000353129:p.Gln224*	HNSCC(17;0.042)					p.Q224*	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	954	-			224					A2RU39	Nonsense_Mutation	SNP	ENST00000360029.3	37	c.670C>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	39	7.755105	0.98471	.	.	ENSG00000183783	ENST00000360029	.	.	.	3.86	3.86	0.44501	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	14.9442	0.71016	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000353129:Q224X	Q	-	1	0	KCTD8	44144628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.414000	0.97362	1.997000	0.58415	0.484000	0.47621	CAG		PASS	0.716	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	13	4	13	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55961023	55961023	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:55961023C>A	ENST00000263923.4	-	21	3212	c.2917G>T	c.(2917-2919)Gcc>Tcc	p.A973S	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)	973	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.A973S(3)		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)	CCAGAGCTGGCTGAGCTCTGG	0.532			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		3	Substitution - Missense(3)	p.A973S(1)	lung(2)|large_intestine(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2917-2919)GCC>TCC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						130.0	123.0	125.0					4																	55961023		2203	4300	6503	SO:0001583	missense	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.chr4:55961023C>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.2917G>T	4.37:g.55961023C>A	ENSP00000263923:p.Ala973Ser	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.A973S	p.A973S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3219	-	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)		973			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2917G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936456	0.52972	.	.	ENSG00000128052	ENST00000263923	T	0.76578	-1.03	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.198079	0.48767	D	0.000180	T	0.60196	0.2250	N	0.11154	0.105	0.49389	D	0.999787	P	0.34837	0.472	B	0.33521	0.165	T	0.60239	-0.7302	10	0.16420	T	0.52	.	15.3582	0.74443	0.0:0.9315:0.0:0.0685	.	973	P35968	VGFR2_HUMAN	S	973	ENSP00000263923:A973S	ENSP00000263923:A973S	A	-	1	0	KDR	55655780	0.990000	0.36364	0.997000	0.53966	0.970000	0.65996	2.862000	0.48388	2.780000	0.95670	0.655000	0.94253	GCC		PASS	0.532	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			95	38	95	38	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55971008	55971008	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:55971008C>G	ENST00000263923.4	-	13	2084	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	597	Ig-like C2-type 6.				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.E597Q(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)	GTGGGCAACTCTCCCACATGG	0.468			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 - Missense(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.(1789-1791)GAG>CAG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						124.0	114.0	118.0					4																	55971008		2203	4300	6503	SO:0001583	missense	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.chr4:55971008C>G	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.1789G>C	4.37:g.55971008C>G	ENSP00000263923:p.Glu597Gln	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.E597Q|KDR_uc011bzx.1_Missense_Mutation_p.E597Q	p.E597Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2091	-	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)		597			Ig-like C2-type 6.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1789G>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	3.977	-0.007266	0.07773	.	.	ENSG00000128052	ENST00000263923	T	0.27256	1.68	5.58	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.605943	0.17662	N	0.166281	T	0.23727	0.0574	L	0.54323	1.7	0.09310	N	1	P;B	0.35272	0.493;0.257	B;B	0.35971	0.215;0.157	T	0.11012	-1.0605	10	0.20519	T	0.43	.	10.3002	0.43648	0.0:0.7892:0.1373:0.0735	.	597;597	P35968-2;P35968	.;VGFR2_HUMAN	Q	597	ENSP00000263923:E597Q	ENSP00000263923:E597Q	E	-	1	0	KDR	55665765	0.000000	0.05858	0.144000	0.22314	0.024000	0.10985	0.591000	0.23969	2.595000	0.87683	0.655000	0.94253	GAG		PASS	0.468	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			44	21	44	21	---	---	---	---
AMBN	258	broad.mit.edu	37	4	71472248	71472248	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:71472248C>A	ENST00000322937.6	+	13	1248	c.1145C>A	c.(1144-1146)gCt>gAt	p.A382D	AMBN_ENST00000449493.2_Missense_Mutation_p.A367D	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	382					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.A382D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACCCCAGCAGCTGCTGACCCA	0.562																																						uc003hfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1144-1146)GCT>GAT		ameloblastin precursor							66.0	65.0	66.0					4																	71472248		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472248C>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1145C>A	4.37:g.71472248C>A	ENSP00000313809:p.Ala382Asp						p.A382D	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1220	+			382					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.1145C>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.315130	0.00235	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.37752	1.18;1.18	5.79	0.869	0.19096	.	0.831332	0.10895	N	0.622320	T	0.17195	0.0413	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.34179	-0.9839	10	0.06757	T	0.87	5.132	5.4228	0.16409	0.3571:0.4622:0.1105:0.0702	.	382	Q9NP70	AMBN_HUMAN	D	382;381;367	ENSP00000313809:A382D;ENSP00000391234:A367D	ENSP00000313809:A382D	A	+	2	0	AMBN	71506837	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.415000	0.21181	-0.428000	0.07339	-0.795000	0.03280	GCT		PASS	0.562	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		3	60	3	60	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90856890	90856890	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:90856890A>G	ENST00000394980.1	+	7	2378	c.2059A>G	c.(2059-2061)Agt>Ggt	p.S687G	MMRN1_ENST00000264790.2_Missense_Mutation_p.S687G|MMRN1_ENST00000508372.1_Missense_Mutation_p.S429G|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	687					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.S687G(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCTGTCAATAGTCTAAATTT	0.348																																						uc003hst.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2059-2061)AGT>GGT		multimerin 1							52.0	53.0	52.0					4																	90856890		2203	4296	6499	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856890A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2059A>G	4.37:g.90856890A>G	ENSP00000378431:p.Ser687Gly					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.S429G	p.S687G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2130	+		Hepatocellular(203;0.114)	687			Potential.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2059A>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	4.678	0.126104	0.08931	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.65178	0.21;0.21;-0.14	5.06	2.58	0.30949	.	0.745393	0.13268	N	0.400767	T	0.44498	0.1296	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24977	-1.0145	10	0.21014	T	0.42	.	6.264	0.20915	0.6671:0.1353:0.1976:0.0	.	687	Q13201	MMRN1_HUMAN	G	687;687;429	ENSP00000378431:S687G;ENSP00000264790:S687G;ENSP00000426461:S429G	ENSP00000264790:S687G	S	+	1	0	MMRN1	91075913	0.001000	0.12720	0.005000	0.12908	0.856000	0.48823	1.279000	0.33191	0.439000	0.26476	0.533000	0.62120	AGT		PASS	0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		37	16	37	16	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104095953	104095953	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:104095953T>A	ENST00000265148.3	-	16	1676	c.1587A>T	c.(1585-1587)aaA>aaT	p.K529N	CENPE_ENST00000380026.3_Missense_Mutation_p.K529N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	529					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.K529N(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATTCTTTTCTTTTAATTTCA	0.308																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(1585-1587)AAA>AAT		centromere protein E							94.0	90.0	91.0					4																	104095953		2193	4293	6486	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104095953T>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1587A>T	4.37:g.104095953T>A	ENSP00000265148:p.Lys529Asn					CENPE_uc003hxc.1_Missense_Mutation_p.K529N	p.K529N	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	16	1677	-			529			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.1587A>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562046	0.27915	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.57907	0.37;0.37;0.37	5.5	2.72	0.32119	.	.	.	.	.	T	0.38799	0.1054	N	0.24115	0.695	0.31644	N	0.647667	P;B	0.44816	0.844;0.355	P;B	0.44772	0.46;0.057	T	0.45220	-0.9276	9	0.52906	T	0.07	.	5.1049	0.14779	0.1455:0.1996:0.0:0.6549	.	529;529	Q02224-3;Q02224	.;CENPE_HUMAN	N	529	ENSP00000265148:K529N;ENSP00000369365:K529N;ENSP00000423981:K529N	ENSP00000265148:K529N	K	-	3	2	CENPE	104315402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.633000	0.24598	0.905000	0.36596	0.528000	0.53228	AAA		PASS	0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				27	5	27	5	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114251625	114251625	+	Splice_Site	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:114251625G>C	ENST00000357077.4	+	27	3177	c.3124G>C	c.(3124-3126)Ggt>Cgt	p.G1042R	ANK2_ENST00000394537.3_Splice_Site_p.G1042R|ANK2_ENST00000506722.1_Splice_Site_p.G1033R|ANK2_ENST00000264366.6_Splice_Site_p.G1042R|ANK2_ENST00000509550.1_Splice_Site_p.G251R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1042	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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.G1042R(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)		TCAGTTCCTTGGGTAAGGGTT	0.498																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3124-3126)GGT>CGT		ankyrin 2 isoform 1							86.0	69.0	75.0					4																	114251625		2203	4300	6503	SO:0001630	splice_region_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114251625G>C	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.3125+1G>C	4.37:g.114251625G>C						ANK2_uc003ibd.3_Missense_Mutation_p.G1033R|ANK2_uc003ibf.3_Missense_Mutation_p.G1042R|ANK2_uc011cgc.1_Missense_Mutation_p.G251R|ANK2_uc003ibg.3_Missense_Mutation_p.G70R|ANK2_uc003ibc.2_Missense_Mutation_p.G1018R|ANK2_uc011cgb.1_Missense_Mutation_p.G1057R	p.G1042R	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3224	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3124G>C	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.277576|4.277576	0.80580|0.80580	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|.	.|.	.|.	.|.	T|T	0.69124|0.69124	0.3076|0.3076	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;0.998|.	T|T	0.63065|0.63065	-0.6720|-0.6720	9|5	0.72032|.	D|.	0.01|.	.|.	20.1236|20.1236	0.97970|0.97970	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	251;87;1042;1042;1033;1033|.	E9PCH6;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;.;.;.;.;.|.	R|S	1021;988;1033;121;1057;1042;1042;1042;1033;251|87	ENSP00000423799:G1021R;ENSP00000421011:G988R;ENSP00000421067:G1033R;ENSP00000424722:G1057R;ENSP00000378044:G1042R;ENSP00000349588:G1042R;ENSP00000264366:G1042R;ENSP00000426944:G251R|.	ENSP00000264366:G1042R|.	G|W	+|+	1|2	0|0	ANK2|ANK2	114471074|114471074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.864000|9.864000	0.99589|0.99589	2.746000|2.746000	0.94184|0.94184	0.563000|0.563000	0.77884|0.77884	GGT;GGG;GGT;GGG;GGT;GGT;GGT;GGG;GGT;GGG|TGG		PASS	0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	Missense_Mutation	28	15	28	15	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121742365	121742365	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:121742365C>T	ENST00000264808.3	-	4	676	c.436G>A	c.(436-438)Gtt>Att	p.V146I	PRDM5_ENST00000515109.1_Missense_Mutation_p.V146I|PRDM5_ENST00000428209.2_Missense_Mutation_p.V146I	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	146					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.V146I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATTTTCAACTTCCCCTTCT	0.398																																						uc003idn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(436-438)GTT>ATT		PR domain containing 5							240.0	231.0	234.0					4																	121742365		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121742365C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.436G>A	4.37:g.121742365C>T	ENSP00000264808:p.Val146Ile					PRDM5_uc003ido.2_Missense_Mutation_p.V146I|PRDM5_uc010ine.2_Missense_Mutation_p.V146I|PRDM5_uc010inf.2_Missense_Mutation_p.V146I	p.V146I	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			4	686	-			146					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.436G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	8.374	0.835994	0.16891	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.09163	3.05;3.01;3.15	5.0	3.27	0.37495	.	1.034700	0.07617	N	0.926387	T	0.07683	0.0193	N	0.08118	0	0.35465	D	0.796867	B;B;B	0.19817	0.039;0.0;0.039	B;B;B	0.19391	0.025;0.001;0.018	T	0.18335	-1.0340	10	0.49607	T	0.09	-0.411	11.8979	0.52665	0.0:0.8557:0.0:0.1443	.	146;146;146	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	I	146	ENSP00000264808:V146I;ENSP00000422309:V146I;ENSP00000404832:V146I	ENSP00000264808:V146I	V	-	1	0	PRDM5	121961815	.	.	0.002000	0.10522	0.069000	0.16628	.	.	0.770000	0.33336	-0.126000	0.14955	GTT		PASS	0.398	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			148	56	148	56	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072775	134072775	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:134072775G>T	ENST00000264360.5	+	1	2306	c.1480G>T	c.(1480-1482)Gcc>Tcc	p.A494S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A494S(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)		GGATGAGGGCGCCAACGCCCA	0.587																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1480-1482)GCC>TCC		protocadherin 10 isoform 1 precursor							59.0	60.0	59.0					4																	134072775		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072775G>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.1480G>T	4.37:g.134072775G>T	ENSP00000264360:p.Ala494Ser					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A494S	p.A494S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2306	+			494			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1480G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402915	0.42613	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52057	0.68	4.51	3.66	0.41972	Cadherin (4);Cadherin-like (1);	0.000000	0.42964	D	0.000631	T	0.29556	0.0737	N	0.05608	-0.01	0.33152	D	0.545881	P;B	0.40180	0.705;0.074	B;B	0.39217	0.294;0.111	T	0.48091	-0.9065	10	0.54805	T	0.06	.	13.5698	0.61841	0.0:0.1573:0.8427:0.0	.	494;494	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	494	ENSP00000264360:A494S	ENSP00000264360:A494S	A	+	1	0	PCDH10	134292225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.424000	0.66464	1.099000	0.41499	0.655000	0.94253	GCC		PASS	0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		58	15	58	15	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561309	147561309	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr4:147561309G>T	ENST00000281321.3	+	2	827	c.579G>T	c.(577-579)ctG>ctT	p.L193L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	193					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L193L(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCGAGCTGCTGGAGCACCTGA	0.716																																						uc003ikv.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(577-579)CTG>CTT		Brn3b POU domain transcription factor							18.0	21.0	20.0					4																	147561309		2197	4295	6492	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561309G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.579G>T	4.37:g.147561309G>T							p.L193L	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	827	+	all_hematologic(180;0.151)		193					B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.579G>T	CCDS34074.1																																																																																				PASS	0.716	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		3	3	3	3	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	143338	143338	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:143338G>C	ENST00000283426.6	+	2	636	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	196							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E196Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGTCAGTCAGGAGCTGCTGCA	0.657																																						uc003jak.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(586-588)GAG>CAG		pleckstrin homology domain containing, family G							37.0	42.0	40.0					5																	143338		2202	4299	6501	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:143338G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.586G>C	5.37:g.143338G>C	ENSP00000283426:p.Glu196Gln						p.E196Q	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	2	636	+			196						Missense_Mutation	SNP	ENST00000283426.6	37	c.586G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.960754	0.34565	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.22134	1.97;1.97	2.87	1.97	0.26223	.	.	.	.	.	T	0.22666	0.0547	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	P	0.58013	0.831	T	0.09357	-1.0678	9	0.45353	T	0.12	.	6.3786	0.21521	0.154:0.0:0.846:0.0	.	196	Q96PX9	PKH4B_HUMAN	Q	196;110	ENSP00000283426:E196Q;ENSP00000422493:E110Q	ENSP00000283426:E196Q	E	+	1	0	PLEKHG4B	196338	0.999000	0.42202	0.005000	0.12908	0.068000	0.16541	3.320000	0.51991	0.301000	0.22738	0.313000	0.20887	GAG		PASS	0.657	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		35	51	35	51	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	483533	483533	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:483533T>A	ENST00000264938.3	-	6	1006	c.997A>T	c.(997-999)Acc>Tcc	p.T333S	SLC9A3_ENST00000514375.1_Missense_Mutation_p.T333S|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	333					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.T333S(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCACGGTGGTGGCCGACTGC	0.592																																						uc003jbe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)ACC>TCC		solute carrier family 9 (sodium/hydrogen							45.0	32.0	37.0					5																	483533		2194	4295	6489	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:483533T>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.997A>T	5.37:g.483533T>A	ENSP00000264938:p.Thr333Ser					SLC9A3_uc011clx.1_Missense_Mutation_p.T333S	p.T333S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		6	1109	-			333			Extracellular (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.997A>T	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054450	0.55218	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.57436	0.83;0.4	4.26	4.26	0.50523	Cation/H+ exchanger (1);	0.317484	0.32055	N	0.006653	T	0.61726	0.2370	M	0.64997	1.995	0.35171	D	0.771609	B;D	0.61080	0.197;0.989	B;P	0.54431	0.047;0.752	T	0.74914	-0.3502	10	0.66056	D	0.02	.	13.1076	0.59255	0.0:0.0:0.0:1.0	.	333;333	E9PF67;P48764	.;SL9A3_HUMAN	S	333	ENSP00000264938:T333S;ENSP00000422983:T333S	ENSP00000264938:T333S	T	-	1	0	SLC9A3	536533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.832000	0.62759	1.586000	0.49944	0.454000	0.30748	ACC		PASS	0.592	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		8	8	8	8	---	---	---	---
IRX2	153572	broad.mit.edu	37	5	2749065	2749065	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:2749065C>A	ENST00000382611.6	-	3	1005	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C	IRX2_ENST00000302057.5_Missense_Mutation_p.G253C|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	253					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G253C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CACTCCGAGCCCGATTCGCAC	0.692																																						uc003jda.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(757-759)GGC>TGC		iroquois homeobox 2							22.0	23.0	22.0					5																	2749065		2198	4286	6484	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749065C>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.757G>T	5.37:g.2749065C>A	ENSP00000372056:p.Gly253Cys					IRX2_uc003jdb.2_Missense_Mutation_p.G253C	p.G253C	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	999	-			253					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.757G>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436287	0.62955	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.67698	-0.28;-0.28;-0.17	4.87	4.87	0.63330	.	0.486661	0.23043	N	0.052597	T	0.78489	0.4291	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	T	0.80638	-0.1293	10	0.56958	D	0.05	-26.1099	18.0234	0.89261	0.0:1.0:0.0:0.0	.	253	Q9BZI1	IRX2_HUMAN	C	253;253;160	ENSP00000372056:G253C;ENSP00000307006:G253C;ENSP00000426151:G160C	ENSP00000307006:G253C	G	-	1	0	IRX2	2802065	1.000000	0.71417	0.993000	0.49108	0.883000	0.51084	4.748000	0.62148	2.248000	0.74166	0.563000	0.77884	GGC		PASS	0.692	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			41	57	41	57	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33964051	33964051	+	Missense_Mutation	SNP	C	C	A	rs143611047	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:33964051C>A	ENST00000296589.4	-	3	779	c.633G>T	c.(631-633)ttG>ttT	p.L211F	SLC45A2_ENST00000342059.3_Missense_Mutation_p.L152F|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000382102.3_Missense_Mutation_p.L211F	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	211					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L211F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATTCTGTACCCAACAGTCTTC	0.473																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(631-633)TTG>TTT		membrane-associated transporter protein isoform							94.0	90.0	91.0					5																	33964051		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33964051C>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.633G>T	5.37:g.33964051C>A	ENSP00000296589:p.Leu211Phe					SLC45A2_uc003jie.2_Missense_Mutation_p.L211F|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	p.L211F	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			3	725	-			211			Extracellular (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.633G>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775986	0.31411	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;T;D;D	0.92199	-2.99;-1.47;-2.99;-2.99	5.93	0.885	0.19188	Major facilitator superfamily domain, general substrate transporter (1);	0.135123	0.51477	N	0.000090	D	0.86581	0.5967	L	0.54863	1.705	0.80722	D	1	B;B	0.23185	0.003;0.081	B;B	0.29267	0.026;0.1	T	0.73452	-0.3978	10	0.24483	T	0.36	-14.0688	3.8933	0.09128	0.1237:0.5004:0.2399:0.1359	.	211;211	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	F	211;152;211;36	ENSP00000296589:L211F;ENSP00000341014:L152F;ENSP00000371534:L211F;ENSP00000424010:L36F	ENSP00000296589:L211F	L	-	3	2	SLC45A2	33999808	0.997000	0.39634	0.998000	0.56505	0.882000	0.50991	0.465000	0.22004	0.074000	0.16767	0.563000	0.77884	TTG		PASS	0.473	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		37	74	37	74	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065413	35065413	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:35065413C>A	ENST00000382002.5	-	10	2073	c.1647G>T	c.(1645-1647)gtG>gtT	p.V549V	PRLR_ENST00000342362.5_Silent_p.V448V|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Silent_p.V448V|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000513753.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	549					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.V549V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGACCCCGGACACCTTGGCAT	0.498																																						uc003jjm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1645-1647)GTG>GTT		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						99.0	90.0	93.0					5																	35065413		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065413C>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1647G>T	5.37:g.35065413C>A						PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.V448V	p.V549V	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2177	-	all_lung(31;3.83e-05)		549			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1647G>T	CCDS3909.1																																																																																				PASS	0.498	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			46	78	46	78	---	---	---	---
C7	730	broad.mit.edu	37	5	40934464	40934464	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:40934464G>A	ENST00000313164.9	+	4	535	c.176G>A	c.(175-177)gGa>gAa	p.G59E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	59	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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.G59E(1)					Ovarian(839;0.0112)				GGGCAGTATGGAGGCCAGCCT	0.453																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GGA>GAA		complement component 7 precursor							149.0	153.0	152.0					5																	40934464		1954	4140	6094	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40934464G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.176G>A	5.37:g.40934464G>A	ENSP00000322061:p.Gly59Glu					C7_uc011cpn.1_RNA	p.G59E	NM_000587	NP_000578	P10643	CO7_HUMAN			4	290	+		Ovarian(839;0.0112)	59			TSP type-1 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.176G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811391	0.50527	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	T	0.21543	2.0	5.9	4.12	0.48240	.	0.110528	0.64402	N	0.000007	T	0.39091	0.1065	M	0.93328	3.405	0.52099	D	0.999947	B	0.33477	0.413	B	0.38616	0.277	T	0.47560	-0.9108	10	0.62326	D	0.03	-15.768	11.0909	0.48115	0.151:0.0:0.849:0.0	.	59	P10643	CO7_HUMAN	E	59	ENSP00000322061:G59E	ENSP00000322061:G59E	G	+	2	0	C7	40970221	1.000000	0.71417	0.943000	0.38184	0.088000	0.18126	3.613000	0.54152	1.510000	0.48803	0.650000	0.86243	GGA		PASS	0.453	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			49	60	49	60	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45267199	45267199	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:45267199T>C	ENST00000303230.4	-	7	1832	c.1775A>G	c.(1774-1776)gAt>gGt	p.D592G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	592					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.D592G(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCTATTCGATCTAGTCGGTC	0.413																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1774-1776)GAT>GGT		hyperpolarization activated cyclic							140.0	131.0	134.0					5																	45267199		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267199T>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1775A>G	5.37:g.45267199T>C	ENSP00000307342:p.Asp592Gly						p.D592G	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1800	-			592			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1775A>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735354	0.69189	.	.	ENSG00000164588	ENST00000303230	T	0.51325	0.71	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000001	T	0.51312	0.1667	M	0.70595	2.14	0.80722	D	1	B	0.13145	0.007	B	0.16722	0.016	T	0.49418	-0.8942	10	0.56958	D	0.05	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	592	O60741	HCN1_HUMAN	G	592	ENSP00000307342:D592G	ENSP00000307342:D592G	D	-	2	0	HCN1	45302956	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.269000	0.75478	0.533000	0.62120	GAT		PASS	0.413	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		56	118	56	118	---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56177701	56177701	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:56177701A>T	ENST00000399503.3	+	14	2674	c.2674A>T	c.(2674-2676)Aac>Tac	p.N892Y		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	892				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.N892Y(1)|p.N729Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGTTCCCAACAACTATCTGGA	0.458																																						uc003jqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2674-2676)AAC>TAC		mitogen-activated protein kinase kinase kinase							70.0	66.0	68.0					5																	56177701		1939	4141	6080	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177701A>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2674A>T	5.37:g.56177701A>T	ENSP00000382423:p.Asn892Tyr						p.N892Y	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3175	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	892	DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073).					Missense_Mutation	SNP	ENST00000399503.3	37	c.2674A>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	A	1.388	-0.581661	0.03854	.	.	ENSG00000095015	ENST00000399503	T	0.33216	1.42	5.41	1.32	0.21799	.	2.115110	0.02081	N	0.052341	T	0.35682	0.0940	L	0.54323	1.7	0.21256	N	0.999746	B	0.26876	0.162	B	0.30855	0.121	T	0.37798	-0.9690	10	0.54805	T	0.06	.	9.7102	0.40240	0.7177:0.219:0.0634:0.0	.	892	Q13233	M3K1_HUMAN	Y	892	ENSP00000382423:N892Y	ENSP00000382423:N892Y	N	+	1	0	MAP3K1	56213458	0.969000	0.33509	0.016000	0.15963	0.000000	0.00434	2.512000	0.45485	0.082000	0.17018	-1.139000	0.01908	AAC		PASS	0.458	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		34	15	34	15	---	---	---	---
FAM169A	26049	broad.mit.edu	37	5	74135988	74135988	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:74135988C>A	ENST00000389156.4	-	3	233	c.143G>T	c.(142-144)aGc>aTc	p.S48I	FAM169A_ENST00000510496.1_Missense_Mutation_p.S48I|FAM169A_ENST00000380515.3_Missense_Mutation_p.S48I	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	48						membrane (GO:0016020)|nucleus (GO:0005634)		p.S48I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATTTGACAGGCTAATAGGAAT	0.323																																						uc003kdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)AGC>ATC		hypothetical protein LOC26049							62.0	58.0	59.0					5																	74135988		1795	4069	5864	SO:0001583	missense	26049							g.chr5:74135988C>A		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.143G>T	5.37:g.74135988C>A	ENSP00000373808:p.Ser48Ile					FAM169A_uc010izm.2_Missense_Mutation_p.S48I|FAM169A_uc003kdl.2_5'UTR	p.S48I	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			3	186	-			48					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.143G>T	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.934511	0.73442	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.84	5.84	0.93424	.	0.058436	0.64402	D	0.000003	T	0.58864	0.2152	L	0.59436	1.845	0.51482	D	0.999923	D;D	0.60575	0.988;0.988	P;P	0.59948	0.866;0.825	T	0.59332	-0.7474	10	0.72032	D	0.01	-9.8244	17.0814	0.86600	0.0:0.8735:0.1265:0.0	.	48;48	D6RB01;Q9Y6X4	.;F169A_HUMAN	I	48	ENSP00000373808:S48I;ENSP00000424578:S48I;ENSP00000369886:S48I;ENSP00000423631:S48I;ENSP00000423883:S48I;ENSP00000421451:S48I	ENSP00000369886:S48I	S	-	2	0	FAM169A	74171744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.519000	0.45546	2.764000	0.94973	0.650000	0.86243	AGC		PASS	0.323	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			39	13	39	13	---	---	---	---
F2RL1	2150	broad.mit.edu	37	5	76129066	76129066	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:76129066G>T	ENST00000296677.4	+	2	840	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	212					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.V212L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTTGTATGTCGTGAAGCAGAC	0.502																																						uc003keo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(634-636)GTG>TTG		coagulation factor II (thrombin) receptor-like 1							130.0	114.0	119.0					5																	76129066		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129066G>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.634G>T	5.37:g.76129066G>T	ENSP00000296677:p.Val212Leu						p.V212L	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	809	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	212			Extracellular (Potential).		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.634G>T	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	4.327	0.060020	0.08339	.	.	ENSG00000164251	ENST00000296677	T	0.69806	-0.43	5.74	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.427017	0.27986	N	0.017046	T	0.45597	0.1350	N	0.20845	0.615	0.24630	N	0.993626	B	0.30511	0.282	B	0.30179	0.112	T	0.25257	-1.0137	9	.	.	.	-6.3737	7.1911	0.25826	0.3846:0.0:0.6154:0.0	.	212	P55085	PAR2_HUMAN	L	212	ENSP00000296677:V212L	.	V	+	1	0	F2RL1	76164822	0.998000	0.40836	0.416000	0.26546	0.970000	0.65996	2.311000	0.43717	0.652000	0.30806	0.655000	0.94253	GTG		PASS	0.502	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			52	17	52	17	---	---	---	---
ACOT12	134526	broad.mit.edu	37	5	80626672	80626672	+	Silent	SNP	G	G	A	rs561429664		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:80626672G>A	ENST00000307624.3	-	14	1507	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	493	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.A493A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGAGAAATCCGGCACATATGA	0.423																																						uc003khl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1477-1479)GCC>GCT		acyl-CoA thioesterase 12							91.0	85.0	87.0					5																	80626672		2203	4300	6503	SO:0001819	synonymous_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80626672G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1479C>T	5.37:g.80626672G>A						RNU5E_uc011cto.1_Intron	p.A493A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	14	1534	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	493			START.		B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	c.1479C>T	CCDS4055.1																																																																																				PASS	0.423	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		3	79	3	79	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82817619	82817619	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:82817619T>A	ENST00000265077.3	+	7	4059	c.3494T>A	c.(3493-3495)aTg>aAg	p.M1165K	VCAN_ENST00000512590.2_Missense_Mutation_p.M1117K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.M1165K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1165	GAG-alpha (glucosaminoglycan attachment domain).				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.M1165K(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)	ACCCAGCTTATGGAAGAAACC	0.378																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3493-3495)ATG>AAG		versican isoform 1 precursor							100.0	101.0	101.0					5																	82817619		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.chr5:82817619T>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.3494T>A	5.37:g.82817619T>A	ENSP00000265077:p.Met1165Lys					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.M1165K|VCAN_uc003kik.3_Intron	p.M1165K	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)	7	3850	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1165			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3494T>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.847332	0.00067	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.84873	-1.8;-1.88;-1.91	5.48	-4.71	0.03279	.	1.629710	0.02803	N	0.123477	T	0.71762	0.3378	L	0.36672	1.1	0.09310	N	1	B;B	0.29716	0.011;0.255	B;B	0.19148	0.023;0.024	T	0.59080	-0.7521	10	0.09338	T	0.73	.	5.9615	0.19303	0.2413:0.4583:0.0:0.3004	.	1165;1165	P13611-3;P13611	.;CSPG2_HUMAN	K	1165;1165;1117	ENSP00000265077:M1165K;ENSP00000342768:M1165K;ENSP00000425959:M1117K	ENSP00000265077:M1165K	M	+	2	0	VCAN	82853375	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.423000	0.07034	-0.432000	0.07297	-0.326000	0.08463	ATG		PASS	0.378	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		94	45	94	45	---	---	---	---
LVRN	206338	broad.mit.edu	37	5	115336855	115336855	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:115336855C>T	ENST00000357872.4	+	10	1863	c.1739C>T	c.(1738-1740)aCt>aTt	p.T580I	AQPEP_ENST00000395528.2_Missense_Mutation_p.T97I	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		580						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T580I(1)									CCAGTGATCACTTTAAATGTG	0.393																																						uc003kro.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1738-1740)ACT>ATT		laeverin							121.0	119.0	120.0					5																	115336855		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115336855C>T																												ENST00000357872.4:c.1739C>T	5.37:g.115336855C>T	ENSP00000350541:p.Thr580Ile					AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.T580I	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			10	1903	+			580			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1739C>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640083	0.87760	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.05717	3.4;3.4	5.95	5.95	0.96441	.	0.255363	0.32473	N	0.006051	T	0.35480	0.0933	M	0.92026	3.265	0.45403	D	0.998389	D	0.89917	1.0	D	0.76071	0.987	T	0.29181	-1.0020	10	0.87932	D	0	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	580	Q6Q4G3	AMPQ_HUMAN	I	97;580;569	ENSP00000378899:T97I;ENSP00000350541:T580I	ENSP00000350541:T580I	T	+	2	0	AC010282.1	115364754	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.733000	0.68571	2.826000	0.97356	0.563000	0.77884	ACT		PASS	0.393	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			98	41	98	41	---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131953812	131953812	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:131953812A>G	ENST00000265335.6	+	21	3602	c.3215A>G	c.(3214-3216)aAt>aGt	p.N1072S	RAD50_ENST00000378823.3_Missense_Mutation_p.N933S			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1072					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.N933S(1)|p.N1072S(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAAATCATAATTTGGCATTA	0.313								Homologous recombination																														uc003kxi.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(3214-3216)AAT>AGT	Homologous_recombination	RAD50 homolog isoform 1							136.0	158.0	151.0					5																	131953812		2203	4299	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131953812A>G	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3215A>G	5.37:g.131953812A>G	ENSP00000265335:p.Asn1072Ser					RAD50_uc003kxh.2_Missense_Mutation_p.N933S	p.N1072S	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3602	+		all_cancers(142;0.0368)|Breast(839;0.198)	1072			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.3215A>G	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	0.765	-0.767916	0.02974	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.04317	3.65;3.88	5.4	2.67	0.31697	.	0.351787	0.38837	N	0.001552	T	0.01558	0.0050	N	0.01352	-0.895	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.48234	-0.9053	10	0.07175	T	0.84	-0.7153	9.8502	0.41053	0.3:0.0:0.7:0.0	.	1072	Q92878	RAD50_HUMAN	S	933;1072	ENSP00000368100:N933S;ENSP00000265335:N1072S	ENSP00000265335:N1072S	N	+	2	0	RAD50	131981711	0.013000	0.17824	0.829000	0.32907	0.833000	0.47200	0.995000	0.29706	0.359000	0.24239	-0.766000	0.03442	AAT		PASS	0.313	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		152	54	152	54	---	---	---	---
MYOT	9499	broad.mit.edu	37	5	137206683	137206683	+	Missense_Mutation	SNP	G	G	T	rs114194130	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:137206683G>T	ENST00000239926.4	+	2	717	c.343G>T	c.(343-345)Gct>Tct	p.A115S	MYOT_ENST00000421631.2_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_5'UTR	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	115	Necessary for interaction with ACTN1.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.A115S(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATCCCTTCCGCTATGGATTC	0.458																																						uc011cye.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(343-345)GCT>TCT		myotilin isoform b							36.0	34.0	35.0					5																	137206683		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137206683G>T	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.343G>T	5.37:g.137206683G>T	ENSP00000239926:p.Ala115Ser					MYOT_uc003lbv.2_Missense_Mutation_p.A115S|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_5'UTR	p.A115S	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	360	+			115			Necessary for interaction with ACTN1.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.343G>T	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185164	0.01620	.	.	ENSG00000120729	ENST00000239926	T	0.69561	-0.41	5.89	1.03	0.20045	.	0.466546	0.19799	N	0.105794	T	0.35941	0.0949	N	0.14661	0.345	0.25913	N	0.983209	B	0.02656	0.0	B	0.01281	0.0	T	0.10064	-1.0646	10	0.07644	T	0.81	.	1.3746	0.02218	0.3963:0.2789:0.2031:0.1217	.	115	Q9UBF9	MYOTI_HUMAN	S	115	ENSP00000239926:A115S	ENSP00000239926:A115S	A	+	1	0	MYOT	137234582	0.003000	0.15002	0.923000	0.36655	0.521000	0.34408	-0.020000	0.12525	0.491000	0.27793	-1.368000	0.01194	GCT		PASS	0.458	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		30	5	30	5	---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137680742	137680742	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr5:137680742C>T	ENST00000239906.5	+	4	793	c.365C>T	c.(364-366)tCa>tTa	p.S122L	FAM53C_ENST00000513056.1_Intron|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.S122L|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	122								p.S122L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCTCACTCTCAGTGCCCGTG	0.667																																						uc003lcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)TCA>TTA		hypothetical protein LOC51307							69.0	67.0	67.0					5																	137680742		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137680742C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.365C>T	5.37:g.137680742C>T	ENSP00000239906:p.Ser122Leu					FAM53C_uc003lcw.2_Missense_Mutation_p.S122L|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	p.S122L	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	835	+			122					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.365C>T	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773041	0.69992	.	.	ENSG00000120709	ENST00000434981;ENST00000239906;ENST00000511276	T;T;T	0.70164	-0.46;-0.46;-0.46	5.72	5.72	0.89469	.	0.068085	0.64402	D	0.000008	T	0.81880	0.4916	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.83303	-0.0027	10	0.87932	D	0	-4.7504	18.6546	0.91448	0.0:1.0:0.0:0.0	.	122	Q9NYF3	FA53C_HUMAN	L	122;122;112	ENSP00000403705:S122L;ENSP00000239906:S122L;ENSP00000427610:S112L	ENSP00000239906:S122L	S	+	2	0	FAM53C	137708641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.377000	0.79668	2.705000	0.92388	0.655000	0.94253	TCA		PASS	0.667	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		43	12	43	12	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24576630	24576630	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:24576630C>G	ENST00000378214.3	-	10	2224	c.1700G>C	c.(1699-1701)gGt>gCt	p.G567A	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G567A|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G567A|KIAA0319_ENST00000535378.1_Missense_Mutation_p.G558A|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G522A	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	567	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.		G -> S (in dbSNP:rs2744559).		negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G567A(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTCCCAGGACCCAGGGACCA	0.493																																						uc011djo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1699-1701)GGT>GCT		KIAA0319 precursor							308.0	282.0	291.0					6																	24576630		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24576630C>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1700G>C	6.37:g.24576630C>G	ENSP00000367459:p.Gly567Ala					KIAA0319_uc011djp.1_Missense_Mutation_p.G522A|KIAA0319_uc003neh.1_Missense_Mutation_p.G567A|KIAA0319_uc011djq.1_Missense_Mutation_p.G558A|KIAA0319_uc011djr.1_Missense_Mutation_p.G567A|KIAA0319_uc010jpt.1_5'UTR	p.G567A	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			10	1937	-			567			PKD 3.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1700G>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872854	0.33069	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	3.9	-1.55	0.08558	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (3);	0.503599	0.19498	N	0.112801	T	0.12008	0.0292	M	0.79805	2.47	0.30763	N	0.743847	B;B;B	0.32040	0.353;0.3;0.349	B;B;B	0.37550	0.214;0.164;0.253	T	0.10451	-1.0629	10	0.40728	T	0.16	-2.6235	2.6197	0.04913	0.1232:0.5261:0.1331:0.2176	.	567;558;567	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	A	567;558;522;567;567	ENSP00000439700:G567A;ENSP00000442403:G558A;ENSP00000401086:G522A;ENSP00000367459:G567A;ENSP00000437656:G567A	ENSP00000367459:G567A	G	-	2	0	KIAA0319	24684609	1.000000	0.71417	0.010000	0.14722	0.867000	0.49689	1.709000	0.37909	-0.517000	0.06461	-0.211000	0.12701	GGT		PASS	0.493	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		70	202	70	202	---	---	---	---
BTN2A1	11120	broad.mit.edu	37	6	26468571	26468571	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:26468571G>A	ENST00000312541.5	+	8	1626	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	BTN2A1_ENST00000541522.1_Missense_Mutation_p.D399N|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	460	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.D460N(1)|p.D446N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGAAGCTGGAGATGTCTCCTT	0.552																																						uc003nib.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1378-1380)GAT>AAT		butyrophilin, subfamily 2, member A1 isoform 1							159.0	132.0	141.0					6																	26468571		2203	4297	6500	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26468571G>A	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1378G>A	6.37:g.26468571G>A	ENSP00000312158:p.Asp460Asn					BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.D308N|BTN2A1_uc011dko.1_Missense_Mutation_p.D399N|BTN2A1_uc010jqk.1_Missense_Mutation_p.D220N	p.D460N	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			8	1590	+			460			Cytoplasmic (Potential).|B30.2/SPRY.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.1378G>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738739	0.30774	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000265424	T;T	0.68624	-0.34;-0.34	2.72	2.72	0.32119	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.119939	0.37761	N	0.001942	T	0.64583	0.2611	L	0.55213	1.73	0.09310	N	1	P;D	0.89917	0.531;1.0	B;D	0.87578	0.444;0.998	T	0.52019	-0.8631	10	0.54805	T	0.06	.	7.7181	0.28717	0.0:0.2623:0.7377:0.0	.	399;460	B4DLP9;Q7KYR7	.;BT2A1_HUMAN	N	460;399;446	ENSP00000312158:D460N;ENSP00000443909:D399N	ENSP00000265424:D446N	D	+	1	0	BTN2A1	26576550	0.000000	0.05858	0.700000	0.30305	0.859000	0.49053	0.183000	0.16919	1.834000	0.53371	0.491000	0.48974	GAT		PASS	0.552	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		51	83	51	83	---	---	---	---
CFB	629	broad.mit.edu	37	6	31914294	31914294	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:31914294C>G	ENST00000425368.2	+	2	722	c.209C>G	c.(208-210)cCt>cGt	p.P70R	CFB_ENST00000456570.1_Missense_Mutation_p.P572R|CFB_ENST00000556679.1_Missense_Mutation_p.P572R|CFB_ENST00000477310.1_Intron	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	70	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.P70R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACCCGTACCCTGTGCAGACA	0.572																																						uc003nyj.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(208-210)CCT>CGT		complement factor B preproprotein							81.0	65.0	71.0					6																	31914294		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31914294C>G	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.209C>G	6.37:g.31914294C>G	ENSP00000416561:p.Pro70Arg					CFB_uc011dor.1_Missense_Mutation_p.P572R|CFB_uc011dos.1_Missense_Mutation_p.P70R|CFB_uc003nyi.2_Missense_Mutation_p.P70R	p.P70R	NM_001710	NP_001701	P00751	CFAB_HUMAN			2	487	+			70			Sushi 1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.209C>G	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298427	0.81025	.	.	ENSG00000243649;ENSG00000243649;ENSG00000243649;ENSG00000244255	ENST00000556679;ENST00000475617;ENST00000425368;ENST00000456570	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.17	5.17	0.71159	Complement control module (1);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000139	T	0.76307	0.3969	M	0.83774	2.66	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80320	-0.1432	10	0.87932	D	0	-1.6214	14.1701	0.65503	0.0:1.0:0.0:0.0	.	70;572;70;70	B4E1Z1;B4E1Z4;P00751;P00751-2	.;.;CFAB_HUMAN;.	R	572;70;70;572	ENSP00000451848:P572R;ENSP00000420090:P70R;ENSP00000416561:P70R;ENSP00000410815:P572R	ENSP00000416561:P70R	P	+	2	0	CFB;XXbac-BPG116M5.17	32022273	0.995000	0.38212	0.945000	0.38365	0.944000	0.59088	4.271000	0.58902	2.437000	0.82529	0.313000	0.20887	CCT		PASS	0.572	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		41	51	41	51	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32039771	32039771	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:32039771C>G	ENST00000375244.3	-	13	5187	c.4986G>C	c.(4984-4986)aaG>aaC	p.K1662N	TNXB_ENST00000375247.2_Missense_Mutation_p.K1662N			P22105	TENX_HUMAN	tenascin XB	1744	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.K1749N(1)|p.K1662N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCACCCGTCTTTGCCTCCA	0.582																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(4984-4986)AAG>AAC		tenascin XB isoform 1 precursor							31.0	33.0	32.0					6																	32039771		2003	4168	6171	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32039771C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4986G>C	6.37:g.32039771C>G	ENSP00000364393:p.Lys1662Asn						p.K1662N	NM_019105	NP_061978	P22105	TENX_HUMAN			13	5188	-			1744					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4986G>C		.	.	.	.	.	.	.	.	.	.	C	13.85	2.360475	0.41801	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56275	0.64;0.47	5.55	2.81	0.32909	.	0.642191	0.13811	N	0.361132	T	0.49677	0.1571	M	0.82056	2.57	0.20489	N	0.999896	D	0.59357	0.985	P	0.61397	0.888	T	0.38735	-0.9647	10	0.25106	T	0.35	.	6.2298	0.20728	0.0:0.5622:0.2876:0.1502	.	1662	P22105-3	.	N	1662	ENSP00000364393:K1662N;ENSP00000364396:K1662N	ENSP00000364393:K1662N	K	-	3	2	TNXB	32147749	0.477000	0.25909	0.796000	0.32109	0.818000	0.46254	0.495000	0.22483	0.307000	0.22880	0.591000	0.81541	AAG		PASS	0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	21	10	21	---	---	---	---
C6orf10	10665	broad.mit.edu	37	6	32261409	32261409	+	Silent	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:32261409T>C	ENST00000447241.2	-	23	1213	c.1041A>G	c.(1039-1041)aaA>aaG	p.K347K	C6orf10_ENST00000375015.4_Silent_p.K346K|C6orf10_ENST00000375007.4_Silent_p.K345K|C6orf10_ENST00000533191.1_Silent_p.K345K|C6orf10_ENST00000527965.1_Silent_p.K331K|C6orf10_ENST00000442822.2_Silent_p.K338K	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	347						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.K347K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTTCTTGTCCTTTTGGGACAC	0.478																																						uc011dpy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1039-1041)AAA>AAG		chromosome 6 open reading frame 10							181.0	175.0	177.0					6																	32261409		1511	2709	4220	SO:0001819	synonymous_variant	10665					integral to membrane		g.chr6:32261409T>C	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1041A>G	6.37:g.32261409T>C						C6orf10_uc011dpx.1_Silent_p.K129K	p.K347K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1214	-			347					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	c.1041A>G	CCDS34422.1																																																																																				PASS	0.478	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		3	178	3	178	---	---	---	---
HLA-DQA2	3118	broad.mit.edu	37	6	32713677	32713677	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:32713677G>C	ENST00000374940.3	+	3	543	c.441G>C	c.(439-441)tgG>tgC	p.W147C		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	147	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)	p.W147C(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	ACATCACCTGGCTGAGCAATG	0.502																																						uc003obx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)TGG>TGC		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						271.0	241.0	252.0					6																	32713677		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713677G>C		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.441G>C	6.37:g.32713677G>C	ENSP00000364076:p.Trp147Cys						p.W147C	NM_020056	NP_064440	P01906	DQA2_HUMAN			3	499	+			147			Alpha-2.|Extracellular (Potential).|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.441G>C	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.253504	0.22965	.	.	ENSG00000237541	ENST00000374940	T	0.04551	3.6	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.30103	0.0754	H	0.99675	4.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57100	-0.7869	10	0.87932	D	0	.	11.8979	0.52665	0.0:0.0:1.0:0.0	.	147	P01906	DQA2_HUMAN	C	147	ENSP00000364076:W147C	ENSP00000364076:W147C	W	+	3	0	HLA-DQA2	32821655	1.000000	0.71417	0.459000	0.27081	0.035000	0.12851	4.565000	0.60836	1.700000	0.51204	0.174000	0.16983	TGG		PASS	0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		75	185	75	185	---	---	---	---
TAP1	6890	broad.mit.edu	37	6	32820923	32820923	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:32820923C>G	ENST00000354258.4	-	1	832	c.671G>C	c.(670-672)gGc>gCc	p.G224A	PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	224					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.G224A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCCCTGACCGCCGGGCACCCA	0.672																																						uc003ocg.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(670-672)GGC>GCC		transporter 1, ATP-binding cassette, sub-family							19.0	21.0	20.0					6																	32820923		1507	2707	4214	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32820923C>G		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.671G>C	6.37:g.32820923C>G	ENSP00000346206:p.Gly224Ala					TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	p.G224A	NM_000593	NP_000584	Q03518	TAP1_HUMAN			1	826	-			224			Cytoplasmic (Potential).		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.671G>C	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	9.162	1.018956	0.19355	.	.	ENSG00000168394	ENST00000354258	D	0.86230	-2.09	4.04	1.13	0.20643	.	0.929030	0.08786	N	0.893892	T	0.49150	0.1540	N	0.14661	0.345	0.19300	N	0.999974	B	0.30406	0.278	B	0.24974	0.057	T	0.41215	-0.9521	10	0.15066	T	0.55	0.2186	2.8337	0.05507	0.1848:0.5324:0.1793:0.1035	.	224	Q03518	TAP1_HUMAN	A	224	ENSP00000346206:G224A	ENSP00000346206:G224A	G	-	2	0	TAP1	32928901	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.358000	0.20216	0.086000	0.17137	0.637000	0.83480	GGC		PASS	0.672	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		11	18	11	18	---	---	---	---
