#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
PRDM16	63976	broad.mit.edu	37	1	3319418	3319418	+	Missense_Mutation	SNP	G	G	T	rs543104292		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:3319418G>T	ENST00000270722.5	+	6	789	c.740G>T	c.(739-741)cGc>cTc	p.R247L	PRDM16_ENST00000378391.2_Missense_Mutation_p.R247L|PRDM16_ENST00000442529.2_Missense_Mutation_p.R247L|PRDM16_ENST00000511072.1_Missense_Mutation_p.R248L|PRDM16_ENST00000514189.1_Missense_Mutation_p.R248L|PRDM16_ENST00000441472.2_Missense_Mutation_p.R247L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Missense_Mutation_p.R248L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	247					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.R247L(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACCTGCGGCGCCATAAGAAG	0.637			T	EVI1	"""MDS, AML"""																																	uc001akf.2				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(739-741)CGC>CTC		PR domain containing 16 isoform 1							53.0	62.0	59.0					1																	3319418		2125	4248	6373	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3319418G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.740G>T	1.37:g.3319418G>T	ENSP00000270722:p.Arg247Leu					PRDM16_uc001akc.2_Missense_Mutation_p.R247L|PRDM16_uc001akd.2_Missense_Mutation_p.R247L|PRDM16_uc001ake.2_Missense_Mutation_p.R247L|PRDM16_uc009vlh.2_5'UTR	p.R247L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	6	820	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	247			C2H2-type 1; atypical.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.740G>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	g	24.3	4.515686	0.85389	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.31	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.146225	0.30840	U	0.008766	T	0.49525	0.1562	L	0.49455	1.56	0.54753	D	0.999982	D;P;D;B	0.89917	1.0;0.628;0.96;0.087	D;B;P;B	0.75484	0.986;0.203;0.639;0.098	T	0.49428	-0.8941	10	0.46703	T	0.11	.	16.3661	0.83325	0.0:0.0:1.0:0.0	.	247;247;247;247	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	248;248;247;247;247;248;247;63;63;56	ENSP00000426975:R248L;ENSP00000367651:R248L;ENSP00000407968:R247L;ENSP00000405253:R247L;ENSP00000367643:R247L;ENSP00000421400:R248L;ENSP00000270722:R247L;ENSP00000422504:R63L;ENSP00000425796:R56L	ENSP00000270722:R247L	R	+	2	0	PRDM16	3309278	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.564000	0.73969	1.945000	0.56424	0.556000	0.70494	CGC		PASS	0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		35	61	35	61	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3672112	3672112	+	Silent	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:3672112C>A	ENST00000294600.2	+	3	618	c.534C>A	c.(532-534)ggC>ggA	p.G178G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	178								p.G178G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCAGGCGGGGCTCAGACACGA	0.632																																						uc001akv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(532-534)GGC>GGA		coiled-coil domain containing 27							126.0	136.0	133.0					1																	3672112		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3672112C>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.534C>A	1.37:g.3672112C>A							p.G178G	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	3	615	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	178					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.534C>A	CCDS50.1																																																																																				PASS	0.632	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		45	237	45	237	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11259718	11259718	+	Silent	SNP	C	C	G	rs145404035		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:11259718C>G	ENST00000361445.4	-	27	4063	c.3987G>C	c.(3985-3987)ctG>ctC	p.L1329L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1329					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1329L(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GATCTTCATTCAGTTCAGACC	0.507																																						uc001asd.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(3985-3987)CTG>CTC		FK506 binding protein 12-rapamycin associated							129.0	107.0	114.0					1																	11259718		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11259718C>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3987G>C	1.37:g.11259718C>G							p.L1329L	NM_004958	NP_004949	P42345	MTOR_HUMAN			27	4108	-			1329					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.3987G>C	CCDS127.1																																																																																				PASS	0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		41	121	41	121	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19501466	19501466	+	Silent	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:19501466C>T	ENST00000375254.3	-	21	2862	c.2835G>A	c.