ZBTB9	221504	broad.mit.edu	37	6	33424010	33424010	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:33424010C>T	ENST00000395064.2	+	2	1401	c.1133C>T	c.(1132-1134)cCt>cTt	p.P378L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	378	Gly-rich.				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.P378L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGGACACCCCCTGCAGATGGA	0.592																																						uc003oeq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1132-1134)CCT>CTT		zinc finger and BTB domain containing 9							43.0	35.0	37.0					6																	33424010		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33424010C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1133C>T	6.37:g.33424010C>T	ENSP00000378503:p.Pro378Leu						p.P378L	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	1401	+			378			Gly-rich.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.1133C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189921	0.57909	.	.	ENSG00000213588	ENST00000395064	T	0.08282	3.11	4.44	4.44	0.53790	.	0.152259	0.26571	U	0.023624	T	0.03608	0.0103	L	0.54965	1.715	0.41127	D	0.985856	B	0.29862	0.259	B	0.28553	0.091	T	0.13072	-1.0523	10	0.08837	T	0.75	.	14.6364	0.68692	0.0:1.0:0.0:0.0	.	378	Q96C00	ZBTB9_HUMAN	L	378	ENSP00000378503:P378L	ENSP00000378503:P378L	P	+	2	0	ZBTB9	33531988	0.003000	0.15002	1.000000	0.80357	0.995000	0.86356	1.042000	0.30303	2.302000	0.77476	0.655000	0.94253	CCT		PASS	0.592	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		21	45	21	45	---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34004042	34004042	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:34004042C>A	ENST00000538487.2	-	9	2288	c.1845G>T	c.(1843-1845)acG>acT	p.T615T	GRM4_ENST00000609222.1_Silent_p.T482T|GRM4_ENST00000455714.2_Silent_p.T475T|GRM4_ENST00000374177.3_Silent_p.T499T|GRM4_ENST00000544773.2_Silent_p.T446T|GRM4_ENST00000535756.1_Silent_p.T482T|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.T615T	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	615					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.T615T(2)|p.T499T(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						TGACGATGGGCGTGTCGTTGT	0.637																																						uc003oir.3																			3	Substitution - coding silent(3)		lung(3)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1843-1845)ACG>ACT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						83.0	71.0	75.0					6																	34004042		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.chr6:34004042C>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.1845G>T	6.37:g.34004042C>A						GRM4_uc011dsn.1_Silent_p.T568T|GRM4_uc010jvh.2_Silent_p.T615T|GRM4_uc010jvi.2_Silent_p.T307T|GRM4_uc003oio.2_Silent_p.T307T|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.T475T|GRM4_uc003oiq.2_Silent_p.T482T|GRM4_uc011dsm.1_Silent_p.T446T	p.T615T	NM_000841	NP_000832	Q14833	GRM4_HUMAN			8	2015	-			615			Cytoplasmic (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1845G>T	CCDS4787.1																																																																																				PASS	0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			13	34	13	34	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34949507	34949507	+	Missense_Mutation	SNP	A	A	G	rs371965061		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:34949507A>G	ENST00000360359.3	+	4	614	c.476A>G	c.(475-477)tAt>tGt	p.Y159C	ANKS1A_ENST00000535627.1_Missense_Mutation_p.Y159C	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	159					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.Y159C(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGCGCAGTATGGCCACACA	0.537																																						uc003ojx.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(475-477)TAT>TGT		ankyrin repeat and sterile alpha motif domain		A	CYS/TYR	0,4406		0,0,2203	103.0	88.0	93.0		476	5.9	1.0	6		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANKS1A	NM_015245.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	159/1135	34949507	1,13005	2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34949507A>G	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.476A>G	6.37:g.34949507A>G	ENSP00000353518:p.Tyr159Cys					ANKS1A_uc011dss.1_Missense_Mutation_p.Y159C|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvr.1_RNA	p.Y159C	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			4	618	+			159			ANK 3.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.476A>G	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153808	0.78114	0.0	1.16E-4	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.53857	0.6;0.6	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.44902	D	0.000416	T	0.58032	0.2094	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.964	T	0.61681	-0.7013	10	0.56958	D	0.05	-17.6048	16.4323	0.83853	1.0:0.0:0.0:0.0	.	159;159	B4DQW8;Q92625	.;ANS1A_HUMAN	C	159	ENSP00000353518:Y159C;ENSP00000438752:Y159C	ENSP00000353518:Y159C	Y	+	2	0	ANKS1A	35057485	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.296000	0.96104	2.281000	0.76405	0.528000	0.53228	TAT		PASS	0.537	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		23	47	23	47	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42196313	42196313	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:42196313C>T	ENST00000372922.4	-	18	3935	c.3373G>A	c.(3373-3375)Gca>Aca	p.A1125T	TRERF1_ENST00000354325.2_Missense_Mutation_p.A1042T|TRERF1_ENST00000541110.1_Missense_Mutation_p.A1145T|TRERF1_ENST00000372917.4_Missense_Mutation_p.A1054T|TRERF1_ENST00000340840.2_Missense_Mutation_p.A1054T	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1125	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A1125T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATCTCAGCTGCAAAAGCCGCC	0.552																																						uc003osd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(3373-3375)GCA>ACA		transcriptional regulating factor 1							207.0	232.0	224.0					6																	42196313		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196313C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3373G>A	6.37:g.42196313C>T	ENSP00000362013:p.Ala1125Thr					TRERF1_uc011duq.1_Missense_Mutation_p.A1042T|TRERF1_uc003osb.2_Missense_Mutation_p.A893T|TRERF1_uc003osc.2_Missense_Mutation_p.A881T|TRERF1_uc003ose.2_Missense_Mutation_p.A1145T	p.A1125T	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3936	-	Colorectal(47;0.196)		1125			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3373G>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401827	0.83120	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.14766	2.52;2.48;2.62;2.48;2.49	5.89	5.0	0.66597	.	0.103153	0.42682	D	0.000668	T	0.13286	0.0322	L	0.27053	0.805	0.51482	D	0.999922	P;P;P;P;D	0.63046	0.668;0.539;0.539;0.668;0.992	B;B;B;B;P	0.59487	0.314;0.251;0.251;0.314;0.858	T	0.03651	-1.1016	10	0.56958	D	0.05	-13.7311	15.8685	0.79084	0.1463:0.8537:0.0:0.0	.	1042;1145;1125;881;893	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	T	1145;1054;1125;1054;1042	ENSP00000439689:A1145T;ENSP00000362008:A1054T;ENSP00000362013:A1125T;ENSP00000339438:A1054T;ENSP00000346285:A1042T	ENSP00000339438:A1054T	A	-	1	0	TRERF1	42304291	0.997000	0.39634	0.269000	0.24586	0.908000	0.53690	4.070000	0.57548	1.432000	0.47375	0.563000	0.77884	GCA		PASS	0.552	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		154	300	154	300	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47649007	47649007	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:47649007A>G	ENST00000296862.1	+	6	712	c.712A>G	c.(712-714)Agc>Ggc	p.S238G	GPR111_ENST00000398742.2_Missense_Mutation_p.S170G|GPR111_ENST00000507065.1_Missense_Mutation_p.S170G			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	238					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S238G(1)|p.S170G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGAGTTACAGCACCATAGC	0.443																																						uc010jzj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(712-714)AGC>GGC		G-protein coupled receptor 111							65.0	63.0	64.0					6																	47649007		2030	4189	6219	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649007A>G	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.712A>G	6.37:g.47649007A>G	ENSP00000296862:p.Ser238Gly					GPR111_uc010jzk.1_Missense_Mutation_p.S170G|GPR111_uc003oyy.2_RNA	p.S238G	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	713	+			238			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.712A>G		.	.	.	.	.	.	.	.	.	.	A	14.08	2.428927	0.43122	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.24723	1.84;1.84;1.84	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	T	0.18593	0.0446	M	0.67953	2.075	0.28506	N	0.913799	P;B	0.35208	0.49;0.357	B;B	0.38500	0.275;0.142	T	0.07028	-1.0794	10	0.54805	T	0.06	.	14.021	0.64555	1.0:0.0:0.0:0.0	.	170;238	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	G	170;238;170	ENSP00000422934:S170G;ENSP00000296862:S238G;ENSP00000381727:S170G	ENSP00000296862:S238G	S	+	1	0	GPR111	47756966	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.840000	0.48215	1.926000	0.55796	0.449000	0.29647	AGC		PASS	0.443	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		26	73	26	73	---	---	---	---
MCM3	4172	broad.mit.edu	37	6	52143602	52143602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:52143602G>A	ENST00000229854.7	-	6	893	c.817C>T	c.(817-819)Cag>Tag	p.Q273*	MCM3_ENST00000596288.1_Nonsense_Mutation_p.Q318*|MCM3_ENST00000419835.2_Nonsense_Mutation_p.Q227*|MCM3_ENST00000476448.1_5'UTR			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	273					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.Q273*(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AAAGAGGGCTGAGCATCCTTG	0.438																																						uc003pan.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(817-819)CAG>TAG		minichromosome maintenance complex component 3							95.0	92.0	93.0					6																	52143602		2203	4300	6503	SO:0001587	stop_gained	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52143602G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.817C>T	6.37:g.52143602G>A	ENSP00000229854:p.Gln273*					MCM3_uc011dwu.1_Nonsense_Mutation_p.Q227*	p.Q273*	NM_002388	NP_002379	P25205	MCM3_HUMAN			6	927	-	Lung NSC(77;0.0931)		273					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Nonsense_Mutation	SNP	ENST00000229854.7	37	c.817C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.943169	0.97128	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	.	.	.	5.55	5.55	0.83447	.	0.372333	0.30519	N	0.009449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-25.489	13.1537	0.59505	0.0:0.0:0.7372:0.2628	.	.	.	.	X	273;227	.	ENSP00000229854:Q273X	Q	-	1	0	MCM3	52251561	0.933000	0.31639	0.994000	0.49952	0.953000	0.61014	1.655000	0.37345	2.885000	0.99019	0.655000	0.94253	CAG		PASS	0.438	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			29	47	29	47	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55216071	55216071	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:55216071T>A	ENST00000340465.2	+	5	477	c.391T>A	c.(391-393)Tgt>Agt	p.C131S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	131					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C131S(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GATGTGGTCCTGTTTGGAAGT	0.443																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(391-393)TGT>AGT		GDNF family receptor alpha like precursor							248.0	215.0	226.0					6																	55216071		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216071T>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.391T>A	6.37:g.55216071T>A	ENSP00000343636:p.Cys131Ser						p.C131S	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	477	+	Lung NSC(77;0.0875)|Renal(3;0.122)		131			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.391T>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303788	0.81136	.	.	ENSG00000187871	ENST00000340465	D	0.94330	-3.4	5.59	5.59	0.84812	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	D	0.93635	0.7967	L	0.34521	1.04	0.52099	D	0.999944	D	0.89917	1.0	D	0.97110	1.0	D	0.95132	0.8256	10	0.87932	D	0	-17.237	16.0584	0.80820	0.0:0.0:0.0:1.0	.	131	Q6UXV0	GFRAL_HUMAN	S	131	ENSP00000343636:C131S	ENSP00000343636:C131S	C	+	1	0	GFRAL	55324030	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.776000	0.68924	2.231000	0.72958	0.533000	0.62120	TGT		PASS	0.443	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		117	101	117	101	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84913806	84913806	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:84913806T>C	ENST00000403245.3	-	7	694	c.580A>G	c.(580-582)Agt>Ggt	p.S194G	KIAA1009_ENST00000257766.4_Missense_Mutation_p.S118G	NM_014895.2	NP_055710.2												p.S194G(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AAATCATCACTGTAATTTTCT	0.338																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(580-582)AGT>GGT		KIAA1009 protein							82.0	83.0	83.0					6																	84913806		2203	4298	6501	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84913806T>C																												ENST00000403245.3:c.580A>G	6.37:g.84913806T>C	ENSP00000385215:p.Ser194Gly					KIAA1009_uc003pkj.3_Missense_Mutation_p.S118G|KIAA1009_uc003pkk.2_Missense_Mutation_p.S194G	p.S194G	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	7	677	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	194						Missense_Mutation	SNP	ENST00000403245.3	37	c.580A>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851150	0.71719	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.18174	2.23;2.23	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.78637	2.42	0.36606	D	0.874922	D;D	0.71674	0.998;0.998	D;D	0.80764	0.987;0.994	T	0.33701	-0.9858	10	0.87932	D	0	-16.4167	14.0447	0.64698	0.0:0.0:0.0:1.0	.	194;194	Q5TB80;C9JFM9	QN1_HUMAN;.	G	118;194	ENSP00000257766:S118G;ENSP00000385215:S194G	ENSP00000257766:S118G	S	-	1	0	KIAA1009	84970525	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.312000	0.59154	2.129000	0.65627	0.460000	0.39030	AGT		PASS	0.338	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			28	86	28	86	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90411637	90411637	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:90411637C>T	ENST00000369393.3	-	54	8407	c.8292G>A	c.(8290-8292)atG>atA	p.M2764I	MDN1_ENST00000428876.1_Missense_Mutation_p.M2764I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2764					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.M2764I(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTTCATAATTCATCAGAAGTC	0.413																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(8290-8292)ATG>ATA		MDN1, midasin homolog							47.0	51.0	50.0					6																	90411637		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90411637C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8292G>A	6.37:g.90411637C>T	ENSP00000358400:p.Met2764Ile						p.M2764I	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	54	8408	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2764					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.8292G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601054	0.28534	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02763	4.17;4.17	5.8	4.85	0.62838	.	0.730351	0.14208	N	0.334238	T	0.00784	0.0026	N	0.12182	0.205	0.24581	N	0.993871	B	0.02656	0.0	B	0.01281	0.0	T	0.49143	-0.8970	10	0.18710	T	0.47	.	13.5799	0.61896	0.2655:0.7345:0.0:0.0	.	2764	Q9NU22	MDN1_HUMAN	I	2764	ENSP00000358400:M2764I;ENSP00000413970:M2764I	ENSP00000358400:M2764I	M	-	3	0	MDN1	90468358	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.996000	0.49449	2.736000	0.93811	0.591000	0.81541	ATG		PASS	0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			27	50	27	50	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101054691	101054691	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:101054691C>A	ENST00000369162.2	-	32	5313	c.4969G>T	c.(4969-4971)Gct>Tct	p.A1657S		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1657	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.A1657S(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACTAAATGAGCTGGAAAGTTT	0.289																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(4969-4971)GCT>TCT		activating signal cointegrator 1 complex subunit							40.0	46.0	44.0					6																	101054691		2203	4297	6500	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101054691C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4969G>T	6.37:g.101054691C>A	ENSP00000358159:p.Ala1657Ser						p.A1657S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	32	5298	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1657			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4969G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749183	0.89753	.	.	ENSG00000112249	ENST00000369162	T	0.52295	0.67	5.78	4.91	0.64330	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69584	0.3127	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78267	-0.2270	10	0.56958	D	0.05	.	16.3119	0.82874	0.1333:0.8667:0.0:0.0	.	1657	Q8N3C0	HELC1_HUMAN	S	1657	ENSP00000358159:A1657S	ENSP00000358159:A1657S	A	-	1	0	ASCC3	101161412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.682000	0.84083	1.422000	0.47177	0.585000	0.79938	GCT		PASS	0.289	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		29	59	29	59	---	---	---	---
METTL24	728464	broad.mit.edu	37	6	110620282	110620282	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:110620282G>A	ENST00000338882.4	-	4	628	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	210						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)	p.P210L(1)									CTTGACACTAGGATCAAAACG	0.473																																						uc010kdu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)CCT>CTT		chromosome 6 open reading frame 186 precursor							146.0	121.0	129.0					6																	110620282		1568	3582	5150	SO:0001583	missense	728464					extracellular region		g.chr6:110620282G>A		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.629C>T	6.37:g.110620282G>A	ENSP00000344071:p.Pro210Leu					C6orf186_uc003pub.2_Missense_Mutation_p.P13L	p.P210L	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN			4	629	-			210					Q6ZSU5	Missense_Mutation	SNP	ENST00000338882.4	37	c.629C>T	CCDS43489.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893325	0.72524	.	.	ENSG00000053328	ENST00000338882	T	0.64618	-0.11	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78542	-0.2164	10	0.66056	D	0.02	-14.0543	19.5353	0.95251	0.0:0.0:1.0:0.0	.	210	Q5JXM2	CF186_HUMAN	L	210	ENSP00000344071:P210L	ENSP00000344071:P210L	P	-	2	0	C6orf186	110726975	1.000000	0.71417	0.960000	0.40013	0.320000	0.28249	8.811000	0.91954	2.607000	0.88179	0.655000	0.94253	CCT		PASS	0.473	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		36	95	36	95	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112462046	112462046	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:112462046C>A	ENST00000230538.7	-	22	3289	c.2892G>T	c.(2890-2892)ggG>ggT	p.G964G	LAMA4_ENST00000389463.4_Silent_p.G957G|LAMA4_ENST00000424408.2_Silent_p.G957G|LAMA4_ENST00000522006.1_Silent_p.G957G	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	964	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.G957G(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCGAAAATTCCCCCTTTTTAA	0.438																																						uc003pvu.2																			1	Substitution - coding silent(1)	p.S964S(1)	lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2890-2892)GGG>GGT		laminin, alpha 4 isoform 1 precursor							104.0	101.0	102.0					6																	112462046		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462046C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2892G>T	6.37:g.112462046C>A						LAMA4_uc003pvv.2_Silent_p.G957G|LAMA4_uc003pvt.2_Silent_p.G957G	p.G964G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	22	3201	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	964			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2892G>T	CCDS43491.1																																																																																				PASS	0.438	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		40	66	40	66	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128134125	128134125	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:128134125G>T	ENST00000368248.2	-	4	1809	c.1661C>A	c.(1660-1662)cCa>cAa	p.P554Q	THEMIS_ENST00000543064.1_Missense_Mutation_p.P554Q|THEMIS_ENST00000368250.1_Missense_Mutation_p.P475Q|THEMIS_ENST00000537166.1_Missense_Mutation_p.P519Q	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	554					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P554Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGCGAGGTGGGGGATGTGA	0.493																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1660-1662)CCA>CAA		thymocyte selection pathway associated isoform							110.0	112.0	111.0					6																	128134125		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134125G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1661C>A	6.37:g.128134125G>T	ENSP00000357231:p.Pro554Gln					THEMIS_uc010kfa.2_Missense_Mutation_p.P457Q|THEMIS_uc011ebt.1_Missense_Mutation_p.P554Q|THEMIS_uc010kfb.2_Missense_Mutation_p.P519Q	p.P554Q	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1980	-			554					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1661C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768549	0.69878	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.71222	-0.55;-0.11;-0.4;-0.51	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	M	0.65498	2.005	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82358	-0.0497	10	0.87932	D	0	-14.5978	20.2723	0.98479	0.0:0.0:1.0:0.0	.	554;554	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Q	475;554;554;519	ENSP00000357233:P475Q;ENSP00000439594:P554Q;ENSP00000357231:P554Q;ENSP00000439863:P519Q	ENSP00000357231:P554Q	P	-	2	0	THEMIS	128175818	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	7.842000	0.86851	2.793000	0.96121	0.563000	0.77884	CCA		PASS	0.493	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		58	91	58	91	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129635857	129635857	+	Missense_Mutation	SNP	G	G	T	rs575405390		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:129635857G>T	ENST00000421865.2	+	24	3518	c.3469G>T	c.(3469-3471)Gcc>Tcc	p.A1157S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1157	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.A1157S(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGACTCGATGCCAAGAATCC	0.522																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(3469-3471)GCC>TCC		laminin alpha 2 subunit isoform a precursor							74.0	68.0	70.0					6																	129635857		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129635857G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3469G>T	6.37:g.129635857G>T	ENSP00000400365:p.Ala1157Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.A1157S	p.A1157S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	24	3574	+			1157			Laminin EGF-like 13.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3469G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143903	0.77888	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.53857	0.6	5.59	4.72	0.59763	EGF-like, laminin (3);	0.136432	0.49916	D	0.000131	T	0.43433	0.1247	N	0.16743	0.435	0.38777	D	0.954685	D;D	0.67145	0.996;0.993	D;P	0.65443	0.935;0.885	T	0.50659	-0.8802	10	0.40728	T	0.16	.	14.3856	0.66942	0.0711:0.0:0.9289:0.0	.	1157;1157	A6NF00;P24043	.;LAMA2_HUMAN	S	1157	ENSP00000400365:A1157S	ENSP00000346769:A1157S	A	+	1	0	LAMA2	129677550	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	3.415000	0.52700	1.378000	0.46305	0.655000	0.94253	GCC		PASS	0.522	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			29	44	29	44	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131216113	131216113	+	Silent	SNP	C	C	T	rs531092647		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:131216113C>T	ENST00000337057.3	-	9	1564	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	EPB41L2_ENST00000392427.3_Silent_p.P461P|EPB41L2_ENST00000527659.1_Silent_p.P461P|EPB41L2_ENST00000530481.1_Silent_p.P461P|EPB41L2_ENST00000445890.2_Silent_p.P461P|EPB41L2_ENST00000525193.1_Silent_p.P461P|EPB41L2_ENST00000368128.2_Silent_p.P461P|EPB41L2_ENST00000527411.1_Silent_p.P461P|EPB41L2_ENST00000529208.1_Silent_p.P461P|EPB41L2_ENST00000528282.1_Silent_p.P461P|EPB41L2_ENST00000525271.1_Silent_p.P461P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	461	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.P461P(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTACCTCTGCCGGTCTGACTT	0.333													T|||	1	0.000199681	0.0	0.0	5008	,	,		18402	0.0		0.0	False		,,,				2504	0.001					uc003qch.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1381-1383)CCG>CCA		erythrocyte membrane protein band 4.1-like 2							79.0	71.0	74.0					6																	131216113		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131216113C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1383G>A	6.37:g.131216113C>T						EPB41L2_uc003qcg.1_Silent_p.P461P|EPB41L2_uc011eby.1_Silent_p.P461P|EPB41L2_uc003qci.2_Silent_p.P461P|EPB41L2_uc010kfk.2_Silent_p.P461P|EPB41L2_uc010kfl.1_Silent_p.P461P	p.P461P	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	9	1565	-	Breast(56;0.0639)		461			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1383G>A	CCDS5141.1																																																																																				PASS	0.333	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			16	52	16	52	---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149854712	149854712	+	Splice_Site	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:149854712T>A	ENST00000253329.2	-	7	594		c.e7-2			NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4						protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCGACCACTCTGTTAAGACAG	0.313																																						uc003qmo.1																			1	Unknown(1)		lung(1)		0						c.e7-1		peptidylprolyl isomerase-like 4							77.0	69.0	72.0					6																	149854712		2201	4299	6500	SO:0001630	splice_region_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149854712T>A		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.562-2A>T	6.37:g.149854712T>A						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Splice_Site_p.S188_splice	p.S188_splice	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	7	592	-		Ovarian(120;0.0164)						B2RD34|Q7Z3Q5	Splice_Site	SNP	ENST00000253329.2	37	c.562_splice	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096682	0.76870	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3709	0.83357	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPIL4	149896405	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	7.453000	0.80700	2.261000	0.74972	0.528000	0.53228	.		PASS	0.313	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1		Intron	13	31	13	31	---	---	---	---
IYD	389434	broad.mit.edu	37	6	150715308	150715308	+	Missense_Mutation	SNP	G	G	T	rs146905706	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr6:150715308G>T	ENST00000344419.3	+	4	744	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S	IYD_ENST00000425615.3_Missense_Mutation_p.A147S|IYD_ENST00000392255.3_Missense_Mutation_p.A202S|IYD_ENST00000392256.2_Missense_Mutation_p.A202S|IYD_ENST00000500320.3_Missense_Mutation_p.A202S|IYD_ENST00000229447.5_Missense_Mutation_p.A202S	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	202					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.A202S(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ACATGGTTTCGCCGCAAATGG	0.418																																						uc003qnu.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(604-606)GCC>TCC		iodotyrosine dehalogenase 1 isoform 2							120.0	108.0	112.0					6																	150715308		2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715308G>T	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.604G>T	6.37:g.150715308G>T	ENSP00000343763:p.Ala202Ser					IYD_uc003qnv.1_Missense_Mutation_p.A202S|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.A202S|IYD_uc010kik.1_Missense_Mutation_p.A120S	p.A202S	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	744	+		Ovarian(120;0.028)	202			Extracellular (Potential).		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.604G>T	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	G	0.522	-0.861885	0.02610	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	-2.24	0.06909	Nitroreductase-like (3);	0.660669	0.15491	N	0.259587	T	0.29914	0.0748	L	0.28556	0.865	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.14023	0.01;0.01;0.001;0.004	T	0.20773	-1.0265	10	0.08837	T	0.75	-18.3438	1.0855	0.01651	0.4289:0.201:0.1762:0.1939	.	120;202;202;202	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	S	202;202;202;202;202;147	ENSP00000229447:A202S;ENSP00000343763:A202S;ENSP00000376085:A202S;ENSP00000376084:A202S;ENSP00000441276:A202S;ENSP00000390081:A147S	ENSP00000229447:A202S	A	+	1	0	IYD	150757001	0.003000	0.15002	0.001000	0.08648	0.161000	0.22273	-0.375000	0.07475	-0.284000	0.09102	-0.181000	0.13052	GCC		PASS	0.418	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		49	65	49	65	---	---	---	---
ZNF12	7559	broad.mit.edu	37	7	6737029	6737029	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:6737029A>C	ENST00000405858.1	-	4	720	c.179T>G	c.(178-180)tTg>tGg	p.L60W	ZNF12_ENST00000342651.5_Missense_Mutation_p.L60W|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.L24W	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L60W(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCCTTGCTCCAACTTGCTGAT	0.473																																						uc003sqt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)TTG>TGG		zinc finger protein 12 isoform a							89.0	89.0	89.0					7																	6737029		2071	4237	6308	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6737029A>C	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.179T>G	7.37:g.6737029A>C	ENSP00000385939:p.Leu60Trp					ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.L60W	p.L60W	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	4	733	-		Ovarian(82;0.0776)	60			KRAB.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.179T>G	CCDS47538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.1|21.1	4.094440|4.094440	0.76870|0.76870	.|.	.|.	ENSG00000164631|ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442|ENST00000394917	T;T;T|T	0.52526|0.01871	5.39;0.66;0.66|4.59	4.12|4.12	4.12|4.12	0.48240|0.48240	Krueppel-associated box (3);|.	0.000000|.	0.32301|.	N|.	0.006289|.	T|T	0.22166|0.22166	0.0534|0.0534	H|H	0.98507|0.98507	4.25|4.25	0.36270|0.36270	D|D	0.855082|0.855082	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.49890|0.49890	-0.8891|-0.8891	10|7	0.87932|0.87932	D|D	0|0	.|.	11.7403|11.7403	0.51788|0.51788	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	60;60|.	P17014;P17014-5|.	ZNF12_HUMAN;.|.	W|G	24;60;60;118;24|59	ENSP00000384405:L24W;ENSP00000385939:L60W;ENSP00000344745:L60W|ENSP00000378375:W59G	ENSP00000331039:L24W|ENSP00000378375:W59G	L|W	-|-	2|1	0|0	ZNF12|ZNF12	6703554|6703554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.338000|5.338000	0.65947|0.65947	2.102000|2.102000	0.63906|0.63906	0.477000|0.477000	0.44152|0.44152	TTG|TGG		PASS	0.473	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		7	8	7	8	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13950914	13950914	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:13950914G>A	ENST00000430479.1	-	10	1488	c.821C>T	c.(820-822)tCc>tTc	p.S274F	ETV1_ENST00000405218.2_Missense_Mutation_p.S274F|ETV1_ENST00000403685.1_Missense_Mutation_p.S256F|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Missense_Mutation_p.S256F|ETV1_ENST00000420159.2_Missense_Mutation_p.S216F|ETV1_ENST00000343495.5_Missense_Mutation_p.S256F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.S288F|ETV1_ENST00000399357.3_Missense_Mutation_p.S171F|ETV1_ENST00000403527.1_Missense_Mutation_p.S234F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	274					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S274F(1)|p.S234F(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATATAAATGGAGTGGCAGCT	0.448			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	2	Substitution - Missense(2)		lung(2)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(820-822)TCC>TTC		ets variant gene 1 isoform a							66.0	65.0	66.0					7																	13950914		1904	4117	6021	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13950914G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.821C>T	7.37:g.13950914G>A	ENSP00000405327:p.Ser274Phe					ETV1_uc011jxn.1_Missense_Mutation_p.S234F|ETV1_uc011jxo.1_Missense_Mutation_p.S171F|ETV1_uc011jxp.1_Missense_Mutation_p.S216F|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.S256F|ETV1_uc011jxs.1_Missense_Mutation_p.S256F|ETV1_uc010ktv.2_Missense_Mutation_p.S143F	p.S274F	NM_004956	NP_004947	P50549	ETV1_HUMAN			10	1560	-			274	Missing (in Ref. 5; AAC62435).				A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.821C>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211715	0.95069	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.73598	2.24	0.80722	D	1	P;D;P;D;P;D	0.59767	0.876;0.963;0.891;0.958;0.911;0.986	P;P;P;D;P;D	0.64877	0.837;0.771;0.571;0.917;0.678;0.93	T	0.64719	-0.6341	10	0.87932	D	0	.	19.3454	0.94361	0.0:0.0:1.0:0.0	.	256;288;216;171;234;216	P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618	.;.;.;.;.;.	F	274;256;256;216;171;288;234;274;256;216;171	ENSP00000405327:S274F;ENSP00000242066:S256F;ENSP00000340853:S256F;ENSP00000411626:S216F;ENSP00000382293:S171F;ENSP00000384085:S288F;ENSP00000384138:S234F;ENSP00000385551:S274F;ENSP00000385686:S256F;ENSP00000393078:S216F;ENSP00000394710:S171F	ENSP00000242066:S256F	S	-	2	0	ETV1	13917439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.736000	0.93811	0.591000	0.81541	TCC		PASS	0.448	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		15	41	15	41	---	---	---	---
MEOX2	4223	broad.mit.edu	37	7	15652196	15652196	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:15652196C>A	ENST00000262041.5	-	3	1140	c.731G>T	c.(730-732)aGg>aTg	p.R244M		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	244					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.R244M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ACCCTTTACCCTCTTCCACTT	0.448																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(730-732)AGG>ATG		mesenchyme homeobox 2							124.0	123.0	123.0					7																	15652196		2203	4300	6503	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15652196C>A		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.731G>T	7.37:g.15652196C>A	ENSP00000262041:p.Arg244Met					MEOX2_uc011jxw.1_Missense_Mutation_p.R244M	p.R244M	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	3	1012	-			244			Homeobox.		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.731G>T	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761943	0.49468	.	.	ENSG00000106511	ENST00000262041	D	0.96745	-4.11	5.78	5.78	0.91487	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.051238	0.85682	D	0.000000	D	0.98295	0.9435	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	10	0.87932	D	0	-15.5112	20.0118	0.97458	0.0:1.0:0.0:0.0	.	244	P50222	MEOX2_HUMAN	M	244	ENSP00000262041:R244M	ENSP00000262041:R244M	R	-	2	0	MEOX2	15618721	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	7.456000	0.80751	2.744000	0.94065	0.563000	0.77884	AGG		PASS	0.448	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		129	82	129	82	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21932154	21932154	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:21932154T>A	ENST00000409508.3	+	77	12650	c.12619T>A	c.(12619-12621)Tat>Aat	p.Y4207N	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y4214N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4214					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y4214N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCGGCACTGTATGGCCTCCA	0.517									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(12640-12642)TAT>AAT		dynein, axonemal, heavy chain 11							112.0	111.0	112.0					7																	21932154		1936	4131	6067	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21932154T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12619T>A	7.37:g.21932154T>A	ENSP00000475939:p.Tyr4207Asn						p.Y4214N	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			78	12671	+			4214					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12640T>A		.	.	.	.	.	.	.	.	.	.	T	20.2	3.948112	0.73787	.	.	ENSG00000105877	ENST00000328843	T	0.11277	2.79	5.97	5.97	0.96955	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.31638	0.0803	.	.	.	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.03008	-1.1083	9	0.87932	D	0	.	12.0252	0.53367	0.1294:0.0:0.0:0.8706	.	4214	Q96DT5	DYH11_HUMAN	N	4214	ENSP00000330671:Y4214N	ENSP00000330671:Y4214N	Y	+	1	0	DNAH11	21898679	1.000000	0.71417	0.933000	0.37362	0.737000	0.42083	5.162000	0.64942	2.288000	0.76882	0.533000	0.62120	TAT		PASS	0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		65	175	65	175	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40488957	40488957	+	Splice_Site	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:40488957G>T	ENST00000335693.4	+	10	932	c.909G>T	c.(907-909)aaG>aaT	p.K303N	C7orf10_ENST00000401647.2_Splice_Site_p.K255N|C7orf10_ENST00000309930.5_Splice_Site_p.K303N	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		303					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.K303N(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCGTCTGCAAGGTAATCTATA	0.403																																						uc003thn.1																			2	Substitution - Missense(2)	p.Q296H(1)	lung(2)	ovary(2)	2						c.(886-888)AAG>AAT		dermal papilla derived protein 13							99.0	94.0	96.0					7																	40488957		1834	4096	5930	SO:0001630	splice_region_variant	79783						transferase activity	g.chr7:40488957G>T																												ENST00000335693.4:c.909+1G>T	7.37:g.40488957G>T						C7orf10_uc003thm.1_Missense_Mutation_p.K266N|C7orf10_uc003tho.1_Missense_Mutation_p.K248N	p.K296N	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			10	933	+			303					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.888G>T	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.781|9.781	1.175238|1.175238	0.21704|0.21704	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.78126|.	-1.15;-1.15;-1.15|.	5.4|5.4	5.4|5.4	0.78164|0.78164	CoA-transferase family III domain (2);|.	0.286793|.	0.37906|.	N|.	0.001896|.	T|T	0.59266|0.59266	0.2181|0.2181	L|L	0.37507|0.37507	1.11|1.11	0.80722|0.80722	D|D	1|1	B;B;B|.	0.23185|.	0.009;0.038;0.081|.	B;B;B|.	0.24155|.	0.013;0.013;0.051|.	T|T	0.53641|0.53641	-0.8410|-0.8410	10|5	0.37606|.	T|.	0.19|.	-18.0812|-18.0812	16.4582|16.4582	0.84029|0.84029	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	255;303;266|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	N|I	303;255;303|298	ENSP00000312054:K303N;ENSP00000385222:K255N;ENSP00000338475:K303N|.	ENSP00000312054:K303N|.	K|R	+|+	3|2	2|0	C7orf10|C7orf10	40455482|40455482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.338000|0.338000	0.28826|0.28826	5.541000|5.541000	0.67212|0.67212	2.677000|2.677000	0.91161|0.91161	0.650000|0.650000	0.86243|0.86243	AAG|AGA		PASS	0.403	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		Missense_Mutation	8	70	8	70	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315262	48315262	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:48315262C>T	ENST00000435803.1	+	17	6023	c.5999C>T	c.(5998-6000)tCa>tTa	p.S2000L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2000					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S2000L(1)|p.S1945L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTATTTCCTCAAATTTGGAA	0.323																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5998-6000)TCA>TTA		ATP binding cassette, sub-family A (ABC1),							19.0	18.0	18.0					7																	48315262		1820	4062	5882	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315262C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5999C>T	7.37:g.48315262C>T	ENSP00000411096:p.Ser2000Leu					ABCA13_uc010kyr.2_Missense_Mutation_p.S1503L	p.S2000L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	6024	+			2000					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5999C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.652579	0.00785	.	.	ENSG00000179869	ENST00000435803	T	0.11063	2.81	4.24	0.484	0.16825	.	1.187850	0.06431	N	0.724181	T	0.03348	0.0097	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44174	-0.9345	9	.	.	.	.	5.1076	0.14793	0.1375:0.1781:0.0:0.6844	.	2000	Q86UQ4	ABCAD_HUMAN	L	2000	ENSP00000411096:S2000L	.	S	+	2	0	ABCA13	48285808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.504000	0.22626	0.002000	0.14630	-1.200000	0.01667	TCA		PASS	0.323	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	30	4	30	---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64439246	64439246	+	Nonsense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:64439246T>A	ENST00000282869.6	-	4	1987	c.703A>T	c.(703-705)Aag>Tag	p.K235*		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	235					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K235*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCAGTAAGCTTTGAGGCTTGG	0.363																																						uc003ttr.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(703-705)AAG>TAG		zinc finger protein 117							80.0	89.0	86.0					7																	64439246		2165	4284	6449	SO:0001587	stop_gained	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439246T>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.703A>T	7.37:g.64439246T>A	ENSP00000282869:p.Lys235*						p.K235*	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	1988	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	235			C2H2-type 5.		Q02313|Q7Z7Q7	Nonsense_Mutation	SNP	ENST00000282869.6	37	c.703A>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	44	10.888477	0.99483	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	.	.	.	1.2	-0.915	0.10494	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	4.2819	0.10836	0.2971:0.0:0.0:0.7029	.	.	.	.	X	235	.	ENSP00000282869:K235X	K	-	1	0	ZNF117	64076681	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-1.049000	0.03514	-0.513000	0.06496	0.172000	0.16884	AAG		PASS	0.363	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		74	120	74	120	---	---	---	---
EPO	2056	broad.mit.edu	37	7	100320735	100320735	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:100320735C>A	ENST00000252723.2	+	5	742	c.561C>A	c.(559-561)gcC>gcA	p.A187A		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	187					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)	p.A187A(1)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGGGGAGGCCTGCAGGACAG	0.577																																						uc003uwi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(559-561)GCC>GCA		erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						87.0	88.0	87.0					7																	100320735		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320735C>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.561C>A	7.37:g.100320735C>A						EPO_uc011kkc.1_Silent_p.A186A	p.A187A	NM_000799	NP_000790	P01588	EPO_HUMAN			5	742	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		187					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.561C>A	CCDS5705.1																																																																																				PASS	0.577	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		94	132	94	132	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677408	100677408	+	Nonsense_Mutation	SNP	C	C	A	rs139093882		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:100677408C>A	ENST00000306151.4	+	3	2775	c.2711C>A	c.(2710-2712)tCg>tAg	p.S904*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	904	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S904*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCCGTTCGTCTCCTACA	0.532																																						uc003uxp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2710-2712)TCG>TAG		mucin 17 precursor							319.0	301.0	307.0					7																	100677408		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677408C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2711C>A	7.37:g.100677408C>A	ENSP00000302716:p.Ser904*					MUC17_uc010lho.1_RNA	p.S904*	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2764	+	Lung NSC(181;0.136)|all_lung(186;0.182)		904			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.2711C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487925	0.96323	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.838	0.838	0.18902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6557	0.28373	0.0:1.0:0.0:0.0	.	.	.	.	X	904	.	ENSP00000302716:S904X	S	+	2	0	MUC17	100464128	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	1.807000	0.38902	0.790000	0.33803	0.134000	0.15878	TCG		PASS	0.532	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		209	321	209	321	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103159907	103159907	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:103159907G>A	ENST00000428762.1	-	49	7884	c.7725C>T	c.(7723-7725)atC>atT	p.I2575I	RELN_ENST00000343529.5_Silent_p.I2575I|RELN_ENST00000424685.2_Silent_p.I2575I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2575					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.I2575I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTAAAATTGGATGAACTCAG	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7723-7725)ATC>ATT		reelin isoform a							124.0	105.0	111.0					7																	103159907		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103159907G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7725C>T	7.37:g.103159907G>A						RELN_uc010liz.2_Silent_p.I2575I	p.I2575I	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	49	7885	-			2575					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.7725C>T	CCDS47680.1																																																																																				PASS	0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		56	92	56	92	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103293015	103293015	+	Silent	SNP	C	C	A	rs138532222		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:103293015C>A	ENST00000428762.1	-	14	1905	c.1746G>T	c.(1744-1746)acG>acT	p.T582T	RELN_ENST00000343529.5_Silent_p.T582T|RELN_ENST00000424685.2_Silent_p.T582T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	582					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.T582T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGGCTGATGCGTTCCACATC	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1744-1746)ACG>ACT		reelin isoform a		C	,	1,4405	2.1+/-5.4	0,1,2202	96.0	94.0	94.0		1746,1746	-11.3	0.8	7	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,	582/3461,582/3459	103293015	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103293015C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1746G>T	7.37:g.103293015C>A						RELN_uc010liz.2_Silent_p.T582T	p.T582T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	14	1906	-			582					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1746G>T	CCDS47680.1																																																																																				PASS	0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		49	87	49	87	---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635423	122635423	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:122635423T>C	ENST00000249284.2	-	1	331	c.266A>G	c.(265-267)aAt>aGt	p.N89S		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	89					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.N89S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTAAGGATATTAAAAAATTC	0.383																																						uc003vkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(265-267)AAT>AGT		taste receptor T2R16							61.0	63.0	62.0					7																	122635423		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635423T>C	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.266A>G	7.37:g.122635423T>C	ENSP00000249284:p.Asn89Ser						p.N89S	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	332	-			89			Helical; Name=3; (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.266A>G	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413243	0.42817	.	.	ENSG00000128519	ENST00000249284	T	0.01113	5.32	4.47	3.32	0.38043	.	0.211136	0.39020	N	0.001491	T	0.05044	0.0135	M	0.81942	2.565	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.15065	-1.0450	10	0.51188	T	0.08	.	6.5316	0.22330	0.0:0.1086:0.0:0.8914	.	89	Q9NYV7	T2R16_HUMAN	S	89	ENSP00000249284:N89S	ENSP00000249284:N89S	N	-	2	0	TAS2R16	122422659	0.276000	0.24211	0.010000	0.14722	0.022000	0.10575	0.818000	0.27295	0.858000	0.35431	0.533000	0.62120	AAT		PASS	0.383	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		48	51	48	51	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123136930	123136930	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:123136930A>G	ENST00000466202.1	-	7	1630	c.1054T>C	c.(1054-1056)Tgg>Cgg	p.W352R	IQUB_ENST00000434450.1_Missense_Mutation_p.W352R|IQUB_ENST00000324698.6_Missense_Mutation_p.W352R	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	352	IQ.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.W352R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTAGCATGCCATTGCCTGTAG	0.338																																						uc003vkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1054-1056)TGG>CGG		IQ motif and ubiquitin domain containing							95.0	86.0	89.0					7																	123136930		2202	4300	6502	SO:0001583	missense	154865							g.chr7:123136930A>G	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1054T>C	7.37:g.123136930A>G	ENSP00000417769:p.Trp352Arg					IQUB_uc003vko.2_Missense_Mutation_p.W352R|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.W352R	p.W352R	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			7	1631	-			352			IQ.		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.1054T>C	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255374	0.59321	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.54479	1.63;1.63;0.57	5.14	5.14	0.70334	.	0.115114	0.64402	D	0.000005	T	0.73590	0.3606	M	0.81341	2.54	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.78324	-0.2248	10	0.87932	D	0	.	15.2475	0.73517	1.0:0.0:0.0:0.0	.	352;352	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	R	352	ENSP00000417769:W352R;ENSP00000324882:W352R;ENSP00000388498:W352R	ENSP00000324882:W352R	W	-	1	0	IQUB	122924166	1.000000	0.71417	0.962000	0.40283	0.527000	0.34593	7.002000	0.76304	2.054000	0.61138	0.460000	0.39030	TGG		PASS	0.338	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		62	80	62	80	---	---	---	---
HYAL4	23553	broad.mit.edu	37	7	123517097	123517097	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:123517097A>C	ENST00000223026.4	+	5	1972	c.1334A>C	c.(1333-1335)gAt>gCt	p.D445A	HYAL4_ENST00000476325.1_Missense_Mutation_p.D445A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	445					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.D445A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GAAGGAGCTGATTGCAGAGAA	0.453																																						uc003vlc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1333-1335)GAT>GCT		hyaluronoglucosaminidase 4							121.0	124.0	123.0					7																	123517097		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123517097A>C	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1334A>C	7.37:g.123517097A>C	ENSP00000223026:p.Asp445Ala					HYAL4_uc011knz.1_3'UTR	p.D445A	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			5	1972	+			445			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.1334A>C	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312400	0.23908	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.16897	2.31;2.31	5.77	3.37	0.38596	Epidermal growth factor-like (1);	0.314709	0.34828	N	0.003657	T	0.12944	0.0314	L	0.43152	1.355	0.31286	N	0.690021	B	0.18310	0.027	B	0.17433	0.018	T	0.19484	-1.0304	10	0.18276	T	0.48	-16.4356	7.9594	0.30062	0.7901:0.1378:0.0721:0.0	.	445	Q2M3T9	HYAL4_HUMAN	A	445	ENSP00000223026:D445A;ENSP00000417186:D445A	ENSP00000223026:D445A	D	+	2	0	HYAL4	123304333	0.279000	0.24239	0.516000	0.27786	0.807000	0.45602	1.534000	0.36051	0.526000	0.28541	0.528000	0.53228	GAT		PASS	0.453	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		80	124	80	124	---	---	---	---