(2833-2835)ttG>ttA	p.L945L	UBR4_ENST00000375226.2_Silent_p.L945L|UBR4_ENST00000375267.2_Silent_p.L945L|UBR4_ENST00000375217.2_Silent_p.L945L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	945					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L945L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAAGTCGGTTCAAATCATCCT	0.438																																						uc001bbi.2																			1	Substitution - coding silent(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(2833-2835)TTG>TTA		retinoblastoma-associated factor 600							103.0	95.0	98.0					1																	19501466		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19501466C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2835G>A	1.37:g.19501466C>T						UBR4_uc001bbm.1_Silent_p.L156L	p.L945L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	21	2839	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	945					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.2835G>A	CCDS189.1																																																																																				PASS	0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	144	6	144	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19501471	19501471	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:19501471C>T	ENST00000375254.3	-	21	2857	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	UBR4_ENST00000375226.2_Missense_Mutation_p.D944N|UBR4_ENST00000375267.2_Missense_Mutation_p.D944N|UBR4_ENST00000375217.2_Missense_Mutation_p.D944N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	944					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D944N(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGGTTCAAATCATCCTCTGAG	0.433																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(2830-2832)GAT>AAT		retinoblastoma-associated factor 600							103.0	96.0	98.0					1																	19501471		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19501471C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2830G>A	1.37:g.19501471C>T	ENSP00000364403:p.Asp944Asn					UBR4_uc001bbm.1_Missense_Mutation_p.D155N	p.D944N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	21	2834	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	944					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2830G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564885	0.96527	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.27890	1.66;1.66;1.64;1.64	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	L	0.52573	1.65	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.42464	-0.9450	10	0.54805	T	0.06	.	20.0143	0.97474	0.0:1.0:0.0:0.0	.	944	Q5T4S7	UBR4_HUMAN	N	944;944;944;944;160	ENSP00000364403:D944N;ENSP00000364416:D944N;ENSP00000364365:D944N;ENSP00000364374:D944N	ENSP00000364365:D944N	D	-	1	0	UBR4	19374058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.382000	0.79729	2.831000	0.97527	0.650000	0.86243	GAT		PASS	0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	146	6	146	---	---	---	---
DDOST	1650	broad.mit.edu	37	1	20979440	20979440	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:20979440G>T	ENST00000375048.3	-	9	1123	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	PINK1-AS_ENST00000451424.1_RNA|DDOST_ENST00000602624.2_Missense_Mutation_p.L323I|DDOST_ENST00000415136.2_Missense_Mutation_p.L303I	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	340					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.L340I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATTTGAGAGCTGCTGGATC	0.522																																						uc001bdo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)CTC>ATC		dolichyl-diphosphooligosaccharide-protein							114.0	102.0	106.0					1																	20979440		2203	4300	6503	SO:0001583	missense	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20979440G>T	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.1018C>A	1.37:g.20979440G>T	ENSP00000364188:p.Leu340Ile					DDOST_uc009vpw.1_Missense_Mutation_p.L340I|DDOST_uc010odd.1_Missense_Mutation_p.L139I|DDOST_uc010ode.1_Missense_Mutation_p.L303I	p.L340I	NM_005216	NP_005207	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	9	1161	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	340			Lumenal (Potential).		B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	ENST00000375048.3	37	c.1018C>A	CCDS212.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383296	0.82792	.	.	ENSG00000244038	ENST00000375048;ENST00000415136	T;T	0.78595	-1.19;-1.19	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	M	0.88105	2.93	0.80722	D	1	D;D;P	0.55172	0.97;0.97;0.939	P;P;P	0.59825	0.864;0.864;0.806	D	0.88917	0.3363	10	0.45353	T	0.12	-33.3841	20.0655	0.97703	0.0:0.0:1.0:0.0	.	303;322;340	E7EWT1;B4DLI2;P39656	.;.;OST48_HUMAN	I	340;303	ENSP00000364188:L340I;ENSP00000399457:L303I	ENSP00000364188:L340I	L	-	1	0	DDOST	20852027	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.517000	0.60503	2.752000	0.94435	0.555000	0.69702	CTC		PASS	0.522	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		4	125	4	125	---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32167759	32167759	+	Silent	SNP	G	G	A	rs541304102		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:32167759G>A	ENST00000373672.3	-	2	552	c.36C>T	c.(34-36)ctC>ctT	p.L12L	COL16A1_ENST00000271069.6_Silent_p.L12L|COL16A1_ENST00000373668.3_Silent_p.L12L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	12					cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.L12L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCCAAAGACCGAGCAGCCACA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19143	0.0		0.0	False		,,,				2504	0.001				Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)	8						c.