SND1	27044	broad.mit.edu	37	7	127338939	127338939	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:127338939G>T	ENST00000354725.3	+	4	554	c.360G>T	c.(358-360)ggG>ggT	p.G120G		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	120	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.G120G(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ATACCAATGGGGAAAACATTG	0.468																																						uc003vmi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(358-360)GGG>GGT		staphylococcal nuclease domain containing 1							84.0	80.0	81.0					7																	127338939		2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127338939G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.360G>T	7.37:g.127338939G>T							p.G120G	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			4	586	+			120			TNase-like 1.		Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.360G>T	CCDS34747.1																																																																																				PASS	0.468	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		31	48	31	48	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137082134	137082134	+	Silent	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:137082134T>A	ENST00000288490.5	-	32	2970	c.2970A>T	c.(2968-2970)gcA>gcT	p.A990A	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Silent_p.A972A|DGKI_ENST00000424189.2_Silent_p.A1003A|DGKI_ENST00000453654.2_Silent_p.A659A	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	990					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A990A(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTTCACTGTCTGCCATATCCA	0.343																																						uc003vtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2968-2970)GCA>GCT		diacylglycerol kinase, iota							103.0	97.0	99.0					7																	137082134		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137082134T>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2970A>T	7.37:g.137082134T>A						DGKI_uc003vtu.2_Silent_p.A659A	p.A990A	NM_004717	NP_004708	O75912	DGKI_HUMAN			32	2971	-			990			ANK 1.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.2970A>T	CCDS5845.1																																																																																				PASS	0.343	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		72	104	72	104	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140373228	140373228	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:140373228G>A	ENST00000072869.4	+	1	276	c.98G>A	c.(97-99)tGc>tAc	p.C33Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.C33Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	33						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C33Y(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCCTCCGAGTGCCCTCGCGAT	0.667																																						uc003vvy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TGC>TAC		aarF domain containing kinase 2							11.0	11.0	11.0					7																	140373228		2184	4267	6451	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373228G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.98G>A	7.37:g.140373228G>A	ENSP00000072869:p.Cys33Tyr					ADCK2_uc003vvz.2_Missense_Mutation_p.C33Y	p.C33Y	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN			1	276	+	Melanoma(164;0.00956)		33					Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.98G>A	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363632	0.24684	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.44881	0.91;0.91	3.87	1.94	0.25998	.	0.717043	0.12064	N	0.502848	T	0.25717	0.0626	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.16867	-1.0388	10	0.38643	T	0.18	-41.5097	7.308	0.26459	0.1031:0.1716:0.7254:0.0	.	33;33	C9JE15;Q7Z695	.;ADCK2_HUMAN	Y	33	ENSP00000072869:C33Y;ENSP00000420512:C33Y	ENSP00000072869:C33Y	C	+	2	0	ADCK2	140019697	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.159000	0.10056	0.809000	0.34255	0.491000	0.48974	TGC		PASS	0.667	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		16	18	16	18	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140449164	140449164	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:140449164C>T	ENST00000288602.6	-	16	1975	c.1915G>A	c.(1915-1917)Gta>Ata	p.V639I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V639I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AATGCATATACATCTGACTGA	0.343		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	1	Substitution - Missense(1)		lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1915-1917)GTA>ATA		B-Raf	Sorafenib(DB00398)						108.0	111.0	110.0					7																	140449164		2202	4300	6502	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140449164C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1915G>A	7.37:g.140449164C>T	ENSP00000288602:p.Val639Ile						p.V639I	NM_004333	NP_004324	P15056	BRAF_HUMAN			16	1976	-	Melanoma(164;0.00956)		639			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1915G>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.638153|3.638153	0.67130|0.67130	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.87256	.|-2.23	5.02|5.02	5.02|5.02	0.67125|0.67125	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87605|0.87605	0.6219|0.6219	N|N	0.16833|0.16833	0.445|0.445	0.80722|0.80722	D|D	1|1	.|P	.|0.49783	.|0.928	.|P	.|0.59761	.|0.863	D|D	0.89944|0.89944	0.4075|0.4075	5|10	.|0.87932	.|D	.|0	.|.	18.7092|18.7092	0.91649|0.91649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|639	.|P15056	.|BRAF_HUMAN	I|I	246|639	.|ENSP00000288602:V639I	.|ENSP00000288602:V639I	M|V	-|-	3|1	0|0	BRAF|BRAF	140095633|140095633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.776000|7.776000	0.85560|0.85560	2.502000|2.502000	0.84385|0.84385	0.462000|0.462000	0.41574|0.41574	ATG|GTA		PASS	0.343	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		61	76	61	76	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151962224	151962224	+	Silent	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr7:151962224A>T	ENST00000262189.6	-	8	1301	c.1083T>A	c.(1081-1083)acT>acA	p.T361T	KMT2C_ENST00000355193.2_Silent_p.T361T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	361					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T361T(2)									GCTGACCACAAGTAGTACAAA	0.448																																						uc003wla.2										N							medulloblastoma		2	Substitution - coding silent(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1081-1083)ACT>ACA		myeloid/lymphoid or mixed-lineage leukemia 3							308.0	279.0	289.0					7																	151962224		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962224A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1083T>A	7.37:g.151962224A>T							p.T361T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1302	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	361			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1083T>A	CCDS5931.1																																																																																				PASS	0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			33	533	33	533	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1626444	1626444	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:1626444G>T	ENST00000421627.2	+	9	2247	c.2113G>T	c.(2113-2115)Ggg>Tgg	p.G705W		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	784					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.G713W(1)|p.G749W(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGAGCTGGAGGGGTTCCCAGG	0.607																																						uc003wpl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2113-2115)GGG>TGG		discs large-associated protein 2							57.0	65.0	62.0					8																	1626444		2117	4210	6327	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626444G>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2113G>T	8.37:g.1626444G>T	ENSP00000400258:p.Gly705Trp					DLGAP2_uc003wpm.2_Missense_Mutation_p.G691W	p.G705W	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2210	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	784					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2113G>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.805911|4.805911	0.90623|0.90623	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19669|.	2.13|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76652|0.76652	0.4017|0.4017	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.76694|0.76694	-0.2865|-0.2865	10|5	0.87932|.	D|.	0|.	-15.3281|-15.3281	18.7121|18.7121	0.91661|0.91661	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	770;784|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	W|S	736;705|707	ENSP00000400258:G705W|.	ENSP00000348366:G736W|.	G|R	+|+	1|3	0|2	DLGAP2|DLGAP2	1613851|1613851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.298000|7.298000	0.78815|0.78815	2.406000|2.406000	0.81754|0.81754	0.557000|0.557000	0.71058|0.71058	GGG|AGG		PASS	0.607	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		39	38	39	38	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16026001	16026001	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:16026001C>T	ENST00000262101.5	-	4	717	c.596G>A	c.(595-597)gGc>gAc	p.G199D	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.G199D|MSR1_ENST00000350896.3_Missense_Mutation_p.G199D|MSR1_ENST00000381998.4_Missense_Mutation_p.G199D|MSR1_ENST00000445506.2_Missense_Mutation_p.G217D			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	199					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.G199D(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTGGATTTTGCCATTCAGATT	0.413																																						uc003wwz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(595-597)GGC>GAC		macrophage scavenger receptor 1 isoform type 1							98.0	92.0	94.0					8																	16026001		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026001C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.596G>A	8.37:g.16026001C>T	ENSP00000262101:p.Gly199Asp					MSR1_uc010lsu.2_Missense_Mutation_p.G217D|MSR1_uc003wxa.2_Missense_Mutation_p.G199D|MSR1_uc003wxb.2_Missense_Mutation_p.G199D|MSR1_uc011kxz.1_Intron	p.G199D	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	794	-			199			Potential.|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.596G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	2.916	-0.224271	0.06061	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.15	-4.07	0.03975	.	0.839748	0.10580	N	0.658021	T	0.55353	0.1915	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.12013	0.003;0.002;0.005;0.001	B;B;B;B	0.12156	0.003;0.004;0.007;0.002	T	0.45220	-0.9276	10	0.11182	T	0.66	.	0.7778	0.01035	0.2536:0.2392:0.1181:0.3891	.	217;199;199;199	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	D	199;199;217;199;199	ENSP00000262100:G199D;ENSP00000262101:G199D;ENSP00000405453:G217D;ENSP00000347430:G199D;ENSP00000371428:G199D	ENSP00000262101:G199D	G	-	2	0	MSR1	16070372	0.000000	0.05858	0.004000	0.12327	0.334000	0.28698	-1.456000	0.02377	-0.890000	0.03945	-0.145000	0.13849	GGC		PASS	0.413	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			32	48	32	48	---	---	---	---
MICU3	286097	broad.mit.edu	37	8	16942784	16942784	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:16942784A>T	ENST00000318063.5	+	6	776	c.734A>T	c.(733-735)gAc>gTc	p.D245V		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	245	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.D245V(1)									AACATGTTTGACACTGATGGC	0.318																																						uc003wxd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(733-735)GAC>GTC		EF-hand domain family, member A2							131.0	133.0	132.0					8																	16942784		2203	4300	6503	SO:0001583	missense	286097					integral to membrane	calcium ion binding	g.chr8:16942784A>T	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.734A>T	8.37:g.16942784A>T	ENSP00000321455:p.Asp245Val						p.D245V	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	6	776	+			245			EF-hand 1.|1 (Potential).		Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.734A>T	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.356893|4.356893	0.82243|0.82243	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	D|.	0.96073|.	-3.9|.	5.19|5.19	5.19|5.19	0.71726|0.71726	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86414|0.86414	0.5927|0.5927	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90409|0.90409	0.4408|0.4408	10|5	0.87932|.	D|.	0|.	-17.7383|-17.7383	15.3599|15.3599	0.74464|0.74464	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	245|.	Q86XE3|.	EFHA2_HUMAN|.	V|S	245|103	ENSP00000321455:D245V|.	ENSP00000321455:D245V|.	D|T	+|+	2|1	0|0	EFHA2|EFHA2	16987155|16987155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.936000|8.936000	0.92931|0.92931	2.088000|2.088000	0.63022|0.63022	0.482000|0.482000	0.46254|0.46254	GAC|ACA		PASS	0.318	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		91	80	91	80	---	---	---	---
TNFRSF10D	8793	broad.mit.edu	37	8	23002047	23002047	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:23002047G>A	ENST00000312584.3	-	7	964	c.870C>T	c.(868-870)gtC>gtT	p.V290V		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	290					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.V290V(2)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGCTCAGAGACCTGGGTGG	0.577																																						uc003xcz.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(868-870)GTC>GTT		tumor necrosis factor receptor superfamily,							98.0	91.0	93.0					8																	23002047		2203	4300	6503	SO:0001819	synonymous_variant	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:23002047G>A	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.870C>T	8.37:g.23002047G>A							p.V290V	NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	7	962	-		Prostate(55;0.0421)|Breast(100;0.067)	290			Cytoplasmic (Potential).		B2R8W0|Q9Y6Q4	Silent	SNP	ENST00000312584.3	37	c.870C>T	CCDS6038.1																																																																																				PASS	0.577	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			60	54	60	54	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25745433	25745433	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:25745433G>A	ENST00000520164.1	-	9	1344	c.807C>T	c.(805-807)gcC>gcT	p.A269A	EBF2_ENST00000535548.1_5'Flank|EBF2_ENST00000408929.3_Silent_p.A121A	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	269	IPT/TIG.				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.A269A(2)		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)		TGATGACCATGGCTCCTCCTG	0.498																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(805-807)GCC>GCT		early B-cell factor 2							120.0	116.0	117.0					8																	25745433		2018	4209	6227	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25745433G>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.807C>T	8.37:g.25745433G>A						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.A269A	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)	9	824	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	269			IPT/TIG.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.807C>T	CCDS43726.1																																																																																				PASS	0.498	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		30	90	30	90	---	---	---	---
C8orf22	492307	broad.mit.edu	37	8	49986841	49986841	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:49986841A>T	ENST00000303202.8	+	4	355	c.182A>T	c.(181-183)cAt>cTt	p.H61L	C8orf22_ENST00000517663.1_Missense_Mutation_p.H61L|C8orf22_ENST00000399653.4_Missense_Mutation_p.H61L|C8orf22_ENST00000522267.1_Missense_Mutation_p.H61L	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)			p.H61L(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TCGTTTTTCCATTCTGAACCT	0.368																																						uc003xqq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CAT>CTT		hypothetical protein LOC492307							91.0	84.0	86.0					8																	49986841		1843	4089	5932	SO:0001583	missense	492307							g.chr8:49986841A>T	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.182A>T	8.37:g.49986841A>T	ENSP00000304926:p.His61Leu						p.H61L	NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN			4	365	+		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	61					G3V137|Q8WVI1	Missense_Mutation	SNP	ENST00000303202.8	37	c.182A>T	CCDS59101.1	.	.	.	.	.	.	.	.	.	.	A	6.765	0.510058	0.12883	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.22	3.05	0.35203	.	0.000000	0.48286	U	0.000181	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.32829	0.386	B	0.28139	0.086	T	0.12192	-1.0557	7	.	.	.	-10.6559	6.249	0.20835	0.8814:0.0:0.1186:0.0	.	61	Q8WWR9-2	.	L	61	.	.	H	+	2	0	C8orf22	50149394	0.418000	0.25440	0.025000	0.17156	0.149000	0.21700	1.055000	0.30467	0.500000	0.27991	0.460000	0.39030	CAT		PASS	0.368	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176		29	69	29	69	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53568566	53568566	+	Splice_Site	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:53568566A>T	ENST00000025008.5	-	15	4345		c.e15+1		RB1CC1_ENST00000435644.2_Splice_Site|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Splice_Site	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1						autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.?(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTAATTCTTACCTTTTTGCT	0.284																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Unknown(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.e15+1		Rb1-inducible coiled coil protein 1 isoform 1							38.0	38.0	38.0					8																	53568566		2197	4289	6486	SO:0001630	splice_region_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53568566A>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3821+1T>A	8.37:g.53568566A>T						RB1CC1_uc003xrf.3_Splice_Site_p.S1274_splice	p.S1274_splice	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			15	4379	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)						Q86YR4|Q8WVU9|Q92601	Splice_Site	SNP	ENST00000025008.5	37	c.3821_splice	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931301	0.73442	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2521	0.73556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RB1CC1	53731119	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.986000	0.49370	2.067000	0.61834	0.528000	0.53228	.		PASS	0.284	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	Intron	30	29	30	29	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69728119	69728119	+	Splice_Site	SNP	A	A	G	rs368828109		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:69728119A>G	ENST00000539993.1	+	13	1840		c.e13-1		C8orf34_ENST00000337103.4_Splice_Site|C8orf34_ENST00000518698.1_Splice_Site			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34									p.?(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTTGTTGTGCAGGTTCCGCTG	0.423																																						uc010lyz.2																			2	Unknown(2)		lung(2)	large_intestine(1)	1						c.e13-2		hypothetical protein LOC116328		A		0,4404		0,0,2202	367.0	316.0	333.0			4.3	1.0	8		333	2,8598	2.2+/-6.3	0,2,4298	no	splice-3	C8orf34	NM_052958.2		0,2,6500	GG,GA,AA		0.0233,0.0,0.0154			69728119	2,13002	2202	4300	6502	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69728119A>G	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1292-1A>G	8.37:g.69728119A>G						C8orf34_uc003xyb.2_Splice_Site_p.R406_splice	p.R431_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		13	1341	+								A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Splice_Site	SNP	ENST00000539993.1	37	c.1292_splice		.	.	.	.	.	.	.	.	.	.	A	13.47	2.246150	0.39697	0.0	2.33E-4	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1967	0.43058	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C8orf34	69890673	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	3.502000	0.53332	2.178000	0.69098	0.529000	0.55759	.		PASS	0.423	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Intron	39	180	39	180	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616927	77616927	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:77616927G>T	ENST00000521891.2	+	2	1052	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G202W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G202W|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G202W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G202W(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCATCCCTCGGGAAACCATT	0.488										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(604-606)GGG>TGG		zinc finger homeodomain 4							86.0	79.0	81.0					8																	77616927		1975	4168	6143	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616927G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.604G>T	8.37:g.77616927G>T	ENSP00000430497:p.Gly202Trp	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G202W|ZFHX4_uc003yau.1_Missense_Mutation_p.G202W|ZFHX4_uc003yaw.1_Missense_Mutation_p.G202W	p.G202W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	991	+			202					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.604G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360528	0.41801	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.55;0.59;0.56;0.55	5.42	5.42	0.78866	.	0.000000	0.45361	U	0.000372	T	0.71126	0.3303	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.72297	-0.4335	10	0.87932	D	0	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	202;202;202;202	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	W	202	ENSP00000430497:G202W;ENSP00000399605:G202W;ENSP00000050961:G202W;ENSP00000430848:G202W	ENSP00000050961:G202W	G	+	1	0	ZFHX4	77779482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.821000	0.97095	0.650000	0.86243	GGG		PASS	0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		19	32	19	32	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	88365891	88365891	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:88365891G>A	ENST00000518476.1	+	10	1231	c.1180G>A	c.(1180-1182)Ggg>Agg	p.G394R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	394								p.G394R(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGTTTATATGGGGAAACTTAA	0.323																																						uc003ydy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1180-1182)GGG>AGG		cyclic nucleotide binding domain containing 1							78.0	76.0	76.0					8																	88365891		1811	4072	5883	SO:0001583	missense	168975							g.chr8:88365891G>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1180G>A	8.37:g.88365891G>A	ENSP00000430073:p.Gly394Arg						p.G394R	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			10	1228	+			394			cNMP.			Missense_Mutation	SNP	ENST00000518476.1	37	c.1180G>A	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.800524|2.800524	0.50315|0.50315	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	D|.	0.92647|.	-3.08|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|.	0.49305|.	D|.	0.000160|.	T|.	0.67627|.	0.2913|.	M|M	0.68952|0.68952	2.095|2.095	0.36177|0.36177	D|D	0.849143|0.849143	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.74041|.	-0.3792|.	10|.	0.49607|.	T|.	0.09|.	-18.3816|-18.3816	13.8061|13.8061	0.63233|0.63233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	394|.	Q8NA66|.	CNBD1_HUMAN|.	R|X	394|85;30	ENSP00000430073:G394R|.	ENSP00000430073:G394R|.	G|W	+|+	1|3	0|0	CNBD1|CNBD1	88435007|88435007	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.222000|0.222000	0.24845|0.24845	4.873000|4.873000	0.63057|0.63057	2.319000|2.319000	0.78375|0.78375	0.555000|0.555000	0.69702|0.69702	GGG|TGG		PASS	0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		35	69	35	69	---	---	---	---
PDP1	54704	broad.mit.edu	37	8	94935592	94935592	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:94935592G>T	ENST00000297598.4	+	2	1574	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D	PDP1_ENST00000396200.3_Missense_Mutation_p.E460D|PDP1_ENST00000517764.1_Missense_Mutation_p.E435D|PDP1_ENST00000520728.1_Missense_Mutation_p.E435D	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	435					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E435D(1)|p.E460D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTGTGGGTGAGTACCTAACTG	0.483																																						uc003yge.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(1303-1305)GAG>GAT		pyruvate dehyrogenase phosphatase catalytic							81.0	79.0	80.0					8																	94935592		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935592G>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1305G>T	8.37:g.94935592G>T	ENSP00000297598:p.Glu435Asp					PDP1_uc003ygf.2_Missense_Mutation_p.E460D|PDP1_uc010max.2_Missense_Mutation_p.E460D|PDP1_uc011lgm.1_Missense_Mutation_p.E435D|PDP1_uc011lgn.1_Missense_Mutation_p.E494D	p.E435D	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN			2	1574	+			435					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.1305G>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725132	0.30593	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	6.03	4.22	0.49857	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.31804	0.96	0.58432	D	0.999999	P;B	0.35575	0.51;0.196	B;B	0.37692	0.256;0.137	T	0.04360	-1.0957	10	0.35671	T	0.21	-19.6677	13.0211	0.58787	0.1315:0.0:0.8685:0.0	.	486;435	B4DYX8;Q9P0J1	.;PDP1_HUMAN	D	435;435;460;435	ENSP00000297598:E435D;ENSP00000428317:E435D;ENSP00000379503:E460D;ENSP00000430380:E435D	ENSP00000297598:E435D	E	+	3	2	PDP1	95004768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.395000	0.52558	0.855000	0.35359	0.655000	0.94253	GAG		PASS	0.483	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		43	68	43	68	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110980823	110980823	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:110980823G>T	ENST00000524391.1	-	4	2029	c.997C>A	c.(997-999)Cgc>Agc	p.R333S	KCNV1_ENST00000297404.1_Missense_Mutation_p.R333S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	333					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.R333S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCAAGGGAGCGTAATCCTGCA	0.488																																						uc003ynr.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(997-999)CGC>AGC		potassium channel, subfamily V, member 1							68.0	54.0	59.0					8																	110980823		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980823G>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.997C>A	8.37:g.110980823G>T	ENSP00000435954:p.Arg333Ser					KCNV1_uc010mcw.2_Missense_Mutation_p.R333S	p.R333S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1339	-	all_neural(195;0.219)		333			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.997C>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104323	0.56291	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97791	-4.54;-4.54	5.62	4.71	0.59529	Ion transport (1);	0.067651	0.64402	D	0.000015	D	0.97238	0.9097	M	0.68593	2.085	0.37841	D	0.929057	P	0.47409	0.895	P	0.49477	0.612	D	0.98556	1.0639	10	0.87932	D	0	.	12.8497	0.57850	0.0:0.0:0.7087:0.2913	.	333	Q6PIU1	KCNV1_HUMAN	S	333;333;209	ENSP00000435954:R333S;ENSP00000297404:R333S	ENSP00000297404:R333S	R	-	1	0	KCNV1	111049999	0.990000	0.36364	0.997000	0.53966	0.749000	0.42624	2.186000	0.42593	2.628000	0.89032	0.655000	0.94253	CGC		PASS	0.488	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		43	62	43	62	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139767743	139767743	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:139767743C>A	ENST00000303045.6	-	20	2405	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D	COL22A1_ENST00000435777.1_Missense_Mutation_p.E653D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	653	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E653D(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTCAAGCCCTCTTGCTGCA	0.502										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1957-1959)GAG>GAT		collagen, type XXII, alpha 1							310.0	269.0	283.0					8																	139767743		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139767743C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1959G>T	8.37:g.139767743C>A	ENSP00000303153:p.Glu653Asp	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Translation_Start_Site	p.E653D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		20	2406	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		653			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1959G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734656	0.15574	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93307	-3.2;-3.2	5.3	1.51	0.23008	.	0.161017	0.28748	U	0.014279	T	0.82102	0.4964	N	0.11724	0.165	0.28178	N	0.92827	B	0.29766	0.256	B	0.28139	0.086	T	0.70605	-0.4826	10	0.13470	T	0.59	.	7.4131	0.27029	0.0:0.6491:0.0:0.3509	.	653	Q8NFW1	COMA1_HUMAN	D	653;653;366	ENSP00000303153:E653D;ENSP00000387655:E653D	ENSP00000303153:E653D	E	-	3	2	COL22A1	139836925	0.798000	0.28890	0.998000	0.56505	0.601000	0.36947	-0.461000	0.06712	0.096000	0.17463	-0.218000	0.12543	GAG		PASS	0.502	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		124	231	124	231	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140631212	140631212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:140631212G>C	ENST00000520439.1	-	2	477	c.414C>G	c.(412-414)taC>taG	p.Y138*	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Nonsense_Mutation_p.Y138*	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	138					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.Y138*(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GCTTCAGCAGGTAGCGCACGA	0.582																																						uc003yvf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(412-414)TAC>TAG		potassium channel, subfamily K, member 9							115.0	90.0	99.0					8																	140631212		2203	4300	6503	SO:0001587	stop_gained	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631212G>C	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.414C>G	8.37:g.140631212G>C	ENSP00000430676:p.Tyr138*					KCNK9_uc003yvg.1_Nonsense_Mutation_p.Y138*|KCNK9_uc003yve.1_RNA	p.Y138*	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	478	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	138			Cytoplasmic (Potential).		Q2M290|Q540F2	Nonsense_Mutation	SNP	ENST00000520439.1	37	c.414C>G	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205853	0.95033	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	.	.	.	5.85	5.85	0.93711	.	0.209218	0.42821	D	0.000654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1531	0.93496	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000302166:Y138X	Y	-	3	2	KCNK9	140700394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.632000	0.98428	2.753000	0.94483	0.655000	0.94253	TAC		PASS	0.582	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		17	23	17	23	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145755869	145755869	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:145755869C>G	ENST00000276826.5	-	10	3390	c.3189G>C	c.(3187-3189)gaG>gaC	p.E1063D	C8orf82_ENST00000313465.5_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E1063D|C8orf82_ENST00000524821.1_5'Flank|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E1094D			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1063	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E1094D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGAAGGACATCTCCTTGCGGG	0.647																																						uc003zdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3187-3189)GAG>GAC		KIAA1688 protein							40.0	34.0	36.0					8																	145755869		2193	4296	6489	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145755869C>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.3189G>C	8.37:g.145755869C>G	ENSP00000276826:p.Glu1063Asp					LRRC24_uc003zdn.2_5'Flank|MGC70857_uc003zdp.1_5'Flank|MGC70857_uc003zdq.1_5'Flank|MGC70857_uc003zdr.1_5'Flank|ARHGAP39_uc011llk.1_Missense_Mutation_p.E1063D|ARHGAP39_uc003zds.1_Missense_Mutation_p.E1094D	p.E1063D	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			12	3744	-			1063			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.3189G>C		.	.	.	.	.	.	.	.	.	.	C	18.72	3.683801	0.68157	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.59906	0.23;0.23;0.23	4.89	2.7	0.31948	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.86651	2.83	0.47009	D	0.999284	B;B	0.31383	0.321;0.252	B;B	0.34722	0.133;0.188	T	0.59484	-0.7446	10	0.30854	T	0.27	-36.8856	9.8728	0.41185	0.0:0.7939:0.0:0.2061	.	1063;1094	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	D	1063;1094;1063	ENSP00000276826:E1063D;ENSP00000366522:E1094D;ENSP00000445075:E1063D	ENSP00000276826:E1063D	E	-	3	2	ARHGAP39	145726677	0.893000	0.30496	1.000000	0.80357	0.997000	0.91878	0.033000	0.13754	1.044000	0.40200	0.561000	0.74099	GAG		PASS	0.647	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			19	23	19	23	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7013902	7013902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:7013902G>T	ENST00000381309.3	+	14	2648	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*	KDM4C_ENST00000381306.3_Nonsense_Mutation_p.E695*|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.E717*|KDM4C_ENST00000428870.2_Nonsense_Mutation_p.E382*|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.E695*|KDM4C_ENST00000536108.1_Nonsense_Mutation_p.E514*|KDM4C_ENST00000442236.2_Nonsense_Mutation_p.E440*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	695					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.E695*(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TATTTATAGTGAAGAAAATAT	0.408																																						uc003zkh.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2083-2085)GAA>TAA		jumonji domain containing 2C isoform 1							119.0	119.0	119.0					9																	7013902		2203	4300	6503	SO:0001587	stop_gained	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7013902G>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2083G>T	9.37:g.7013902G>T	ENSP00000370710:p.Glu695*					KDM4C_uc010mhu.2_Nonsense_Mutation_p.E717*|KDM4C_uc011lmi.1_Nonsense_Mutation_p.E695*|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Nonsense_Mutation_p.E695*|KDM4C_uc011lmk.1_Nonsense_Mutation_p.E440*|KDM4C_uc011lml.1_Nonsense_Mutation_p.E382*	p.E695*	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			14	2663	+			695			PHD-type 1.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Nonsense_Mutation	SNP	ENST00000381309.3	37	c.2083G>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	45	11.673197	0.99589	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870;ENST00000420847	.	.	.	5.31	3.45	0.39498	.	0.049481	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	8.917	0.35587	0.2255:0.0:0.7745:0.0	.	.	.	.	X	717;695;695;695;440;514;382;39	.	ENSP00000370707:E695X	E	+	1	0	KDM4C	7003902	1.000000	0.71417	0.847000	0.33407	0.995000	0.86356	6.128000	0.71650	1.366000	0.46076	0.585000	0.79938	GAA		PASS	0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		53	24	53	24	---	---	---	---
CER1	9350	broad.mit.edu	37	9	14722619	14722619	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:14722619T>A	ENST00000380911.3	-	1	96	c.52A>T	c.(52-54)Aca>Tca	p.T18S		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	18					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.T18S(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGGTGCCGTGTGGTCTTTCCT	0.527																																						uc003zlj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(52-54)ACA>TCA		cerberus 1 precursor							79.0	80.0	80.0					9																	14722619		2203	4300	6503	SO:0001583	missense	9350				BMP signaling pathway	extracellular space	cytokine activity	g.chr9:14722619T>A	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.52A>T	9.37:g.14722619T>A	ENSP00000370297:p.Thr18Ser						p.T18S	NM_005454	NP_005445	O95813	CER1_HUMAN		GBM - Glioblastoma multiforme(50;3.16e-06)	1	97	-			18					Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	c.52A>T	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	T	2.294	-0.361681	0.05103	.	.	ENSG00000147869	ENST00000380911	T	0.16597	2.33	5.92	-1.88	0.07713	.	1.091930	0.06941	N	0.812866	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.18710	T	0.47	0.0061	6.2191	0.20671	0.1157:0.4623:0.0:0.422	.	18	O95813	CER1_HUMAN	S	18	ENSP00000370297:T18S	ENSP00000370297:T18S	T	-	1	0	CER1	14712619	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.228000	0.17814	-0.081000	0.12662	-0.242000	0.12053	ACA		PASS	0.527	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454		50	29	50	29	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33927889	33927889	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:33927889G>C	ENST00000418786.2	-	17	2143	c.2051C>G	c.(2050-2052)cCa>cGa	p.P684R	UBAP2_ENST00000360802.1_Silent_p.S759S|UBAP2_ENST00000379239.4_Silent_p.S492S|UBAP2_ENST00000379235.1_5'UTR|UBAP2_ENST00000449054.1_Silent_p.S759S|UBAP2_ENST00000539807.1_Silent_p.S514S|UBAP2_ENST00000379238.1_Silent_p.S759S					ubiquitin associated protein 2									p.S759S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCATGCTACTGGACAGGCTGG	0.632																																						uc003ztq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2275-2277)TCC>TCG		ubiquitin associated protein 2							91.0	87.0	88.0					9																	33927889		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33927889G>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000418786.2:c.2051C>G	9.37:g.33927889G>C	ENSP00000404436:p.Pro684Arg					UBAP2_uc011loc.1_Silent_p.S668S|UBAP2_uc011lod.1_Silent_p.S492S|UBAP2_uc011loe.1_Silent_p.S514S|UBAP2_uc011lof.1_Silent_p.S684S|UBAP2_uc011log.1_Missense_Mutation_p.P683R|UBAP2_uc003ztn.1_5'UTR|UBAP2_uc003zto.1_5'UTR|UBAP2_uc003ztp.1_5'UTR	p.S759S	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	20	2390	-			759						Silent	SNP	ENST00000418786.2	37	c.2277C>G		.	.	.	.	.	.	.	.	.	.	G	11.45	1.641713	0.29157	.	.	ENSG00000137073	ENST00000418786	T	0.18174	2.23	5.77	-5.2	0.02823	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35450	-0.9788	8	0.87932	D	0	-8.6557	0.969	0.01412	0.2126:0.2031:0.1613:0.423	.	684	E7EWG4	.	R	684	ENSP00000404436:P684R	ENSP00000404436:P684R	P	-	2	0	UBAP2	33917889	0.907000	0.30839	0.007000	0.13788	0.002000	0.02628	-0.346000	0.07760	-1.526000	0.01760	-0.961000	0.02630	CCA		PASS	0.632	UBAP2-203	KNOWN	basic	protein_coding	protein_coding		NM_018449		48	34	48	34	---	---	---	---
GKAP1	80318	broad.mit.edu	37	9	86421392	86421392	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:86421392G>A	ENST00000376371.2	-	3	441	c.41C>T	c.(40-42)tCt>tTt	p.S14F	GKAP1_ENST00000376365.3_Missense_Mutation_p.S14F	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	14					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)		p.S14F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						GGCAAAACGAGAAGCGGTGGT	0.428																																						uc004amy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)TCT>TTT		G kinase anchoring protein 1 isoform a							66.0	67.0	67.0					9																	86421392		2203	4300	6503	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86421392G>A	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.41C>T	9.37:g.86421392G>A	ENSP00000365550:p.Ser14Phe					GKAP1_uc004amz.2_Missense_Mutation_p.S14F|GKAP1_uc011lsu.1_RNA	p.S14F	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN			3	537	-			14					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.41C>T	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888281	0.91814	.	.	ENSG00000165113	ENST00000376371;ENST00000376365;ENST00000485742	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84994	0.0896	9	0.87932	D	0	-24.2193	18.5712	0.91136	0.0:0.0:1.0:0.0	.	14;14	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	F	14	.	ENSP00000365544:S14F	S	-	2	0	GKAP1	85611212	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.486000	0.90451	2.492000	0.84095	0.555000	0.69702	TCT		PASS	0.428	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		27	11	27	11	---	---	---	---
IARS	3376	broad.mit.edu	37	9	95048047	95048047	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:95048047C>A	ENST00000375643.3	-	6	820	c.554G>T	c.(553-555)tGt>tTt	p.C185F	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.C185F|IARS_ENST00000447699.2_Missense_Mutation_p.C75F	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	185					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.C185F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TGGAGTGTTACATGCCGTAGA	0.408																																						uc004art.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(553-555)TGT>TTT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						154.0	125.0	135.0					9																	95048047		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95048047C>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.554G>T	9.37:g.95048047C>A	ENSP00000364794:p.Cys185Phe					IARS_uc004ars.1_Missense_Mutation_p.C30F|IARS_uc004aru.3_Missense_Mutation_p.C185F|IARS_uc010mqr.2_Missense_Mutation_p.C75F|IARS_uc010mqt.2_Intron	p.C185F	NM_013417	NP_038203	P41252	SYIC_HUMAN			6	811	-			185					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.554G>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419320	0.83559	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.51	5.51	0.81932	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.83622	0.0140	10	0.72032	D	0.01	-14.5526	19.0116	0.92875	0.0:1.0:0.0:0.0	.	185;30	P41252;Q6P0M4	SYIC_HUMAN;.	F	185;185;75;185;185	ENSP00000364794:C185F;ENSP00000406448:C185F;ENSP00000415020:C75F;ENSP00000378922:C185F	ENSP00000364794:C185F	C	-	2	0	IARS	94087868	1.000000	0.71417	0.819000	0.32651	0.879000	0.50718	7.563000	0.82314	2.604000	0.88044	0.555000	0.69702	TGT		PASS	0.408	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		3	82	3	82	---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97063103	97063103	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:97063103G>T	ENST00000395395.2	+	5	1353	c.1263G>T	c.(1261-1263)caG>caT	p.Q421H	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	421					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.Q421H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TCAGGCACCAGAGGACACACA	0.567																																						uc004aum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1261-1263)CAG>CAT		zinc finger protein 169							75.0	67.0	70.0					9																	97063103		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063103G>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1263G>T	9.37:g.97063103G>T	ENSP00000378792:p.Gln421His						p.Q421H	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	1368	+		Acute lymphoblastic leukemia(62;0.136)	421			C2H2-type 7.		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.1263G>T	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946976	0.53186	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.18502	2.21	2.7	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27419	0.0673	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.02378	-1.1168	9	0.66056	D	0.02	.	7.0219	0.24918	0.0:0.0:0.7292:0.2707	.	421	Q14929	ZN169_HUMAN	H	421;230	ENSP00000378792:Q421H	ENSP00000340711:Q230H	Q	+	3	2	ZNF169	96102924	0.086000	0.21541	1.000000	0.80357	0.941000	0.58515	2.005000	0.40864	1.838000	0.53458	0.508000	0.49915	CAG		PASS	0.567	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		19	10	19	10	---	---	---	---
OR13C2	392376	broad.mit.edu	37	9	107367215	107367215	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:107367215C>T	ENST00000542196.1	-	1	736	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E232K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTTCTCCCCTCGGAAGAGCTA	0.413																																						uc011lvq.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(694-696)GAG>AAG		olfactory receptor, family 13, subfamily C,							98.0	94.0	96.0					9																	107367215		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367215C>T		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.694G>A	9.37:g.107367215C>T	ENSP00000438815:p.Glu232Lys						p.E232K	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	694	-			232			Cytoplasmic (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.694G>A	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	6.451	0.451329	0.12223	.	.	ENSG00000257019	ENST00000542196	T	0.00174	8.62	3.41	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36066	U	0.002817	T	0.00210	0.0006	L	0.60845	1.875	0.09310	N	1	B	0.26120	0.142	B	0.29942	0.109	T	0.27226	-1.0080	10	0.49607	T	0.09	.	8.3195	0.32121	0.0:0.8786:0.0:0.1214	.	232	Q8NGS9	O13C2_HUMAN	K	232	ENSP00000438815:E232K	ENSP00000438815:E232K	E	-	1	0	OR13C2	106407036	0.000000	0.05858	0.439000	0.26833	0.054000	0.15201	-0.178000	0.09782	0.639000	0.30564	0.313000	0.20887	GAG		PASS	0.413	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		66	22	66	22	---	---	---	---
MRRF	92399	broad.mit.edu	37	9	125033303	125033303	+	Missense_Mutation	SNP	A	A	G	rs149753530	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:125033303A>G	ENST00000344641.3	+	2	444	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	MRRF_ENST00000297908.3_Missense_Mutation_p.M45V|MRRF_ENST00000373723.5_Missense_Mutation_p.M45V|MRRF_ENST00000373730.3_Missense_Mutation_p.M45V|MRRF_ENST00000373729.1_Start_Codon_SNP_p.M1V|MRRF_ENST00000546115.1_Missense_Mutation_p.M45V|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000394315.3_Missense_Mutation_p.M45V	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	45					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)		p.M45V(1)		breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TAGGCAATACATGGCCTATTC	0.463													A|||	3	0.000599042	0.0023	0.0	5008	,	,		21111	0.0		0.0	False		,,,				2504	0.0					uc004bmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(133-135)ATG>GTG		mitochondrial ribosome recycling factor isoform		A	VAL/MET,VAL/MET,VAL/MET	17,4389	24.3+/-50.5	0,17,2186	199.0	178.0	185.0		133,133,133	-11.5	0.0	9	dbSNP_134	185	0,8600		0,0,4300	yes	missense,missense,missense	MRRF	NM_001173512.1,NM_138777.3,NM_199177.2	21,21,21	0,17,6486	GG,GA,AA		0.0,0.3858,0.1307	benign,benign,benign	45/211,45/263,45/202	125033303	17,12989	2203	4300	6503	SO:0001583	missense	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125033303A>G	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.133A>G	9.37:g.125033303A>G	ENSP00000343867:p.Met45Val					MRRF_uc004bmc.2_Missense_Mutation_p.M45V|MRRF_uc011lyq.1_Missense_Mutation_p.M66V|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Missense_Mutation_p.M45V|MRRF_uc011lyr.1_Missense_Mutation_p.M45V|MRRF_uc004bmd.2_Missense_Mutation_p.M45V|MRRF_uc004bme.2_RNA	p.M45V	NM_138777	NP_620132	Q96E11	RRFM_HUMAN			2	248	+			45					A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	ENST00000344641.3	37	c.133A>G	CCDS6840.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	0.003	-2.563216	0.00134	0.003858	0.0	ENSG00000148187	ENST00000297908;ENST00000373723;ENST00000373730;ENST00000546115;ENST00000344641;ENST00000441707;ENST00000373729;ENST00000373727;ENST00000373728;ENST00000373724;ENST00000394315	T;T;T;T;T;T;T;T;T;T	0.75260	0.11;-0.92;-0.89;-0.88;0.1;-0.86;1.09;-0.87;-0.87;-0.92	5.77	-11.5	0.00074	.	1.549630	0.03161	N	0.169371	T	0.38799	0.1054	N	0.01109	-1.01	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45264	-0.9273	10	0.41790	T	0.15	-0.6953	7.4636	0.27310	0.2613:0.097:0.5416:0.1001	.	45;45;45;45	Q96E11-8;Q96E11-5;Q96E11-2;Q96E11	.;.;.;RRFM_HUMAN	V	45;45;45;45;45;45;1;45;45;1;45	ENSP00000297908:M45V;ENSP00000362828:M45V;ENSP00000362835:M45V;ENSP00000445588:M45V;ENSP00000343867:M45V;ENSP00000395072:M45V;ENSP00000362834:M1V;ENSP00000362832:M45V;ENSP00000362833:M45V;ENSP00000377850:M45V	ENSP00000297908:M45V	M	+	1	0	MRRF	124073124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.862000	0.01653	-2.260000	0.00692	-1.122000	0.02009	ATG		PASS	0.463	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		111	34	111	34	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137710517	137710517	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr9:137710517G>A	ENST00000371817.3	+	55	4660	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1416	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.E1416K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCGGCTTGGAAGGCCCTCC	0.697																																						uc004cfe.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4246-4248)GAA>AAA		alpha 1 type V collagen preproprotein							9.0	11.0	11.0					9																	137710517		2180	4276	6456	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137710517G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4246G>A	9.37:g.137710517G>A	ENSP00000360882:p.Glu1416Lys						p.E1416K	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	55	4628	+		Myeloproliferative disorder(178;0.0341)	1416			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4246G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207950	0.58343	.	.	ENSG00000130635	ENST00000371817	D	0.93547	-3.24	4.89	4.89	0.63831	.	0.000000	0.85682	U	0.000000	D	0.82300	0.5007	N	0.02736	-0.51	0.49130	D	0.999758	P	0.39250	0.665	B	0.33750	0.169	T	0.83263	-0.0047	10	0.15499	T	0.54	.	18.047	0.89335	0.0:0.0:1.0:0.0	.	1416	P20908	CO5A1_HUMAN	K	1416	ENSP00000360882:E1416K	ENSP00000360882:E1416K	E	+	1	0	COL5A1	136850338	1.000000	0.71417	0.990000	0.47175	0.862000	0.49288	7.768000	0.85345	2.258000	0.74832	0.448000	0.29417	GAA		PASS	0.697	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	3	9	3	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7326102	7326103	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:7326102_7326103CC>AA	ENST00000361972.4	-	6	625_626	c.535_536GG>TT	c.(535-537)GGg>TTg	p.G179L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.G179L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	179					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.G179L(1)|p.G179W(1)|p.G179V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGGGCCTTTCCCTCGCAGAGGC	0.361																																						uc009xio.1																			3	Substitution - Missense(3)		lung(3)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(535-537)GGG>GTG|c.(535-537)GGG>TGG		Scm-like with four mbt domains 2																																				SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7326102C>A|g.chr10:7326103C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.535_536delinsAA	10.37:g.7326102_7326103delinsAA	ENSP00000355109:p.Gly179Leu					SFMBT2_uc001ijn.1_Missense_Mutation_p.G179V|SFMBT2_uc010qay.1_Missense_Mutation_p.G179V|SFMBT2_uc001ijn.1_Missense_Mutation_p.G179W|SFMBT2_uc010qay.1_Missense_Mutation_p.G179W	p.G179V|p.G179W	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			6	627|626	-			179			MBT 2.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.536G>T|c.535G>T	CCDS31138.1																																																																																				PASS	0.361	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		33|34	25	33	25	---	---	---	---
OPTN	10133	broad.mit.edu	37	10	13168002	13168002	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:13168002A>C	ENST00000378748.3	+	12	1567	c.1205A>C	c.(1204-1206)aAt>aCt	p.N402T	OPTN_ENST00000378764.2_Missense_Mutation_p.N396T|OPTN_ENST00000378752.3_Missense_Mutation_p.N396T|OPTN_ENST00000378757.2_Missense_Mutation_p.N402T|OPTN_ENST00000263036.5_Missense_Mutation_p.N402T|OPTN_ENST00000378747.3_Missense_Mutation_p.N402T	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	402					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.N402T(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAACATAATAATGCATTGAAA	0.313																																						uc001ilu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1204-1206)AAT>ACT		optineurin							79.0	78.0	78.0					10																	13168002		2203	4299	6502	SO:0001583	missense	10133				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	g.chr10:13168002A>C	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1205A>C	10.37:g.13168002A>C	ENSP00000368022:p.Asn402Thr					OPTN_uc001ilv.1_Missense_Mutation_p.N402T|OPTN_uc001ilw.1_Missense_Mutation_p.N402T|OPTN_uc001ilx.1_Missense_Mutation_p.N402T|OPTN_uc001ily.1_Missense_Mutation_p.N396T|OPTN_uc010qbr.1_Missense_Mutation_p.N345T|OPTN_uc001ilz.1_Missense_Mutation_p.N396T	p.N402T	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN			12	1643	+			402			Potential.		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	c.1205A>C	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	A	2.325	-0.354750	0.05138	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.42	-0.0964	0.13637	.	0.680920	0.16128	N	0.228303	T	0.77491	0.4138	L	0.45137	1.4	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.23419	0.046;0.021	T	0.58864	-0.7561	10	0.17832	T	0.49	-2.413	4.4444	0.11589	0.627:0.0:0.2373:0.1357	.	396;402	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	T	402;396;402;396;402;402	ENSP00000263036:N402T;ENSP00000368040:N396T;ENSP00000368032:N402T;ENSP00000368027:N396T;ENSP00000368022:N402T;ENSP00000368021:N402T	ENSP00000263036:N402T	N	+	2	0	OPTN	13208008	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.800000	0.27042	0.082000	0.17018	0.528000	0.53228	AAT		PASS	0.313	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		20	42	20	42	---	---	---	---
SUV39H2	79723	broad.mit.edu	37	10	14939359	14939359	+	Nonsense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:14939359C>G	ENST00000354919.6	+	3	692	c.692C>G	c.(691-693)tCa>tGa	p.S231*	SUV39H2_ENST00000313519.5_Nonsense_Mutation_p.S171*|SUV39H2_ENST00000378325.3_Intron|DCLRE1C_ENST00000378289.4_3'UTR	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	231	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S171*(1)|p.S231*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GAATGCAACTCAAGGTGTCAG	0.418																																						uc001inh.2																			2	Substitution - Nonsense(2)		lung(2)	breast(2)|ovary(1)	3						c.(511-513)TCA>TGA		suppressor of variegation 3-9 homolog 2							122.0	113.0	116.0					10																	14939359		2203	4300	6503	SO:0001587	stop_gained	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939359C>G	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.692C>G	10.37:g.14939359C>G	ENSP00000346997:p.Ser231*					SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Nonsense_Mutation_p.S171*|SUV39H2_uc001inj.2_Nonsense_Mutation_p.S171*	p.S171*	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN			2	568	+			231			Pre-SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Nonsense_Mutation	SNP	ENST00000354919.6	37	c.512C>G	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891424	0.52014	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.5509	0.95319	0.0:1.0:0.0:0.0	.	.	.	.	X	231;171;171	.	ENSP00000319208:S171X	S	+	2	0	SUV39H2	14979365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.836000	0.62789	2.937000	0.99478	0.650000	0.86243	TCA		PASS	0.418	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		34	98	34	98	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17432598	17432598	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:17432598C>A	ENST00000377602.4	-	3	296	c.222G>T	c.(220-222)tcG>tcT	p.S74S	ST8SIA6-AS1_ENST00000457649.2_RNA|ST8SIA6-AS1_ENST00000451225.2_RNA|ST8SIA6-AS1_ENST00000377597.2_RNA	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	74					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.S74S(2)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCAGTTGGAGCGACTTCTCAT	0.308																																						uc001ipd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(220-222)TCG>TCT		ST8 alpha-N-acetyl-neuraminide							162.0	152.0	155.0					10																	17432598		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17432598C>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.222G>T	10.37:g.17432598C>A						ST8SIA6_uc010qce.1_RNA|uc001ipe.2_Intron|uc001ipf.1_Intron	p.S74S	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			3	222	-			74			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.222G>T	CCDS31158.1																																																																																				PASS	0.308	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		55	43	55	43	---	---	---	---