(34-36)CTC>CTT		alpha 1 type XVI collagen precursor							79.0	94.0	89.0					1																	32167759		2063	4199	6262	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32167759G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.36C>T	1.37:g.32167759G>A						COL16A1_uc001btl.3_Silent_p.L12L	p.L12L	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	2	401	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	12					Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.36C>T	CCDS41297.1																																																																																				PASS	0.587	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		7	57	7	57	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34190222	34190222	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:34190222C>A	ENST00000373381.4	-	18	2955	c.2779G>T	c.(2779-2781)Gcg>Tcg	p.A927S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	887	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A887S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCACCAGCGCGCCCACGTAG	0.567																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2659-2661)GCG>TCG		CUB and Sushi multiple domains 2							82.0	77.0	79.0					1																	34190222		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190222C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2779G>T	1.37:g.34190222C>A	ENSP00000362479:p.Ala927Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.A927S	p.A887S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			18	2688	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	887			Sushi 5.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2659G>T		.	.	.	.	.	.	.	.	.	.	C	13.93	2.382500	0.42207	.	.	ENSG00000121904	ENST00000373381	T	0.64085	-0.08	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	N	0.00339	-1.615	0.80722	D	1	P;B	0.37101	0.582;0.205	P;B	0.47744	0.556;0.124	T	0.54430	-0.8295	10	0.02654	T	1	.	18.9071	0.92467	0.0:1.0:0.0:0.0	.	887;927	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	927	ENSP00000362479:A927S	ENSP00000241312:A887S	A	-	1	0	CSMD2	33962809	1.000000	0.71417	0.805000	0.32314	0.844000	0.47949	6.082000	0.71318	2.707000	0.92482	0.655000	0.94253	GCG		PASS	0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		40	58	40	58	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86964384	86964384	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:86964384C>A	ENST00000234701.3	+	14	2594	c.2243C>A	c.(2242-2244)cCt>cAt	p.P748H	CLCA1_ENST00000394711.1_Missense_Mutation_p.P748H			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	748					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.P748H(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCTCCCATACCTGATCTCTTC	0.483																																						uc001dlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2242-2244)CCT>CAT		chloride channel accessory 1 precursor							120.0	109.0	113.0					1																	86964384		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86964384C>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2243C>A	1.37:g.86964384C>A	ENSP00000234701:p.Pro748His						p.P748H	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	13	2372	+		Lung NSC(277;0.239)	748					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2243C>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648990	0.67358	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.03035	4.07;4.07	5.97	5.03	0.67393	.	0.076192	0.56097	D	0.000035	T	0.08714	0.0216	M	0.83692	2.655	0.30153	N	0.80292	D	0.63046	0.992	P	0.62014	0.897	T	0.01484	-1.1343	10	0.72032	D	0.01	-6.0015	8.697	0.34303	0.2669:0.6626:0.0:0.0705	.	748	A8K7I4	CLCA1_HUMAN	H	748	ENSP00000234701:P748H;ENSP00000378200:P748H	ENSP00000234701:P748H	P	+	2	0	CLCA1	86736972	0.987000	0.35691	0.992000	0.48379	0.968000	0.65278	2.112000	0.41892	2.828000	0.97474	0.655000	0.94253	CCT		PASS	0.483	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		54	105	54	105	---	---	---	---
GFI1	2672	broad.mit.edu	37	1	92941667	92941667	+	Missense_Mutation	SNP	G	G	T	rs374783582		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:92941667G>T	ENST00000370332.1	-	7	1506	c.1188C>A	c.(1186-1188)ttC>ttA	p.F396L	GFI1_ENST00000294702.5_Missense_Mutation_p.F396L|GFI1_ENST00000427103.1_Missense_Mutation_p.F396L	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	396					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.F396L(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GGTCGCAGCCGAAGGGCTTGA	0.607																																						uc001dou.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1186-1188)TTC>TTA		growth factor independent 1							64.0	56.0	59.0					1																	92941667		2203	4300	6503	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941667G>T	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1188C>A	1.37:g.92941667G>T	ENSP00000359357:p.Phe396Leu					GFI1_uc001dov.3_Missense_Mutation_p.F396L|GFI1_uc001dow.3_Missense_Mutation_p.F396L	p.F396L	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1352	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	396			C2H2-type 6.		Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.1188C>A	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343476	0.61073	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.21932	1.98;1.98;1.98	5.6	-7.32	0.01436	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53514	-0.8428	10	0.87932	D	0	-14.9073	16.1549	0.81657	0.715:0.0:0.285:0.0	.	396	Q99684	GFI1_HUMAN	L	396	ENSP00000359357:F396L;ENSP00000399719:F396L;ENSP00000294702:F396L	ENSP00000294702:F396L	F	-	3	2	GFI1	92714255	0.041000	0.20044	0.873000	0.34254	0.346000	0.29079	-0.529000	0.06186	-1.282000	0.02396	-1.170000	0.01741	TTC		PASS	0.607	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		13	18	13	18	---	---	---	---