STAM	8027	broad.mit.edu	37	10	17737147	17737147	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:17737147G>T	ENST00000377524.3	+	7	850	c.635G>T	c.(634-636)gGc>gTc	p.G212V	STAM_ENST00000540523.1_Missense_Mutation_p.G101V|RP11-390B4.3_ENST00000445235.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	212	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		G -> D (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.G212V(1)|p.G212D(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CAACATGAAGGCCGAAAAGTT	0.408																																						uc001ipj.1																			2	Substitution - Missense(2)	p.G212D(1)	large_intestine(1)|lung(1)	large_intestine(1)|ovary(1)	2						c.(634-636)GGC>GTC		signal transducing adaptor molecule 1							127.0	114.0	119.0					10																	17737147		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17737147G>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.635G>T	10.37:g.17737147G>T	ENSP00000366746:p.Gly212Val					STAM_uc010qcf.1_Missense_Mutation_p.G101V|STAM_uc009xjw.1_5'UTR	p.G212V	NM_003473	NP_003464	Q92783	STAM1_HUMAN			7	851	+			212		G -> D (in a colorectal cancer sample; somatic mutation).	SH3.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.635G>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590899	0.66219	.	.	ENSG00000136738	ENST00000377524;ENST00000377500;ENST00000540523	T;T	0.13089	2.62;2.62	5.88	5.88	0.94601	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00787	-1.1566	10	0.22109	T	0.4	-16.534	20.2187	0.98312	0.0:0.0:1.0:0.0	.	212	Q92783	STAM1_HUMAN	V	212;115;101	ENSP00000366746:G212V;ENSP00000438073:G101V	ENSP00000366721:G115V	G	+	2	0	STAM	17777153	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GGC		PASS	0.408	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		36	70	36	70	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24908835	24908835	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:24908835C>A	ENST00000396432.2	-	9	2475	c.1989G>T	c.(1987-1989)caG>caT	p.Q663H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q450H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	662					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.Q662H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCCATGTCTGCTGATTCAACA	0.483																																						uc001isb.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)	8						c.(1987-1989)CAG>CAT		Rho GTPase activating protein 21							79.0	74.0	76.0					10																	24908835		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24908835C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1989G>T	10.37:g.24908835C>A	ENSP00000379709:p.Gln663His					ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.Q663H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.Q498H|ARHGAP21_uc001isc.1_Missense_Mutation_p.Q653H	p.Q663H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			9	2476	-			662					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.1989G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172626	0.21704	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.48836	2.75;2.85;0.8;0.81	5.36	5.36	0.76844	.	0.657120	0.15999	N	0.234393	T	0.55832	0.1945	M	0.68317	2.08	0.33022	D	0.52903	D;D	0.67145	0.996;0.988	P;P	0.60682	0.878;0.758	T	0.59674	-0.7410	10	0.15499	T	0.54	.	5.8043	0.18432	0.1891:0.6944:0.0:0.1165	.	653;662	F8W9U9;Q5T5U3	.;RHG21_HUMAN	H	663;450;653;663;498	ENSP00000379709:Q663H;ENSP00000365604:Q450H;ENSP00000365592:Q653H;ENSP00000405018:Q663H	ENSP00000365604:Q450H	Q	-	3	2	ARHGAP21	24948841	1.000000	0.71417	0.992000	0.48379	0.116000	0.19942	0.534000	0.23098	2.656000	0.90262	0.655000	0.94253	CAG		PASS	0.483	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		34	24	34	24	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28233794	28233794	+	Missense_Mutation	SNP	C	C	A	rs138924660		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:28233794C>A	ENST00000305242.5	-	11	1576	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V	ARMC4_ENST00000545014.1_Missense_Mutation_p.G20V|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.G187V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	495					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.G495V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACTTCCAGGCCTCCAACATC	0.478																																						uc009xky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1483-1485)GGC>GTC		armadillo repeat containing 4							117.0	109.0	112.0					10																	28233794		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28233794C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1484G>T	10.37:g.28233794C>A	ENSP00000306410:p.Gly495Val					ARMC4_uc010qds.1_Missense_Mutation_p.G20V|ARMC4_uc010qdt.1_Missense_Mutation_p.G187V|ARMC4_uc001itz.2_Missense_Mutation_p.G495V|ARMC4_uc010qdu.1_Missense_Mutation_p.G187V	p.G495V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			11	1582	-			495			ARM 1.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1484G>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156687	0.94686	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014;ENST00000537573	T;T;T	0.46819	0.86;0.86;0.86	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.045735	0.85682	D	0.000000	T	0.72930	0.3522	M	0.84683	2.71	0.80722	D	1	P;D	0.71674	0.894;0.998	P;D	0.67231	0.694;0.95	T	0.73480	-0.3969	10	0.49607	T	0.09	-14.4597	20.3668	0.98882	0.0:1.0:0.0:0.0	.	20;495	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	V	187;495;20;187	ENSP00000443208:G187V;ENSP00000306410:G495V;ENSP00000441076:G20V	ENSP00000306410:G495V	G	-	2	0	ARMC4	28273800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.931000	0.70113	2.894000	0.99253	0.655000	0.94253	GGC		PASS	0.478	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		66	34	66	34	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582571	55582571	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:55582571T>C	ENST00000320301.6	-	33	5309	c.4915A>G	c.(4915-4917)Ata>Gta	p.I1639V	PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1570V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1616V|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1641V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1599V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1636V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1639					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.I1639V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTGCCTTATTTCCTCTTTC	0.398										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4915-4917)ATA>GTA		protocadherin 15 isoform CD1-4 precursor							183.0	181.0	182.0					10																	55582571		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582571T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4915A>G	10.37:g.55582571T>C	ENSP00000322604:p.Ile1639Val	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.I1636V|PCDH15_uc010qhw.1_Missense_Mutation_p.I1599V|PCDH15_uc010qhx.1_Missense_Mutation_p.I1570V|PCDH15_uc010qhy.1_Missense_Mutation_p.I1646V|PCDH15_uc010qhz.1_Missense_Mutation_p.I1641V|PCDH15_uc010qia.1_Missense_Mutation_p.I1619V|PCDH15_uc010qib.1_Missense_Mutation_p.I1616V	p.I1639V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5310	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1639			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4915A>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.485606	0.26686	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.55930	0.51;0.49;0.53;0.5;0.5;0.5	4.78	-1.99	0.07457	.	.	.	.	.	T	0.36880	0.0983	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.18310	0.022;0.027;0.027;0.027;0.015;0.027;0.017;0.027	B;B;B;B;B;B;B;B	0.18871	0.015;0.023;0.023;0.023;0.023;0.023;0.011;0.023	T	0.25537	-1.0129	9	0.39692	T	0.17	.	12.7088	0.57078	0.0:0.7853:0.0:0.2147	.	1616;1639;1641;1646;1570;1599;1636;1639	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	V	1599;1641;1616;1639;1636;1646;1570	ENSP00000378820:I1599V;ENSP00000354950:I1641V;ENSP00000378821:I1616V;ENSP00000322604:I1639V;ENSP00000378818:I1636V;ENSP00000412628:I1570V	ENSP00000322604:I1639V	I	-	1	0	PCDH15	55252577	0.988000	0.35896	0.010000	0.14722	0.292000	0.27327	1.875000	0.39578	-0.319000	0.08652	-0.250000	0.11733	ATA		PASS	0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		63	99	63	99	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75558775	75558775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:75558775G>T	ENST00000605216.1	+	21	4394	c.4177G>T	c.(4177-4179)Gag>Tag	p.E1393*	ZSWIM8_ENST00000603114.1_Nonsense_Mutation_p.E1360*|ZSWIM8_ENST00000398706.2_Nonsense_Mutation_p.E1398*|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Nonsense_Mutation_p.E1398*|ZSWIM8_ENST00000604524.1_Nonsense_Mutation_p.E1393*|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1393							zinc ion binding (GO:0008270)	p.E778*(1)|p.E1398*(1)|p.E1393*(1)									CCTGATGTTGGAGAAGGCCTG	0.532																																						uc009xrl.2																			3	Substitution - Nonsense(3)		lung(3)	breast(1)	1						c.(4177-4179)GAG>TAG		hypothetical protein LOC23053							71.0	76.0	74.0					10																	75558775		2032	4177	6209	SO:0001587	stop_gained	23053						zinc ion binding	g.chr10:75558775G>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4177G>T	10.37:g.75558775G>T	ENSP00000474748:p.Glu1393*					KIAA0913_uc001jve.2_Nonsense_Mutation_p.E1398*|KIAA0913_uc001jvf.2_Nonsense_Mutation_p.E1393*|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Nonsense_Mutation_p.E828*|KIAA0913_uc010qkr.1_Nonsense_Mutation_p.E816*|KIAA0913_uc001jvj.2_Nonsense_Mutation_p.E816*|KIAA0913_uc009xrn.1_5'Flank	p.E1393*	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			21	4209	+	Prostate(51;0.0112)		1393					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Nonsense_Mutation	SNP	ENST00000605216.1	37	c.4177G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	40|40|40	8.469561|8.469561|8.469561	0.98825|0.98825|0.98825	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366|ENST00000412198	.|.|.	.|.|.	.|.|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|.|.	0.000000|.|.	0.64402|.|.	U|.|.	0.000001|.|.	.|T|T	.|0.79557|0.79557	.|0.4466|0.4466	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.77843|0.77843	.|-0.2437|-0.2437	.|3|3	0.87932|.|.	D|.|.	0|.|.	-8.3409|-8.3409|-8.3409	19.5953|19.5953|19.5953	0.95535|0.95535|0.95535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	1398|1108|667	.|.|.	ENSP00000381693:E1398X|.|.	E|G|W	+|+|+	1|2|3	0|0|0	KIAA0913|KIAA0913|KIAA0913	75228781|75228781|75228781	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.366000|9.366000|9.366000	0.97143|0.97143|0.97143	2.643000|2.643000|2.643000	0.89663|0.89663|0.89663	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|TGG		PASS	0.532	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		3	38	3	38	---	---	---	---
CCSER2	54462	broad.mit.edu	37	10	86131058	86131058	+	Missense_Mutation	SNP	A	A	G	rs375204187		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:86131058A>G	ENST00000224756.8	+	2	435	c.250A>G	c.(250-252)Aat>Gat	p.N84D	CCSER2_ENST00000359979.4_Missense_Mutation_p.N84D|CCSER2_ENST00000372088.2_Missense_Mutation_p.N84D	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	84			N -> S (in dbSNP:rs3814205).		microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.N84D(1)									AGAGCCTAACAATACTCAAAA	0.338																																						uc001kdh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(250-252)AAT>GAT		granule cell antiserum positive 14		A	ASP/ASN	1,4405	2.1+/-5.4	0,1,2202	50.0	50.0	50.0		250	-2.7	0.0	10		50	0,8596		0,0,4298	no	missense	FAM190B	NM_018999.2	23	0,1,6500	GG,GA,AA		0.0,0.0227,0.0077	benign	84/835	86131058	1,13001	2203	4298	6501	SO:0001583	missense	54462							g.chr10:86131058A>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.250A>G	10.37:g.86131058A>G	ENSP00000224756:p.Asn84Asp					FAM190B_uc001kdg.1_Missense_Mutation_p.N84D|FAM190B_uc010qmd.1_Missense_Mutation_p.N84D	p.N84D	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			2	444	+			84					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.250A>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	0.792	-0.758435	0.03019	2.27E-4	0.0	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46819	0.86;2.2;2.2	5.6	-2.73	0.05950	.	1.497990	0.03607	N	0.234277	T	0.29321	0.0730	L	0.36672	1.1	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.07252	-1.0782	10	0.08837	T	0.75	-0.0082	1.3084	0.02092	0.4087:0.2306:0.2369:0.1238	.	84;84;84	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	D	84	ENSP00000353068:N84D;ENSP00000224756:N84D;ENSP00000361160:N84D	ENSP00000224756:N84D	N	+	1	0	FAM190B	86121038	0.000000	0.05858	0.000000	0.03702	0.357000	0.29423	-0.697000	0.05098	-0.130000	0.11599	0.533000	0.62120	AAT		PASS	0.338	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		39	13	39	13	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96066240	96066240	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:96066240A>T	ENST00000371380.3	+	25	5914	c.5679A>T	c.(5677-5679)gaA>gaT	p.E1893D	PLCE1_ENST00000371375.1_Missense_Mutation_p.E1585D|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1585D|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1893D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1893	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.E1893D(1)|p.E1585D(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGTGCATTGAAGTCGACGTCC	0.527																																						uc001kjk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(5677-5679)GAA>GAT		phospholipase C, epsilon 1 isoform 1							142.0	141.0	141.0					10																	96066240		2022	4179	6201	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96066240A>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5679A>T	10.37:g.96066240A>T	ENSP00000360431:p.Glu1893Asp					PLCE1_uc010qnx.1_Missense_Mutation_p.E1877D|PLCE1_uc001kjm.2_Missense_Mutation_p.E1585D|PLCE1_uc001kjp.2_Missense_Mutation_p.E251D	p.E1893D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			26	6313	+		Colorectal(252;0.0458)	1893			C2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.5679A>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886809	0.51908	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.43	-0.911	0.10507	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	M	0.79123	2.44	0.40160	D	0.977056	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.993;0.999	T	0.80286	-0.1446	10	0.87932	D	0	.	11.2674	0.49118	0.6322:0.0:0.3678:0.0	.	1877;1585;1893	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	1893;1893;1585;1585	ENSP00000260766:E1893D;ENSP00000360431:E1893D;ENSP00000360438:E1585D;ENSP00000360426:E1585D	ENSP00000260766:E1893D	E	+	3	2	PLCE1	96056230	0.997000	0.39634	0.404000	0.26397	0.163000	0.22366	0.609000	0.24238	-0.326000	0.08564	-0.250000	0.11733	GAA		PASS	0.527	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		97	45	97	45	---	---	---	---
FRAT2	23401	broad.mit.edu	37	10	99093814	99093814	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:99093814G>A	ENST00000371019.2	-	1	644	c.516C>T	c.(514-516)gaC>gaT	p.D172D	RP11-452K12.4_ENST00000445808.2_RNA	NM_012083.2	NP_036215.1	O75474	FRAT2_HUMAN	frequently rearranged in advanced T-cell lymphomas 2	172					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055)			p.D172D(1)		lung(1)	1		Colorectal(252;0.0846)		Epithelial(162;1.34e-09)|all cancers(201;8.42e-08)		GCGGGTCGTCGTCGCCGGCGC	0.721																																						uc001knd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(514-516)GAC>GAT		GSK-3 binding protein FRAT2							7.0	10.0	9.0					10																	99093814		2069	4117	6186	SO:0001819	synonymous_variant	23401				cell proliferation|multicellular organismal development|Wnt receptor signaling pathway			g.chr10:99093814G>A	AF062739	CCDS7456.1	10q23-q24.1	2008-08-01			ENSG00000181274	ENSG00000181274			16048	protein-coding gene	gene with protein product	"""GSK-3 binding protein FRAT2"""	605006				9635432, 11237732	Standard	NM_012083		Approved		uc001knd.1	O75474	OTTHUMG00000018850	ENST00000371019.2:c.516C>T	10.37:g.99093814G>A							p.D172D	NM_012083	NP_036215	O75474	FRAT2_HUMAN		Epithelial(162;1.34e-09)|all cancers(201;8.42e-08)	1	645	-		Colorectal(252;0.0846)	172					Q5JTI0|Q8WUL9|Q9BYG2	Silent	SNP	ENST00000371019.2	37	c.516C>T	CCDS7456.1																																																																																				PASS	0.721	FRAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049676.1	NM_012083		7	4	7	4	---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99677372	99677372	+	Nonsense_Mutation	SNP	G	G	C	rs183346718	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:99677372G>C	ENST00000370597.3	-	5	955	c.600C>G	c.(598-600)taC>taG	p.Y200*	CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.Y200*|CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.Y200*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	200						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.Y200*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCACATTACCGTAGGCGTAAT	0.592																																						uc001kou.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(598-600)TAC>TAG		cartilage acidic protein 1 precursor							73.0	57.0	63.0					10																	99677372		2203	4300	6503	SO:0001587	stop_gained	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99677372G>C	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.600C>G	10.37:g.99677372G>C	ENSP00000359629:p.Tyr200*					CRTAC1_uc001kov.2_Nonsense_Mutation_p.Y189*|CRTAC1_uc001kot.1_5'UTR	p.Y200*	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	5	956	-		Colorectal(252;0.24)	200					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Nonsense_Mutation	SNP	ENST00000370597.3	37	c.600C>G	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	37	6.497448	0.97616	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	.	.	.	5.28	-3.11	0.05299	.	0.163679	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0423	12.8035	0.57598	0.6983:0.0:0.3017:0.0	.	.	.	.	X	96;200;200;192;200	.	ENSP00000298819:Y200X	Y	-	3	2	CRTAC1	99667362	0.013000	0.17824	0.979000	0.43373	0.935000	0.57460	-0.927000	0.03984	-0.424000	0.07382	-0.444000	0.05651	TAC		PASS	0.592	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		30	10	30	10	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105362464	105362464	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:105362464T>G	ENST00000369774.4	-	15	2787	c.2511A>C	c.(2509-2511)gaA>gaC	p.E837D	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.E672D|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.E809D|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.E704D			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	837					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.E809D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCCCTTCCCATTCCTTCTTGG	0.642																																						uc001kxj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2425-2427)GAA>GAC		SH3 multiple domains 1							69.0	71.0	70.0					10																	105362464		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362464T>G	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2511A>C	10.37:g.105362464T>G	ENSP00000358789:p.Glu837Asp					SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.E644D|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.E686D|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.E644D|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.E752D	p.E809D	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	2567	-		Colorectal(252;0.0815)|Breast(234;0.131)	837					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2427A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.124|5.124	0.208407|0.208407	0.09757|0.09757	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53|.	4.83|4.83	-6.7|-6.7	0.01766|0.01766	Src homology-3 domain (1);|.	0.257041|.	0.44688|.	N|.	0.000433|.	T|T	0.30759|0.30759	0.0775|0.0775	L|L	0.34521|0.34521	1.04|1.04	0.20638|0.20638	N|N	0.999875|0.999875	B;B;B;B|.	0.25850|.	0.084;0.084;0.104;0.136|.	B;B;B;B|.	0.30855|.	0.031;0.02;0.028;0.121|.	T|T	0.36744|0.36744	-0.9735|-0.9735	10|5	0.19590|.	T|.	0.45|.	-8.0756|-8.0756	10.8997|10.8997	0.47045|0.47045	0.0:0.602:0.1036:0.2944|0.0:0.602:0.1036:0.2944	.|.	837;686;682;809|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	D|L	837;809;644;752;704;672|764	ENSP00000358789:E837D;ENSP00000348215:E809D;ENSP00000443663:E704D;ENSP00000441514:E672D|.	ENSP00000318135:E644D|.	E|M	-|-	3|1	2|0	SH3PXD2A|SH3PXD2A	105352454|105352454	0.000000|0.000000	0.05858|0.05858	0.076000|0.076000	0.20297|0.20297	0.896000|0.896000	0.52359|0.52359	-1.827000|-1.827000	0.01704|0.01704	-1.313000|-1.313000	0.02303|0.02303	0.454000|0.454000	0.30748|0.30748	GAA|ATG		PASS	0.642	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		53	21	53	21	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105362496	105362496	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:105362496C>T	ENST00000369774.4	-	15	2755	c.2479G>A	c.(2479-2481)Gcc>Acc	p.A827T	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A662T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A799T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A694T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	827					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.A799T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAGTGGTGGCTGGGAGGGTG	0.627																																						uc001kxj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2395-2397)GCC>ACC		SH3 multiple domains 1							71.0	75.0	74.0					10																	105362496		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362496C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2479G>A	10.37:g.105362496C>T	ENSP00000358789:p.Ala827Thr					SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.A634T|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.A676T|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.A634T|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.A742T	p.A799T	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	2535	-		Colorectal(252;0.0815)|Breast(234;0.131)	827					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2395G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.047|0.047	-1.264181|-1.264181	0.01433|0.01433	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.58506|.	0.41;0.38;0.55;0.33|.	4.83|4.83	0.157|0.157	0.14915|0.14915	.|.	0.294346|.	0.37857|.	N|.	0.001903|.	T|T	0.09291|0.09291	0.0229|0.0229	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.06786|.	0.001;0.001;0.0;0.0|.	B;B;B;B|.	0.06405|.	0.001;0.001;0.002;0.002|.	T|T	0.27157|0.27157	-1.0082|-1.0082	10|5	0.11794|.	T|.	0.64|.	-9.8551|-9.8551	1.2834|1.2834	0.02046|0.02046	0.4451:0.2478:0.1184:0.1887|0.4451:0.2478:0.1184:0.1887	.|.	827;676;672;799|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|N	827;799;634;742;694;662|753	ENSP00000358789:A827T;ENSP00000348215:A799T;ENSP00000443663:A694T;ENSP00000441514:A662T|.	ENSP00000318135:A634T|.	A|S	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105352486|105352486	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.024000|0.024000	0.10985|0.10985	-0.018000|-0.018000	0.12568|0.12568	0.454000|0.454000	0.26884|0.26884	0.555000|0.555000	0.69702|0.69702	GCC|AGC		PASS	0.627	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		60	33	60	33	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120801779	120801779	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:120801779C>A	ENST00000369144.3	-	19	3380	c.3253G>T	c.(3253-3255)Gat>Tat	p.D1085Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.D1051Y	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.D1085Y(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCCCGGTCATCATCCATGCCT	0.627																																						uc001ldu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3253-3255)GAT>TAT		eukaryotic translation initiation factor 3,							109.0	116.0	113.0					10																	120801779		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801779C>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3253G>T	10.37:g.120801779C>A	ENSP00000358140:p.Asp1085Tyr					EIF3A_uc010qsu.1_Missense_Mutation_p.D1051Y|EIF3A_uc009xzg.1_Missense_Mutation_p.D124Y	p.D1085Y	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3399	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1085			17.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3253G>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782745	0.16189	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26810	1.72;1.71	3.57	2.65	0.31530	.	.	.	.	.	T	0.44414	0.1292	M	0.76002	2.32	0.58432	D	0.999999	D;P	0.65815	0.995;0.524	P;B	0.60473	0.875;0.282	T	0.39820	-0.9595	9	0.72032	D	0.01	.	10.7014	0.45928	0.0:0.9023:0.0:0.0977	.	1051;1085	F5H335;Q14152	.;EIF3A_HUMAN	Y	1085;1051	ENSP00000358140:D1085Y;ENSP00000438178:D1051Y	ENSP00000358140:D1085Y	D	-	1	0	EIF3A	120791769	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	6.352000	0.73027	0.463000	0.27118	-0.481000	0.04817	GAT		PASS	0.627	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		109	53	109	53	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120832423	120832423	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr10:120832423A>G	ENST00000369144.3	-	4	647	c.520T>C	c.(520-522)Tac>Cac	p.Y174H	EIF3A_ENST00000541549.1_Missense_Mutation_p.Y140H	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.Y174H(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATATCATGGTACAGGCGCTCT	0.383																																						uc001ldu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)TAC>CAC		eukaryotic translation initiation factor 3,							109.0	111.0	111.0					10																	120832423		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120832423A>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.520T>C	10.37:g.120832423A>G	ENSP00000358140:p.Tyr174His					EIF3A_uc010qsu.1_Missense_Mutation_p.Y140H	p.Y174H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	4	666	-		Lung NSC(174;0.094)|all_lung(145;0.123)	174					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.520T>C	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550826	0.45383	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.64260	-0.07;-0.09	6.08	6.08	0.98989	.	0.000000	0.34986	U	0.003539	D	0.83640	0.5298	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.87253	0.2274	10	0.87932	D	0	-13.615	16.6512	0.85203	1.0:0.0:0.0:0.0	.	174	Q14152	EIF3A_HUMAN	H	174;140	ENSP00000358140:Y174H;ENSP00000438178:Y140H	ENSP00000358140:Y174H	Y	-	1	0	EIF3A	120822413	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	9.121000	0.94375	2.333000	0.79357	0.482000	0.46254	TAC		PASS	0.383	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		78	25	78	25	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1023947	1023947	+	Splice_Site	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:1023947G>T	ENST00000421673.2	-	25	3432	c.3382C>A	c.(3382-3384)Ccc>Acc	p.P1128T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1128					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P1128T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCACTCACGGCAGAAGGCC	0.692																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3382-3384)CCC>ACC		mucin 6, gastric							22.0	32.0	29.0					11																	1023947		2168	4257	6425	SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1023947G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3382+1C>A	11.37:g.1023947G>T							p.P1128T	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	25	3433	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1128					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3382C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791552	0.50102	.	.	ENSG00000184956	ENST00000421673	T	0.78707	-1.2	4.07	4.07	0.47477	Uncharacterised domain, cysteine-rich (2);	0.272243	0.18647	N	0.135109	D	0.92381	0.7582	H	0.97390	3.995	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	D	0.95200	0.8316	9	.	.	.	.	16.6364	0.85060	0.0:0.0:1.0:0.0	.	1128	Q6W4X9	MUC6_HUMAN	T	1128	ENSP00000406861:P1128T	.	P	-	1	0	MUC6	1013947	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.674000	0.98633	1.989000	0.58080	0.542000	0.68232	CCC		PASS	0.692	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Missense_Mutation	6	13	6	13	---	---	---	---
OR51B4	79339	broad.mit.edu	37	11	5322673	5322673	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:5322673G>T	ENST00000380224.1	-	1	553	c.504C>A	c.(502-504)tcC>tcA	p.S168S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	168					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S168S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGGCACGGGAACCACAAT	0.418																																						uc010qza.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(502-504)TCC>TCA		olfactory receptor, family 51, subfamily B,							119.0	107.0	111.0					11																	5322673		2201	4297	6498	SO:0001819	synonymous_variant	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322673G>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.504C>A	11.37:g.5322673G>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.S168S	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	504	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	168			Extracellular (Potential).		A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	c.504C>A	CCDS7757.1																																																																																				PASS	0.418	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		44	58	44	58	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5537191	5537191	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:5537191T>A	ENST00000380184.1	-	1	744	c.481A>T	c.(481-483)Acc>Tcc	p.T161S	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	161								p.T161S(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)		AAGTTTTGGGTATGCACTTTG	0.517																																						uc001maz.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(481-483)ACC>TCC		ubiquilin-like							136.0	132.0	133.0					11																	5537191		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537191T>A	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.481A>T	11.37:g.5537191T>A	ENSP00000369531:p.Thr161Ser					HBG2_uc001mak.1_Intron	p.T161S	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	766	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	161					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.481A>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.678844	0.00751	.	.	ENSG00000175518	ENST00000380184	T	0.48201	0.82	4.57	3.42	0.39159	.	0.969120	0.08414	N	0.949434	T	0.41026	0.1141	L	0.46157	1.445	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.30880	-0.9963	10	0.39692	T	0.17	.	7.5518	0.27802	0.1901:0.0:0.0:0.8099	.	161	Q8IYU4	UBQLN_HUMAN	S	161	ENSP00000369531:T161S	ENSP00000369531:T161S	T	-	1	0	UBQLNL	5493767	0.052000	0.20516	0.001000	0.08648	0.062000	0.15995	1.809000	0.38922	0.845000	0.35118	0.533000	0.62120	ACC		PASS	0.517	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		80	58	80	58	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969309	5969309	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:5969309T>C	ENST00000329564.6	+	1	740	c.733T>C	c.(733-735)Tgt>Cgt	p.C245R		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C245R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTAAGCACATGTGGCTCCCA	0.517																																						uc010qzt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)TGT>CGT		olfactory receptor, family 56, subfamily A,							243.0	232.0	236.0					11																	5969309		2192	4295	6487	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969309T>C		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.733T>C	11.37:g.5969309T>C	ENSP00000331572:p.Cys245Arg						p.C245R	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	733	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	245			Helical; Name=6; (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.733T>C	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.853783	0.51270	.	.	ENSG00000184478	ENST00000329564	T	0.00372	7.73	5.13	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.01353	0.0044	H	0.94423	3.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.41431	-0.9509	10	0.87932	D	0	-23.1235	10.2445	0.43332	0.1485:0.0:0.0:0.8515	.	245	Q8NH54	O56A3_HUMAN	R	245	ENSP00000331572:C245R	ENSP00000331572:C245R	C	+	1	0	OR56A3	5925885	1.000000	0.71417	0.996000	0.52242	0.779000	0.44077	7.189000	0.77747	0.948000	0.37687	0.529000	0.55759	TGT		PASS	0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		55	218	55	218	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6191170	6191170	+	Silent	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:6191170A>G	ENST00000530810.1	-	1	468	c.387T>C	c.(385-387)tgT>tgC	p.C129C	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C129C(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGTGGGGCACAAATGGCCA	0.502																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(385-387)TGT>TGC		olfactory receptor, family 52, subfamily B,							61.0	64.0	63.0					11																	6191170		2187	4289	6476	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191170A>G	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.387T>C	11.37:g.6191170A>G							p.C129C	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	387	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	129			Cytoplasmic (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.387T>C	CCDS53598.1																																																																																				PASS	0.502	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		18	62	18	62	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17124270	17124270	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:17124270T>A	ENST00000265970.7	-	23	3789	c.3790A>T	c.(3790-3792)Atg>Ttg	p.M1264L	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.M884L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1264	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.M1264L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ATGTGAAACATGTGTCCCGTG	0.408																																						uc001mmq.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(3790-3792)ATG>TTG		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						132.0	116.0	121.0					11																	17124270		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17124270T>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3790A>T	11.37:g.17124270T>A	ENSP00000265970:p.Met1264Leu					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.M884L|PIK3C2A_uc001mmr.3_Intron	p.M1264L	NM_002645	NP_002636	O00443	P3C2A_HUMAN			23	3856	-			1264			PI3K/PI4K.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.3790A>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284036	0.59867	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77489	-1.1;-1.1	5.45	5.45	0.79879	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	N	0.00637	-1.305	0.80722	D	1	P	0.49696	0.927	D	0.66602	0.945	T	0.67209	-0.5728	10	0.02654	T	1	-15.2037	15.7961	0.78412	0.0:0.0:0.0:1.0	.	1264	O00443	P3C2A_HUMAN	L	1264;884	ENSP00000265970:M1264L;ENSP00000438687:M884L	ENSP00000265970:M1264L	M	-	1	0	PIK3C2A	17080846	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.997000	0.88414	2.197000	0.70478	0.533000	0.62120	ATG		PASS	0.408	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		43	87	43	87	---	---	---	---
LDLRAD3	143458	broad.mit.edu	37	11	36057729	36057729	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:36057729G>A	ENST00000315571.5	+	2	144	c.123G>A	c.(121-123)cgG>cgA	p.R41R	LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	41	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.R41R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GCAATGGACGGTGCATCCCGG	0.602																																						uc001mwk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(121-123)CGG>CGA		low density lipoprotein receptor class A domain							107.0	97.0	100.0					11																	36057729		2202	4298	6500	SO:0001819	synonymous_variant	143458					integral to membrane	receptor activity	g.chr11:36057729G>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.123G>A	11.37:g.36057729G>A						LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron	p.R41R	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			2	160	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	41			LDL-receptor class A 1.|Extracellular (Potential).		B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	ENST00000315571.5	37	c.123G>A	CCDS31462.1																																																																																				PASS	0.602	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		24	89	24	89	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137227	40137227	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:40137227T>A	ENST00000278198.2	-	2	2579	c.616A>T	c.(616-618)Atg>Ttg	p.M206L	LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.M206L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGGTTGCACATGGCAAGGTTC	0.453																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(616-618)ATG>TTG		netrin-G1 ligand precursor							94.0	91.0	92.0					11																	40137227		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137227T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.616A>T	11.37:g.40137227T>A	ENSP00000278198:p.Met206Leu					LRRC4C_uc001mxc.1_Missense_Mutation_p.M202L|LRRC4C_uc001mxd.1_Missense_Mutation_p.M202L|LRRC4C_uc001mxb.1_Missense_Mutation_p.M202L	p.M206L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2580	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	206			LRR 6.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.616A>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478643	0.63849	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.05181	0.0138	N	0.04880	-0.145	0.58432	D	0.999999	P	0.49185	0.92	P	0.53102	0.718	T	0.59621	-0.7420	10	0.10902	T	0.67	.	14.9889	0.71371	0.0:0.0:0.0:1.0	.	206	Q9HCJ2	LRC4C_HUMAN	L	206	ENSP00000278198:M206L;ENSP00000436976:M206L;ENSP00000437132:M206L;ENSP00000434761:M206L	ENSP00000278198:M206L	M	-	1	0	LRRC4C	40093803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.136000	0.66102	0.528000	0.53228	ATG		PASS	0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		29	106	29	106	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003789	50003789	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:50003789G>T	ENST00000335238.4	-	1	282	c.249C>A	c.(247-249)tcC>tcA	p.S83S		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S83S(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTCTTGAAAGGAATCCACAA	0.443																																						uc010ria.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(247-249)TCC>TCA		olfactory receptor, family 4, subfamily C,							91.0	92.0	91.0					11																	50003789		2201	4296	6497	SO:0001819	synonymous_variant	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003789G>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.249C>A	11.37:g.50003789G>T							p.S83S	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	249	-			83			Extracellular (Potential).		B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	c.249C>A	CCDS31496.1																																																																																				PASS	0.443	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		81	64	81	64	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579306	55579306	+	Missense_Mutation	SNP	C	C	G	rs149851583	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:55579306C>G	ENST00000333973.2	+	1	453	c.364C>G	c.(364-366)Cgc>Ggc	p.R122G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCCTATGACCGCTTTGTGGC	0.527																																						uc001nhw.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(364-366)CGC>GGC		olfactory receptor, family 5, subfamily L,							211.0	175.0	187.0					11																	55579306		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579306C>G	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.364C>G	11.37:g.55579306C>G	ENSP00000335529:p.Arg122Gly						p.R122G	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	364	+		all_epithelial(135;0.208)	122			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.364C>G	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	16.69	3.193775	0.58017	.	.	ENSG00000186117	ENST00000333973	T	0.77620	-1.11	4.18	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.129928	0.35772	N	0.002992	D	0.85504	0.5712	H	0.96111	3.77	0.26102	N	0.980805	P	0.42010	0.768	P	0.49276	0.605	T	0.79351	-0.1839	10	0.87932	D	0	-18.8028	4.6773	0.12719	0.1519:0.6111:0.1478:0.0892	.	122	Q8NGL2	OR5L1_HUMAN	G	122	ENSP00000335529:R122G	ENSP00000335529:R122G	R	+	1	0	OR5L1	55335882	1.000000	0.71417	0.578000	0.28575	0.975000	0.68041	1.416000	0.34759	0.214000	0.20742	0.435000	0.28638	CGC		PASS	0.527	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		70	90	70	90	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872567	55872568	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:55872567_55872568GG>AT	ENST00000313503.1	+	1	49_50	c.49_50GG>AT	c.(49-51)GGa>ATa	p.G17I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G17I(1)|p.G17*(1)|p.G17R(1)|p.G17V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATCCTTATGGGACTGACACTT	0.426										HNSCC(53;0.14)																												uc010riy.1																			4	Substitution - Missense(3)|Substitution - Nonsense(1)		lung(3)|cervix(1)	ovary(1)|skin(1)	2						c.(49-51)GGA>AGA|c.(49-51)GGA>GTA		olfactory receptor, family 8, subfamily H,																																				SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872567G>A|g.chr11:55872568G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	Exception_encountered	11.37:g.55872567_55872568delinsAT	ENSP00000323982:p.Gly17Ile	HNSCC(53;0.14)					p.G17R|p.G17V	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	49|50	+	Esophageal squamous(21;0.00693)		17			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.49G>A|c.50G>T	CCDS31518.1																																																																																				PASS	0.426	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		64|65	211	64	211	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043328	56043328	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:56043328T>A	ENST00000313033.2	+	1	300	c.214T>A	c.(214-216)Tac>Aac	p.Y72N		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y72N(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CAGCCCAATGTACTATTTTCT	0.348																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(214-216)TAC>AAC		olfactory receptor, family 5, subfamily T,							88.0	86.0	87.0					11																	56043328		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043328T>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.214T>A	11.37:g.56043328T>A	ENSP00000323612:p.Tyr72Asn						p.Y72N	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	214	+	Esophageal squamous(21;0.00448)		72			Helical; Name=2; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.214T>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504568	0.64410	.	.	ENSG00000181698	ENST00000313033	T	0.15603	2.41	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001342	T	0.54382	0.1855	H	0.98111	4.15	0.38714	D	0.953295	D	0.89917	1.0	D	0.69142	0.962	T	0.72707	-0.4212	10	0.87932	D	0	.	11.5195	0.50543	0.0:0.0:0.0:1.0	.	72	Q8NG75	OR5T1_HUMAN	N	72	ENSP00000323612:Y72N	ENSP00000323612:Y72N	Y	+	1	0	OR5T1	55799904	1.000000	0.71417	0.948000	0.38648	0.130000	0.20726	4.345000	0.59360	1.652000	0.50683	0.386000	0.25728	TAC		PASS	0.348	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		52	47	52	47	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043399	56043399	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:56043399C>A	ENST00000313033.2	+	1	371	c.285C>A	c.(283-285)gtC>gtA	p.V95V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V95V(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAATGTTGGTCAATTTCCTGG	0.378																																						uc001nio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(283-285)GTC>GTA		olfactory receptor, family 5, subfamily T,							111.0	108.0	109.0					11																	56043399		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043399C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.285C>A	11.37:g.56043399C>A							p.V95V	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	285	+	Esophageal squamous(21;0.00448)		95			Extracellular (Potential).		B2RNM9	Silent	SNP	ENST00000313033.2	37	c.285C>A	CCDS31525.1																																																																																				PASS	0.378	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		95	77	95	77	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230873	56230873	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:56230873G>T	ENST00000279791.1	-	1	4	c.5C>A	c.(4-6)cCt>cAt	p.P2H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P2H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CGTGAAATTAGGCATTGCCTT	0.408																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(4-6)CCT>CAT		olfactory receptor, family 5, subfamily M,							21.0	22.0	22.0					11																	56230873		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230873G>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.5C>A	11.37:g.56230873G>T	ENSP00000279791:p.Pro2His						p.P2H	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	5	-	Esophageal squamous(21;0.00448)		2			Extracellular (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.5C>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845451	0.32606	.	.	ENSG00000150269	ENST00000279791	T	0.01323	5.01	4.65	2.61	0.31194	.	0.000000	0.41294	D	0.000902	T	0.01287	0.0042	L	0.31476	0.935	0.25461	N	0.987916	P	0.37038	0.579	B	0.38056	0.264	T	0.48375	-0.9041	10	0.72032	D	0.01	0.0093	4.7159	0.12894	0.1069:0.0:0.5477:0.3454	.	2	Q8NGP3	OR5M9_HUMAN	H	2	ENSP00000279791:P2H	ENSP00000279791:P2H	P	-	2	0	OR5M9	55987449	0.004000	0.15560	1.000000	0.80357	0.818000	0.46254	0.510000	0.22723	2.274000	0.75844	0.549000	0.68633	CCT		PASS	0.408	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		5	35	5	35	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190174	58190174	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:58190174G>A	ENST00000302581.2	-	1	612	c.561C>T	c.(559-561)tgC>tgT	p.C187C		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C187C(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTTTATCAGAGCAAGACAGAG	0.373																																						uc010rkg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(559-561)TGC>TGT		olfactory receptor, family 5, subfamily B,							60.0	57.0	58.0					11																	58190174		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190174G>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.561C>T	11.37:g.58190174G>A							p.C187C	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	561	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	187			Extracellular (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.561C>T	CCDS31550.1																																																																																				PASS	0.373	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		30	34	30	34	---	---	---	---
OR5A2	219981	broad.mit.edu	37	11	59189883	59189883	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:59189883G>T	ENST00000302040.4	-	1	566	c.544C>A	c.(544-546)Ctc>Atc	p.L182I		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L182I(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGGAGGGAGGTCACAGAAA	0.478																																						uc010rkt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CTC>ATC		olfactory receptor, family 5, subfamily A,							102.0	90.0	94.0					11																	59189883		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189883G>T	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.544C>A	11.37:g.59189883G>T	ENSP00000303834:p.Leu182Ile						p.L182I	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	544	-			182			Extracellular (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.544C>A	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732263	0.30684	.	.	ENSG00000172324	ENST00000302040	T	0.37411	1.2	5.47	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31936	U	0.006840	T	0.24122	0.0584	N	0.04116	-0.275	0.22112	N	0.999359	D	0.55800	0.973	P	0.57009	0.811	T	0.21621	-1.0240	10	0.02654	T	1	.	10.3915	0.44171	0.0:0.1416:0.7015:0.1569	.	182	Q8NGI9	OR5A2_HUMAN	I	182	ENSP00000303834:L182I	ENSP00000303834:L182I	L	-	1	0	OR5A2	58946459	0.000000	0.05858	0.818000	0.32626	0.924000	0.55760	-0.453000	0.06778	0.740000	0.32651	0.585000	0.79938	CTC		PASS	0.478	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		25	75	25	75	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245475	59245475	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:59245475C>T	ENST00000530162.1	+	1	630	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D191D(1)|p.D189D(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCATACAGACATTTTCATAC	0.453																																						uc001nnz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(571-573)GAC>GAT		olfactory receptor, family 4, subfamily D,							87.0	88.0	88.0					11																	59245475		2201	4295	6496	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245475C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.573C>T	11.37:g.59245475C>T							p.D191D	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	573	+			191			Extracellular (Potential).		B2RNH6	Silent	SNP	ENST00000530162.1	37	c.573C>T	CCDS53636.1																																																																																				PASS	0.453	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		55	40	55	40	---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61511438	61511438	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:61511438G>C	ENST00000257215.5	+	20	2722	c.2606G>C	c.(2605-2607)cGg>cCg	p.R869P	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	869					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R869P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACTCCTGAGCGGCCCCCCAGT	0.731																																						uc001nsa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2605-2607)CGG>CCG		neural stem cell-derived dendrite regulator							26.0	34.0	31.0					11																	61511438		2161	4216	6377	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511438G>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2606G>C	11.37:g.61511438G>C	ENSP00000257215:p.Arg869Pro						p.R869P	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2717	+			869			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2606G>C	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357209	0.41801	.	.	ENSG00000134780	ENST00000257215	T	0.24151	1.87	3.21	3.21	0.36854	.	0.599264	0.16232	N	0.223561	T	0.18467	0.0443	N	0.14661	0.345	0.43642	D	0.996047	D	0.56521	0.976	B	0.43155	0.41	T	0.21552	-1.0242	10	0.62326	D	0.03	-24.8238	15.6834	0.77391	0.0:0.0:1.0:0.0	.	869	Q9Y4D2	DGLA_HUMAN	P	869	ENSP00000257215:R869P	ENSP00000257215:R869P	R	+	2	0	DAGLA	61268014	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.506000	0.45433	2.110000	0.64415	0.561000	0.74099	CGG		PASS	0.731	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		24	57	24	57	---	---	---	---
SLC22A6	9356	broad.mit.edu	37	11	62749403	62749403	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:62749403G>A	ENST00000377871.3	-	4	974	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SLC22A6_ENST00000360421.4_Silent_p.L236L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Silent_p.L236L|SLC22A6_ENST00000458333.2_Silent_p.L236L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	236					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L236L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CACCAGCCAGGAGGAACTGGC	0.592																																						uc001nwk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)CTC>CTT		solute carrier family 22 member 6 isoform a							62.0	52.0	56.0					11																	62749403		2201	4298	6499	SO:0001819	synonymous_variant	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62749403G>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.708C>T	11.37:g.62749403G>A						SLC22A6_uc001nwl.2_Silent_p.L236L|SLC22A6_uc001nwj.2_Silent_p.L236L|SLC22A6_uc001nwm.2_Silent_p.L236L	p.L236L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			4	1015	-			236			Helical; (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	c.708C>T	CCDS31591.1																																																																																				PASS	0.592	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		25	18	25	18	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65320915	65320915	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:65320915G>T	ENST00000301873.5	-	4	1219	c.951C>A	c.(949-951)caC>caA	p.H317Q	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.H317Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	317	TB 1.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.H317Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GGGGACACTTGTGGCACTTGC	0.667																																						uc001oej.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(949-951)CAC>CAA		latent transforming growth factor beta binding							28.0	30.0	29.0					11																	65320915		2194	4291	6485	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65320915G>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.951C>A	11.37:g.65320915G>T	ENSP00000301873:p.His317Gln					LTBP3_uc010roi.1_Missense_Mutation_p.H200Q|LTBP3_uc001oei.2_Missense_Mutation_p.H317Q|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.H228Q	p.H317Q	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN			4	1220	-			317			TB 1.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.951C>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551032	0.13374	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530866;ENST00000530426	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	4.8	3.86	0.44501	Matrix fibril-associated (3);TGF-beta binding (1);	0.063428	0.64402	D	0.000005	D	0.85944	0.5815	N	0.10916	0.065	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;P	0.85130	0.997;0.915;0.997;0.897	T	0.81398	-0.0951	10	0.06099	T	0.92	.	6.752	0.23491	0.2185:0.0:0.7815:0.0	.	228;200;317;317	E9PKW1;B9EG76;Q9NS15;Q9NS15-2	.;.;LTBP3_HUMAN;.	Q	317;317;228;38	ENSP00000326647:H317Q;ENSP00000301873:H317Q;ENSP00000435276:H228Q;ENSP00000432476:H38Q	ENSP00000301873:H317Q	H	-	3	2	LTBP3	65077491	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.233000	0.32648	1.186000	0.42985	0.505000	0.49811	CAC		PASS	0.667	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		3	54	3	54	---	---	---	---
PELI3	246330	broad.mit.edu	37	11	66239871	66239871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:66239871C>A	ENST00000320740.7	+	5	546	c.386C>A	c.(385-387)tCg>tAg	p.S129*	CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000524466.1_Nonsense_Mutation_p.S129*|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000349459.6_Nonsense_Mutation_p.S105*	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	129					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S129*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACAGCATCTCGTATACACTG	0.532																																						uc001oic.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(385-387)TCG>TAG		pellino 3 alpha isoform 1							198.0	150.0	167.0					11																	66239871		2200	4295	6495	SO:0001587	stop_gained	246330					cytosol	protein binding	g.chr11:66239871C>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.386C>A	11.37:g.66239871C>A	ENSP00000322532:p.Ser129*					PELI3_uc001oib.2_Nonsense_Mutation_p.S129*|PELI3_uc001oid.3_Nonsense_Mutation_p.S105*|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank	p.S129*	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN			5	550	+			129					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Nonsense_Mutation	SNP	ENST00000320740.7	37	c.386C>A	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	C	38	6.803075	0.97849	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5878	16.7621	0.85515	0.0:1.0:0.0:0.0	.	.	.	.	X	105;129;129;22	.	ENSP00000322532:S129X	S	+	2	0	PELI3	65996447	1.000000	0.71417	0.976000	0.42696	0.902000	0.53008	7.651000	0.83577	2.826000	0.97356	0.563000	0.77884	TCG		PASS	0.532	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		4	148	4	148	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66472375	66472375	+	Missense_Mutation	SNP	G	G	A	rs533325556		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:66472375G>A	ENST00000533211.1	-	15	2703	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A791V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A791V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	791					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A791V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCCAGGGCCCGATGCTG	0.682																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2371-2373)GCC>GTC		spectrin, beta, non-erythrocytic 2							49.0	48.0	49.0					11																	66472375		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472375G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2372C>T	11.37:g.66472375G>A	ENSP00000432568:p.Ala791Val						p.A791V	NM_006946	NP_008877	O15020	SPTN2_HUMAN			14	2444	-			791			Spectrin 5.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.2372C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118525	0.56505	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.53640	0.61;0.61;0.61	4.7	3.77	0.43336	.	0.141429	0.48286	D	0.000189	T	0.46171	0.1379	L	0.38692	1.165	0.39061	D	0.960536	P	0.51240	0.943	P	0.53760	0.734	T	0.45498	-0.9257	10	0.46703	T	0.11	.	7.449	0.27227	0.0:0.1593:0.5349:0.3059	.	791	O15020	SPTN2_HUMAN	V	791	ENSP00000432568:A791V;ENSP00000311489:A791V;ENSP00000433593:A791V	ENSP00000311489:A791V	A	-	2	0	SPTBN2	66228951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.653000	0.54446	1.157000	0.42530	0.467000	0.42956	GCC		PASS	0.682	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		24	87	24	87	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78412887	78412887	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:78412887T>A	ENST00000278550.7	-	28	5233	c.4771A>T	c.(4771-4773)Acc>Tcc	p.T1591S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1591					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.T1591S(2)									TTGCCGGTGGTATCAAACAGA	0.502																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(4771-4773)ACC>TCC		odz, odd Oz/ten-m homolog 4							129.0	132.0	131.0					11																	78412887		2047	4183	6230	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78412887T>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4771A>T	11.37:g.78412887T>A	ENSP00000278550:p.Thr1591Ser					ODZ4_uc009yvb.1_Missense_Mutation_p.T175S	p.T1591S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	5234	-			1591			Extracellular (Potential).|YD 1.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.4771A>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	5.237	0.229126	0.09916	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.88664	-2.41;0.94	5.25	4.11	0.48088	Six-bladed beta-propeller, TolB-like (1);	0.245514	0.41294	D	0.000919	T	0.75679	0.3882	N	0.08118	0	0.31449	N	0.671034	B	0.12630	0.006	B	0.08055	0.003	T	0.68150	-0.5485	9	.	.	.	.	11.5556	0.50745	0.1339:0.0:0.0:0.8661	.	1591	Q6N022	TEN4_HUMAN	S	1591;55	ENSP00000278550:T1591S;ENSP00000431711:T55S	.	T	-	1	0	ODZ4	78090535	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	1.894000	0.39768	0.989000	0.38761	0.528000	0.53228	ACC		PASS	0.502	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			82	72	82	72	---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86111844	86111844	+	Splice_Site	SNP	G	G	T	rs200365237		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:86111844G>T	ENST00000445632.2	+	7	1153		c.e7+1		CCDC81_ENST00000528728.1_Splice_Site|CCDC81_ENST00000354755.1_Splice_Site|CCDC81_ENST00000278487.3_Splice_Site	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81									p.?(2)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCCCTGAAAGGTAATGCATTG	0.373																																						uc001pbx.1																			2	Unknown(2)		lung(2)	skin(1)	1						c.e7+1		coiled-coil domain containing 81 isoform 1							145.0	148.0	147.0					11																	86111844		2202	4299	6501	SO:0001630	splice_region_variant	60494							g.chr11:86111844G>T	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.881+1G>T	11.37:g.86111844G>T						CCDC81_uc001pbw.1_Splice_Site_p.S204_splice|CCDC81_uc010rtq.1_Splice_Site_p.S77_splice|CCDC81_uc001pby.1_Splice_Site_p.S77_splice	p.S294_splice	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN			7	1309	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)						A0AVL7|Q53FW3|Q9H5E5	Splice_Site	SNP	ENST00000445632.2	37	c.881_splice	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462150	0.26248	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.902	0.86116	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC81	85789492	1.000000	0.71417	0.941000	0.38009	0.024000	0.10985	4.606000	0.61126	2.652000	0.90054	0.655000	0.94253	.		PASS	0.373	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	Intron	72	66	72	66	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88242498	88242498	+	Silent	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:88242498T>C	ENST00000305447.4	-	9	3050	c.2901A>G	c.(2899-2901)gcA>gcG	p.A967A	GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000305432.5_Silent_p.A935A|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Silent_p.A967A|GRM5_ENST00000455756.2_Silent_p.A935A|GRM5_ENST00000393297.1_Intron	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	967					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A967A(1)|p.A935A(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CGCTCCCGCCTGCGCCAGCGC	0.726																																						uc001pcq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2899-2901)GCA>GCG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						11.0	14.0	13.0					11																	88242498		1950	3877	5827	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242498T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2901A>G	11.37:g.88242498T>C						GRM5_uc009yvm.2_Silent_p.A935A	p.A967A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			9	3101	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	967			Cytoplasmic (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.2901A>G	CCDS44694.1																																																																																				PASS	0.726	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		23	8	23	8	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92526090	92526090	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:92526090C>A	ENST00000298047.6	+	8	4786	c.4769C>A	c.(4768-4770)gCt>gAt	p.A1590D	FAT3_ENST00000409404.2_Missense_Mutation_p.A1590D|FAT3_ENST00000525166.1_Missense_Mutation_p.A1440D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1590	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1590D(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAAGTGACGGCTCTGGACAAA	0.448										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(4768-4770)GCT>GAT		FAT tumor suppressor homolog 3							106.0	108.0	108.0					11																	92526090		2017	4197	6214	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92526090C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4769C>A	11.37:g.92526090C>A	ENSP00000298047:p.Ala1590Asp	TCGA Ovarian(4;0.039)					p.A1590D	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	4786	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1590			Cadherin 15.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4769C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.121533	0.94385	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61980	0.06;0.06;0.06	5.74	5.74	0.90152	.	.	.	.	.	D	0.89746	0.6804	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93740	0.7049	9	0.87932	D	0	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	1590	Q8TDW7-3	.	D	1590;1590;1440	ENSP00000298047:A1590D;ENSP00000387040:A1590D;ENSP00000432586:A1440D	ENSP00000298047:A1590D	A	+	2	0	FAT3	92165738	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.382000	0.79729	2.873000	0.98535	0.561000	0.74099	GCT		PASS	0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		48	37	48	37	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94731217	94731217	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:94731217C>A	ENST00000335080.5	+	3	1513	c.681C>A	c.(679-681)gcC>gcA	p.A227A	KDM4D_ENST00000536741.1_Silent_p.A227A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	227	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A227A(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACGCCTGGCCAGGGAGCTCT	0.592																																						uc001pfe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(679-681)GCC>GCA		jumonji domain containing 2D							49.0	53.0	51.0					11																	94731217		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731217C>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.681C>A	11.37:g.94731217C>A							p.A227A	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1513	+			227			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.681C>A	CCDS8302.1																																																																																				PASS	0.592	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		25	81	25	81	---	---	---	---
PDGFD	80310	broad.mit.edu	37	11	103780489	103780489	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:103780489A>G	ENST00000393158.2	-	7	1225	c.1046T>C	c.(1045-1047)cTa>cCa	p.L349P	PDGFD_ENST00000302251.5_Missense_Mutation_p.L343P			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	349					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.L349P(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GATGTCAACTAGAGCCATGGT	0.458																																						uc001phq.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1045-1047)CTA>CCA		platelet derived growth factor D isoform 1							317.0	257.0	277.0					11																	103780489		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780489A>G	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1046T>C	11.37:g.103780489A>G	ENSP00000376865:p.Leu349Pro					PDGFD_uc001php.2_Missense_Mutation_p.L343P	p.L349P	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	7	1418	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	349					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.1046T>C	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.761490	0.49468	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.37058	1.23;1.22	5.91	5.91	0.95273	Platelet-derived growth factor (PDGF) (3);	0.122857	0.49305	D	0.000144	T	0.59473	0.2196	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.72338	0.929;0.977	T	0.62511	-0.6839	10	0.87932	D	0	-12.7861	16.3513	0.83213	1.0:0.0:0.0:0.0	.	349;343	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	P	349;343	ENSP00000376865:L349P;ENSP00000302193:L343P	ENSP00000302193:L343P	L	-	2	0	PDGFD	103285699	0.999000	0.42202	0.909000	0.35828	0.211000	0.24417	6.774000	0.75012	2.252000	0.74401	0.533000	0.62120	CTA		PASS	0.458	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		48	121	48	121	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106681206	106681206	+	Splice_Site	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:106681206T>C	ENST00000526355.2	-	5	1675		c.e5-2		GUCY1A2_ENST00000282249.2_Splice_Site|GUCY1A2_ENST00000347596.2_Splice_Site	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.?(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTCCATCACCTGTGAAATTAA	0.333																																						uc001pjg.1																			1	Unknown(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.e5-1		guanylate cyclase 1, soluble, alpha 2							64.0	69.0	67.0					11																	106681206		2197	4298	6495	SO:0001630	splice_region_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106681206T>C	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1207-2A>G	11.37:g.106681206T>C						GUCY1A2_uc010rvo.1_Splice_Site_p.V424_splice|GUCY1A2_uc009yxn.1_Splice_Site_p.V403_splice	p.V403_splice	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1597	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)						A1L4C4|B7ZLT5	Splice_Site	SNP	ENST00000526355.2	37	c.1207_splice	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373126	0.61624	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7667	0.69646	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GUCY1A2	106186416	1.000000	0.71417	0.994000	0.49952	0.725000	0.41563	7.698000	0.84413	2.072000	0.62099	0.528000	0.53228	.		PASS	0.333	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		Intron	50	55	50	55	---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111844922	111844922	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:111844922C>T	ENST00000529225.1	+	5	769	c.489C>T	c.(487-489)gcC>gcT	p.A163A	DIXDC1_ENST00000440460.2_Silent_p.A164A|DIXDC1_ENST00000531396.1_Silent_p.A164A|DIXDC1_ENST00000389821.4_3'UTR	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	164	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.A164A(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CTGCTCTGGCCGATGTGTGTC	0.572																																						uc001pml.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(490-492)GCC>GCT		DIX domain containing 1 isoform a							50.0	50.0	50.0					11																	111844922		2058	4211	6269	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111844922C>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.489C>T	11.37:g.111844922C>T						DIXDC1_uc001pmj.2_Silent_p.A157A|DIXDC1_uc001pmk.2_Silent_p.A164A	p.A164A	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	4	789	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	164			Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000529225.1	37	c.492C>T																																																																																					PASS	0.572	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		23	10	23	10	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119027673	119027673	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:119027673G>A	ENST00000449422.2	+	9	1205	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	ABCG4_ENST00000307417.3_Silent_p.K339K|ABCG4_ENST00000531739.1_Silent_p.K339K|AP002956.1_ENST00000599663.1_Intron	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	339					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K339K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGAGAAGAAGAGCAGCCCTG	0.607																																						uc001pvs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1015-1017)AAG>AAA		ATP-binding cassette, subfamily G, member 4							183.0	167.0	172.0					11																	119027673		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027673G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1017G>A	11.37:g.119027673G>A						ABCG4_uc009zar.2_Silent_p.K339K	p.K339K	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	1353	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	339			Cytoplasmic (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1017G>A	CCDS8415.1																																																																																				PASS	0.607	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		52	164	52	164	---	---	---	---
CRTAM	56253	broad.mit.edu	37	11	122738174	122738174	+	Missense_Mutation	SNP	C	C	G	rs141494048		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:122738174C>G	ENST00000227348.4	+	8	922	c.875C>G	c.(874-876)aCg>aGg	p.T292R	CRTAM_ENST00000533709.1_Missense_Mutation_p.T93R	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.T292R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGCTGCTCACGCTGGTGTCC	0.413																																						uc001pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)ACG>AGG		class-I MHC-restricted T cell associated							111.0	101.0	104.0					11																	122738174		2202	4299	6501	SO:0001583	missense	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122738174C>G	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.875C>G	11.37:g.122738174C>G	ENSP00000227348:p.Thr292Arg					CRTAM_uc001pyk.2_Missense_Mutation_p.T93R	p.T292R	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	8	875	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	292			Helical; (Potential).			Missense_Mutation	SNP	ENST00000227348.4	37	c.875C>G	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862415	0.51482	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.58210	0.35;1.35	5.62	2.66	0.31614	.	0.281321	0.34088	N	0.004278	T	0.67979	0.2951	M	0.64997	1.995	0.28831	N	0.897125	D;D	0.89917	0.999;1.0	D;D	0.72625	0.964;0.978	T	0.66756	-0.5843	10	0.52906	T	0.07	.	15.2118	0.73230	0.0:0.6006:0.3994:0.0	.	93;292	O95727-2;O95727	.;CRTAM_HUMAN	R	292;93	ENSP00000227348:T292R;ENSP00000433728:T93R	ENSP00000227348:T292R	T	+	2	0	CRTAM	122243384	0.003000	0.15002	0.330000	0.25442	0.807000	0.45602	-0.075000	0.11431	0.294000	0.22547	0.655000	0.94253	ACG		PASS	0.413	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		13	49	13	49	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129812419	129812419	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr11:129812419C>A	ENST00000360871.3	-	7	1099	c.868G>T	c.(868-870)Gcc>Tcc	p.A290S	PRDM10_ENST00000358825.5_Missense_Mutation_p.A290S|PRDM10_ENST00000528746.1_Missense_Mutation_p.A264S|PRDM10_ENST00000423662.2_Missense_Mutation_p.A204S|PRDM10_ENST00000526082.1_Missense_Mutation_p.A204S|PRDM10_ENST00000304538.6_Missense_Mutation_p.A204S	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	290	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A290S(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGATTCTGGGCTGGCCGTACA	0.453																																						uc001qfm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(868-870)GCC>TCC		PR domain containing 10 isoform 1							145.0	139.0	141.0					11																	129812419		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129812419C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.868G>T	11.37:g.129812419C>A	ENSP00000354118:p.Ala290Ser					PRDM10_uc001qfj.2_Missense_Mutation_p.A204S|PRDM10_uc001qfk.2_Missense_Mutation_p.A204S|PRDM10_uc001qfl.2_Missense_Mutation_p.A204S|PRDM10_uc010sbx.1_Missense_Mutation_p.A204S|PRDM10_uc001qfn.2_Missense_Mutation_p.A290S|PRDM10_uc009zct.1_Missense_Mutation_p.A322S	p.A290S	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	7	1100	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	290			SET.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.868G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065852	0.93898	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	D;D;D;D;D;D;T	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;1.2	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91693	0.7374	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D;P;D	0.67145	0.969;0.996;0.982;0.969;0.982;0.954;0.982	D;D;D;D;D;D;D	0.83275	0.985;0.996;0.993;0.985;0.993;0.99;0.993	D	0.92061	0.5656	10	0.87932	D	0	-28.8123	19.5216	0.95187	0.0:1.0:0.0:0.0	.	204;290;290;290;204;204;204	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	S	290;204;290;204;264;204;7	ENSP00000351686:A290S;ENSP00000302669:A204S;ENSP00000354118:A290S;ENSP00000398431:A204S;ENSP00000431262:A264S;ENSP00000432237:A204S;ENSP00000435940:A7S	ENSP00000302669:A204S	A	-	1	0	PRDM10	129317629	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	2.700000	0.92200	0.561000	0.74099	GCC		PASS	0.453	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		73	68	73	68	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1969325	1969325	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:1969325G>T	ENST00000382722.5	-	19	2288	c.1926C>A	c.(1924-1926)agC>agA	p.S642R	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.S503R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S578R|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S617R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S642R|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S578R	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	642					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S642R(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AAGGGGTGTCGCTGATGTCCG	0.483																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1924-1926)AGC>AGA		voltage-gated calcium channel alpha(2)delta-4							67.0	69.0	68.0					12																	1969325		1972	4169	6141	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1969325G>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1926C>A	12.37:g.1969325G>T	ENSP00000372169:p.Ser642Arg					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.S506R	p.S642R	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	19	2157	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	642			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1926C>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630598	0.46944	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.06528	3.29	5.59	-4.31	0.03698	.	0.281045	0.45606	D	0.000347	T	0.07773	0.0195	L	0.44542	1.39	0.37348	D	0.910679	P;D	0.63046	0.745;0.992	B;P	0.54060	0.312;0.741	T	0.14755	-1.0461	10	0.37606	T	0.19	.	6.5888	0.22636	0.3027:0.0:0.4642:0.2331	.	642;642	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	R	578;642;642	ENSP00000372169:S642R	ENSP00000280663:S642R	S	-	3	2	CACNA2D4	1839586	0.006000	0.16342	0.953000	0.39169	0.899000	0.52679	-1.238000	0.02919	-0.802000	0.04421	-0.367000	0.07326	AGC		PASS	0.483	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			11	51	11	51	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2676768	2676768	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:2676768C>T	ENST00000347598.4	+	13	1703	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	CACNA1C_ENST00000335762.5_Missense_Mutation_p.T593M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T568M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T568M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T568M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T568M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T568M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T568M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	568					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.T568M(3)|p.T103M(1)|p.T598M(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)	GCCCTGTTCACGGCAGAGATG	0.617																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(1702-1704)ACG>ATG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						25.0	28.0	27.0					12																	2676768		2154	4280	6434	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.chr12:2676768C>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.1703C>T	12.37:g.2676768C>T	ENSP00000266376:p.Thr568Met					CACNA1C_uc009zdv.1_Missense_Mutation_p.T565M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T568M|CACNA1C_uc001qke.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T568M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T568M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T568M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T568M|CACNA1C_uc001qko.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T568M|CACNA1C_uc001qku.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T568M|CACNA1C_uc001qks.2_Missense_Mutation_p.T568M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T568M|CACNA1C_uc001qka.1_Missense_Mutation_p.T103M|CACNA1C_uc001qki.1_Missense_Mutation_p.T304M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T304M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T304M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T304M	p.T568M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2016	+			568			Helical; Name=S2 of repeat II; (Potential).|II.		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.1703C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871325	0.72065	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;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;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;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;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.994;0.999;0.999;0.998;0.999;0.982;0.998;0.999;0.998;0.993;0.999;0.999;1.0;0.997;0.956;0.999;0.953;0.997;0.999;0.999;0.997;0.996;0.998	D	0.99323	1.0907	10	0.59425	D	0.04	.	18.6365	0.91380	0.0:1.0:0.0:0.0	.	568;565;568;568;568;568;568;568;568;568;568;539;568;568;568;568;568;568;568;568;568;568;568;568;568	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;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	593;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;568;409	ENSP00000336982:T593M;ENSP00000382563:T568M;ENSP00000437936:T568M;ENSP00000382552:T568M;ENSP00000382547:T568M;ENSP00000382506:T568M;ENSP00000382530:T568M;ENSP00000382546:T568M;ENSP00000382500:T568M;ENSP00000382549:T568M;ENSP00000266376:T568M;ENSP00000382515:T568M;ENSP00000382510:T568M;ENSP00000341092:T568M;ENSP00000382537:T568M;ENSP00000329877:T568M;ENSP00000382557:T568M;ENSP00000385724:T568M;ENSP00000382512:T568M;ENSP00000382542:T568M;ENSP00000382526:T568M;ENSP00000385896:T568M;ENSP00000382504:T568M	ENSP00000323129:T409M	T	+	2	0	CACNA1C	2547029	1.000000	0.71417	0.954000	0.39281	0.647000	0.38526	5.888000	0.69758	2.637000	0.89404	0.462000	0.41574	ACG		PASS	0.617	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		21	9	21	9	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21445117	21445117	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:21445117C>T	ENST00000307378.6	-	13	2311	c.1591G>A	c.(1591-1593)Gga>Aga	p.G531R	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G529R|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G399R|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G531R|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G399R	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	531					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.G531R(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACCATATATCCAGGTATGGCA	0.388																																						uc001rer.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1591-1593)GGA>AGA		organic anion transporting polypeptide A							26.0	26.0	26.0					12																	21445117		2202	4300	6502	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21445117C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1591G>A	12.37:g.21445117C>T	ENSP00000305974:p.Gly531Arg					SLCO1A2_uc001res.2_Missense_Mutation_p.G531R|SLCO1A2_uc010siq.1_Missense_Mutation_p.G399R|SLCO1A2_uc010sio.1_Missense_Mutation_p.G399R|SLCO1A2_uc010sip.1_Missense_Mutation_p.G399R|SLCO1A2_uc001ret.2_Missense_Mutation_p.G529R	p.G531R	NM_021094	NP_066580	P46721	SO1A2_HUMAN			11	1842	-			531			Helical; Name=10; (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1591G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016392	0.75161	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;1.13	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106318	0.64402	D	0.000004	T	0.79718	0.4494	M	0.88842	2.985	0.54753	D	0.999982	D;D	0.89917	1.0;0.984	D;D	0.83275	0.996;0.947	T	0.81514	-0.0898	10	0.45353	T	0.12	.	16.8549	0.86003	0.0:1.0:0.0:0.0	.	529;531	P46721-2;P46721	.;SO1A2_HUMAN	R	531;531;399;399;529	ENSP00000305974:G531R;ENSP00000393973:G531R;ENSP00000394854:G399R;ENSP00000439401:G399R;ENSP00000375088:G529R	ENSP00000305974:G531R	G	-	1	0	SLCO1A2	21336384	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.820000	0.69250	2.646000	0.89796	0.563000	0.77884	GGA		PASS	0.388	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		10	8	10	8	---	---	---	---
RASSF8	11228	broad.mit.edu	37	12	26217730	26217731	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:26217730_26217731GG>AC	ENST00000405154.2	+	3	602_603	c.403_404GG>AC	c.(403-405)GGt>ACt	p.G135T	RASSF8_ENST00000381352.3_Missense_Mutation_p.G135T|RASSF8_ENST00000282884.9_Missense_Mutation_p.G135T|RASSF8_ENST00000542865.1_Missense_Mutation_p.G135T|RASSF8_ENST00000541490.1_Missense_Mutation_p.G135T	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	135					signal transduction (GO:0007165)			p.G135T(2)|p.G135A(2)|p.G135S(2)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATTTACAGGAGGTGCCAAAGGA	0.411																																						uc001rgx.2																			6	Substitution - Missense(6)		lung(6)		0						c.(403-405)GGT>AGT|c.(403-405)GGT>GCT		Ras association (RalGDS/AF-6) domain family																																				SO:0001583	missense	11228				signal transduction			g.chr12:26217730G>A|g.chr12:26217731G>C	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	Exception_encountered	12.37:g.26217730_26217731delinsAC	ENSP00000384491:p.Gly135Thr					RASSF8_uc001rgy.2_Missense_Mutation_p.G135S|RASSF8_uc001rgz.2_Missense_Mutation_p.G135S|RASSF8_uc009zjd.1_Missense_Mutation_p.G135S|RASSF8_uc009zje.1_Missense_Mutation_p.G135S|RASSF8_uc001rgy.2_Missense_Mutation_p.G135A|RASSF8_uc001rgz.2_Missense_Mutation_p.G135A|RASSF8_uc009zjd.1_Missense_Mutation_p.G135A|RASSF8_uc009zje.1_Missense_Mutation_p.G135A	p.G135S|p.G135A	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	624|625	+	Colorectal(261;0.0847)		135					A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	ENST00000405154.2	37	c.403G>A|c.404G>C	CCDS53765.1																																																																																				PASS	0.411	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		69|70	212|213	69	212	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29911675	29911675	+	Silent	SNP	C	C	T	rs189683080	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:29911675C>T	ENST00000539277.1	-	3	574	c.516G>A	c.(514-516)gcG>gcA	p.A172A	TMTC1_ENST00000551659.1_Silent_p.A172A|TMTC1_ENST00000552618.1_Silent_p.A172A|TMTC1_ENST00000381224.2_Silent_p.A64A|TMTC1_ENST00000256062.5_Silent_p.A64A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	172						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A64A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACAGCAGACACGCTAACACGT	0.428													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19638	0.0		0.001	False		,,,				2504	0.0					uc001rjb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)GCG>GCA		transmembrane and tetratricopeptide repeat							128.0	92.0	104.0					12																	29911675		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29911675C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.516G>A	12.37:g.29911675C>T						TMTC1_uc001rjc.1_Silent_p.A64A	p.A64A	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			3	666	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		172			Helical; (Potential).		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.192G>A	CCDS53772.1																																																																																				PASS	0.428	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		56	38	56	38	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31279291	31279291	+	IGR	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:31279291G>T								RP11-551L14.1 (8886 upstream) : FAM60A (154226 downstream)														p.A1154A(1)									TTAGTTTTGTGGCAGATTGAT	0.423																																						uc010sjy.1																			1	Substitution - coding silent(1)		lung(1)								c.(3460-3462)GCC>GCA		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							179.0	175.0	176.0					12																	31279291		1944	4135	6079	SO:0001628	intergenic_variant	0							g.chr12:31279291G>T																													12.37:g.31279291G>T							p.A1154A							26	3462	-									Silent	SNP		37	c.3462C>A																																																																																				0	PASS	0.423									168	83	168	83	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	33031203	33031203	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:33031203C>A	ENST00000070846.6	-	3	635	c.611G>T	c.(610-612)cGt>cTt	p.R204L	PKP2_ENST00000340811.4_Missense_Mutation_p.R204L	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	204					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.R204L(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGTGCCAGCACGGCTGACCCC	0.602																																						uc001rlj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(610-612)CGT>CTT		plakophilin 2 isoform 2b							134.0	114.0	120.0					12																	33031203		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031203C>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.611G>T	12.37:g.33031203C>A	ENSP00000070846:p.Arg204Leu					PKP2_uc001rlk.3_Missense_Mutation_p.R204L|PKP2_uc010skj.1_Missense_Mutation_p.R204L	p.R204L	NM_004572	NP_004563	Q99959	PKP2_HUMAN			3	726	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		204					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.611G>T	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293582	0.23564	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.80653	-1.4;-1.32	5.35	-2.48	0.06423	.	7779.790000	0.00166	N	0.000000	T	0.60894	0.2304	N	0.17474	0.49	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.50915	-0.8771	10	0.08381	T	0.77	-7.4691	2.7291	0.05222	0.1111:0.3795:0.2256:0.2838	.	204;204;204	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	L	204	ENSP00000342800:R204L;ENSP00000070846:R204L	ENSP00000070846:R204L	R	-	2	0	PKP2	32922470	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.112000	0.10791	-0.305000	0.08831	-0.312000	0.09012	CGT		PASS	0.602	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		93	70	93	70	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41333217	41333217	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:41333217A>G	ENST00000551295.2	+	12	1426	c.1309A>G	c.(1309-1311)Aaa>Gaa	p.K437E	CNTN1_ENST00000547849.1_Missense_Mutation_p.K437E|CNTN1_ENST00000360099.3_Missense_Mutation_p.K437E|CNTN1_ENST00000348761.2_Missense_Mutation_p.K426E|CNTN1_ENST00000547702.1_Missense_Mutation_p.K437E|CNTN1_ENST00000347616.1_Missense_Mutation_p.K437E	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	437	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.K437E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATTGAATGCAAACCTAAAGC	0.403																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1309-1311)AAA>GAA		contactin 1 isoform 1 precursor							96.0	93.0	94.0					12																	41333217		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41333217A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1309A>G	12.37:g.41333217A>G	ENSP00000447006:p.Lys437Glu					CNTN1_uc009zjy.1_Missense_Mutation_p.K437E|CNTN1_uc001rmn.1_Missense_Mutation_p.K426E|CNTN1_uc001rmo.2_Missense_Mutation_p.K437E	p.K437E	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			12	1422	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	437			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1309A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203921	0.79127	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.83	4.83	0.62350	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057660	0.64402	D	0.000001	T	0.68495	0.3007	L	0.31207	0.915	0.43787	D	0.996329	P;P;P	0.51933	0.944;0.881;0.949	P;P;P	0.58620	0.842;0.511;0.771	T	0.66976	-0.5787	10	0.32370	T	0.25	.	15.1084	0.72336	1.0:0.0:0.0:0.0	.	437;426;437	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	E	437;437;437;437;437;426	ENSP00000448004:K437E;ENSP00000447006:K437E;ENSP00000448653:K437E;ENSP00000325660:K437E;ENSP00000353213:K437E;ENSP00000261160:K426E	ENSP00000325660:K437E	K	+	1	0	CNTN1	39619484	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.596000	0.54024	2.112000	0.64535	0.459000	0.35465	AAA		PASS	0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		24	47	24	47	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41900384	41900384	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:41900384G>T	ENST00000402685.2	+	4	978	c.970G>T	c.(970-972)Gct>Tct	p.A324S	PDZRN4_ENST00000298919.7_Missense_Mutation_p.A64S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.A66S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	324							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A324S(1)|p.A66S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTATGGGATGGCTTCAGAAGT	0.537																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(373-375)GCT>TCT		PDZ domain containing RING finger 4 isoform 2							152.0	125.0	134.0					12																	41900384		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41900384G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.970G>T	12.37:g.41900384G>T	ENSP00000384197:p.Ala324Ser					PDZRN4_uc001rmq.3_Missense_Mutation_p.A66S|PDZRN4_uc009zjz.2_Missense_Mutation_p.A64S|PDZRN4_uc001rmr.2_5'Flank	p.A125S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			4	441	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	324					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.373G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	0.126	-1.118951	0.01785	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.71817	-0.6;3.79;3.8	5.08	-2.0	0.07433	PDZ/DHR/GLGF (1);	1.364760	0.04535	N	0.387046	T	0.41282	0.1152	N	0.08118	0	0.09310	N	1	B;B;B	0.14805	0.011;0.004;0.0	B;B;B	0.10450	0.002;0.005;0.005	T	0.20438	-1.0275	10	0.09590	T	0.72	-0.0016	0.0074	0.00000	0.2955:0.1989:0.1982:0.3075	.	324;64;66	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	S	324;66;64	ENSP00000384197:A324S;ENSP00000439990:A66S;ENSP00000298919:A64S	ENSP00000298919:A64S	A	+	1	0	PDZRN4	40186651	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.091000	0.11146	-0.151000	0.11176	-0.251000	0.11542	GCT		PASS	0.537	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		23	85	23	85	---	---	---	---
GXYLT1	283464	broad.mit.edu	37	12	42491380	42491380	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:42491380C>A	ENST00000398675.3	-	7	1257	c.1025G>T	c.(1024-1026)cGa>cTa	p.R342L	GXYLT1_ENST00000280876.6_Missense_Mutation_p.R311L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	342					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.R311L(1)|p.R342L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATGATCTGGTCGATAATTCCA	0.368																																						uc001rms.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1024-1026)CGA>CTA		glycosyltransferase 8 domain containing 3							133.0	127.0	129.0					12																	42491380		1853	4097	5950	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42491380C>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1025G>T	12.37:g.42491380C>A	ENSP00000381666:p.Arg342Leu					GXYLT1_uc001rmt.3_Missense_Mutation_p.R311L	p.R342L	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN			7	1250	-			342			Lumenal (Potential).		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.1025G>T	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880202	0.72294	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.38077	1.16;1.16	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	M	0.86502	2.82	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.71870	0.93;0.975	T	0.70669	-0.4808	10	0.52906	T	0.07	-16.4222	15.1999	0.73126	0.0:0.9325:0.0:0.0675	.	311;342	Q4G148-2;Q4G148	.;GXLT1_HUMAN	L	342;311	ENSP00000381666:R342L;ENSP00000280876:R311L	ENSP00000280876:R311L	R	-	2	0	GXYLT1	40777647	1.000000	0.71417	0.975000	0.42487	0.502000	0.33828	7.745000	0.85046	1.487000	0.48415	-0.186000	0.12905	CGA		PASS	0.368	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		83	76	83	76	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245335	46245335	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:46245335G>A	ENST00000334344.6	+	15	3601	c.3429G>A	c.(3427-3429)gtG>gtA	p.V1143V	ARID2_ENST00000422737.1_Silent_p.V994V|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.V753V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1143					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.V1143V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACAAACTGTGCCCATTTCGA	0.498			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3427-3429)GTG>GTA		AT rich interactive domain 2 (ARID, RFX-like)							94.0	90.0	92.0					12																	46245335		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245335G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3429G>A	12.37:g.46245335G>A						ARID2_uc001ror.2_Silent_p.V1143V|ARID2_uc009zkg.1_Silent_p.V599V|ARID2_uc009zkh.1_Silent_p.V770V|ARID2_uc001rou.1_Silent_p.V477V	p.V1143V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3429	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1143					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.3429G>A	CCDS31783.1																																																																																				PASS	0.498	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		48	120	48	120	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53853162	53853162	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:53853162G>T	ENST00000439930.3	+	5	372	c.350G>T	c.(349-351)gGa>gTa	p.G117V	PCBP2_ENST00000552296.2_Missense_Mutation_p.G117V|PCBP2_ENST00000552819.1_Missense_Mutation_p.G117V|PCBP2_ENST00000437231.1_Missense_Mutation_p.G117V|PCBP2_ENST00000359282.5_Missense_Mutation_p.G117V|PCBP2_ENST00000549863.1_Missense_Mutation_p.G117V|PCBP2_ENST00000455667.3_Missense_Mutation_p.G117V|PCBP2_ENST00000447282.1_Missense_Mutation_p.G117V|PCBP2_ENST00000603815.1_Missense_Mutation_p.G117V|PCBP2_ENST00000541275.1_Missense_Mutation_p.G117V|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359462.5_Missense_Mutation_p.G117V|PCBP2_ENST00000548933.1_Missense_Mutation_p.G117V|PCBP2_ENST00000546463.1_Missense_Mutation_p.G117V			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	117	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.G117V(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGAAAAGGTGGATGCAAGATC	0.468																																						uc001sdl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)GGA>GTA		poly(rC) binding protein 2 isoform d							144.0	134.0	137.0					12																	53853162		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53853162G>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.350G>T	12.37:g.53853162G>T	ENSP00000408949:p.Gly117Val					PCBP2_uc001sdc.3_Missense_Mutation_p.G117V|PCBP2_uc001sdb.3_Missense_Mutation_p.G117V|PCBP2_uc001sde.3_Missense_Mutation_p.G117V|PCBP2_uc001sdi.3_Missense_Mutation_p.G117V|PCBP2_uc001sdd.3_Missense_Mutation_p.G117V|PCBP2_uc001sdf.3_Missense_Mutation_p.G117V|PCBP2_uc009zna.2_Missense_Mutation_p.G78V|PCBP2_uc010soh.1_Missense_Mutation_p.G117V|PCBP2_uc009zmz.1_Missense_Mutation_p.G59V|PCBP2_uc001sdg.1_RNA	p.G117V	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			6	700	+			117			KH 2.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.350G>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939051	0.73557	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94184	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-3.37;-1.91;-1.91;-1.91;-1.91;-1.91	4.83	3.93	0.45458	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.051032	0.85682	D	0.000000	D	0.98229	0.9414	H	0.99368	4.535	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.989;0.998;0.997;0.998;0.996;0.997;0.998;0.997	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.976;0.995;0.995;0.975;0.991;0.995;0.995;0.995	D	0.98922	1.0784	10	0.87932	D	0	.	14.0569	0.64774	0.0:0.1527:0.8473:0.0	.	117;78;117;117;117;117;117;117;117	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	V	117;117;117;117;117;117;117;59;117;117;109;117;78;117;117;117;98;79	ENSP00000446130:G117V;ENSP00000352228:G117V;ENSP00000394116:G117V;ENSP00000390304:G117V;ENSP00000408949:G117V;ENSP00000447670:G117V;ENSP00000352438:G117V;ENSP00000448762:G117V;ENSP00000446601:G117V;ENSP00000448847:G109V;ENSP00000448927:G117V;ENSP00000449070:G117V;ENSP00000388008:G117V;ENSP00000449062:G117V	ENSP00000352228:G117V	G	+	2	0	PCBP2	52139429	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.436000	0.97532	1.220000	0.43490	-0.176000	0.13171	GGA		PASS	0.468	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		56	66	56	66	---	---	---	---
HOXC8	3224	broad.mit.edu	37	12	54403503	54403503	+	Splice_Site	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:54403503C>A	ENST00000040584.4	+	1	672	c.435C>A	c.(433-435)caC>caA	p.H145Q	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	145					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H145Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TGAGACCCCACGGTGAGAAGC	0.552																																					GBM(197;701 2226 7002 18822 41696)	uc001ser.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)CAC>CAA		homeobox C8							100.0	98.0	99.0					12																	54403503		2203	4300	6503	SO:0001630	splice_region_variant	3224					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54403503C>A	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.436+1C>A	12.37:g.54403503C>A							p.H145Q	NM_022658	NP_073149	P31273	HXC8_HUMAN			1	614	+			145					A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	c.435C>A	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	C	7.741	0.701359	0.15172	.	.	ENSG00000037965	ENST00000040584	T	0.40225	1.04	4.01	4.01	0.46588	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	N	0.21545	0.675	0.80722	D	1	D	0.61697	0.99	P	0.54372	0.75	T	0.10314	-1.0635	10	0.02654	T	1	.	15.4245	0.75041	0.0:1.0:0.0:0.0	.	145	P31273	HXC8_HUMAN	Q	145	ENSP00000040584:H145Q	ENSP00000040584:H145Q	H	+	3	2	HOXC8	52689770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.851000	0.39338	2.254000	0.74563	0.462000	0.41574	CAC		PASS	0.552	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2		Missense_Mutation	64	78	64	78	---	---	---	---
FAM19A2	338811	broad.mit.edu	37	12	62147453	62147453	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:62147453C>A	ENST00000416284.3	-	4	1918	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Missense_Mutation_p.D15Y|FAM19A2_ENST00000551619.1_Missense_Mutation_p.D112Y	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	112						cytoplasm (GO:0005737)		p.D112Y(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CCTTTCCGATCCGGAAGAACT	0.413																																						uc001sqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)GAT>TAT		family with sequence similarity 19 (chemokine							129.0	115.0	120.0					12																	62147453		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62147453C>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.334G>T	12.37:g.62147453C>A	ENSP00000393987:p.Asp112Tyr					FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.D112Y|FAM19A2_uc001sqy.2_RNA	p.D112Y	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	4	1847	-			112					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.334G>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527938	0.64860	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000550003	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81077	-0.1096	8	.	.	.	.	17.5418	0.87850	0.0:1.0:0.0:0.0	.	112	Q8N3H0	F19A2_HUMAN	Y	112;112;15	.	.	D	-	1	0	FAM19A2	60433720	1.000000	0.71417	0.879000	0.34478	0.907000	0.53573	7.680000	0.84062	2.145000	0.66743	0.557000	0.71058	GAT		PASS	0.413	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		35	102	35	102	---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76767136	76767136	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:76767136C>A	ENST00000261183.3	-	18	2384	c.1905G>T	c.(1903-1905)ttG>ttT	p.L635F	OSBPL8_ENST00000393250.4_Missense_Mutation_p.L593F|OSBPL8_ENST00000393249.2_Missense_Mutation_p.L593F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	635					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.L635F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AATGACCTTCCAAAGTAGCTA	0.303																																						uc001sye.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1903-1905)TTG>TTT		oxysterol-binding protein-like protein 8 isoform							89.0	87.0	88.0					12																	76767136		2203	4298	6501	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76767136C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1905G>T	12.37:g.76767136C>A	ENSP00000261183:p.Leu635Phe					OSBPL8_uc001syf.1_Missense_Mutation_p.L593F|OSBPL8_uc001syg.1_Missense_Mutation_p.L593F|OSBPL8_uc001syh.1_Missense_Mutation_p.L610F	p.L635F	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			18	2385	-			635					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.1905G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511759	0.44660	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000002	T	0.53302	0.1788	M	0.76727	2.345	0.46749	D	0.999185	B;P	0.51240	0.365;0.943	B;P	0.59221	0.372;0.854	T	0.55842	-0.8077	10	0.59425	D	0.04	-5.2508	10.297	0.43629	0.0:0.8453:0.0:0.1547	.	610;635	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	F	593;635;620;593;635;635;610	ENSP00000376939:L593F;ENSP00000261183:L635F;ENSP00000376940:L593F;ENSP00000450238:L635F;ENSP00000447893:L610F	ENSP00000261183:L635F	L	-	3	2	OSBPL8	75291267	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	1.051000	0.30417	2.450000	0.82876	0.585000	0.79938	TTG		PASS	0.303	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		25	88	25	88	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78444708	78444708	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:78444708G>T	ENST00000397909.2	+	11	2470	c.2297G>T	c.(2296-2298)aGt>aTt	p.S766I	NAV3_ENST00000536525.2_Missense_Mutation_p.S766I|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.S766I|NAV3_ENST00000266692.7_Missense_Mutation_p.S766I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	766						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S766I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATCCTCGCAGTGGTACCAGT	0.587										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2296-2298)AGT>ATT		neuron navigator 3							68.0	70.0	69.0					12																	78444708		2061	4201	6262	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444708G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2297G>T	12.37:g.78444708G>T	ENSP00000381007:p.Ser766Ile	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S766I|NAV3_uc010sub.1_Missense_Mutation_p.S266I	p.S766I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2470	+			766					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2297G>T		.	.	.	.	.	.	.	.	.	.	G	14.61	2.587928	0.46110	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.79	5.79	0.91817	.	0.000000	0.47852	U	0.000217	T	0.14743	0.0356	L	0.34521	1.04	0.80722	D	1	P;P;P	0.47302	0.729;0.893;0.773	B;B;B	0.40165	0.317;0.321;0.219	T	0.00950	-1.1503	10	0.54805	T	0.06	-18.034	13.2603	0.60101	0.0724:0.0:0.9276:0.0	.	766;766;766	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	I	766	ENSP00000446132:S766I;ENSP00000381007:S766I;ENSP00000228327:S766I;ENSP00000266692:S766I	ENSP00000228327:S766I	S	+	2	0	NAV3	76968839	1.000000	0.71417	0.932000	0.37286	0.399000	0.30720	4.480000	0.60243	2.735000	0.93741	0.655000	0.94253	AGT		PASS	0.587	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	38	10	38	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85517965	85517965	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:85517965A>T	ENST00000393217.2	+	17	3736	c.3675A>T	c.(3673-3675)aaA>aaT	p.K1225N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1225								p.K1225N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCACCAAGAAAGATGAATCAG	0.413																																						uc001tac.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3673-3675)AAA>AAT		leucine-rich repeats and IQ motif containing 1							98.0	103.0	101.0					12																	85517965		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85517965A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3675A>T	12.37:g.85517965A>T	ENSP00000376910:p.Lys1225Asn					LRRIQ1_uc001tab.1_Missense_Mutation_p.K1225N	p.K1225N	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	3786	+			1225					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3675A>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	8.158	0.788855	0.16258	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.53206	0.63	5.61	-1.27	0.09347	.	0.642901	0.15865	N	0.240814	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.08055	0.003;0.003	T	0.08249	-1.0731	10	0.27785	T	0.31	.	1.2875	0.02053	0.4976:0.1397:0.2283:0.1345	.	1225;1200	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	1225;1200;1225	ENSP00000376910:K1225N	ENSP00000256007:K1225N	K	+	3	2	LRRIQ1	84042096	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.464000	0.21988	-0.141000	0.11374	-0.334000	0.08254	AAA		PASS	0.413	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		21	75	21	75	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100957235	100957235	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:100957235C>A	ENST00000551379.1	+	9	1457	c.1429C>A	c.(1429-1431)Cca>Aca	p.P477T	NR1H4_ENST00000392986.3_Missense_Mutation_p.P467T|NR1H4_ENST00000548884.1_Missense_Mutation_p.P463T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P416T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P473T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	477					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P463T(1)|p.P477T(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CAAGTTTACCCCACTTCTCTG	0.468																																						uc001tht.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1429-1431)CCA>ACA		nuclear receptor subfamily 1, group H, member 4							112.0	108.0	109.0					12																	100957235		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100957235C>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1429C>A	12.37:g.100957235C>A	ENSP00000447149:p.Pro477Thr					NR1H4_uc001thp.1_Missense_Mutation_p.P463T|NR1H4_uc001thq.1_Missense_Mutation_p.P467T|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.P467T|NR1H4_uc010svk.1_Missense_Mutation_p.P416T|NR1H4_uc001ths.1_Missense_Mutation_p.P473T	p.P477T	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			9	1457	+			477					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.1429C>A	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789008	0.49997	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.59	5.59	0.84812	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.98409	0.9471	M	0.87547	2.89	0.80722	D	1	D;B;D;D;P	0.89917	1.0;0.4;1.0;1.0;0.929	D;B;D;D;P	0.91635	0.999;0.219;0.999;0.999;0.73	D	0.98698	1.0699	10	0.62326	D	0.03	.	19.96	0.97242	0.0:1.0:0.0:0.0	.	416;477;473;467;463	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	T	463;467;416;477;473	ENSP00000448506:P463T;ENSP00000376712:P467T;ENSP00000448978:P416T;ENSP00000447149:P477T;ENSP00000188403:P473T	ENSP00000188403:P473T	P	+	1	0	NR1H4	99481366	1.000000	0.71417	0.964000	0.40570	0.270000	0.26580	7.744000	0.85034	2.793000	0.96121	0.561000	0.74099	CCA		PASS	0.468	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		128	101	128	101	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104056721	104056721	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:104056721C>T	ENST00000388887.2	+	18	2171	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F		NM_017564.9	NP_060034.9			stabilin 2									p.S656F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTCCTCCCTCCATTGTCCCG	0.453																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(1966-1968)TCC>TTC		stabilin 2 precursor							147.0	141.0	143.0					12																	104056721		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104056721C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1967C>T	12.37:g.104056721C>T	ENSP00000373539:p.Ser656Phe						p.S656F	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			18	2153	+			656			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.1967C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564826	0.65651	.	.	ENSG00000136011	ENST00000388887	T	0.66995	-0.24	5.31	5.31	0.75309	FAS1 domain (2);	0.062961	0.64402	D	0.000004	T	0.82098	0.4963	M	0.79475	2.455	0.51233	D	0.999919	D	0.76494	0.999	D	0.67231	0.95	D	0.84493	0.0612	10	0.87932	D	0	.	18.6129	0.91293	0.0:1.0:0.0:0.0	.	656	Q8WWQ8	STAB2_HUMAN	F	656	ENSP00000373539:S656F	ENSP00000373539:S656F	S	+	2	0	STAB2	102580851	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.475000	0.73582	2.478000	0.83669	0.655000	0.94253	TCC		PASS	0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			72	60	72	60	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104129294	104129294	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:104129294C>G	ENST00000388887.2	+	52	5690	c.5486C>G	c.(5485-5487)tCc>tGc	p.S1829C		NM_017564.9	NP_060034.9			stabilin 2									p.S1829C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTTCCCACATCCACTGCCTGG	0.552																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(5485-5487)TCC>TGC		stabilin 2 precursor							72.0	60.0	64.0					12																	104129294		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104129294C>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5486C>G	12.37:g.104129294C>G	ENSP00000373539:p.Ser1829Cys					STAB2_uc009zug.2_RNA	p.S1829C	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			52	5672	+			1829			Extracellular (Potential).|FAS1 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5486C>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315944	0.40996	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.91894	-2.93	5.26	1.96	0.26148	FAS1 domain (5);	1.332060	0.05040	N	0.476072	D	0.93249	0.7849	M	0.67397	2.05	0.09310	N	1	D	0.55172	0.97	P	0.54499	0.754	T	0.80804	-0.1219	10	0.52906	T	0.07	.	5.165	0.15081	0.0:0.5892:0.1754:0.2354	.	1829	Q8WWQ8	STAB2_HUMAN	C	1829;516	ENSP00000373539:S1829C	ENSP00000258495:S516C	S	+	2	0	STAB2	102653424	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.745000	0.26259	0.598000	0.29829	0.455000	0.32223	TCC		PASS	0.552	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	19	7	19	---	---	---	---