HORMAD1	84072	broad.mit.edu	37	1	150689735	150689735	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:150689735C>G	ENST00000361824.2	-	3	162	c.57G>C	c.(55-57)aaG>aaC	p.K19N	HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000322343.7_Missense_Mutation_p.K19N|HORMAD1_ENST00000368993.2_Missense_Mutation_p.K19N	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	19					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.K19N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAGTTGATATCTTATTGGGAA	0.343																																						uc001evk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(55-57)AAG>AAC		HORMA domain containing 1							93.0	92.0	92.0					1																	150689735		2203	4300	6503	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150689735C>G	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.57G>C	1.37:g.150689735C>G	ENSP00000355167:p.Lys19Asn					HORMAD1_uc001evl.1_Missense_Mutation_p.K19N|HORMAD1_uc001evm.1_5'UTR	p.K19N	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	163	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		19					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.57G>C	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496267	0.64186	.	.	ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824	T;T;T	0.33216	1.42;1.43;1.42	5.46	1.06	0.20224	DNA-binding HORMA (1);	0.337294	0.34906	N	0.003597	T	0.14227	0.0344	L	0.33485	1.01	0.32246	N	0.572014	D;B	0.64830	0.994;0.255	P;B	0.60117	0.869;0.046	T	0.05500	-1.0881	10	0.21540	T	0.41	-18.1219	1.8735	0.03214	0.1388:0.4938:0.1363:0.2311	.	19;19	Q86X24-2;Q86X24	.;HORM1_HUMAN	N	19	ENSP00000357989:K19N;ENSP00000326489:K19N;ENSP00000355167:K19N	ENSP00000326489:K19N	K	-	3	2	HORMAD1	148956359	0.933000	0.31639	0.996000	0.52242	0.973000	0.67179	0.010000	0.13242	0.235000	0.21160	0.460000	0.39030	AAG		PASS	0.343	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		6	293	6	293	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157740401	157740401	+	Silent	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:157740401C>G	ENST00000361516.3	-	3	156	c.108G>C	c.(106-108)ctG>ctC	p.L36L	FCRL2_ENST00000368181.4_Silent_p.L36L|FCRL2_ENST00000392274.3_Silent_p.L36L|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	36	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.L36L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGGCATTTCAGAACGATGC	0.438																																						uc001fre.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(106-108)CTG>CTC		Fc receptor-like 2 precursor							55.0	55.0	55.0					1																	157740401		2203	4300	6503	SO:0001819	synonymous_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157740401C>G	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.108G>C	1.37:g.157740401C>G						FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L36L|FCRL2_uc009wsp.2_Silent_p.L36L|FCRL2_uc010pia.1_Silent_p.L36L	p.L36L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	167	-	all_hematologic(112;0.0378)		36			Ig-like C2-type 1.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.108G>C	CCDS1168.1																																																																																				PASS	0.438	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		5	139	5	139	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158597422	158597422	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:158597422A>G	ENST00000368147.4	-	40	5837	c.5657T>C	c.(5656-5658)cTa>cCa	p.L1886P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1886					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.L1886P(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)					CACCTTATTTAGGATGTCTTC	0.423																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5656-5658)CTA>CCA		spectrin, alpha, erythrocytic 1							165.0	151.0	155.0					1																	158597422		1911	4125	6036	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.chr1:158597422A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5657T>C	1.37:g.158597422A>G	ENSP00000357129:p.Leu1886Pro						p.L1886P	NM_003126	NP_003117	P02549	SPTA1_HUMAN			40	5856	-	all_hematologic(112;0.0378)		1886			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5657T>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589550	0.66105	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39592	1.07;1.07	5.42	5.42	0.78866	.	0.000000	0.27019	N	0.021328	T	0.56337	0.1978	M	0.74258	2.255	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.62181	-0.6908	10	0.72032	D	0.01	.	