ALDH1L2	160428	broad.mit.edu	37	12	105445870	105445870	+	Silent	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:105445870A>G	ENST00000258494.9	-	12	1673	c.1533T>C	c.(1531-1533)taT>taC	p.Y511Y	ALDH1L2_ENST00000424857.2_Silent_p.Y511Y	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	511	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.Y511Y(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						aGAAATACCTATACATCAATC	0.388																																						uc001tlc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1531-1533)TAT>TAC		aldehyde dehydrogenase 1 family, member L2							89.0	87.0	87.0					12																	105445870		2203	4300	6503	SO:0001819	synonymous_variant	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105445870A>G	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1533T>C	12.37:g.105445870A>G						ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	p.Y511Y	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			12	1660	-			511			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	c.1533T>C	CCDS31891.1																																																																																				PASS	0.388	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		17	61	17	61	---	---	---	---
CKAP4	10970	broad.mit.edu	37	12	106633568	106633568	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:106633568G>A	ENST00000378026.4	-	2	1179	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	348			A -> T (in dbSNP:rs3088113).			cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.A348V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GGCCTGCAGGGCGAGCCGCTC	0.642																																						uc001tlk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)GCC>GTC		cytoskeleton-associated protein 4							22.0	24.0	24.0					12																	106633568		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633568G>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1043C>T	12.37:g.106633568G>A	ENSP00000367265:p.Ala348Val						p.A348V	NM_006825	NP_006816	Q07065	CKAP4_HUMAN			2	1127	-			348			Potential.		Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.1043C>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042411	0.35989	.	.	ENSG00000136026	ENST00000378026	T	0.42131	0.98	5.82	5.82	0.92795	.	0.409690	0.28583	N	0.014839	T	0.37625	0.1010	L	0.43152	1.355	0.09310	N	1	B	0.22003	0.063	B	0.21151	0.033	T	0.17289	-1.0374	10	0.32370	T	0.25	-23.6109	15.5745	0.76365	0.0:0.1371:0.8629:0.0	.	348	Q07065	CKAP4_HUMAN	V	348	ENSP00000367265:A348V	ENSP00000367265:A348V	A	-	2	0	CKAP4	105157698	0.987000	0.35691	0.627000	0.29227	0.993000	0.82548	4.204000	0.58460	2.756000	0.94617	0.563000	0.77884	GCC		PASS	0.642	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			15	15	15	15	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169080	108169080	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:108169080G>A	ENST00000342331.4	+	1	919	c.88G>A	c.(88-90)Gga>Aga	p.G30R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	29					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G29R(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GACCCTGCCCGGACTCCCGCG	0.716																																					GBM(170;776 3695 11650)	uc001tmr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(88-90)GGA>AGA		achaete-scute complex-like 4							30.0	36.0	34.0					12																	108169080		2198	4295	6493	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169080G>A	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.88G>A	12.37:g.108169080G>A	ENSP00000345420:p.Gly30Arg						p.G30R	NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN			1	919	+			29					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.88G>A	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	G	1.443	-0.567093	0.03910	.	.	ENSG00000187855	ENST00000342331	D	0.95918	-3.85	4.11	2.21	0.28008	.	1.023530	0.07798	N	0.956084	D	0.88295	0.6398	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.71636	-0.4533	10	0.15952	T	0.53	-20.703	13.8631	0.63573	0.0:0.41:0.59:0.0	.	29	Q6XD76	ASCL4_HUMAN	R	30	ENSP00000345420:G30R	ENSP00000345420:G30R	G	+	1	0	ASCL4	106693210	0.113000	0.22115	0.004000	0.12327	0.052000	0.14988	0.859000	0.27858	0.305000	0.22832	-0.494000	0.04653	GGA		PASS	0.716	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		31	87	31	87	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113612523	113612523	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:113612523C>A	ENST00000306014.5	-	10	1017	c.990G>T	c.(988-990)ctG>ctT	p.L330L	DDX54_ENST00000314045.7_Silent_p.L330L	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	330	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.L330L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGTTGTGCAGCAGGTGGAGCA	0.647											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tup.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(988-990)CTG>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							75.0	68.0	70.0					12																	113612523		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113612523C>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.990G>T	12.37:g.113612523C>A			OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451	DDX54_uc001tuq.3_Silent_p.L330L	p.L330L	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			10	1018	-			330			Helicase C-terminal.		Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.990G>T	CCDS31907.1																																																																																				PASS	0.647	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		25	56	25	56	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122745859	122745859	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:122745859G>A	ENST00000267199.4	-	4	544	c.432C>T	c.(430-432)ctC>ctT	p.L144L	RP11-512M8.5_ENST00000535844.1_Silent_p.L144L|VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Silent_p.L144L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	144					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)		p.L144L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGAATGGAATGAGATCTAAGC	0.453																																						uc001ucd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(430-432)CTC>CTT		vacuolar protein sorting 33A							124.0	108.0	113.0					12																	122745859		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122745859G>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.432C>T	12.37:g.122745859G>A						VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Silent_p.L144L	p.L144L	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	4	545	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		144					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.432C>T	CCDS9231.1																																																																																				PASS	0.453	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			44	84	44	84	---	---	---	---
CRYL1	51084	broad.mit.edu	37	13	20987499	20987499	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr13:20987499C>A	ENST00000298248.7	-	6	723	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	CRYL1_ENST00000382812.1_Missense_Mutation_p.D199Y	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	221					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)	p.D221Y(1)		NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		ATGACAAGGTCCAGGTCACTA	0.483																																						uc001une.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)GAC>TAC		lambda-crystallin							116.0	113.0	114.0					13																	20987499		1968	4153	6121	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:20987499C>A	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.661G>T	13.37:g.20987499C>A	ENSP00000298248:p.Asp221Tyr					CRYL1_uc001unf.2_Missense_Mutation_p.D199Y|CRYL1_uc001ung.2_Missense_Mutation_p.D199Y	p.D221Y	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	6	740	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	221					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.661G>T	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918702	0.33908	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	D;D	0.97455	-4.39;-4.39	5.11	5.11	0.69529	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.048793	0.85682	D	0.000000	D	0.99158	0.9709	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98951	1.0794	10	0.87932	D	0	-45.2247	17.3171	0.87227	0.0:1.0:0.0:0.0	.	221	Q9Y2S2	CRYL1_HUMAN	Y	221;199	ENSP00000298248:D221Y;ENSP00000372262:D199Y	ENSP00000298248:D221Y	D	-	1	0	CRYL1	19885499	1.000000	0.71417	0.951000	0.38953	0.114000	0.19823	6.264000	0.72527	2.371000	0.80710	0.561000	0.74099	GAC		PASS	0.483	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		30	10	30	10	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42871185	42871185	+	Splice_Site	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr13:42871185A>G	ENST00000025301.2	+	6	393	c.218A>G	c.(217-219)gAt>gGt	p.D73G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	73					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.D73G(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTAAATCAGGATTTAGCTGCA	0.303																																						uc001uys.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(217-219)GAT>GGT		A-kinase anchor protein 11							58.0	64.0	62.0					13																	42871185		2191	4284	6475	SO:0001630	splice_region_variant	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42871185A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.217-1A>G	13.37:g.42871185A>G							p.D73G	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	6	393	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	73					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.218A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552922	0.86127	.	.	ENSG00000023516	ENST00000025301	T	0.15017	2.46	5.92	5.92	0.95590	.	0.115649	0.56097	D	0.000023	T	0.35393	0.0930	L	0.47716	1.5	0.50313	D	0.999869	D	0.76494	0.999	D	0.67548	0.952	T	0.02893	-1.1097	10	0.62326	D	0.03	.	16.371	0.83361	1.0:0.0:0.0:0.0	.	73	Q9UKA4	AKA11_HUMAN	G	73	ENSP00000025301:D73G	ENSP00000025301:D73G	D	+	2	0	AKAP11	41769185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.494000	0.60347	2.267000	0.75376	0.477000	0.44152	GAT		PASS	0.303	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	Missense_Mutation	88	40	88	40	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77644818	77644818	+	Missense_Mutation	SNP	T	T	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr13:77644818T>G	ENST00000544440.2	-	69	11755	c.11738A>C	c.(11737-11739)cAt>cCt	p.H3913P	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3913P|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H3951P					MYC binding protein 2, E3 ubiquitin protein ligase									p.E3913A(1)|p.H3951P(1)|p.H3913P(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)		TCCAACCATATGTTCTTTCAG	0.313																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(11737-11739)CAT>CCT		MYC binding protein 2							224.0	208.0	214.0					13																	77644818		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77644818T>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.11738A>C	13.37:g.77644818T>G	ENSP00000444596:p.His3913Pro					MYCBP2_uc010aev.2_Missense_Mutation_p.H3317P|MYCBP2_uc001vke.2_Missense_Mutation_p.H530P	p.H3913P	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	70	11829	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3913						Missense_Mutation	SNP	ENST00000544440.2	37	c.11738A>C		.	.	.	.	.	.	.	.	.	.	T	19.06	3.753645	0.69648	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.36520	1.25;1.25;1.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	M	0.71036	2.16	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	T	0.62854	-0.6766	10	0.87932	D	0	.	15.1695	0.72858	0.0:0.0:0.0:1.0	.	3913	O75592	MYCB2_HUMAN	P	3913;3951;3913	ENSP00000349892:H3913P;ENSP00000384288:H3951P;ENSP00000444596:H3913P	ENSP00000349892:H3913P	H	-	2	0	MYCBP2	76542819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.660000	0.83776	2.172000	0.68678	0.533000	0.62120	CAT		PASS	0.313	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		95	37	95	37	---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	97484966	97484966	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr13:97484966G>C	ENST00000376705.2	+	2	954	c.930G>C	c.(928-930)caG>caC	p.Q310H		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	310					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.Q310H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ACAATCGCCAGGTGCGCATGC	0.537																																						uc001vmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(928-930)CAG>CAC		heparan sulfate 6-O-sulfotransferase 3							76.0	70.0	72.0					13																	97484966		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97484966G>C	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.930G>C	13.37:g.97484966G>C	ENSP00000365895:p.Gln310His						p.Q310H	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	954	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		310			Lumenal (Potential).		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.930G>C	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356548	0.61293	.	.	ENSG00000185352	ENST00000376705	T	0.65364	-0.15	5.65	0.775	0.18527	.	0.123293	0.56097	D	0.000038	T	0.79143	0.4396	M	0.90082	3.085	0.51233	D	0.999911	D	0.76494	0.999	D	0.87578	0.998	T	0.78401	-0.2218	10	0.87932	D	0	-24.942	9.1447	0.36925	0.4455:0.0:0.5545:0.0	.	310	Q8IZP7	H6ST3_HUMAN	H	310	ENSP00000365895:Q310H	ENSP00000365895:Q310H	Q	+	3	2	HS6ST3	96282967	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.447000	0.44917	0.026000	0.15269	0.650000	0.86243	CAG		PASS	0.537	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		52	14	52	14	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295781	20295781	+	Silent	SNP	C	C	A	rs562320902		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:20295781C>A	ENST00000315947.1	+	1	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P	OR4N2_ENST00000568211.1_Silent_p.P58P	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACAGCCCCCCTCTATTTCT	0.463																																						uc010tkv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(172-174)CCC>CCA		olfactory receptor, family 4, subfamily N,																																				SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295781C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.174C>A	14.37:g.20295781C>A							p.P58P	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	174	+	all_cancers(95;0.00108)		58			Helical; Name=2; (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.174C>A	CCDS32022.1																																																																																				PASS	0.463	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			148	291	148	291	---	---	---	---
OR4K2	390431	broad.mit.edu	37	14	20345187	20345187	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:20345187G>T	ENST00000298642.2	+	1	797	c.761G>T	c.(760-762)tGc>tTc	p.C254F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C254F(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGGGCCATGCATCTTCATC	0.418																																						uc001vwh.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(760-762)TGC>TTC		olfactory receptor, family 4, subfamily K,							191.0	179.0	183.0					14																	20345187		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345187G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.761G>T	14.37:g.20345187G>T	ENSP00000298642:p.Cys254Phe						p.C254F	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	761	+	all_cancers(95;0.00108)		254			Helical; Name=6; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.761G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.540007	0.45176	.	.	ENSG00000165762	ENST00000298642	T	0.00107	8.72	5.16	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000045	T	0.00384	0.0012	M	0.73753	2.245	0.19300	N	0.999976	B	0.30281	0.275	P	0.50754	0.649	T	0.12785	-1.0534	10	0.66056	D	0.02	.	10.9866	0.47526	0.0:0.0:0.6926:0.3074	.	254	Q8NGD2	OR4K2_HUMAN	F	254	ENSP00000298642:C254F	ENSP00000298642:C254F	C	+	2	0	OR4K2	19415027	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.339000	0.07832	2.681000	0.91329	0.591000	0.81541	TGC		PASS	0.418	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			112	170	112	170	---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24045142	24045142	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:24045142G>T	ENST00000397118.3	-	4	1805	c.903C>A	c.(901-903)aaC>aaA	p.N301K	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.N301K	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	301					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.N301K(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCGCAGCCCGTTGGAGCGCT	0.746																																						uc001wkq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(901-903)AAC>AAA		junctophilin 4							7.0	8.0	8.0					14																	24045142		1798	3677	5475	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24045142G>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.903C>A	14.37:g.24045142G>T	ENSP00000380307:p.Asn301Lys					JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.N301K|JPH4_uc001wks.2_Missense_Mutation_p.N301K	p.N301K	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	1821	-	all_cancers(95;0.000251)		301			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.903C>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860597	0.51482	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.59364	0.27;0.27	3.81	2.8	0.32819	.	.	.	.	.	T	0.55593	0.1930	L	0.54965	1.715	0.31586	N	0.654479	P;P	0.49090	0.546;0.919	B;P	0.49421	0.238;0.61	T	0.63171	-0.6697	9	0.72032	D	0.01	.	4.4614	0.11668	0.2746:0.0:0.7254:0.0	.	301;301	A8K396;Q96JJ6	.;JPH4_HUMAN	K	301;301;301;302	ENSP00000348648:N301K;ENSP00000380307:N301K	ENSP00000267407:N302K	N	-	3	2	JPH4	23114982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.213000	0.32407	1.943000	0.56356	0.461000	0.40582	AAC		PASS	0.746	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		7	1	7	1	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53619450	53619450	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:53619450G>A	ENST00000323669.5	-	1	366	c.367C>T	c.(367-369)Cct>Tct	p.P123S	DDHD1_ENST00000357758.3_Missense_Mutation_p.P123S|DDHD1_ENST00000395606.1_Missense_Mutation_p.P123S|AL356020.1_ENST00000584587.1_RNA|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	123					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P123S(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ACCAGCGGAGGCTGCTGCGGC	0.746																																						uc001xai.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(367-369)CCT>TCT		DDHD domain containing 1 isoform c																																				SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619450G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.367C>T	14.37:g.53619450G>A	ENSP00000327104:p.Pro123Ser					DDHD1_uc001xaj.2_Missense_Mutation_p.P123S|DDHD1_uc001xah.2_Missense_Mutation_p.P123S	p.P123S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			1	597	-	Breast(41;0.037)		123					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.367C>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731900	0.30684	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	2.94	-1.6	0.08426	.	0.740503	0.11108	U	0.598881	T	0.17152	0.0412	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30686	0.29;0.084;0.004	B;B;B	0.30782	0.12;0.063;0.003	T	0.26677	-1.0096	9	0.12766	T	0.61	-0.2247	3.0701	0.06227	0.1907:0.3849:0.3132:0.1112	.	123;123;123	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	S	123	.	ENSP00000327104:P123S	P	-	1	0	DDHD1	52689200	0.981000	0.34729	0.011000	0.14972	0.802000	0.45316	0.342000	0.19926	0.032000	0.15435	-0.372000	0.07161	CCT		PASS	0.746	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			9	1	9	1	---	---	---	---
ZBTB1	22890	broad.mit.edu	37	14	64988813	64988813	+	Silent	SNP	C	C	T	rs376564161		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:64988813C>T	ENST00000554015.1	+	4	1022	c.591C>T	c.(589-591)tcC>tcT	p.S197S	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Silent_p.S197S|ZBTB1_ENST00000394712.2_Silent_p.S197S			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	197					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S197S(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AAAAAAGTTCCGTGTCCAAAT	0.378																																						uc001xhh.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(589-591)TCC>TCT		zinc finger and BTB domain containing 1 isoform		C	,	0,4406		0,0,2203	87.0	89.0	88.0		591,591	-8.9	0.9	14		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZBTB1	NM_001123329.1,NM_014950.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	197/714,197/645	64988813	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988813C>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.591C>T	14.37:g.64988813C>T						ZBTB1_uc010aqg.2_Silent_p.S197S|ZBTB1_uc001xhi.2_Silent_p.S197S	p.S197S	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	1022	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	197					A8K6S8|Q86SW8	Silent	SNP	ENST00000554015.1	37	c.591C>T	CCDS45126.1																																																																																				PASS	0.378	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			72	29	72	29	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94004430	94004430	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:94004430G>T	ENST00000393151.2	+	12	1218	c.1218G>T	c.(1216-1218)agG>agT	p.R406S	UNC79_ENST00000553484.1_Missense_Mutation_p.R406S|UNC79_ENST00000555664.1_Missense_Mutation_p.R406S|UNC79_ENST00000256339.4_Missense_Mutation_p.R229S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	406					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R406S(1)|p.R229S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGCAAGAGGTGCCACTCAA	0.567																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(685-687)AGG>AGT		hypothetical protein LOC57578							77.0	71.0	73.0					14																	94004430		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94004430G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1218G>T	14.37:g.94004430G>T	ENSP00000376858:p.Arg406Ser					KIAA1409_uc001ybs.1_Missense_Mutation_p.R229S|KIAA1409_uc001ybu.1_Missense_Mutation_p.R167S	p.R229S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	9	770	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	406					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.687G>T		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683695	0.68157	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.6	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	L	0.36672	1.1	0.40965	D	0.984654	D;D	0.63046	0.992;0.981	D;D	0.71656	0.974;0.962	T	0.01553	-1.1326	10	0.49607	T	0.09	-14.7746	8.7448	0.34580	0.5043:0.1032:0.3926:0.0	.	406;406	C9JQL1;Q9P2D8	.;UNC79_HUMAN	S	229;406;406;406;406	ENSP00000256339:R229S;ENSP00000450868:R406S;ENSP00000451360:R406S;ENSP00000376858:R406S	ENSP00000256339:R229S	R	+	3	2	KIAA1409	93074183	0.945000	0.32115	0.923000	0.36655	0.921000	0.55340	0.144000	0.16135	-0.353000	0.08224	-0.367000	0.07326	AGG		PASS	0.567	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		72	18	72	18	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95033468	95033468	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:95033468A>C	ENST00000557004.1	+	3	1232	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	SERPINA4_ENST00000555095.1_Missense_Mutation_p.K271Q|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.K271Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	271					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K271Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GATGGATTACAAAGGAGACGC	0.493																																						uc001ydk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(811-813)AAA>CAA		serine (or cysteine) proteinase inhibitor, clade							114.0	101.0	105.0					14																	95033468		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033468A>C	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.811A>C	14.37:g.95033468A>C	ENSP00000450838:p.Lys271Gln					SERPINA4_uc010avd.2_Missense_Mutation_p.K308Q|SERPINA4_uc001ydl.2_Missense_Mutation_p.K271Q	p.K271Q	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	877	+			271					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.811A>C	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	2.884	-0.231247	0.05983	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84800	-1.9;-1.9;-1.9	4.56	-0.165	0.13355	Serpin domain (3);	0.317296	0.25143	N	0.032819	T	0.70064	0.3181	N	0.20986	0.625	0.80722	D	1	B;B	0.23990	0.082;0.095	B;B	0.30251	0.098;0.113	T	0.50092	-0.8868	10	0.15499	T	0.54	.	5.6671	0.17700	0.5821:0.3162:0.1017:0.0	.	271;271	B2R815;P29622	.;KAIN_HUMAN	Q	271	ENSP00000450838:K271Q;ENSP00000451172:K271Q;ENSP00000298841:K271Q	ENSP00000298841:K271Q	K	+	1	0	SERPINA4	94103221	0.000000	0.05858	0.057000	0.19452	0.329000	0.28539	-0.025000	0.12413	-0.049000	0.13379	0.459000	0.35465	AAA		PASS	0.493	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		69	11	69	11	---	---	---	---
IGHA1	3493	broad.mit.edu	37	14	106173880	106173880	+	RNA	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:106173880C>A	ENST00000390547.2	-	0	686				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GCAGGTGGACCTCGGGCCGGA	0.677																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							8.0	10.0	9.0					14																	106173880		1856	4019	5875			8755							g.chr14:106173880C>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173880C>A						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001ysc.2_5'Flank								3633		-									RNA	SNP	ENST00000390547.2	37	c.60018G>T																																																																																					PASS	0.677	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		23	7	23	7	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34105704	34105704	+	Missense_Mutation	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:34105704C>T	ENST00000389232.4	+	74	10496	c.10426C>T	c.(10426-10428)Cac>Tac	p.H3476Y	RYR3_ENST00000415757.3_Missense_Mutation_p.H3471Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3476	Interaction with CALM. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.H3476Y(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCCGTCTGGCACAAACTGTT	0.512																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10426-10428)CAC>TAC		ryanodine receptor 3							134.0	131.0	132.0					15																	34105704		1948	4137	6085	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105704C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10426C>T	15.37:g.34105704C>T	ENSP00000373884:p.His3476Tyr					RYR3_uc010bar.2_Missense_Mutation_p.H3471Y	p.H3476Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	74	10496	+		all_lung(180;7.18e-09)	3476					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10426C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684966	0.68157	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96745	-4.11	4.83	4.83	0.62350	.	0.064399	0.64402	D	0.000005	D	0.95965	0.8686	L	0.42245	1.32	0.52501	D	0.99995	P;P	0.51933	0.898;0.949	B;P	0.51974	0.354;0.686	D	0.96133	0.9094	10	0.54805	T	0.06	.	18.1303	0.89599	0.0:1.0:0.0:0.0	.	3471;3476	Q15413-2;Q15413	.;RYR3_HUMAN	Y	3476;3476;3471	ENSP00000373884:H3476Y	ENSP00000354735:H3471Y	H	+	1	0	RYR3	31892996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.891000	0.69782	2.511000	0.84671	0.655000	0.94253	CAC		PASS	0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			100	164	100	164	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43044805	43044805	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:43044805T>A	ENST00000267890.6	-	14	2747	c.2639A>T	c.(2638-2640)aAg>aTg	p.K880M		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	880					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K880M(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTCATCATCCTTAGATATCTT	0.418																																						uc001zqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(2638-2640)AAG>ATG		tau tubulin kinase 2							78.0	76.0	77.0					15																	43044805		1873	4107	5980	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044805T>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2639A>T	15.37:g.43044805T>A	ENSP00000267890:p.Lys880Met					TTBK2_uc010bcy.2_Missense_Mutation_p.K811M	p.K880M	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3078	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	880					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2639A>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.980161	0.34942	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.39997	1.05	5.75	3.49	0.39957	.	0.483398	0.21995	N	0.066089	T	0.43077	0.1231	L	0.51422	1.61	0.21386	N	0.999709	P;P	0.48016	0.904;0.845	P;P	0.47981	0.563;0.533	T	0.35400	-0.9790	10	0.72032	D	0.01	.	10.5676	0.45181	0.0:0.1171:0.0:0.8829	.	811;880	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	M	880;810;1285	ENSP00000267890:K880M	ENSP00000263802:K1285M	K	-	2	0	TTBK2	40832097	0.671000	0.27521	0.564000	0.28396	0.579000	0.36224	1.444000	0.35068	2.199000	0.70637	0.533000	0.62120	AAG		PASS	0.418	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		56	98	56	98	---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51689784	51689784	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:51689784G>T	ENST00000335449.6	+	6	862	c.806G>T	c.(805-807)gGc>gTc	p.G269V	GLDN_ENST00000396399.2_Missense_Mutation_p.G145V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	269					clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G269V(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ATGTTCAACGGCCAGTGCCCA	0.632																																						uc002aba.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(805-807)GGC>GTC		gliomedin							33.0	42.0	39.0					15																	51689784		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51689784G>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.806G>T	15.37:g.51689784G>T	ENSP00000335196:p.Gly269Val					GLDN_uc002abb.2_Missense_Mutation_p.G145V	p.G269V	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	6	975	+			269			Extracellular (Potential).		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.806G>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048781	0.55110	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.93366	-3.21;-3.21	5.17	2.2	0.27929	.	0.537827	0.15522	N	0.257972	D	0.90793	0.7109	M	0.77486	2.375	0.48830	D	0.999711	P	0.36616	0.561	B	0.32393	0.145	D	0.87783	0.2613	10	0.72032	D	0.01	.	7.0372	0.25000	0.215:0.1311:0.6539:0.0	.	269	Q6ZMI3	GLDN_HUMAN	V	269;145;145	ENSP00000335196:G269V;ENSP00000379681:G145V	ENSP00000335196:G269V	G	+	2	0	GLDN	49477076	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.987000	0.29603	0.544000	0.28883	-0.172000	0.13284	GGC		PASS	0.632	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		27	45	27	45	---	---	---	---
TMOD2	29767	broad.mit.edu	37	15	52098653	52098653	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:52098653A>G	ENST00000249700.4	+	9	1177	c.956A>G	c.(955-957)tAc>tGc	p.Y319C	TMOD2_ENST00000435126.2_Missense_Mutation_p.Y283C|TMOD2_ENST00000539962.2_Missense_Mutation_p.Y275C	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	319					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.Y319C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		AAGTTTGGATACCAGTTTACC	0.468																																						uc002abk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(955-957)TAC>TGC		neuronal tropomodulin isoform a							107.0	96.0	100.0					15																	52098653		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52098653A>G	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.956A>G	15.37:g.52098653A>G	ENSP00000249700:p.Tyr319Cys					TMOD2_uc002abl.3_Missense_Mutation_p.Y283C|TMOD2_uc010bfb.2_Missense_Mutation_p.Y275C	p.Y319C	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	9	1177	+			319					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.956A>G	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560143	0.86335	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	D;T;T	0.92858	-3.12;2.22;2.22	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.97690	1.0178	10	0.87932	D	0	-10.2	15.4845	0.75555	1.0:0.0:0.0:0.0	.	283;319	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	C	283;319;275	ENSP00000404590:Y283C;ENSP00000249700:Y319C;ENSP00000437743:Y275C	ENSP00000249700:Y319C	Y	+	2	0	TMOD2	49885945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.240000	0.73641	0.533000	0.62120	TAC		PASS	0.468	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			72	76	72	76	---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52538196	52538196	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:52538196C>G	ENST00000261839.7	-	17	2184	c.2023G>C	c.(2023-2025)Gtt>Ctt	p.V675L	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	675	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V675L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTTTCTAAAACGCCGCAGGCT	0.443																																						uc010bff.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(2023-2025)GTT>CTT		myosin VC							77.0	72.0	73.0					15																	52538196		1885	4113	5998	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52538196C>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2023G>C	15.37:g.52538196C>G	ENSP00000261839:p.Val675Leu					MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	p.V675L	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	17	2160	-			675			Myosin head-like.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.2023G>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155570	0.38021	.	.	ENSG00000128833	ENST00000261839	D	0.95724	-3.79	4.88	3.0	0.34707	Myosin head, motor domain (2);	0.212341	0.39909	N	0.001235	D	0.95497	0.8537	L	0.60845	1.875	0.80722	D	1	P	0.48640	0.913	P	0.53490	0.727	D	0.94727	0.7906	10	0.87932	D	0	.	11.982	0.53125	0.0:0.8802:0.0:0.1198	.	675	Q9NQX4	MYO5C_HUMAN	L	675	ENSP00000261839:V675L	ENSP00000261839:V675L	V	-	1	0	MYO5C	50325488	1.000000	0.71417	0.002000	0.10522	0.392000	0.30506	5.935000	0.70145	0.670000	0.31165	0.655000	0.94253	GTT		PASS	0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		46	65	46	65	---	---	---	---
RAB27A	5873	broad.mit.edu	37	15	55520835	55520835	+	Silent	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:55520835T>C	ENST00000396307.2	-	4	566	c.315A>G	c.(313-315)caA>caG	p.Q105Q	RAB27A_ENST00000569493.1_Silent_p.Q105Q|RAB27A_ENST00000564609.1_Silent_p.Q105Q|RAB27A_ENST00000336787.1_Silent_p.Q105Q	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	105					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q105Q(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TGAGGAAACTTTGCTCATTTG	0.403																																						uc002aco.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(313-315)CAA>CAG		Ras-related protein Rab-27A							124.0	120.0	121.0					15																	55520835		2193	4292	6485	SO:0001819	synonymous_variant	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55520835T>C	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.315A>G	15.37:g.55520835T>C						RAB27A_uc002acr.2_Silent_p.Q105Q|RAB27A_uc002acp.2_Silent_p.Q105Q|RAB27A_uc002acq.2_Silent_p.Q105Q	p.Q105Q	NM_183234	NP_899057	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	5	548	-			105					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Silent	SNP	ENST00000396307.2	37	c.315A>G	CCDS10153.1																																																																																				PASS	0.403	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		76	111	76	111	---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56152937	56152937	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:56152937C>A	ENST00000508342.1	-	6	2270	c.1971G>T	c.(1969-1971)ctG>ctT	p.L657L	NEDD4_ENST00000435532.3_Silent_p.L238L|NEDD4_ENST00000338963.2_Silent_p.L585L|NEDD4_ENST00000506154.1_Silent_p.L641L	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	657	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.L238L(1)|p.L585L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTTGTGCTTGCAGTTGAATGT	0.413																																						uc002adj.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(1969-1971)CTG>CTT		neural precursor cell expressed, developmentally							222.0	199.0	207.0					15																	56152937		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56152937C>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1971G>T	15.37:g.56152937C>A						NEDD4_uc002adl.2_Silent_p.L238L|NEDD4_uc002adi.2_Silent_p.L585L|NEDD4_uc010ugj.1_Silent_p.L641L|NEDD4_uc010bfm.2_Silent_p.L640L|NEDD4_uc002adk.2_RNA	p.L657L	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	6	2271	-			657			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.1971G>T		.	.	.	.	.	.	.	.	.	.	C	9.680	1.149151	0.21288	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.66	1.2	0.21068	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28964	-1.0027	4	.	.	.	.	2.5164	0.04669	0.2447:0.4846:0.1257:0.145	.	.	.	.	F	248	.	.	C	-	2	0	NEDD4	53940229	0.988000	0.35896	0.998000	0.56505	0.956000	0.61745	0.216000	0.17585	0.718000	0.32166	0.585000	0.79938	TGC		PASS	0.413	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		86	98	86	98	---	---	---	---
MAP2K5	5607	broad.mit.edu	37	15	67950889	67950889	+	Splice_Site	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:67950889A>T	ENST00000178640.5	+	12	1363		c.e12-1		MAP2K5_ENST00000340972.4_Splice_Site|MAP2K5_ENST00000395476.2_Splice_Site|MAP2K5_ENST00000560591.1_Splice_Site|MAP2K5_ENST00000354498.5_Splice_Site	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5						activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.?(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTATCTCTACAGGGGGATCTT	0.388																																						uc002aqu.2																			2	Unknown(2)		lung(2)	lung(2)	2						c.e12-2		mitogen-activated protein kinase kinase 5							145.0	147.0	146.0					15																	67950889		2200	4298	6498	SO:0001630	splice_region_variant	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:67950889A>T	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.737-1A>T	15.37:g.67950889A>T						MAP2K5_uc002aqt.1_Splice_Site_p.G246_splice|MAP2K5_uc002aqv.2_Splice_Site_p.G246_splice|MAP2K5_uc002aqw.2_Splice_Site_p.G86_splice|MAP2K5_uc002aqx.2_Splice_Site_p.G56_splice	p.G246_splice	NM_145160	NP_660143	Q13163	MP2K5_HUMAN			12	1390	+								B4DE43|Q92961|Q92962	Splice_Site	SNP	ENST00000178640.5	37	c.737_splice	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261741	0.80358	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7684	0.69657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K5	65737943	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.360000	0.79487	2.223000	0.72356	0.455000	0.32223	.		PASS	0.388	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162	Intron	66	100	66	100	---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68479904	68479904	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:68479904G>T	ENST00000249636.6	+	14	1835	c.1687G>T	c.(1687-1689)Gct>Tct	p.A563S	PIAS1_ENST00000545237.1_Missense_Mutation_p.A565S	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	563	4 X 4 AA repeats of N-T-S-L.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A563S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CTTGCTTGCCGCTGCAGCAGC	0.438																																						uc002aqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1687-1689)GCT>TCT		protein inhibitor of activated STAT, 1							86.0	82.0	83.0					15																	68479904		1894	4110	6004	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68479904G>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1687G>T	15.37:g.68479904G>T	ENSP00000249636:p.Ala563Ser					PIAS1_uc002ara.2_Missense_Mutation_p.A171S	p.A563S	NM_016166	NP_057250	O75925	PIAS1_HUMAN			14	1783	+			563			4 X 4 AA repeats of N-T-S-L.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1687G>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475557	0.43942	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.31769	1.49;1.48	5.67	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.31207	0.915	0.80722	D	1	D	0.57257	0.979	P	0.49829	0.623	T	0.02263	-1.1186	10	0.02654	T	1	-10.7345	15.0232	0.71647	0.0694:0.0:0.9306:0.0	.	563	O75925	PIAS1_HUMAN	S	563;565	ENSP00000249636:A563S;ENSP00000438574:A565S	ENSP00000249636:A563S	A	+	1	0	PIAS1	66266958	1.000000	0.71417	0.842000	0.33263	0.953000	0.61014	7.347000	0.79356	2.666000	0.90696	0.655000	0.94253	GCT		PASS	0.438	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			3	126	3	126	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238414	69238414	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:69238414G>T	ENST00000310673.3	+	2	695	c.541G>T	c.(541-543)Gtc>Ttc	p.V181F	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	181					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.V181F(1)|p.V181L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAGTCACCTGTCACCACTTT	0.448																																						uc002arn.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(541-543)GTC>TTC		sperm equatorial segment protein 1 precursor							124.0	121.0	122.0					15																	69238414		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238414G>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.541G>T	15.37:g.69238414G>T	ENSP00000312284:p.Val181Phe					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.V181F	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	669	+			181					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.541G>T	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930521	0.34096	.	.	ENSG00000258484	ENST00000310673	T	0.28454	1.61	3.77	-5.33	0.02713	.	1.845360	0.03277	N	0.185649	T	0.15869	0.0382	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.09729	-1.0661	10	0.33141	T	0.24	4.9367	0.4776	0.00542	0.3815:0.1288:0.2022:0.2875	.	181	Q6UW49	SPESP_HUMAN	F	181	ENSP00000312284:V181F	ENSP00000312284:V181F	V	+	1	0	SPESP1	67025468	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.117000	0.02965	-0.274000	0.10170	GTC		PASS	0.448	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		106	184	106	184	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79291169	79291169	+	Splice_Site	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:79291169T>A	ENST00000419573.3	-	19	3069		c.e19-2		RASGRF1_ENST00000558480.2_Splice_Site|RASGRF1_ENST00000560334.1_Splice_Site|RASGRF1_ENST00000394745.3_Splice_Site	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGGAAACCCTGGCAGCATGC	0.577																																						uc002beq.2																			1	Unknown(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.e19-1		Ras protein-specific guanine							81.0	75.0	77.0					15																	79291169		2196	4293	6489	SO:0001630	splice_region_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79291169T>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2795-2A>T	15.37:g.79291169T>A						RASGRF1_uc002bep.2_Splice_Site_p.G916_splice|RASGRF1_uc010blm.1_Splice_Site_p.G841_splice|RASGRF1_uc002ber.3_Splice_Site_p.G916_splice|RASGRF1_uc010unh.1_Splice_Site_p.G327_splice|RASGRF1_uc002beo.2_Splice_Site_p.G148_splice	p.G932_splice	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			19	3170	-								F8VPA5|H0YKF2|J3KQP9|Q16027	Splice_Site	SNP	ENST00000419573.3	37	c.2795_splice	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.749946	0.49257	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0978	0.53765	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRF1	77078224	1.000000	0.71417	0.977000	0.42913	0.572000	0.35998	5.848000	0.69458	1.944000	0.56390	0.443000	0.29094	.		PASS	0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	Intron	49	59	49	59	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	87097716	87097716	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:87097716G>C	ENST00000441037.2	+	20	2899	c.2804G>C	c.(2803-2805)aGa>aCa	p.R935T	AGBL1_ENST00000421325.2_Missense_Mutation_p.R935T|AGBL1_ENST00000389298.3_Missense_Mutation_p.R666T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	935					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R935T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGGGTGTCCAGAAGCTACACC	0.547																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2803-2805)AGA>ACA		ATP/GTP binding protein-like 1							29.0	30.0	29.0					15																	87097716		1917	4133	6050	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87097716G>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2804G>C	15.37:g.87097716G>C	ENSP00000413001:p.Arg935Thr						p.R935T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			20	2884	+			935					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2804G>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093178	0.76756	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.09911	2.93;2.93	4.97	4.03	0.46877	Peptidase M14, carboxypeptidase A (1);	0.000000	0.43747	U	0.000526	T	0.28962	0.0719	M	0.76002	2.32	0.32185	N	0.579826	D	0.63880	0.993	D	0.63113	0.911	T	0.27434	-1.0074	10	0.87932	D	0	-9.815	12.8672	0.57946	0.0799:0.0:0.9201:0.0	.	935	Q96MI9	CBPC4_HUMAN	T	970;935;666	ENSP00000397173:R935T;ENSP00000373949:R666T	ENSP00000373949:R666T	R	+	2	0	AGBL1	84898720	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.627000	0.61276	2.595000	0.87683	0.650000	0.86243	AGA		PASS	0.547	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		7	10	7	10	---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3139746	3139746	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr16:3139746C>T	ENST00000252463.2	-	5	1611	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	ZSCAN10_ENST00000538082.2_Silent_p.S426S|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Silent_p.S169S	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	508					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S508S(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGACCAGCTGCGAGCTCTGCG	0.721																																						uc002ctv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1522-1524)TCG>TCA		zinc finger and SCAN domain containing 10							10.0	11.0	11.0					16																	3139746		2169	4249	6418	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139746C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1524G>A	16.37:g.3139746C>T						ZSCAN10_uc002cty.1_Silent_p.S169S|ZSCAN10_uc002ctw.1_Silent_p.S426S|ZSCAN10_uc002ctx.1_Silent_p.S436S	p.S508S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1612	-			508			C2H2-type 7.		B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1524G>A	CCDS10493.1																																																																																				PASS	0.721	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		10	3	10	3	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27357843	27357843	+	Silent	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr16:27357843G>T	ENST00000395762.2	+	6	676	c.417G>T	c.(415-417)ctG>ctT	p.L139L	IL4R_ENST00000170630.2_Silent_p.L139L|IL4R_ENST00000543915.2_Silent_p.L139L|IL4R_ENST00000449195.1_Silent_p.L139L|IL4R_ENST00000380922.3_Silent_p.L124L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	139	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.L139L(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						CCGACACTCTGCTGCTGACCT	0.527																																						uc002don.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(415-417)CTG>CTT		interleukin 4 receptor alpha chain isoform a							103.0	92.0	96.0					16																	27357843		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:27357843G>T	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.417G>T	16.37:g.27357843G>T						IL4R_uc002dom.2_Silent_p.L139L|IL4R_uc002dop.3_Silent_p.L124L|IL4R_uc010bxy.2_Silent_p.L139L|IL4R_uc002doo.2_5'UTR	p.L139L	NM_000418	NP_000409	P24394	IL4RA_HUMAN			6	659	+			139			Extracellular (Potential).|Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.417G>T	CCDS10629.1																																																																																				PASS	0.527	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			47	18	47	18	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31341848	31341848	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr16:31341848C>A	ENST00000287497.8	+	28	3273	c.3198C>A	c.(3196-3198)atC>atA	p.I1066I	ITGAM_ENST00000544665.3_Silent_p.I1067I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1066					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.I1066I(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACCTCCTGATCGTGAGCACAG	0.627																																						uc002ebq.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(3196-3198)ATC>ATA		integrin alpha M isoform 2 precursor							66.0	67.0	67.0					16																	31341848		2088	4217	6305	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31341848C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3198C>A	16.37:g.31341848C>A						ITGAM_uc002ebr.2_Silent_p.I1067I|ITGAM_uc010can.2_Silent_p.I472I	p.I1066I	NM_000632	NP_000623	P11215	ITAM_HUMAN			28	3296	+			1066			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.3198C>A	CCDS45470.1																																																																																				PASS	0.627	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		20	5	20	5	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31926523	31926523	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr16:31926523A>T	ENST00000300870.10	+	4	1162	c.953A>T	c.(952-954)gAa>gTa	p.E318V		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	318					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E318V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ATCCATAATGAAGAGAAACCA	0.343																																						uc002ecs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(952-954)GAA>GTA		zinc finger protein 267							84.0	87.0	86.0					16																	31926523		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926523A>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.953A>T	16.37:g.31926523A>T	ENSP00000300870:p.Glu318Val						p.E318V	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	1162	+			318					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.953A>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	8.027	0.760946	0.15914	.	.	ENSG00000185947	ENST00000300870	T	0.16196	2.36	0.458	0.458	0.16670	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.58510	1.815	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	9	0.87932	D	0	.	2.6383	0.04964	0.6143:0.0:0.3857:0.0	.	318	Q14586	ZN267_HUMAN	V	318	ENSP00000300870:E318V	ENSP00000300870:E318V	E	+	2	0	ZNF267	31834024	0.045000	0.20229	0.006000	0.13384	0.006000	0.05464	0.468000	0.22051	0.407000	0.25591	0.397000	0.26171	GAA		PASS	0.343	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		68	21	68	21	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57095391	57095391	+	Missense_Mutation	SNP	G	G	A	rs199476003		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr16:57095391G>A	ENST00000262510.6	+	31	4243	c.4018G>A	c.(4018-4020)Gtg>Atg	p.V1340M	NLRC5_ENST00000308149.7_Missense_Mutation_p.V1311M|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.V1311M|NLRC5_ENST00000436936.1_Missense_Mutation_p.V1340M	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1340					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.V1340M(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCAGAGCACGTGTCCAGGCT	0.657																																						uc002ekk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|breast(1)	7						c.(4018-4020)GTG>ATG		nucleotide-binding oligomerization domains 27							44.0	40.0	41.0					16																	57095391		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57095391G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4018G>A	16.37:g.57095391G>A	ENSP00000262510:p.Val1340Met					NLRC5_uc002ekn.2_Missense_Mutation_p.V1001M|NLRC5_uc002ekl.2_Missense_Mutation_p.V1144M|NLRC5_uc002ekm.2_Missense_Mutation_p.V1114M|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.V255M|NLRC5_uc002ekq.1_Translation_Start_Site|NLRC5_uc002ekr.1_Missense_Mutation_p.V227M	p.V1340M	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			31	4243	+		all_neural(199;0.225)	1340					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4018G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.074462|3.074462	0.55646|0.55646	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.|T;T;T;T;T;T	.|0.55234	.|0.53;5.4;0.53;5.4;0.53;0.53	4.55|4.55	-2.62|-2.62	0.06152|0.06152	.|.	.|.	.|.	.|.	.|.	T|T	0.36082|0.36082	0.0954|0.0954	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.48589	.|0.765;0.912;0.912;0.889;0.773	.|B;B;B;B;B	.|0.36289	.|0.052;0.157;0.221;0.154;0.11	T|T	0.28427|0.28427	-1.0044|-1.0044	5|9	.|0.48119	.|T	.|0.1	.|.	4.9998|4.9998	0.14259|0.14259	0.525:0.1665:0.3084:0.0|0.525:0.1665:0.3084:0.0	.|.	.|1024;1311;1311;1340;1340	.|Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;.;NLRC5_HUMAN	H|M	1091;91|1340;1311;1340;783;1311;816;551	.|ENSP00000262510:V1340M;ENSP00000308886:V1311M;ENSP00000389739:V1340M;ENSP00000441727:V1311M;ENSP00000441597:V816M;ENSP00000440153:V551M	.|ENSP00000262510:V1340M	R|V	+|+	2|1	0|0	NLRC5|NLRC5	55652892|55652892	0.000000|0.000000	0.05858|0.05858	0.053000|0.053000	0.19242|0.19242	0.536000|0.536000	0.34869|0.34869	-1.556000|-1.556000	0.02168|0.02168	-0.306000|-0.306000	0.08818|0.08818	0.435000|0.435000	0.28638|0.28638	CGT|GTG		PASS	0.657	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		30	24	30	24	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81965179	81965179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr16:81965179G>T	ENST00000359376.3	+	25	2873	c.2659G>T	c.(2659-2661)Gag>Tag	p.E887*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	887					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E887*(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCTCCGGTGGAGTTTGCCAC	0.532																																						uc002fgt.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2659-2661)GAG>TAG		phospholipase C, gamma 2							80.0	85.0	84.0					16																	81965179		1935	4128	6063	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81965179G>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2659G>T	16.37:g.81965179G>T	ENSP00000352336:p.Glu887*						p.E887*	NM_002661	NP_002652	P16885	PLCG2_HUMAN			25	2811	+			887					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.2659G>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	45	11.318025	0.99546	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.54	5.54	0.83059	.	0.096387	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.4893	0.95044	0.0:0.0:1.0:0.0	.	.	.	.	X	887	.	ENSP00000352336:E887X	E	+	1	0	PLCG2	80522680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.922000	0.92789	2.584000	0.87258	0.655000	0.94253	GAG		PASS	0.532	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			84	28	84	28	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7752382	7752382	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:7752382G>A	ENST00000448097.2	+	11	3107	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	KDM6B_ENST00000254846.5_Missense_Mutation_p.E926K			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	926					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E926K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GACCCTTGTGGAGCGGGTGGG	0.672																																						uc002giw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(2776-2778)GAG>AAG		lysine (K)-specific demethylase 6B							19.0	21.0	20.0					17																	7752382		2119	4183	6302	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752382G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2776G>A	17.37:g.7752382G>A	ENSP00000412513:p.Glu926Lys					KDM6B_uc002gix.2_Missense_Mutation_p.E228K	p.E926K	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	3152	+			926					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2776G>A		.	.	.	.	.	.	.	.	.	.	G	13.82	2.351816	0.41700	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.76448	-1.02;-1.02	4.47	4.47	0.54385	.	0.334023	0.26590	N	0.023539	T	0.76666	0.4019	N	0.19112	0.55	0.44555	D	0.997517	P;D	0.71674	0.948;0.998	P;P	0.60789	0.452;0.879	T	0.73490	-0.3966	10	0.22109	T	0.4	-13.2309	16.4225	0.83771	0.0:0.0:1.0:0.0	.	926;926	O15054;O15054-1	KDM6B_HUMAN;.	K	926	ENSP00000254846:E926K;ENSP00000412513:E926K	ENSP00000254846:E926K	E	+	1	0	KDM6B	7693107	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.823000	0.48081	2.490000	0.84030	0.462000	0.41574	GAG		PASS	0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		10	54	10	54	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10428555	10428555	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:10428555A>T	ENST00000245503.5	-	33	5032	c.4648T>A	c.(4648-4650)Tta>Ata	p.L1550I	MYH2_ENST00000397183.2_Missense_Mutation_p.L1550I|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1550					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1550I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTTCTTCTAAAGCAGCCTGA	0.363																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4648-4650)TTA>ATA		myosin heavy chain IIa							116.0	112.0	113.0					17																	10428555		2203	4299	6502	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428555A>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4648T>A	17.37:g.10428555A>T	ENSP00000245503:p.Leu1550Ile					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L1550I|MYH2_uc010coj.2_Intron	p.L1550I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			33	4776	-			1550			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4648T>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757236	0.69648	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80994	-1.44;-1.44	5.2	3.0	0.34707	Myosin tail (1);	0.000000	0.30781	U	0.008891	D	0.90528	0.7032	H	0.94222	3.51	0.39967	D	0.974746	D	0.89917	1.0	D	0.91635	0.999	D	0.89075	0.3472	10	0.87932	D	0	.	6.486	0.22089	0.5578:0.0:0.4422:0.0	.	1550	Q9UKX2	MYH2_HUMAN	I	1550	ENSP00000245503:L1550I;ENSP00000380367:L1550I	ENSP00000245503:L1550I	L	-	1	2	MYH2	10369280	0.999000	0.42202	0.973000	0.42090	0.998000	0.95712	3.147000	0.50639	0.467000	0.27218	0.482000	0.46254	TTA		PASS	0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		90	143	90	143	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10443325	10443325	+	Missense_Mutation	SNP	G	G	T	rs144860788		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:10443325G>T	ENST00000245503.5	-	12	1451	c.1067C>A	c.(1066-1068)aCg>aAg	p.T356K	MYH2_ENST00000397183.2_Missense_Mutation_p.T356K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.T356K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	356	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T356K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACAGCCCCCGTGAGCTTGTA	0.428																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1066-1068)ACG>AAG		myosin heavy chain IIa							170.0	159.0	163.0					17																	10443325		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443325G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1067C>A	17.37:g.10443325G>T	ENSP00000245503:p.Thr356Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T356K|MYH2_uc010coj.2_Missense_Mutation_p.T356K	p.T356K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			12	1195	-			356			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1067C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664105	0.88251	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87650	-2.28;-2.28;-2.28	5.03	5.03	0.67393	Myosin head, motor domain (2);	0.000000	0.40385	U	0.001106	D	0.96090	0.8726	H	0.97240	3.965	0.54753	D	0.999988	P;D	0.89917	0.919;1.0	P;D	0.85130	0.698;0.997	D	0.97282	0.9918	10	0.87932	D	0	.	17.8989	0.88897	0.0:0.0:1.0:0.0	.	356;356	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	356	ENSP00000433944:T356K;ENSP00000245503:T356K;ENSP00000380367:T356K	ENSP00000245503:T356K	T	-	2	0	MYH2	10384050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.728000	0.84847	2.787000	0.95880	0.650000	0.86243	ACG		PASS	0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		123	190	123	190	---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17078674	17078674	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:17078674G>T	ENST00000341712.4	+	19	2657	c.2657G>T	c.(2656-2658)gGg>gTg	p.G886V	MPRIP_ENST00000395804.3_Missense_Mutation_p.G886V|MPRIP_ENST00000395811.5_Missense_Mutation_p.G886V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.G848V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	886						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.G886V(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GACGGCGGTGGGGAGGCCACT	0.622																																						uc002gqu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2656-2658)GGG>GTG		myosin phosphatase-Rho interacting protein							42.0	37.0	39.0					17																	17078674		2203	4296	6499	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17078674G>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2657G>T	17.37:g.17078674G>T	ENSP00000342379:p.Gly886Val					MPRIP_uc002gqv.1_Missense_Mutation_p.G886V|MPRIP_uc002gqw.1_Missense_Mutation_p.G641V|MPRIP_uc002gqx.1_Missense_Mutation_p.G1115V|MPRIP_uc002gqy.1_Missense_Mutation_p.G1115V|MPRIP_uc010cpl.1_Intron|MPRIP_uc010cpm.1_Intron	p.G886V	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			19	2713	+			886			Potential.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2657G>T	CCDS32578.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.2|20.2|20.2	3.944940|3.944940|3.944940	0.73672|0.73672|0.73672	.|.|.	.|.|.	ENSG00000133030|ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000414263|ENST00000313485	T;T;T;T|.|.	0.26067|.|.	1.76;2.07;2.07;2.07|.|.	5.77|5.77|5.77	5.77|5.77|5.77	0.91146|0.91146|0.91146	.|.|.	0.055770|0.055770|.	0.64402|0.64402|.	D|D|.	0.000001|0.000001|.	T|T|T	0.63355|0.63355|0.63355	0.2504|0.2504|0.2504	L|L|L	0.47716|0.47716|0.47716	1.5|1.5|1.5	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;D;D|.|.	0.89917|.|.	0.999;1.0;1.0|.|.	D;D;D|.|.	0.80764|.|.	0.979;0.994;0.968|.|.	T|T|T	0.58451|0.58451|0.58451	-0.7634|-0.7634|-0.7634	10|7|5	0.72032|0.72032|.	D|D|.	0.01|0.01|.	-6.9144|-6.9144|-6.9144	15.5817|15.5817|15.5817	0.76448|0.76448|0.76448	0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383	.|.|.	1250;886;886|.|.	Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.|.	.;.;MPRIP_HUMAN|.|.	V|W|C	848;886;886;886|952|1250	ENSP00000400189:G848V;ENSP00000379156:G886V;ENSP00000379149:G886V;ENSP00000342379:G886V|.|.	ENSP00000342379:G886V|ENSP00000412147:G952W|.	G|G|W	+|+|+	2|1|3	0|0|0	MPRIP|MPRIP|MPRIP	17019399|17019399|17019399	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.424000|0.424000|0.424000	0.26647|0.26647|0.26647	0.767000|0.767000|0.767000	0.43475|0.43475|0.43475	3.659000|3.659000|3.659000	0.54489|0.54489|0.54489	2.721000|2.721000|2.721000	0.93114|0.93114|0.93114	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGG|TGG		PASS	0.622	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		19	34	19	34	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18205961	18205961	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:18205961G>C	ENST00000321105.5	-	6	790	c.576C>G	c.(574-576)aaC>aaG	p.N192K	TOP3A_ENST00000542570.1_Missense_Mutation_p.N97K	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	192					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.N192K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCTCGGTCAGGTTTTCACAAG	0.562																																						uc002gsx.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(574-576)AAC>AAG		topoisomerase (DNA) III alpha							113.0	93.0	100.0					17																	18205961		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.chr17:18205961G>C	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.576C>G	17.37:g.18205961G>C	ENSP00000321636:p.Asn192Lys					TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.N90K|TOP3A_uc010cqa.1_RNA	p.N192K	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			6	805	-			192					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.576C>G	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.02|12.02	1.813452|1.813452	0.32053|0.32053	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.26067|.	1.76;2.96|.	6.07|6.07	3.0|3.0	0.34707|0.34707	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, domain 2 (1);|.	0.214500|.	0.56097|.	D|.	0.000030|.	T|T	0.70640|0.70640	0.3247|0.3247	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	B;P|.	0.35226|.	0.446;0.491|.	B;B|.	0.40825|.	0.272;0.341|.	T|T	0.69866|0.69866	-0.5029|-0.5029	10|5	0.46703|.	T|.	0.11|.	-30.2525|-30.2525	11.2315|11.2315	0.48914|0.48914	0.2524:0.0:0.7476:0.0|0.2524:0.0:0.7476:0.0	.|.	97;192|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	K|A	192;97|172	ENSP00000321636:N192K;ENSP00000442336:N97K|.	ENSP00000321636:N192K|.	N|P	-|-	3|1	2|0	TOP3A|TOP3A	18146686|18146686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.667000|0.667000	0.39255|0.39255	1.030000|1.030000	0.30153|0.30153	0.877000|0.877000	0.35895|0.35895	0.655000|0.655000	0.94253|0.94253	AAC|CCT		PASS	0.562	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			19	62	19	62	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37455251	37455251	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:37455251A>T	ENST00000264658.6	-	5	581	c.321T>A	c.(319-321)aaT>aaA	p.N107K	FBXL20_ENST00000583610.1_Missense_Mutation_p.N107K|FBXL20_ENST00000577399.1_Missense_Mutation_p.N109K|FBXL20_ENST00000394294.3_Missense_Mutation_p.N107K|AC005288.1_ENST00000584584.1_RNA	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	107					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.N107K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			ACCTTAATGCATTGTCTCCCA	0.393																																						uc010wed.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)AAT>AAA		F-box and leucine-rich repeat protein 20							123.0	115.0	118.0					17																	37455251		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37455251A>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.321T>A	17.37:g.37455251A>T	ENSP00000264658:p.Asn107Lys					FBXL20_uc002hrt.2_Missense_Mutation_p.N107K|FBXL20_uc010cvu.2_Missense_Mutation_p.N107K	p.N107K	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		5	542	-			107			LRR 2.		A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.321T>A	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350716	0.24512	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.50001	4.34;0.76	5.68	4.61	0.57282	.	0.129784	0.64402	D	0.000001	T	0.20536	0.0494	N	0.08118	0	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.13522	-1.0506	10	0.02654	T	1	.	6.3668	0.21459	0.7104:0.0:0.2896:0.0	.	107;107	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	K	107	ENSP00000264658:N107K;ENSP00000377832:N107K	ENSP00000264658:N107K	N	-	3	2	FBXL20	34708777	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.764000	0.26532	1.097000	0.41459	0.482000	0.46254	AAT		PASS	0.393	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		19	89	19	89	---	---	---	---
NSF	4905	broad.mit.edu	37	17	44770377	44770377	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:44770377A>T	ENST00000398238.4	+	10	1161	c.1054A>T	c.(1054-1056)Aac>Tac	p.N352Y	NSF_ENST00000225282.8_Missense_Mutation_p.N258Y|NSF_ENST00000575068.1_Missense_Mutation_p.N347Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	352					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)	p.N352Y(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CACTGTTGTCAACCAGTTGCT	0.408																																					Ovarian(25;472 742 1472 36813 50223)	uc002iku.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1054-1056)AAC>TAC		vesicle-fusing ATPase							84.0	83.0	84.0					17																	44770377		1951	4142	6093	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44770377A>T		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1054A>T	17.37:g.44770377A>T	ENSP00000381293:p.Asn352Tyr					NSF_uc010wke.1_Missense_Mutation_p.N258Y|NSF_uc010wkf.1_Missense_Mutation_p.N258Y|NSF_uc010wkg.1_Missense_Mutation_p.N347Y	p.N352Y	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	10	1158	+		Melanoma(429;0.203)	352					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1054A>T	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084848	0.76642	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	D;D	0.94280	-3.39;-3.39	4.06	4.06	0.47325	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98628	1.0670	10	0.87932	D	0	-15.698	13.3095	0.60371	1.0:0.0:0.0:0.0	.	352	P46459	NSF_HUMAN	Y	352;258	ENSP00000381293:N352Y;ENSP00000225282:N258Y	ENSP00000225282:N258Y	N	+	1	0	NSF	42125561	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.276000	0.95745	1.602000	0.50124	0.374000	0.22700	AAC		PASS	0.408	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		30	61	30	61	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55027261	55027261	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:55027261T>C	ENST00000240316.4	-	2	1376	c.1342A>G	c.(1342-1344)Act>Gct	p.T448A		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	448	2 X 4 AA repeats of S-L-P-A.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.T448A(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TGGATAATAGTAGATGAATTT	0.403																																						uc002iuu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)ACT>GCT		coilin							83.0	90.0	88.0					17																	55027261		2201	4300	6501	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027261T>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1342A>G	17.37:g.55027261T>C	ENSP00000240316:p.Thr448Ala						p.T448A	NM_004645	NP_004636	P38432	COIL_HUMAN			2	1373	-	Breast(9;6.15e-08)		448			2 X 4 AA repeats of S-L-P-A.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1342A>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	7.746	0.702368	0.15172	.	.	ENSG00000121058	ENST00000240316	.	.	.	6.04	2.59	0.31030	.	0.838702	0.11019	N	0.608561	T	0.35740	0.0942	L	0.54323	1.7	0.09310	N	1	B	0.28470	0.213	B	0.31547	0.132	T	0.34329	-0.9833	9	0.40728	T	0.16	-3.069	3.873	0.09044	0.1539:0.3336:0.0:0.5125	.	448	P38432	COIL_HUMAN	A	448	.	ENSP00000240316:T448A	T	-	1	0	COIL	52382260	0.001000	0.12720	0.059000	0.19551	0.626000	0.37791	0.529000	0.23019	0.491000	0.27793	0.460000	0.39030	ACT		PASS	0.403	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			88	73	88	73	---	---	---	---
CD300A	11314	broad.mit.edu	37	17	72469855	72469855	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:72469855G>A	ENST00000360141.3	+	2	509	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	74	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.R74Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGAACGGCCGAGTGTCCATC	0.522																																						uc002jkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(220-222)CGA>CAA		leukocyte membrane antigen							174.0	148.0	157.0					17																	72469855		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469855G>A	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.221G>A	17.37:g.72469855G>A	ENSP00000353259:p.Arg74Gln					CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	p.R74Q	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			2	542	+			74			Extracellular (Potential).|Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.221G>A	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299781	0.40694	.	.	ENSG00000167851	ENST00000360141	T	0.10099	2.91	4.06	0.491	0.16867	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.966892	0.08406	N	0.950660	T	0.35508	0.0934	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.24012	-1.0172	10	0.87932	D	0	.	4.4468	0.11602	0.235:0.181:0.5839:0.0	.	74	Q9UGN4	CLM8_HUMAN	Q	74	ENSP00000353259:R74Q	ENSP00000353259:R74Q	R	+	2	0	CD300A	69981450	0.204000	0.23447	0.897000	0.35233	0.061000	0.15899	0.354000	0.20146	0.027000	0.15297	0.305000	0.20034	CGA		PASS	0.522	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		60	58	60	58	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22805045	22805045	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr18:22805045C>G	ENST00000361524.3	-	4	2985	c.2837G>C	c.(2836-2838)cGg>cCg	p.R946P	ZNF521_ENST00000584787.1_Missense_Mutation_p.R726P|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R946P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	946					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.R946L(1)|p.R946P(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CATATGTTCCCGGAGGCCATT	0.483			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|lung(1)	7						c.(2836-2838)CGG>CCG		zinc finger protein 521							122.0	113.0	116.0					18																	22805045		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805045C>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2837G>C	18.37:g.22805045C>G	ENSP00000354794:p.Arg946Pro					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.R946P|ZNF521_uc002kvl.2_Missense_Mutation_p.R726P	p.R946P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3084	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		946			C2H2-type 22.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2837G>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072791	0.36566	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.22539	1.95;1.95	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.71581	2.175	0.48185	D	0.999602	D	0.89917	1.0	D	0.91635	0.999	T	0.11275	-1.0594	10	0.29301	T	0.29	-28.1026	20.4239	0.99064	0.0:1.0:0.0:0.0	.	946	Q96K83	ZN521_HUMAN	P	946;980;946	ENSP00000354794:R946P;ENSP00000382352:R946P	ENSP00000354794:R946P	R	-	2	0	ZNF521	21059043	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.487000	0.81328	2.828000	0.97474	0.655000	0.94253	CGG		PASS	0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		89	95	89	95	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22805047	22805047	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr18:22805047G>A	ENST00000361524.3	-	4	2983	c.2835C>T	c.(2833-2835)ctC>ctT	p.L945L	ZNF521_ENST00000584787.1_Silent_p.L725L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.L945L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	945					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L945L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TATGTTCCCGGAGGCCATTTT	0.483			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(2833-2835)CTC>CTT		zinc finger protein 521							125.0	117.0	119.0					18																	22805047		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805047G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2835C>T	18.37:g.22805047G>A						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.L945L|ZNF521_uc002kvl.2_Silent_p.L725L	p.L945L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3082	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		945			C2H2-type 22.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.2835C>T	CCDS32806.1																																																																																				PASS	0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		89	93	89	93	---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45374941	45374941	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr18:45374941C>A	ENST00000402690.2	-	8	1296	c.902G>T	c.(901-903)gGc>gTc	p.G301V	SMAD2_ENST00000586040.1_Missense_Mutation_p.G271V|SMAD2_ENST00000591214.1_Missense_Mutation_p.G271V|SMAD2_ENST00000356825.4_Missense_Mutation_p.G271V|SMAD2_ENST00000262160.6_Missense_Mutation_p.G301V	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	301	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.G301V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GTCTGTAAAGCCATCTACAGT	0.418																																						uc002lcy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(901-903)GGC>GTC		Sma- and Mad-related protein 2 isoform 1							127.0	114.0	118.0					18																	45374941		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45374941C>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.902G>T	18.37:g.45374941C>A	ENSP00000384449:p.Gly301Val					SMAD2_uc002lcz.2_Missense_Mutation_p.G301V|SMAD2_uc010xdc.1_Missense_Mutation_p.G271V|SMAD2_uc010xdd.1_Missense_Mutation_p.G271V	p.G301V	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			8	1150	-			301			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.902G>T	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041735	0.93685	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.98329	-4.87;-4.87;-4.87	5.81	5.81	0.92471	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.992	D	0.98760	1.0724	10	0.87932	D	0	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	271;271;301	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	V	301;271;301	ENSP00000262160:G301V;ENSP00000349282:G271V;ENSP00000384449:G301V	ENSP00000262160:G301V	G	-	2	0	SMAD2	43628939	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	GGC		PASS	0.418	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		50	99	50	99	---	---	---	---
RBFA	79863	broad.mit.edu	37	18	77798604	77798604	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr18:77798604G>A	ENST00000306735.5	+	4	616	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Missense_Mutation_p.A160T|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	160					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.A160T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCAGAGAAGTGCCGCGCACAT	0.502																																						uc002lns.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GCC>ACC		hypothetical protein LOC79863 precursor							91.0	86.0	88.0					18																	77798604		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77798604G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.478G>A	18.37:g.77798604G>A	ENSP00000305696:p.Ala160Thr					C18orf22_uc010drh.2_Missense_Mutation_p.A160T|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_5'Flank	p.A160T	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	4	616	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	160					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.478G>A	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189013	0.38707	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.46063	0.88;0.91	4.68	3.79	0.43588	K homology domain-like, alpha/beta (1);Ribosome-binding factor A domain (1);	0.112977	0.39274	N	0.001405	T	0.52191	0.1719	L	0.57536	1.79	0.44042	D	0.996778	P;P	0.45715	0.865;0.858	B;P	0.53224	0.421;0.721	T	0.54483	-0.8287	10	0.62326	D	0.03	-8.1805	12.9784	0.58549	0.0:0.0:0.8367:0.1633	.	160;160	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	T	160	ENSP00000262197:A160T;ENSP00000305696:A160T	ENSP00000262197:A160T	A	+	1	0	RBFA	75899592	0.969000	0.33509	0.010000	0.14722	0.032000	0.12392	3.651000	0.54431	0.927000	0.37143	0.561000	0.74099	GCC		PASS	0.502	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		58	22	58	22	---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1081695	1081695	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:1081695G>C	ENST00000313093.2	+	18	2568	c.2337G>C	c.(2335-2337)aaG>aaC	p.K779N	HMHA1_ENST00000586866.1_Missense_Mutation_p.K783N|HMHA1_ENST00000590577.1_Missense_Mutation_p.K414N|HMHA1_ENST00000590214.1_Missense_Mutation_p.K806N|HMHA1_ENST00000543365.1_Missense_Mutation_p.K662N|HMHA1_ENST00000539243.2_Missense_Mutation_p.K795N|HMHA1_ENST00000536472.1_Missense_Mutation_p.K647N	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	779	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.K779N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCGTCAAGAAGTGCGTCT	0.701																																						uc002lqz.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2335-2337)AAG>AAC		minor histocompatibility antigen HA-1							8.0	9.0	8.0					19																	1081695		2164	4253	6417	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1081695G>C	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2337G>C	19.37:g.1081695G>C	ENSP00000316772:p.Lys779Asn					HMHA1_uc010xgd.1_Missense_Mutation_p.K795N|HMHA1_uc010xge.1_Missense_Mutation_p.K647N|HMHA1_uc002lra.1_Missense_Mutation_p.K619N|HMHA1_uc002lrb.1_Missense_Mutation_p.K662N|HMHA1_uc002lrc.1_Missense_Mutation_p.K414N|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	p.K779N	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2568	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	779			Rho-GAP.		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2337G>C	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	g	18.98	3.738093	0.69304	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.4	2.19	0.27852	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.332804	0.29522	N	0.011911	T	0.37705	0.1013	M	0.83118	2.625	0.40144	D	0.976869	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.997;0.997	D;D;D;D;D	0.79108	0.973;0.959;0.992;0.926;0.956	T	0.10613	-1.0622	10	0.59425	D	0.04	-37.2709	5.3376	0.15967	0.1911:0.1658:0.643:0.0	.	647;795;414;662;779	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	N	795;779;779;647;773;662	ENSP00000439601:K795N;ENSP00000316772:K779N;ENSP00000445109:K647N;ENSP00000438979:K662N	ENSP00000316772:K779N	K	+	3	2	HMHA1	1032695	1.000000	0.71417	0.766000	0.31476	0.868000	0.49771	0.947000	0.29082	0.276000	0.22118	0.550000	0.68814	AAG		PASS	0.701	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			4	9	4	9	---	---	---	---
SLC25A41	284427	broad.mit.edu	37	19	6429775	6429775	+	Missense_Mutation	SNP	A	A	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:6429775A>T	ENST00000321510.6	-	4	652	c.584T>A	c.(583-585)cTg>cAg	p.L195Q		NM_173637.3	NP_775908.2			solute carrier family 25, member 41									p.L195Q(1)		large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GGCCACAGCCAGGGAGCCAGC	0.577																																						uc010dus.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)CTG>CAG		solute carrier family 25, member 41							41.0	46.0	45.0					19																	6429775		1966	4156	6122	SO:0001583	missense	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6429775A>T	AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.584T>A	19.37:g.6429775A>T	ENSP00000322649:p.Leu195Gln					SLC25A41_uc010dut.2_Missense_Mutation_p.L57Q	p.L195Q	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN			4	670	-			195			Solcar 2.|Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000321510.6	37	c.584T>A	CCDS45937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	16.17|16.17	3.046798|3.046798	0.55110|0.55110	.|.	.|.	ENSG00000181240|ENSG00000181240	ENST00000321510|ENST00000458275	T|T	0.81078|0.39592	-1.45|1.07	4.53|4.53	4.53|4.53	0.55603|0.55603	Mitochondrial carrier domain (2);|.	.|0.086344	.|0.51477	.|D	.|0.000088	T|T	0.63177|0.63177	0.2489|0.2489	M|M	0.86502|0.86502	2.82|2.82	0.32438|0.32438	N|N	0.547075|0.547075	D|.	0.76494|.	0.999|.	D|.	0.79108|.	0.992|.	T|T	0.76647|0.76647	-0.2882|-0.2882	9|8	0.87932|0.87932	D|D	0|0	-18.9548|-18.9548	12.9562|12.9562	0.58430|0.58430	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	195|.	Q8N5S1|.	S2541_HUMAN|.	Q|R	195|228	ENSP00000322649:L195Q|ENSP00000405411:W228R	ENSP00000322649:L195Q|ENSP00000405411:W228R	L|W	-|-	2|1	0|0	SLC25A41|SLC25A41	6380775|6380775	1.000000|1.000000	0.71417|0.71417	0.649000|0.649000	0.29536|0.29536	0.008000|0.008000	0.06430|0.06430	6.709000|6.709000	0.74665|0.74665	1.893000|1.893000	0.54813|0.54813	0.240000|0.240000	0.17902|0.17902	CTG|TGG		PASS	0.577	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462222.1	NM_173637		25	10	25	10	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8174596	8174596	+	Missense_Mutation	SNP	C	C	T	rs376575940		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:8174596C>T	ENST00000600128.1	-	35	4789	c.4375G>A	c.(4375-4377)Gtg>Atg	p.V1459M	FBN3_ENST00000270509.2_Missense_Mutation_p.V1459M|FBN3_ENST00000601739.1_Missense_Mutation_p.V1459M			Q75N90	FBN3_HUMAN	fibrillin 3	1459	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V1459M(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTAATGCACACGCCGTTGATG	0.622																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4375-4377)GTG>ATG		fibrillin 3 precursor		C	MET/VAL	0,4406		0,0,2203	128.0	121.0	123.0		4375	0.3	0.1	19		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN3	NM_032447.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1459/2810	8174596	1,13005	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8174596C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4375G>A	19.37:g.8174596C>T	ENSP00000470498:p.Val1459Met						p.V1459M	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			34	4396	-			1459			EGF-like 23; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4375G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	1.548	-0.540053	0.04053	0.0	1.16E-4	ENSG00000142449	ENST00000270509	D	0.93366	-3.21	3.79	0.272	0.15645	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.416635	0.22426	N	0.060213	D	0.83464	0.5260	N	0.19112	0.55	0.25190	N	0.990136	B	0.19445	0.036	B	0.14578	0.011	T	0.70121	-0.4959	10	0.30078	T	0.28	.	5.1522	0.15015	0.0831:0.1512:0.6214:0.1444	.	1459	Q75N90	FBN3_HUMAN	M	1459	ENSP00000270509:V1459M	ENSP00000270509:V1459M	V	-	1	0	FBN3	8080596	0.030000	0.19436	0.143000	0.22291	0.001000	0.01503	0.522000	0.22909	-0.057000	0.13199	-1.525000	0.00928	GTG		PASS	0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		116	39	116	39	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12976218	12976218	+	Missense_Mutation	SNP	T	T	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:12976218T>C	ENST00000251472.4	+	15	1766	c.1727T>C	c.(1726-1728)aTc>aCc	p.I576T		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.I576T(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ATGGGGATCATCCTCTACGAG	0.602																																						uc002mvm.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1726-1728)ATC>ACC		microtubule associated serine/threonine kinase							132.0	117.0	122.0					19																	12976218		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12976218T>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1727T>C	19.37:g.12976218T>C	ENSP00000251472:p.Ile576Thr						p.I576T	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			15	1855	+			576			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1727T>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174470	0.78452	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.26957	1.7	4.81	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45789	-0.9237	10	0.87932	D	0	-18.7829	12.6173	0.56584	0.0:0.0:0.0:1.0	.	576	Q9Y2H9	MAST1_HUMAN	T	576	ENSP00000251472:I576T	ENSP00000251472:I576T	I	+	2	0	MAST1	12837218	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.270000	0.72563	1.950000	0.56595	0.533000	0.62120	ATC		PASS	0.602	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		163	101	163	101	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15273333	15273333	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:15273333C>T	ENST00000263388.2	-	32	5931	c.5856G>A	c.(5854-5856)gtG>gtA	p.V1952V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1952					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V1952V(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGTGGCTTCCACGTTGTTCA	0.587																																						uc002nan.2																			2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(5854-5856)GTG>GTA		Notch homolog 3 precursor							83.0	67.0	72.0					19																	15273333		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15273333C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5856G>A	19.37:g.15273333C>T							p.V1952V	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		32	5932	-			1952			Cytoplasmic (Potential).|ANK 4.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.5856G>A	CCDS12326.1																																																																																				PASS	0.587	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		24	21	24	21	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17013536	17013536	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:17013536C>A	ENST00000443236.1	-	35	4780	c.4749G>T	c.(4747-4749)tgG>tgT	p.W1583C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1536						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.W1583C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCTGGGGGCCAGTCTCCTC	0.657																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4747-4749)TGG>TGT		C3 and PZP-like, alpha-2-macroglobulin domain							32.0	38.0	36.0					19																	17013536		2007	4173	6180	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17013536C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4749G>T	19.37:g.17013536C>A	ENSP00000402505:p.Trp1583Cys					CPAMD8_uc002nfd.1_Missense_Mutation_p.W48C	p.W1583C	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			35	4781	-			1536					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4749G>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.604|3.604	-0.080991|-0.080991	0.07141|0.07141	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	1.77|1.77	0.624|0.624	0.17659|0.17659	.|Alpha-macroglobulin, receptor-binding (1);	.|0.126930	.|0.28338	.|U	.|0.015708	T|T	0.26484|0.26484	0.0647|0.0647	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.01281	.|0.0	T|T	0.02646|0.02646	-1.1129|-1.1129	5|9	.|0.37606	.|T	.|0.19	.|.	6.2584|6.2584	0.20887|0.20887	0.0:0.7345:0.0:0.2655|0.0:0.7345:0.0:0.2655	.|.	.|1536	.|Q8IZJ3	.|CPMD8_HUMAN	V|C	1594|1583	.|.	.|ENSP00000291440:W1583C	G|W	-|-	2|3	0|0	CPAMD8|CPAMD8	16874536|16874536	0.991000|0.991000	0.36638|0.36638	0.007000|0.007000	0.13788|0.13788	0.038000|0.038000	0.13279|0.13279	0.391000|0.391000	0.20784|0.20784	-0.236000|-0.236000	0.09753|0.09753	-0.687000|-0.687000	0.03738|0.03738	GGC|TGG		PASS	0.657	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		29	49	29	49	---	---	---	---
USHBP1	83878	broad.mit.edu	37	19	17369130	17369130	+	Missense_Mutation	SNP	C	C	T	rs542253135		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:17369130C>T	ENST00000252597.3	-	8	1284	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	USHBP1_ENST00000431146.2_Missense_Mutation_p.D307N|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.D371N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGGGCTTCGTCTCCTGCTCCT	0.577																																						uc002nfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)GAC>AAC		Usher syndrome 1C binding protein 1							92.0	81.0	85.0					19																	17369130		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17369130C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1111G>A	19.37:g.17369130C>T	ENSP00000252597:p.Asp371Asn					USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.D307N	p.D371N	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			8	1224	-			371						Missense_Mutation	SNP	ENST00000252597.3	37	c.1111G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	c	3.248	-0.153861	0.06585	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.17370	2.28;2.28	2.71	-0.997	0.10215	.	0.962518	0.08543	N	0.930262	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B	0.23650	0.003;0.089	B;B	0.21360	0.003;0.034	T	0.41610	-0.9499	10	0.18710	T	0.47	-0.0018	3.3507	0.07151	0.0:0.5077:0.2187:0.2736	.	307;371	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	N	371;307	ENSP00000252597:D371N;ENSP00000407902:D307N	ENSP00000252597:D371N	D	-	1	0	USHBP1	17230130	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.312000	0.19397	-0.089000	0.12484	-0.552000	0.04208	GAC		PASS	0.577	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		55	86	55	86	---	---	---	---
LRRC25	126364	broad.mit.edu	37	19	18507223	18507223	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:18507223G>C	ENST00000339007.3	-	1	1204	c.551C>G	c.(550-552)cCt>cGt	p.P184R	LRRC25_ENST00000595840.1_Missense_Mutation_p.P184R	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	184						integral component of membrane (GO:0016021)		p.P184R(1)		endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GGCCAGCACAGGGCCAGCGAT	0.657																																						uc002niw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CCT>CGT		leucine rich repeat containing 25 precursor							25.0	25.0	25.0					19																	18507223		2202	4298	6500	SO:0001583	missense	126364					integral to membrane		g.chr19:18507223G>C	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.551C>G	19.37:g.18507223G>C	ENSP00000340983:p.Pro184Arg					LRRC25_uc002nix.2_Missense_Mutation_p.P184R	p.P184R	NM_145256	NP_660299	Q8N386	LRC25_HUMAN			1	1193	-			184			Helical; (Potential).		Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.551C>G	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486125	0.26686	.	.	ENSG00000175489	ENST00000339007	T	0.31247	1.5	4.06	1.84	0.25277	.	1.420640	0.04837	N	0.439847	T	0.27134	0.0665	L	0.47716	1.5	0.09310	N	1	P	0.44578	0.838	B	0.39258	0.295	T	0.27502	-1.0072	10	0.52906	T	0.07	-0.7694	5.2273	0.15401	0.2819:0.0:0.7181:0.0	.	184	Q8N386	LRC25_HUMAN	R	184	ENSP00000340983:P184R	ENSP00000340983:P184R	P	-	2	0	LRRC25	18368223	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.115000	0.15540	0.947000	0.37659	0.491000	0.48974	CCT		PASS	0.657	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		23	29	23	29	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240178	21240178	+	Missense_Mutation	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:21240178A>G	ENST00000261560.5	+	5	1245	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	355					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N355S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGCTTTTAACCAATCCTCA	0.388																																						uc002npj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1063-1065)AAC>AGC		zinc finger protein 430							54.0	58.0	56.0					19																	21240178		2201	4290	6491	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240178A>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1064A>G	19.37:g.21240178A>G	ENSP00000261560:p.Asn355Ser					ZNF430_uc002npk.2_Missense_Mutation_p.N354S	p.N355S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1174	+			355			C2H2-type 6.		Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1064A>G	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.656201	0.00779	.	.	ENSG00000118620	ENST00000261560	T	0.07216	3.21	1.04	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.00424	-1.51	0.09310	N	1	B;B	0.27700	0.186;0.016	B;B	0.31946	0.138;0.01	T	0.42032	-0.9475	9	0.05721	T	0.95	.	6.2723	0.20961	0.5189:0.4811:0.0:0.0	.	354;355	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	S	355	ENSP00000261560:N355S	ENSP00000261560:N355S	N	+	2	0	ZNF430	21032018	0.000000	0.05858	0.016000	0.15963	0.014000	0.08584	-3.688000	0.00392	-0.631000	0.05560	-0.666000	0.03841	AAC		PASS	0.388	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		4	106	4	106	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240182	21240182	+	Silent	SNP	A	A	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:21240182A>G	ENST00000261560.5	+	5	1249	c.1068A>G	c.(1066-1068)caA>caG	p.Q356Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	356					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q356Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTTAACCAATCCTCAACCC	0.383																																						uc002npj.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1066-1068)CAA>CAG		zinc finger protein 430							53.0	57.0	56.0					19																	21240182		2201	4290	6491	SO:0001819	synonymous_variant	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240182A>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1068A>G	19.37:g.21240182A>G						ZNF430_uc002npk.2_Silent_p.Q355Q	p.Q356Q	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1178	+			356			C2H2-type 6.		Q86V70	Silent	SNP	ENST00000261560.5	37	c.1068A>G	CCDS32978.1																																																																																				PASS	0.383	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		4	107	4	107	---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21719898	21719898	+	Missense_Mutation	SNP	A	A	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:21719898A>C	ENST00000358491.4	+	4	1251	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K348T(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAATGTGGCAAAGCCTTTAAC	0.398																																						uc002nqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1042-1044)AAA>ACA		zinc finger protein 429							38.0	42.0	40.0					19																	21719898		2160	4278	6438	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719898A>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1043A>C	19.37:g.21719898A>C	ENSP00000351280:p.Lys348Thr					ZNF429_uc010ecu.1_Intron	p.K348T	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	1180	+			348			C2H2-type 8.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1043A>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.516692	0.44763	.	.	ENSG00000197013	ENST00000358491	T	0.35236	1.32	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58906	0.2155	M	0.88181	2.935	0.28862	N	0.895467	D	0.67145	0.996	D	0.67382	0.951	T	0.52155	-0.8613	9	0.87932	D	0	.	6.7189	0.23318	1.0:0.0:0.0:0.0	.	348	Q86V71	ZN429_HUMAN	T	348	ENSP00000351280:K348T	ENSP00000351280:K348T	K	+	2	0	ZNF429	21511738	0.971000	0.33674	0.958000	0.39756	0.959000	0.62525	2.635000	0.46537	0.251000	0.21505	0.248000	0.18094	AAA		PASS	0.398	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		23	77	23	77	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36220127	36220127	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:36220127C>A	ENST00000222270.7	+	22	4847	c.4847C>A	c.(4846-4848)gCg>gAg	p.A1616E	KMT2B_ENST00000420124.1_Missense_Mutation_p.A1616E|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1616					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1618E(1)									ATCTGGTCGGCGGAAGTCTTC	0.632																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4846-4848)GCG>GAG		myeloid/lymphoid or mixed-lineage leukemia 4							49.0	49.0	49.0					19																	36220127		2128	4242	6370	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36220127C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4847C>A	19.37:g.36220127C>A	ENSP00000222270:p.Ala1616Glu						p.A1616E	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		23	4847	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1616					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.4847C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766463	0.49574	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.70282	-0.47;-0.47	4.98	4.98	0.66077	.	0.000000	0.44688	D	0.000440	T	0.79764	0.4502	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80989	-0.1136	10	0.62326	D	0.03	.	17.1858	0.86866	0.0:1.0:0.0:0.0	.	1616	Q9UMN6	MLL4_HUMAN	E	1616	ENSP00000222270:A1616E;ENSP00000398837:A1616E	ENSP00000222270:A1616E	A	+	2	0	AD000671.1	40911967	1.000000	0.71417	0.996000	0.52242	0.175000	0.22909	7.567000	0.82357	2.599000	0.87857	0.655000	0.94253	GCG		PASS	0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		3	25	3	25	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36223655	36223655	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:36223655G>C	ENST00000222270.7	+	28	6205	c.6205G>C	c.(6205-6207)Gac>Cac	p.D2069H	KMT2B_ENST00000420124.1_Missense_Mutation_p.D2069H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2069					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D2071H(1)									CGACGGCACTGACAGTGAGGC	0.706																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(6205-6207)GAC>CAC		myeloid/lymphoid or mixed-lineage leukemia 4																																				SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36223655G>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6205G>C	19.37:g.36223655G>C	ENSP00000222270:p.Asp2069His						p.D2069H	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	6205	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2069					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.6205G>C	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312987	0.23908	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.86230	-2.09;-2.09	4.32	4.32	0.51571	.	0.000000	0.47455	D	0.000227	D	0.90625	0.7060	L	0.46157	1.445	0.54753	D	0.999986	D	0.89917	1.0	D	0.71184	0.972	D	0.90970	0.4819	10	0.52906	T	0.07	.	16.087	0.81065	0.0:0.0:1.0:0.0	.	2069	Q9UMN6	MLL4_HUMAN	H	2069	ENSP00000222270:D2069H;ENSP00000398837:D2069H	ENSP00000222270:D2069H	D	+	1	0	AD000671.1	40915495	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	7.803000	0.85983	2.405000	0.81733	0.462000	0.41574	GAC		PASS	0.706	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		9	12	9	12	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42819206	42819206	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:42819206G>T	ENST00000301204.3	+	6	523	c.482G>T	c.(481-483)cGa>cTa	p.R161L	TMEM145_ENST00000598766.1_Missense_Mutation_p.R185L	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	161					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.R161L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TTCTGGACACGACACTTCTCC	0.597																																						uc002otk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CGA>CTA		transmembrane protein 145							133.0	115.0	121.0					19																	42819206		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819206G>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.482G>T	19.37:g.42819206G>T	ENSP00000301204:p.Arg161Leu						p.R161L	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			6	534	+		Prostate(69;0.00682)	161						Missense_Mutation	SNP	ENST00000301204.3	37	c.482G>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042311	0.55003	.	.	ENSG00000167619	ENST00000301204	T	0.43294	0.95	4.62	4.62	0.57501	Rhodopsin-like GPCR transmembrane domain (1);	0.171165	0.39020	N	0.001482	T	0.30792	0.0776	L	0.29908	0.895	0.43238	D	0.995147	B	0.33748	0.423	B	0.30179	0.112	T	0.09552	-1.0669	10	0.29301	T	0.29	-12.5047	15.3401	0.74290	0.0:0.0:1.0:0.0	.	161	Q8NBT3	TM145_HUMAN	L	161	ENSP00000301204:R161L	ENSP00000301204:R161L	R	+	2	0	TMEM145	47511046	1.000000	0.71417	0.898000	0.35279	0.973000	0.67179	4.445000	0.60007	2.281000	0.76405	0.557000	0.71058	CGA		PASS	0.597	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		44	94	44	94	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44341242	44341242	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:44341242C>A	ENST00000324461.7	+	6	545	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	ZNF283_ENST00000593268.1_Missense_Mutation_p.S83Y|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000310738.8_Missense_Mutation_p.S47Y|ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000590950.1_Missense_Mutation_p.S58Y|ZNF283_ENST00000593164.1_Missense_Mutation_p.S58Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S83Y(1)|p.S16Y(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				ATCGACTTCTCTCAGGAGGAG	0.443																																						uc002oxr.3																			2	Substitution - Missense(2)		lung(2)		0						c.(247-249)TCT>TAT		zinc finger protein 283							165.0	177.0	173.0					19																	44341242		2203	4300	6503	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44341242C>A	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.248C>A	19.37:g.44341242C>A	ENSP00000327314:p.Ser83Tyr					ZNF283_uc002oxp.3_Intron	p.S83Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			6	516	+		Prostate(69;0.0352)	83			KRAB.		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.248C>A	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405568	0.62288	.	.	ENSG00000167637	ENST00000324461;ENST00000310738	T;T	0.02944	4.1;4.1	4.09	3.02	0.34903	Krueppel-associated box (4);	.	.	.	.	T	0.27454	0.0674	H	0.99130	4.44	0.22629	N	0.998912	D	0.76494	0.999	D	0.71870	0.975	T	0.38178	-0.9673	9	0.87932	D	0	.	11.3463	0.49563	0.0:0.8145:0.1855:0.0	.	83	Q8N7M2	ZN283_HUMAN	Y	83;47	ENSP00000327314:S83Y;ENSP00000312519:S47Y	ENSP00000312519:S47Y	S	+	2	0	ZNF283	49033082	0.182000	0.23173	1.000000	0.80357	0.997000	0.91878	1.774000	0.38573	0.897000	0.36392	0.591000	0.81541	TCT		PASS	0.443	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		4	182	4	182	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46351143	46351143	+	Silent	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:46351143G>A	ENST00000245934.7	-	7	787	c.543C>T	c.(541-543)acC>acT	p.T181T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	181					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.T181T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGATGGCGTGGGTGCGGATGC	0.587																																						uc002pdn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(541-543)ACC>ACT		symplekin							123.0	98.0	107.0					19																	46351143		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351143G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.543C>T	19.37:g.46351143G>A						SYMPK_uc002pdo.1_Silent_p.T181T|SYMPK_uc002pdp.1_Silent_p.T181T|SYMPK_uc002pdq.1_Silent_p.T181T	p.T181T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	788	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	181					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.543C>T	CCDS12676.2																																																																																				PASS	0.587	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		30	50	30	50	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50918710	50918710	+	Silent	SNP	G	G	T	rs374533728		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:50918710G>T	ENST00000440232.2	+	21	2633	c.2580G>T	c.(2578-2580)gcG>gcT	p.A860A	POLD1_ENST00000599857.1_Silent_p.A860A|POLD1_ENST00000595904.1_Silent_p.A886A|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	860					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.A860A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGAGGGCGCGGTGGCTCACG	0.657								DNA polymerases (catalytic subunits)																														uc002psb.3																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(2578-2580)GCG>GCT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							39.0	32.0	34.0					19																	50918710		2197	4293	6490	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918710G>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2580G>T	19.37:g.50918710G>T						POLD1_uc002psc.3_Silent_p.A860A|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.A886A	p.A860A	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	21	2636	+		all_neural(266;0.0571)	860					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.2580G>T	CCDS12795.1																																																																																				PASS	0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			34	35	34	35	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53668521	53668521	+	Missense_Mutation	SNP	C	C	T	rs375884834	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:53668521C>T	ENST00000600412.1	-	2	1142	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	ZNF665_ENST00000396424.3_Missense_Mutation_p.V408I|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V408I(1)|p.V343I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAACCTTGACGCATTCATTA	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23227	0.0		0.0	False		,,,				2504	0.0					uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1222-1224)GTC>ATC		zinc finger protein 665		C	ILE/VAL	0,4400		0,0,2200	98.0	104.0	102.0		1222	-2.7	0.0	19		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF665	NM_024733.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	408/679	53668521	1,12999	2200	4300	6500	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668521C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1027G>A	19.37:g.53668521C>T	ENSP00000469154:p.Val343Ile						p.V408I	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1322	-			343			C2H2-type 9.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1222G>A		.	.	.	.	.	.	.	.	.	.	C	9.628	1.135612	0.21123	0.0	1.16E-4	ENSG00000197497	ENST00000396424	T	0.07567	3.18	2.03	-2.67	0.06059	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	P	0.42203	0.773	B	0.34452	0.183	T	0.32508	-0.9904	9	0.87932	D	0	.	2.9713	0.05924	0.2083:0.5105:0.0:0.2812	.	408	Q9H7R5-2	.	I	408	ENSP00000379702:V408I	ENSP00000379702:V408I	V	-	1	0	ZNF665	58360333	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.233000	0.09041	-0.705000	0.05035	-0.694000	0.03704	GTC		PASS	0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		21	100	21	100	---	---	---	---
LAIR2	3904	broad.mit.edu	37	19	55019392	55019392	+	Silent	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:55019392G>C	ENST00000301202.2	+	3	479	c.357G>C	c.(355-357)ctG>ctC	p.L119L	LAIR2_ENST00000351841.2_Silent_p.L119L	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	119						extracellular region (GO:0005576)		p.L119L(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TGGAGCTGCTGGTGAAAGGTA	0.577																																						uc002qgc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(355-357)CTG>CTC		leukocyte-associated immunoglobulin-like							78.0	82.0	81.0					19																	55019392		2203	4300	6503	SO:0001819	synonymous_variant	3904					extracellular region	receptor activity	g.chr19:55019392G>C	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.357G>C	19.37:g.55019392G>C						LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Silent_p.L119L|LAIR2_uc010erl.2_Intron	p.L119L	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	479	+	Ovarian(34;0.19)		119					Q6PEZ4	Silent	SNP	ENST00000301202.2	37	c.357G>C	CCDS12897.1																																																																																				PASS	0.577	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			59	104	59	104	---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58639614	58639614	+	Silent	SNP	C	C	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr19:58639614C>T	ENST00000598312.1	-	4	1490	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	ZNF329_ENST00000358067.4_Silent_p.R419R	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	419					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.R419R(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CAGTATGAATCCTCTGATGCC	0.468																																						uc002qrn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1255-1257)AGG>AGA		zinc finger protein 329							80.0	69.0	73.0					19																	58639614		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639614C>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1257G>A	19.37:g.58639614C>T						ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.R419R	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1494	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	419			C2H2-type 8.		B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.1257G>A	CCDS12972.1																																																																																				PASS	0.468	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		20	76	20	76	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2384444	2384444	+	Silent	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr20:2384444C>A	ENST00000202625.2	+	9	1372	c.1311C>A	c.(1309-1311)atC>atA	p.I437I	TGM6_ENST00000381423.1_Silent_p.I437I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	437					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.I437I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCGTGGACATCACTGACCTCT	0.592																																						uc002wfy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1309-1311)ATC>ATA		transglutaminase 6	L-Glutamine(DB00130)						115.0	112.0	113.0					20																	2384444		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384444C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1311C>A	20.37:g.2384444C>A						TGM6_uc010gal.1_Silent_p.I437I	p.I437I	NM_198994	NP_945345	O95932	TGM3L_HUMAN			9	1372	+			437					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.1311C>A	CCDS13025.1																																																																																				PASS	0.592	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		88	132	88	132	---	---	---	---