14.4378	0.67293	1.0:0.0:0.0:0.0	.	1886	P02549	SPTA1_HUMAN	P	1886	ENSP00000357130:L1886P;ENSP00000357129:L1886P	ENSP00000357129:L1886P	L	-	2	0	SPTA1	156864046	1.000000	0.71417	0.856000	0.33681	0.563000	0.35712	7.455000	0.80726	2.272000	0.75746	0.460000	0.39030	CTA		PASS	0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		63	201	63	201	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161042609	161042609	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:161042609C>T	ENST00000368012.3	-	9	1677	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	ARHGAP30_ENST00000368013.3_5'Flank|ARHGAP30_ENST00000368015.1_5'Flank|PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.E168K	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	459					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E459K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GACAGCAGTTCAGTCTGTGTT	0.562																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1375-1377)GAA>AAA		poliovirus receptor-related 4 precursor							122.0	104.0	110.0					1																	161042609		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161042609C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1375G>A	1.37:g.161042609C>T	ENSP00000356991:p.Glu459Lys					ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxl.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.E113K|PVRL4_uc010pjz.1_Missense_Mutation_p.E168K	p.E459K	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		9	1674	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		459			Cytoplasmic (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1375G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843852	0.91197	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.42900	0.96;1.15	4.85	4.85	0.62838	.	0.000000	0.48286	D	0.000197	T	0.40322	0.1112	N	0.19112	0.55	0.40078	D	0.976099	P;D;D	0.69078	0.956;0.979;0.997	P;D;D	0.73380	0.899;0.973;0.98	T	0.45498	-0.9257	10	0.62326	D	0.03	.	15.5133	0.75802	0.0:1.0:0.0:0.0	.	168;113;459	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	K	459;168	ENSP00000356991:E459K;ENSP00000406015:E168K	ENSP00000356991:E459K	E	-	1	0	PVRL4	159309233	0.994000	0.37717	0.768000	0.31515	0.993000	0.82548	4.636000	0.61339	2.504000	0.84457	0.655000	0.94253	GAA		PASS	0.562	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		25	53	25	53	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176668640	176668640	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:176668640G>T	ENST00000367662.3	+	8	4315	c.3151G>T	c.(3151-3153)Gtg>Ttg	p.V1051L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1051					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1051L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCAGGCCTGTGAGGTACCA	0.552																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3151-3153)GTG>TTG		pappalysin 2 isoform 1							106.0	111.0	109.0					1																	176668640		2066	4213	6279	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668640G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3151G>T	1.37:g.176668640G>T	ENSP00000356634:p.Val1051Leu					PAPPA2_uc009www.2_RNA	p.V1051L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	4315	+			1051					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3151G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	1.841	-0.467409	0.04476	.	.	ENSG00000116183	ENST00000367662	T	0.42131	0.98	5.38	3.47	0.39725	Fibronectin, type III (2);	0.382186	0.29053	N	0.013281	T	0.18841	0.0452	N	0.13198	0.31	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12993	-1.0526	10	0.02654	T	1	-8.8999	6.216	0.20656	0.2157:0.1405:0.6438:0.0	.	1051	Q9BXP8	PAPP2_HUMAN	L	1051	ENSP00000356634:V1051L	ENSP00000356634:V1051L	V	+	1	0	PAPPA2	174935263	1.000000	0.71417	0.934000	0.37439	0.589000	0.36550	2.161000	0.42358	0.789000	0.33779	0.655000	0.94253	GTG		PASS	0.552	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			71	189	71	189	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186321214	186321214	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:186321214T>A	ENST00000367478.4	-	19	2659	c.2363A>T	c.(2362-2364)aAg>aTg	p.K788M	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	788					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.K789M(1)|p.K788M(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGCATTTCCTTTTCCTTCTT	0.318			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2362-2364)AAG>ATG		nuclear pore complex-associated protein TPR							109.0	102.0	104.0					1																	186321214		1815	4074	5889	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186321214T>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2363A>T	1.37:g.186321214T>A	ENSP00000356448:p.Lys788Met						p.K788M	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	19	2660	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	788			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2363A>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027862	0.75390	.	.	ENSG00000047410	ENST00000367478	T	0.34472	1.36	5.75	5.75	0.90469	.	0.091105	0.64402	D	0.000001	T	0.54111	0.1838	L	0.59436	1.845	0.44254	D	0.997103	D	0.67145	0.996	P	0.61800	0.894	T	0.56697	-0.7936	10	0.72032	D	0.01	.	15.7189	0.77691	0.0:0.0:0.0:1.0	.	