LBP	3929	broad.mit.edu	37	20	36975018	36975018	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr20:36975018G>T	ENST00000217407.2	+	1	260	c.99G>T	c.(97-99)agG>agT	p.R33S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	33					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.R33S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGGTCGCCAGGATCACCGACA	0.627																																						uc002xic.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(97-99)AGG>AGT		lipopolysaccharide-binding protein precursor							62.0	57.0	59.0					20																	36975018		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36975018G>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.99G>T	20.37:g.36975018G>T	ENSP00000217407:p.Arg33Ser						p.R33S	NM_004139	NP_004130	P18428	LBP_HUMAN			1	134	+		Myeloproliferative disorder(115;0.00878)	33					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.99G>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132088	0.37630	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.12984	2.63	4.53	3.57	0.40892	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000001	T	0.33000	0.0848	M	0.78801	2.425	0.36037	D	0.839839	D	0.69078	0.997	D	0.67725	0.953	T	0.42189	-0.9466	10	0.59425	D	0.04	-26.7559	9.1876	0.37180	0.1048:0.0:0.8952:0.0	.	33	P18428	LBP_HUMAN	S	33	ENSP00000217407:R33S	ENSP00000217407:R33S	R	+	3	2	LBP	36408432	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	3.089000	0.50183	1.209000	0.43321	-0.258000	0.10820	AGG		PASS	0.627	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		36	10	36	10	---	---	---	---
LBP	3929	broad.mit.edu	37	20	36989421	36989421	+	Splice_Site	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr20:36989421G>T	ENST00000217407.2	+	6	813	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	218					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.V218F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AACTCTGCCAGGTAGGACACC	0.388																																						uc002xic.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(652-654)GTT>TTT		lipopolysaccharide-binding protein precursor							156.0	153.0	154.0					20																	36989421		2203	4300	6503	SO:0001630	splice_region_variant	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36989421G>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.652+1G>T	20.37:g.36989421G>T							p.V218F	NM_004139	NP_004130	P18428	LBP_HUMAN			6	687	+		Myeloproliferative disorder(115;0.00878)	218					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.652G>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672405	0.67928	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.05996	3.36	5.28	5.28	0.74379	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000005	T	0.29491	0.0735	M	0.85945	2.785	0.49389	D	0.999782	D	0.89917	1.0	D	0.78314	0.991	T	0.02059	-1.1221	10	0.87932	D	0	-38.0784	16.4665	0.84080	0.0:0.0:1.0:0.0	.	218	P18428	LBP_HUMAN	F	218	ENSP00000217407:V218F	ENSP00000217407:V218F	V	+	1	0	LBP	36422835	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	5.369000	0.66138	2.756000	0.94617	0.655000	0.94253	GTT		PASS	0.388	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	Missense_Mutation	84	30	84	30	---	---	---	---
IGLV1-47	28822	broad.mit.edu	37	22	22712342	22712342	+	RNA	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:22712342G>A	ENST00000390294.2	+	0	141									immunoglobulin lambda variable 1-47																		GCCACCCTCAGCGTCTGGGAC	0.547																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							38.0	37.0	37.0					22																	22712342		1826	4077	5903			96610							g.chr22:22712342G>A	Z73663		22q11.2	2012-02-08			ENSG00000211648	ENSG00000211648		"""Immunoglobulins / IGL locus"""	5880	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151048		22.37:g.22712342G>A														41		+									RNA	SNP	ENST00000390294.2	37	c.4130G>A																																																																																					PASS	0.547	IGLV1-47-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321108.2	NG_000002		53	80	53	80	---	---	---	---
IGLV1-44	28823	broad.mit.edu	37	22	22735700	22735700	+	RNA	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:22735700G>A	ENST00000390297.2	+	0	451									immunoglobulin lambda variable 1-44																		AGCATGGGATGACAGCCTGAA	0.582																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							73.0	80.0	78.0					22																	22735700		1914	4142	6056			96610							g.chr22:22735700G>A	Z73654		22q11.2	2012-02-08			ENSG00000211651	ENSG00000211651		"""Immunoglobulins / IGL locus"""	5879	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151050		22.37:g.22735700G>A														46		+									RNA	SNP	ENST00000390297.2	37	c.5496G>A																																																																																					PASS	0.582	IGLV1-44-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321110.1	NG_000002		63	103	63	103	---	---	---	---
GGTLC2	91227	broad.mit.edu	37	22	22989255	22989255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:22989255G>T	ENST00000480559.1	+	2	208	c.208G>T	c.(208-210)Gag>Tag	p.E70*	GGTLC2_ENST00000448514.1_Nonsense_Mutation_p.E70*|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	70			E -> G (in dbSNP:rs2904923). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8830654}.		glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)	p.E70*(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CCCGGTCAGCGAGATCCTGTT	0.582																																						uc010gtt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(208-210)GAG>TAG		gamma-glutamyltransferase-like 4 isoform 1							67.0	72.0	70.0					22																	22989255		2203	4296	6499	SO:0001587	stop_gained	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989255G>T	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.208G>T	22.37:g.22989255G>T	ENSP00000419751:p.Glu70*					LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Nonsense_Mutation_p.E70*	p.E70*	NM_199127	NP_954578	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	242	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	70					A1A516|A2VCM9|Q5NV76|Q6ISH0	Nonsense_Mutation	SNP	ENST00000480559.1	37	c.208G>T	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	g	13.64	2.298104	0.40694	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	.	.	.	.	.	.	.	0.058434	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.6147	5.8178	0.18506	0.001:0.0:0.999:0.0	.	.	.	.	X	70	.	ENSP00000415676:E70X	E	+	1	0	GGTLC2	21319255	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	4.298000	0.59067	-0.000000	0.14550	0.000000	0.15137	GAG		PASS	0.582	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		73	112	73	112	---	---	---	---
IFT27	11020	broad.mit.edu	37	22	37163876	37163876	+	Missense_Mutation	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:37163876G>C	ENST00000433985.2	-	2	485	c.65C>G	c.(64-66)gCa>gGa	p.A22G	IFT27_ENST00000340630.5_Missense_Mutation_p.A21G|IFT27_ENST00000453009.2_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	22					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)	p.A21G(1)		endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAAGATCTGTGCCAGGGCGGT	0.522																																						uc003apv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GCA>GGA		RAB, member of RAS oncogene family-like 4							230.0	215.0	220.0					22																	37163876		2203	4300	6503	SO:0001583	missense	11020				small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37163876G>C	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	protein-coding gene	gene with protein product		615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.65C>G	22.37:g.37163876G>C	ENSP00000393541:p.Ala22Gly					IFT27_uc003apu.1_Missense_Mutation_p.A21G|IFT27_uc003apw.1_Missense_Mutation_p.A22G|IFT27_uc010gwy.1_Missense_Mutation_p.A22G	p.A22G	NM_006860	NP_006851	Q9BW83	IFT27_HUMAN			2	428	-			22					O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.65C>G	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588238	0.28357	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.5	3.47	0.39725	Small GTP-binding protein domain (1);	0.332281	0.27591	N	0.018682	T	0.73410	0.3583	M	0.62723	1.935	0.80722	D	1	P;B;B;B	0.35033	0.481;0.383;0.383;0.082	B;B;B;B	0.38500	0.275;0.122;0.186;0.098	T	0.72364	-0.4316	10	0.87932	D	0	.	6.0578	0.19820	0.3179:0.0:0.6821:0.0	.	61;21;22;21	F5GZ09;B1AH58;Q9BW83;Q9BW83-2	.;.;IFT27_HUMAN;.	G	21;22;61;21	ENSP00000343593:A21G;ENSP00000393541:A22G;ENSP00000392016:A61G;ENSP00000390016:A21G	ENSP00000343593:A21G	A	-	2	0	IFT27	35493822	0.998000	0.40836	0.782000	0.31804	0.412000	0.31113	3.005000	0.49521	0.856000	0.35383	0.561000	0.74099	GCA		PASS	0.522	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_006860		168	334	168	334	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37770143	37770143	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:37770143C>A	ENST00000402918.2	-	3	2217	c.1432G>T	c.(1432-1434)Ggg>Tgg	p.G478W	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	478					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.G478W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCTTCTCCCCGATCATGGAG	0.667																																						uc003asq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1432-1434)GGG>TGG		leucine rich repeat containing 62							63.0	66.0	65.0					22																	37770143		2203	4299	6502	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37770143C>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1432G>T	22.37:g.37770143C>A	ENSP00000385277:p.Gly478Trp						p.G478W	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2218	-	Melanoma(58;0.0574)		478			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1432G>T	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.501916	0.44455	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.56444	0.46;0.46	4.77	4.77	0.60923	.	0.175706	0.40144	N	0.001175	T	0.54095	0.1837	M	0.65498	2.005	0.51012	D	0.999902	B	0.28900	0.227	B	0.26310	0.068	T	0.60255	-0.7299	10	0.87932	D	0	-36.5529	17.7946	0.88566	0.0:1.0:0.0:0.0	.	478	Q5R3F8	PPR29_HUMAN	W	478	ENSP00000300147:G478W;ENSP00000385277:G478W	ENSP00000300147:G478W	G	-	1	0	ELFN2	36100089	0.828000	0.29307	0.995000	0.50966	0.974000	0.67602	3.452000	0.52971	2.187000	0.69744	0.609000	0.83330	GGG		PASS	0.667	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		70	105	70	105	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38109217	38109217	+	Splice_Site	SNP	G	G	C			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:38109217G>C	ENST00000406386.3	+	5	510	c.255G>C	c.(253-255)agG>agC	p.R85S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	85					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.R85S(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)					CCTCTCCCAGGGGCCCATCCC	0.642																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(253-255)AGG>AGC		TRIO and F-actin binding protein isoform 6							21.0	26.0	25.0					22																	38109217		1901	4116	6017	SO:0001630	splice_region_variant	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.chr22:38109217G>C	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.255-1G>C	22.37:g.38109217G>C						TRIOBP_uc003atu.2_Intron|TRIOBP_uc003atq.1_Missense_Mutation_p.R85S|TRIOBP_uc003ats.1_Intron	p.R85S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			5	526	+	Melanoma(58;0.0574)		85					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.255G>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049555	0.36181	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21932	1.98	4.54	1.12	0.20585	.	.	.	.	.	T	0.10508	0.0257	N	0.19112	0.55	0.53688	D	0.999973	B	0.19445	0.036	B	0.18263	0.021	T	0.19386	-1.0307	8	.	.	.	.	5.0844	0.14675	0.1853:0.169:0.6458:0.0	.	85	Q9H2D6	TARA_HUMAN	S	85	ENSP00000384312:R85S	.	R	+	3	2	TRIOBP	36439163	0.658000	0.27402	0.380000	0.26093	0.656000	0.38851	0.758000	0.26447	0.226000	0.20979	0.650000	0.86243	AGG		PASS	0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		Missense_Mutation	23	25	23	25	---	---	---	---
APOBEC3H	164668	broad.mit.edu	37	22	39496312	39496312	+	Missense_Mutation	SNP	G	G	T	rs372088508		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:39496312G>T	ENST00000401756.1	+	2	105	c.29G>T	c.(28-30)cGc>cTc	p.R10L	APOBEC3H_ENST00000442487.3_Missense_Mutation_p.R10L|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.R10L|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.R10L	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	10					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)	p.R10L(1)		central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					GAAACATTCCGCTTACAGTTT	0.542																																						uc011aoh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(28-30)CGC>CTC		apolipoprotein B mRNA editing enzyme, catalytic							92.0	83.0	86.0					22																	39496312		2203	4300	6503	SO:0001583	missense	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39496312G>T	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.29G>T	22.37:g.39496312G>T	ENSP00000385741:p.Arg10Leu					APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank	p.R10L	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN			2	95	+	Melanoma(58;0.04)		10					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	37	c.29G>T	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	9.514	1.106391	0.20632	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.63417	0.04;0.04;-0.04;0.01	3.08	-6.15	0.02105	.	.	.	.	.	T	0.33990	0.0882	N	0.14661	0.345	0.09310	N	1	B	0.19331	0.035	B	0.23150	0.044	T	0.28870	-1.0030	9	0.11794	T	0.64	-16.487	5.5577	0.17125	0.3908:0.0:0.4734:0.1359	.	10	B7TQM3	.	L	10	ENSP00000216123:R10L;ENSP00000411754:R10L;ENSP00000393520:R10L;ENSP00000385741:R10L	ENSP00000216123:R10L	R	+	2	0	APOBEC3H	37826258	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.007000	0.03667	-1.548000	0.01712	0.462000	0.41574	CGC		PASS	0.542	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		60	104	60	104	---	---	---	---
FAM83F	113828	broad.mit.edu	37	22	40415247	40415247	+	Silent	SNP	C	C	A	rs147568761		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:40415247C>A	ENST00000333407.6	+	2	659	c.565C>A	c.(565-567)Cgg>Agg	p.R189R	FAM83F_ENST00000473717.1_Silent_p.R21R	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	189								p.R189R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTAAGCGCCGGGTCCCAGT	0.532																																						uc003ayk.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(565-567)CGG>AGG		hypothetical protein LOC113828							186.0	143.0	158.0					22																	40415247		2203	4300	6503	SO:0001819	synonymous_variant	113828							g.chr22:40415247C>A		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.565C>A	22.37:g.40415247C>A							p.R189R	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			2	659	+			189					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.565C>A	CCDS14000.2																																																																																				PASS	0.532	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		59	108	59	108	---	---	---	---
TTLL8	164714	broad.mit.edu	37	22	50483723	50483723	+	Missense_Mutation	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr22:50483723T>A	ENST00000266182.6	-	6	603	c.604A>T	c.(604-606)Agg>Tgg	p.R202W	TTLL8_ENST00000477219.1_5'Flank|TTLL8_ENST00000440475.1_Missense_Mutation_p.R202W			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	238					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.R202W(1)|p.R238W(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCCTCCTCCCTCTGGTCCCTG	0.682																																						uc011ark.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(604-606)AGG>TGG		tubulin tyrosine ligase-like family, member 8							33.0	38.0	36.0					22																	50483723		2177	4275	6452	SO:0001583	missense	164714							g.chr22:50483723T>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.604A>T	22.37:g.50483723T>A	ENSP00000266182:p.Arg202Trp						p.R202W	NM_001080447	NP_001073916				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	6	604	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.604A>T		.	.	.	.	.	.	.	.	.	.	t	15.94	2.980736	0.53827	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.47177	3.53;0.85;0.85	4.89	-9.78	0.00496	.	3.861390	0.00597	N	0.000365	T	0.30448	0.0765	N	0.14661	0.345	0.09310	N	1	P	0.47034	0.889	B	0.43018	0.405	T	0.53092	-0.8487	10	0.66056	D	0.02	.	10.4345	0.44428	0.2022:0.0:0.6274:0.1705	.	202	B5MDV0	.	W	202;202;238	ENSP00000266182:R202W;ENSP00000387509:R202W;ENSP00000392252:R238W	ENSP00000266182:R202W	R	-	1	2	TTLL8	48825850	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.747000	0.04823	-1.419000	0.02012	-0.865000	0.03005	AGG		PASS	0.682	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		11	15	11	15	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21549999	21549999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:21549999G>T	ENST00000379510.3	+	11	1153	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	CNKSR2_ENST00000425654.2_Nonsense_Mutation_p.E373*|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E324*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E373*	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	373	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E373*(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTCCTTGTGAAGACCTCAG	0.393																																						uc004czx.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1117-1119)GAA>TAA		connector enhancer of kinase suppressor of Ras							77.0	74.0	75.0					X																	21549999		2202	4299	6501	SO:0001587	stop_gained	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21549999G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1117G>T	X.37:g.21549999G>T	ENSP00000368824:p.Glu373*					CNKSR2_uc004czw.2_Nonsense_Mutation_p.E373*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.E324*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.E373*|CNKSR2_uc004czy.2_5'UTR	p.E373*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			11	1153	+			373			DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Nonsense_Mutation	SNP	ENST00000379510.3	37	c.1117G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	g	39	7.346701	0.98228	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.54	5.54	0.83059	.	0.236733	0.44688	D	0.000434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-8.6914	18.4882	0.90836	0.0:0.0:1.0:0.0	.	.	.	.	X	373;324;373;373	.	ENSP00000279451:E373X	E	+	1	0	CNKSR2	21459920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.024000	0.93689	2.307000	0.77673	0.534000	0.68092	GAA		PASS	0.393	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		60	11	60	11	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30236958	30236958	+	Missense_Mutation	SNP	C	C	G			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:30236958C>G	ENST00000378988.4	+	2	362	c.261C>G	c.(259-261)agC>agG	p.S87R		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	87								p.S87R(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GTGCCAAGAGCCACCAAGGTG	0.552																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(259-261)AGC>AGG		melanoma antigen family B, 2							30.0	28.0	29.0					X																	30236958		2201	4296	6497	SO:0001583	missense	4113						protein binding	g.chrX:30236958C>G	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.261C>G	X.37:g.30236958C>G	ENSP00000368273:p.Ser87Arg						p.S87R	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	364	+			87					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.261C>G	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	2.493	-0.316885	0.05386	.	.	ENSG00000099399	ENST00000378988	T	0.05786	3.39	0.0465	0.0465	0.14256	Melanoma associated antigen, MAGE, N-terminal (1);	0.827574	0.10956	N	0.615459	T	0.10078	0.0247	M	0.84326	2.69	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.26121	-1.0112	9	0.49607	T	0.09	.	.	.	.	.	87	O15479	MAGB2_HUMAN	R	87	ENSP00000368273:S87R	ENSP00000368273:S87R	S	+	3	2	MAGEB2	30146879	0.026000	0.19158	0.002000	0.10522	0.060000	0.15804	0.145000	0.16157	0.122000	0.18314	0.124000	0.15798	AGC		PASS	0.552	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		9	1	9	1	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48163038	48163038	+	RNA	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:48163038C>A	ENST00000608568.1	-	0	367					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.?(1)		breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						CATCTACTCACCCTGATTCCT	0.493																																						uc010nib.1																			1	Unknown(1)		lung(1)								c.e4+1		synovial sarcoma, X breakpoint 9							140.0	132.0	134.0					X																	48163038		2203	4297	6500			0							g.chrX:48163038C>A	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48163038C>A							p.V94_splice	NM_174962	NP_777622					4	367	-									Splice_Site	SNP	ENST00000608568.1	37	c.280_splice		.	.	.	.	.	.	.	.	.	.	N	1.726	-0.495316	0.04291	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	.	.	.	1.51	0.617	0.17619	.	.	.	.	.	.	.	.	.	.	.	0.21020	N	0.99981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8079	0.08785	0.0:0.7459:0.0:0.2541	.	.	.	.	.	-1	.	.	.	-	.	.	SSX9	48047982	0.255000	0.24002	0.016000	0.15963	0.071000	0.16799	1.222000	0.32515	0.134000	0.18681	-1.268000	0.01426	.		PASS	0.493	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		83	23	83	23	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64141803	64141803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:64141803G>T	ENST00000374839.3	-	2	225	c.119C>A	c.(118-120)tCa>tAa	p.S40*	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Nonsense_Mutation_p.S17*|ZC4H2_ENST00000545618.1_Nonsense_Mutation_p.S35*|ZC4H2_ENST00000447788.2_Nonsense_Mutation_p.S40*	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	40					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.S40*(2)|p.S40L(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTTTCCTCTGACTCAAGTGC	0.507																																						uc004dvu.2																			3	Substitution - Nonsense(2)|Substitution - Missense(1)	p.S40L(1)	lung(2)|ovary(1)	ovary(1)	1						c.(118-120)TCA>TAA		zinc finger, C4H2 domain containing							158.0	107.0	124.0					X																	64141803		2203	4300	6503	SO:0001587	stop_gained	55906						metal ion binding|protein binding	g.chrX:64141803G>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.119C>A	X.37:g.64141803G>T	ENSP00000363972:p.Ser40*					ZC4H2_uc004dvv.2_Nonsense_Mutation_p.S17*|ZC4H2_uc011mov.1_Nonsense_Mutation_p.S17*|ZC4H2_uc011mow.1_Nonsense_Mutation_p.S40*|ZC4H2_uc004dvw.1_Nonsense_Mutation_p.S40*	p.S40*	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			2	207	-			40			Potential.		B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Nonsense_Mutation	SNP	ENST00000374839.3	37	c.119C>A	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205654	0.95033	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.48	4.56	0.56223	.	0.060317	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.5338	0.56131	0.0:0.1647:0.8353:0.0	.	.	.	.	X	40;35;40;17	.	ENSP00000338650:S17X	S	-	2	0	ZC4H2	64058528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.166000	0.64965	2.436000	0.82500	0.600000	0.82982	TCA		PASS	0.507	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		29	4	29	4	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65427994	65427994	+	Silent	SNP	T	T	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:65427994T>A	ENST00000343002.2	+	14	3133	c.2469T>A	c.(2467-2469)acT>acA	p.T823T	HEPH_ENST00000374727.3_Silent_p.T826T|HEPH_ENST00000441993.2_Silent_p.T826T|HEPH_ENST00000519389.1_Silent_p.T877T|HEPH_ENST00000336279.5_Silent_p.T556T|HEPH_ENST00000419594.1_Silent_p.T634T			Q9BQS7	HEPH_HUMAN	hephaestin	823	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.T823T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATATCCTGACTGTGGTATTCA	0.428																																						uc011moz.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(2476-2478)ACT>ACA		hephaestin isoform a							85.0	63.0	70.0					X																	65427994		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427994T>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2469T>A	X.37:g.65427994T>A						HEPH_uc004dwn.2_Silent_p.T826T|HEPH_uc004dwo.2_Silent_p.T556T|HEPH_uc010nkr.2_Silent_p.T634T|HEPH_uc011mpa.1_Silent_p.T826T|HEPH_uc010nks.2_Silent_p.T115T	p.T826T	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			15	2538	+			823			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2478T>A																																																																																					PASS	0.428	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		20	4	20	4	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78427296	78427296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:78427296C>A	ENST00000276077.1	+	1	828	c.792C>A	c.(790-792)tgC>tgA	p.C264*		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C264*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTAAAAGCTGCCTAGCCAGAA	0.383										HNSCC(63;0.18)																												uc004edg.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(790-792)TGC>TGA		putative purinergic receptor FKSG79							132.0	114.0	120.0					X																	78427296		2203	4300	6503	SO:0001587	stop_gained	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427296C>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.792C>A	X.37:g.78427296C>A	ENSP00000276077:p.Cys264*	HNSCC(63;0.18)					p.C264*	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	828	+			264			Extracellular (Potential).		Q2M3F7	Nonsense_Mutation	SNP	ENST00000276077.1	37	c.792C>A	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591859	0.86953	.	.	ENSG00000147138	ENST00000276077	.	.	.	5.25	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.591	0.50945	0.0:0.9111:0.0:0.0889	.	.	.	.	X	264	.	ENSP00000276077:C264X	C	+	3	2	GPR174	78313952	0.029000	0.19370	0.999000	0.59377	0.903000	0.53119	0.402000	0.20965	0.989000	0.38761	0.534000	0.68092	TGC		PASS	0.383	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		34	58	34	58	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86888827	86888827	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:86888827G>T	ENST00000373119.4	+	8	1773	c.1628G>T	c.(1627-1629)tGg>tTg	p.W543L	KLHL4_ENST00000373114.4_Missense_Mutation_p.W543L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	543						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.W543L(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTAGAAAGATGGGACCCTGAG	0.403																																						uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1627-1629)TGG>TTG		kelch-like 4 isoform 1							154.0	123.0	133.0					X																	86888827		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888827G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1628G>T	X.37:g.86888827G>T	ENSP00000362211:p.Trp543Leu					KLHL4_uc004efa.2_Missense_Mutation_p.W543L	p.W543L	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			8	1810	+			543			Kelch 3.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1628G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580504	0.86645	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.75704	-0.96;-0.96	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	L	0.42529	1.33	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.972	D	0.84068	0.0378	10	0.87932	D	0	.	15.7654	0.78123	0.0:0.0:1.0:0.0	.	543;543	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	L	543	ENSP00000362211:W543L;ENSP00000362206:W543L	ENSP00000362206:W543L	W	+	2	0	KLHL4	86775483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.012000	0.93624	2.174000	0.68829	0.506000	0.49869	TGG		PASS	0.403	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			49	4	49	4	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86890576	86890576	+	Missense_Mutation	SNP	G	G	T			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:86890576G>T	ENST00000373119.4	+	9	1871	c.1726G>T	c.(1726-1728)Ggt>Tgt	p.G576C	KLHL4_ENST00000373114.4_Missense_Mutation_p.G576C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	576						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G576C(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATATGCTATTGGTGGACGTGA	0.388																																						uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1726-1728)GGT>TGT		kelch-like 4 isoform 1							99.0	83.0	88.0					X																	86890576		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890576G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1726G>T	X.37:g.86890576G>T	ENSP00000362211:p.Gly576Cys					KLHL4_uc004efa.2_Missense_Mutation_p.G576C	p.G576C	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			9	1908	+			576			Kelch 4.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1726G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976186	0.74360	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.98777	-5.13;-5.13	4.44	4.44	0.53790	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97044	0.9759	10	0.87932	D	0	.	15.4132	0.74943	0.0:0.0:1.0:0.0	.	576;576	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	C	576	ENSP00000362211:G576C;ENSP00000362206:G576C	ENSP00000362206:G576C	G	+	1	0	KLHL4	86777232	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.896000	0.92521	2.173000	0.68751	0.513000	0.50165	GGT		PASS	0.388	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			31	8	31	8	---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105451000	105451000	+	Silent	SNP	G	G	T	rs182305110		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:105451000G>T	ENST00000357175.2	+	4	2224	c.1575G>T	c.(1573-1575)ccG>ccT	p.P525P	MUM1L1_ENST00000337685.2_Silent_p.P525P|MUM1L1_ENST00000372552.1_Silent_p.P525P	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	525						extracellular vesicular exosome (GO:0070062)		p.P525P(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGGGAACCGATGGCTGTAA	0.448																																						uc004emf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1573-1575)CCG>CCT		melanoma associated antigen (mutated) 1-like 1							58.0	52.0	54.0					X																	105451000		1854	4086	5940	SO:0001819	synonymous_variant	139221							g.chrX:105451000G>T	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1575G>T	X.37:g.105451000G>T						MUM1L1_uc004emg.1_Silent_p.P525P	p.P525P	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	2224	+			525					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	ENST00000357175.2	37	c.1575G>T	CCDS55469.1																																																																																				PASS	0.448	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		30	6	30	6	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117777531	117777531	+	Missense_Mutation	SNP	G	G	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:117777531G>A	ENST00000276202.7	+	40	4435	c.4372G>A	c.(4372-4374)Gcc>Acc	p.A1458T	DOCK11_ENST00000276204.6_Missense_Mutation_p.A1458T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1458					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1458T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACATGTATTTGCCTCACTGAG	0.408																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4372-4374)GCC>ACC		dedicator of cytokinesis 11							169.0	169.0	169.0					X																	117777531		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117777531G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4372G>A	X.37:g.117777531G>A	ENSP00000276202:p.Ala1458Thr					DOCK11_uc004eqq.2_Missense_Mutation_p.A1237T	p.A1458T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			40	4435	+			1458					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4372G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758728	0.49468	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.62941	-0.01;-0.01	5.22	5.22	0.72569	.	0.108799	0.64402	D	0.000010	T	0.64724	0.2624	M	0.65677	2.01	0.58432	D	0.999998	B;B	0.20671	0.023;0.047	B;B	0.27796	0.028;0.083	T	0.62464	-0.6849	10	0.40728	T	0.16	-13.5159	18.1307	0.89600	0.0:0.0:1.0:0.0	.	1458;1458	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1458	ENSP00000276204:A1458T;ENSP00000276202:A1458T	ENSP00000276202:A1458T	A	+	1	0	DOCK11	117661559	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.574000	0.53863	2.304000	0.77564	0.600000	0.82982	GCC		PASS	0.408	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		213	32	213	32	---	---	---	---
XIAP	331	broad.mit.edu	37	X	123034381	123034381	+	Missense_Mutation	SNP	A	A	G	rs370533935		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:123034381A>G	ENST00000371199.3	+	6	1437	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.I380V|XIAP_ENST00000355640.3_Missense_Mutation_p.I380V	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	380					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I380V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAAGAAGCTATACGAATGGG	0.323									X-linked Lymphoproliferative syndrome																													uc010nqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1138-1140)ATA>GTA		baculoviral IAP repeat-containing protein 4		A	VAL/ILE,VAL/ILE	1,3834		0,1,1631,571	51.0	48.0	49.0		1138,1138	3.5	1.0	X		49	0,6728		0,0,2428,1872	no	missense,missense	XIAP	NM_001167.3,NM_001204401.1	29,29	0,1,4059,2443	GG,GA,AA,A		0.0,0.0261,0.0095	benign,benign	380/498,380/498	123034381	1,10562	2203	4300	6503	SO:0001583	missense	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123034381A>G	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1138A>G	X.37:g.123034381A>G	ENSP00000360242:p.Ile380Val					XIAP_uc004etx.2_Missense_Mutation_p.I380V|XIAP_uc010nqv.2_Missense_Mutation_p.I6V	p.I380V	NM_001167	NP_001158	P98170	XIAP_HUMAN			6	1264	+			380					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.1138A>G	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	a	12.71	2.020247	0.35606	2.61E-4	0.0	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.26373	1.74;1.74;1.74	4.7	3.54	0.40534	.	0.316545	0.31507	N	0.007530	T	0.18341	0.0440	L	0.38838	1.175	0.34378	D	0.692809	B	0.02656	0.0	B	0.04013	0.001	T	0.13495	-1.0507	10	0.33940	T	0.23	-16.4135	8.0643	0.30651	0.9048:0.0:0.0952:0.0	.	380	P98170	XIAP_HUMAN	V	380	ENSP00000395230:I380V;ENSP00000360242:I380V;ENSP00000347858:I380V	ENSP00000347858:I380V	I	+	1	0	XIAP	122862062	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	2.028000	0.41088	0.660000	0.30964	0.350000	0.21858	ATA		PASS	0.323	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		54	4	54	4	---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153278532	153278532	+	Missense_Mutation	SNP	C	C	A			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:153278532C>A	ENST00000369980.3	-	12	2059	c.1892G>T	c.(1891-1893)tGg>tTg	p.W631L	IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000429936.2_Missense_Mutation_p.W627L|IRAK1_ENST00000393682.1_Missense_Mutation_p.W612L|IRAK1_ENST00000393687.2_Missense_Mutation_p.W601L|IRAK1_ENST00000369974.2_Missense_Mutation_p.W552L	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	631					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.W631L(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACTCCCCCAGCTCGATTC	0.677																																						uc004fjs.1																			2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(1891-1893)TGG>TTG		interleukin-1 receptor-associated kinase 1							14.0	15.0	15.0					X																	153278532		2182	4248	6430	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278532C>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1892G>T	X.37:g.153278532C>A	ENSP00000358997:p.Trp631Leu					IRAK1_uc004fjr.1_Missense_Mutation_p.W601L|IRAK1_uc004fjt.1_Missense_Mutation_p.W552L|IRAK1_uc010nur.2_Intron	p.W631L	NM_001569	NP_001560	P51617	IRAK1_HUMAN			12	1971	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		631					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1892G>T	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.055|9.055	0.993031|0.993031	0.19043|0.19043	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000437278|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|T;T;T;T;T	.|0.21932	.|1.98;1.98;1.98;1.98;1.98	5.2|5.2	-0.176|-0.176	0.13311|0.13311	.|.	.|0.938307	.|0.08893	.|N	.|0.878423	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.13145	.|0.001;0.001;0.007	.|B;B;B	.|0.13407	.|0.002;0.001;0.009	T|T	0.37934|0.37934	-0.9684|-0.9684	5|10	.|0.05620	.|T	.|0.96	-0.0057|-0.0057	4.2841|4.2841	0.10846|0.10846	0.153:0.3362:0.4207:0.0901|0.153:0.3362:0.4207:0.0901	.|.	.|552;631;601	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	W|L	195|631;552;612;601;627	.|ENSP00000358997:W631L;ENSP00000358991:W552L;ENSP00000377287:W612L;ENSP00000377291:W601L;ENSP00000392662:W627L	.|ENSP00000358991:W552L	G|W	-|-	1|2	0|0	IRAK1|IRAK1	152931726|152931726	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.476000|0.476000	0.33039|0.33039	-0.015000|-0.015000	0.12634|0.12634	-0.423000|-0.423000	0.07394|0.07394	0.600000|0.600000	0.82982|0.82982	GGG|TGG		PASS	0.677	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			9	16	9	16	---	---	---	---
DRAXIN	374946	broad.mit.edu	37	1	11766322	11766322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr1:11766322delG	ENST00000294485.5	+	2	142	c.7delG	c.(7-9)gggfs	p.G3fs		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GCCAATGGCTGGGCCTGCCAT	0.622																																						uc001asr.1																			0					0						c.(7-9)GGGfs		chromosome 1 open reading frame 187 precursor																																				SO:0001589	frameshift_variant	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11766322delG	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.7delG	1.37:g.11766322delG	ENSP00000294485:p.Gly3fs						p.G3fs	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	2	147	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	3						Frame_Shift_Del	DEL	ENST00000294485.5	37	c.7delG	CCDS135.1																																																																																					0.622	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		15	7	15	7	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73678938	73678938	+	Frame_Shift_Del	DEL	A	A	-	rs545349239		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:73678938delA	ENST00000264448.6	+	8	5392	c.5281delA	c.(5281-5283)acafs	p.T1761fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.T1719fs|ALMS1_ENST00000377715.1_Frame_Shift_Del_p.T1761fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1761	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTATTCACATACAGAGAAGCC	0.428																																						uc002sje.1																			0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(5287-5289)ACAfs		Alstrom syndrome 1							87.0	87.0	87.0					2																	73678938		1838	4081	5919	SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678938delA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5281delA	2.37:g.73678938delA	ENSP00000264448:p.Thr1761fs					ALMS1_uc002sjf.1_Frame_Shift_Del_p.T1719fs|ALMS1_uc002sjg.2_Frame_Shift_Del_p.T1149fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.T1149fs	p.T1763fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	5398	+			1761			34 X 47 AA approximate tandem repeat.|26.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	c.5287delA	CCDS42697.1																																																																																					0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		83	98	83	98	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125281944	125281944	+	Frame_Shift_Del	DEL	G	G	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:125281944delG	ENST00000431078.1	+	9	1753	c.1389delG	c.(1387-1389)acgfs	p.T463fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T463T(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCGCATCACGCTCACTCTGG	0.493																																						uc002tno.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)	10						c.(1387-1389)ACGfs		contactin associated protein-like 5 precursor							72.0	77.0	75.0					2																	125281944		2058	4213	6271	SO:0001589	frameshift_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281944delG	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1389delG	2.37:g.125281944delG	ENSP00000399013:p.Thr463fs					CNTNAP5_uc010flu.2_Frame_Shift_Del_p.T464fs	p.T463fs	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1753	+			463			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	ENST00000431078.1	37	c.1389delG	CCDS46401.1																																																																																					0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			71	50	71	50	---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241515987	241515989	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr2:241515987_241515989delCCG	ENST00000270357.4	+	9	1446_1448	c.853_855delCCG	c.(853-855)ccgdel	p.P286del	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	286					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGCCACAGGCCCGCCGCTGGCTG	0.665																																						uc002vzi.2																			0				large_intestine(1)|skin(1)	2						c.(853-855)CCGdel		arginyl aminopeptidase (aminopeptidase B)-like																																				SO:0001651	inframe_deletion	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241515987_241515989delCCG			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.853_855delCCG	2.37:g.241515990_241515992delCCG	ENSP00000270357:p.Pro286del					RNPEPL1_uc010fzf.2_In_Frame_Del_p.P192del|RNPEPL1_uc002vzj.2_5'UTR	p.P286del	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	9	1446_1448	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	286					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	In_Frame_Del	DEL	ENST00000270357.4	37	c.853_855delCCG																																																																																						0.665	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		6	22	6	22	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8176274	8176298	+	Frame_Shift_Del	DEL	TGCTTCTCCCGGGGCCCTTCCGGGG	TGCTTCTCCCGGGGCCCTTCCGGGG	-	rs200355456	byFrequency	TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:8176274_8176298delTGCTTCTCCCGGGGCCCTTCCGGGG	ENST00000520004.1	-	6	3851_3875	c.3587_3611delCCCCGGAAGGGCCCCGGGAGAAGCA	c.(3586-3612)tccccggaagggccccgggagaagcagfs	p.SPEGPREKQ1196fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.SPEGPREKQ1196fs			Q86YV5	SG223_HUMAN		1200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.Q1204*(1)|p.Q1206*(1)									CCGGGGCAGCTGCTTCTCCCGGGGCCCTTCCGGGGAGGCGGGGCC	0.751																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3																			2	Substitution - Nonsense(2)		large_intestine(2)		0						c.(3586-3612)TCCCCGGAAGGGCCCCGGGAGAAGCAGfs		pragmin																																				SO:0001589	frameshift_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176274_8176298delTGCTTCTCCCGGGGCCCTTCCGGGG																												ENST00000520004.1:c.3587_3611delCCCCGGAAGGGCCCCGGGAGAAGCA	8.37:g.8176274_8176298delTGCTTCTCCCGGGGCCCTTCCGGGG	ENSP00000428054:p.Ser1196fs						p.S1196fs	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			5	3587_3611	-			1196_1204			Protein kinase.		Q8N3N5	Frame_Shift_Del	DEL	ENST00000520004.1	37	c.3587_3611delCCCCGGAAGGGCCCCGGGAGAAGCA	CCDS43706.1																																																																																					0.751	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			9	4	9	4	---	---	---	---
ZNF16	7564	broad.mit.edu	37	8	146157387	146157390	+	Frame_Shift_Del	DEL	CTCA	CTCA	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr8:146157387_146157390delCTCA	ENST00000276816.4	-	4	969_972	c.783_786delTGAG	c.(781-786)agtgagfs	p.SE261fs	ZNF16_ENST00000394909.2_Frame_Shift_Del_p.SE261fs	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	261					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGTAAGCTTTCTCACTCATATGAG	0.466																																						uc003zet.2																			0				ovary(5)	5						c.(781-786)AGTGAGfs		zinc finger protein 16																																				SO:0001589	frameshift_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157387_146157390delCTCA	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.783_786delTGAG	8.37:g.146157391_146157394delCTCA	ENSP00000276816:p.Ser261fs					ZNF16_uc003zeu.2_Frame_Shift_Del_p.S261fs	p.S261fs	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	970_973	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	261_262					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Frame_Shift_Del	DEL	ENST00000276816.4	37	c.783_786delTGAG	CCDS6437.1																																																																																					0.466	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		204	120	204	120	---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133196330	133196330	+	Frame_Shift_Del	DEL	C	C	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr12:133196330delC	ENST00000389110.3	+	3	412	c.375delC	c.(373-375)tgcfs	p.C125fs	P2RX2_ENST00000343948.4_Frame_Shift_Del_p.C125fs|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000348800.5_Frame_Shift_Del_p.C125fs|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	125					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGGGAACCTGCCCCGAGGTGA	0.721																																						uc001ukj.1																			0					0						c.(373-375)TGCfs		purinergic receptor P2X2 isoform A							11.0	15.0	14.0					12																	133196330		2184	4268	6452	SO:0001589	frameshift_variant	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196330delC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.375delC	12.37:g.133196330delC	ENSP00000373762:p.Cys125fs					P2RX2_uc001uki.1_Frame_Shift_Del_p.C125fs|P2RX2_uc001ukk.1_Frame_Shift_Del_p.C125fs|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Frame_Shift_Del_p.C125fs|P2RX2_uc001uko.1_Intron	p.C125fs	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	3	375	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	125			Extracellular (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Frame_Shift_Del	DEL	ENST00000389110.3	37	c.375delC	CCDS31931.1																																																																																					0.721	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			15	23	15	23	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23896042	23896042	+	Frame_Shift_Del	DEL	C	C	-	rs371898076		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr14:23896042delC	ENST00000355349.3	-	18	2150	c.1988delG	c.(1987-1989)cgcfs	p.R663fs		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	663	Actin-binding.|Myosin motor.		R -> C (in CMH1). {ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:15858117}.|R -> H (in CMH1). {ECO:0000269|PubMed:11133230, ECO:0000269|PubMed:12081993, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12820698, ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:7731997}.|R -> S (in CMH1). {ECO:0000269|PubMed:12707239}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R663H(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGGGTGGAGCGCAAGTTGGT	0.478																																						uc001wjx.2																			2	Substitution - Missense(2)		urinary_tract(1)|breast(1)	ovary(3)|skin(1)	4	GRCh37	CM993620	MYH7	M		c.(1987-1989)CGCfs		myosin, heavy chain 7, cardiac muscle, beta							126.0	110.0	115.0					14																	23896042		2203	4300	6503	SO:0001589	frameshift_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23896042delC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1988delG	14.37:g.23896042delC	ENSP00000347507:p.Arg663fs						p.R663fs	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	18	2094	-	all_cancers(95;2.54e-05)		663		R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1).	Myosin head-like.|Actin-binding.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Frame_Shift_Del	DEL	ENST00000355349.3	37	c.1988delG	CCDS9601.1																																																																																					0.478	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		19	40	19	40	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86791071	86791071	+	Frame_Shift_Del	DEL	G	G	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr15:86791071delG	ENST00000441037.2	+	6	653	c.558delG	c.(556-558)ctgfs	p.L186fs	AGBL1_ENST00000421325.2_Frame_Shift_Del_p.L186fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	186					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGGCCTTCCTGGCAGCACAGG	0.627																																						uc002blz.1																			0					0						c.(556-558)CTGfs		ATP/GTP binding protein-like 1							57.0	59.0	58.0					15																	86791071		2148	4259	6407	SO:0001589	frameshift_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86791071delG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.558delG	15.37:g.86791071delG	ENSP00000413001:p.Leu186fs						p.L186fs	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			6	638	+			186					A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	ENST00000441037.2	37	c.558delG	CCDS58398.1																																																																																					0.627	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		90	62	90	62	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576878	7576887	+	Frame_Shift_Del	DEL	AGTGGTTTCT	AGTGGTTTCT	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr17:7576878_7576887delAGTGGTTTCT	ENST00000269305.4	-	9	1148_1157	c.959_968delAGAAACCACT	c.(958-969)aagaaaccactgfs	p.KKPL320fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.KKPL320fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KKPL320fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KKPL320fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.KKPL320fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	320	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K321fs*24(4)|p.P322fs*23(3)|p.K320N(3)|p.K321_P322insK(2)|p.K320fs*26(2)|p.P322L(2)|p.P318fs*15(2)|p.P322R(2)|p.K321*(2)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.K320fs*25(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTCCATCCAGTGGTTTCTTCTTTGGCTG	0.457		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		43	Deletion - Frameshift(13)|Substitution - Missense(12)|Whole gene deletion(8)|Insertion - Frameshift(3)|Substitution - Nonsense(2)|Insertion - In frame(2)|Substitution - coding silent(2)|Unknown(1)	p.0?(7)|p.K321fs*24(4)|p.K320N(3)|p.K320fs*26(2)|p.K320*(2)|p.P322L(2)|p.P322R(2)|p.K321*(2)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.K320fs*25(1)|p.P322fs*23(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)|p.K320fs*18(1)	upper_aerodigestive_tract(7)|ovary(6)|breast(5)|bone(4)|central_nervous_system(3)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|oesophagus(2)|peritoneum(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(958-969)AAGAAACCACTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576878_7576887delAGTGGTTTCT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.959_968delAGAAACCACT	17.37:g.7576878_7576887delAGTGGTTTCT	ENSP00000269305:p.Lys320fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.K320fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.K188fs|TP53_uc010cng.1_Frame_Shift_Del_p.K188fs|TP53_uc002gii.1_Frame_Shift_Del_p.K188fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K320fs|TP53_uc010cni.1_Frame_Shift_Del_p.K320fs|TP53_uc002gij.2_Frame_Shift_Del_p.K320fs	p.K320fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1153_1162	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	320_323		L -> P (in a sporadic cancer; somatic mutation).|L -> R (in a sporadic cancer; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|L -> V (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.959_968delAGAAACCACT	CCDS11118.1																																																																																					0.457	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	45	37	45	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47886767	47886775	+	In_Frame_Del	DEL	CCTCCTGGA	CCTCCTGGA	-			TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chr20:47886767_47886775delCCTCCTGGA	ENST00000396105.1	-	3	1820_1828	c.1574_1582delTCCAGGAGG	c.(1573-1584)gtccaggaggaa>gaa	p.VQE525del	ZNFX1_ENST00000371754.4_In_Frame_Del_p.VQE525del|ZNFX1_ENST00000371752.1_In_Frame_Del_p.VQE525del	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	525							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q526Q(2)|p.Q330Q(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGAACATCTTCCTCCTGGACCTCCTGGAG	0.522																																						uc002xui.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(1573-1584)GTCCAGGAGGAA>GAA		zinc finger, NFX1-type containing 1																																				SO:0001651	inframe_deletion	57169						metal ion binding	g.chr20:47886767_47886775delCCTCCTGGA	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1574_1582delTCCAGGAGG	20.37:g.47886776_47886784delCCTCCTGGA	ENSP00000379412:p.Val525_Glu527del						p.VQE525del	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1821_1829	-			525_527					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	In_Frame_Del	DEL	ENST00000396105.1	37	c.1574_1582delTCCAGGAGG	CCDS13417.1																																																																																					0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		50	61	50	61	---	---	---	---
GABRE	2564	broad.mit.edu	37	X	151123842	151123843	+	Frame_Shift_Ins	INS	-	-	C	rs141069947		TCGA-63-5128-01A-01D-1441-08	TCGA-63-5128-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3b9b51e-eeea-4355-829d-ee35bdd2cf5b	ba850774-da7f-4c60-8977-0371711da3f9	g.chrX:151123842_151123843insC	ENST00000370328.3	-	8	1187_1188	c.1134_1135insG	c.(1132-1137)cgccatfs	p.H379fs	GABRE_ENST00000370325.1_Intron|GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	379					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTCATACATGGCGGAGTTTAG	0.52																																						uc004ffi.2																			0				ovary(2)	2						c.(1132-1137)CGCCATfs		gamma-aminobutyric acid (GABA) A receptor,																																				SO:0001589	frameshift_variant	2564				gamma-aminobutyric acid signaling pathway	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.chrX:151123842_151123843insC	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1134_1135insG	X.37:g.151123842_151123843insC	ENSP00000359353:p.His379fs					GABRE_uc011myd.1_RNA	p.R378fs	NM_004961	NP_004952	P78334	GBRE_HUMAN			8	1188_1189	-	Acute lymphoblastic leukemia(192;6.56e-05)		378_379			Cytoplasmic (Probable).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Frame_Shift_Ins	INS	ENST00000370328.3	37	c.1134_1135insG	CCDS14703.1																																																																																					0.520	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		11	46	11	46	---	---	---	---