788	P12270	TPR_HUMAN	M	788	ENSP00000356448:K788M	ENSP00000356448:K788M	K	-	2	0	TPR	184587837	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.296000	0.43584	2.189000	0.69895	0.460000	0.39030	AAG		PASS	0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		63	118	63	118	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197024901	197024901	+	Missense_Mutation	SNP	C	C	T	rs201195929	byFrequency	TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:197024901C>T	ENST00000367412.1	-	8	1341	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	433	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.G433E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATTTTTGATCCCCTCAGTAA	0.418													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		15331	0.0		0.0	False		,,,				2504	0.0					uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1297-1299)GGA>GAA		coagulation factor XIII B subunit precursor							130.0	125.0	127.0					1																	197024901		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197024901C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1298G>A	1.37:g.197024901C>T	ENSP00000356382:p.Gly433Glu						p.G433E	NM_001994	NP_001985	P05160	F13B_HUMAN			8	1342	-			433			Sushi 7.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1298G>A	CCDS1388.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.69	2.610493	0.46527	.	.	ENSG00000143278	ENST00000367412	T	0.72167	-0.63	5.84	5.84	0.93424	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.32473	N	0.006045	D	0.88948	0.6576	H	0.95816	3.725	0.36274	D	0.855371	D	0.89917	1.0	D	0.91635	0.999	D	0.92791	0.6248	10	0.51188	T	0.08	.	17.056	0.86534	0.0:1.0:0.0:0.0	.	433	P05160	F13B_HUMAN	E	433	ENSP00000356382:G433E	ENSP00000356382:G433E	G	-	2	0	F13B	195291524	0.987000	0.35691	0.059000	0.19551	0.017000	0.09413	4.967000	0.63722	2.751000	0.94390	0.591000	0.81541	GGA		PASS	0.418	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		16	163	16	163	---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197896900	197896900	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:197896900G>T	ENST00000367387.4	+	4	1338	c.913G>T	c.(913-915)Ggt>Tgt	p.G305C	LHX9_ENST00000337020.2_Missense_Mutation_p.G305C|LHX9_ENST00000367390.3_Missense_Mutation_p.G296C|LHX9_ENST00000561173.1_Missense_Mutation_p.G311C|LHX9_ENST00000367391.1_Missense_Mutation_p.G296C	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	305					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G296C(1)|p.G305C(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCAGAAAACAGGTCTGACCAA	0.478																																						uc001guk.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(913-915)GGT>TGT		LIM homeobox 9 isoform 1							111.0	103.0	106.0					1																	197896900		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896900G>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.913G>T	1.37:g.197896900G>T	ENSP00000356357:p.Gly305Cys					LHX9_uc001gui.1_Missense_Mutation_p.G296C|LHX9_uc001guj.1_Missense_Mutation_p.G311C	p.G305C	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			4	1350	+			305			Homeobox.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.913G>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991950	0.93167	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.96856	-4.15;-4.12;-4.15;-4.12	6.03	6.03	0.97812	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98330	0.9446	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98607	1.0661	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	305;296;296	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	C	296;296;305;305	ENSP00000356361:G296C;ENSP00000356360:G296C;ENSP00000337969:G305C;ENSP00000356357:G305C	ENSP00000337969:G305C	G	+	1	0	LHX9	196163523	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GGT		PASS	0.478	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		34	104	34	104	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204403630	204403630	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:204403630T>C	ENST00000367187.3	-	25	4179	c.3623A>G	c.(3622-3624)cAc>cGc	p.H1208R	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.H1180R|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1208	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.H1208R(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTGGAACATGTGACCAGTGGT	0.517																																						uc001haw.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(3622-3624)CAC>CGC		phosphoinositide-3-kinase, class 2 beta							91.0	69.0	76.0					1																	204403630		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204403630T>C	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3623A>G	1.37:g.204403630T>C	ENSP00000356155:p.His1208Arg					PIK3C2B_uc010pqv.1_Missense_Mutation_p.H1180R	p.H1208R	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		25	4102	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1208			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3623A>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453874	0.84209	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.82526	-1.62;-1.62	5.69	4.55	0.56014	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.102085	0.64402	D	0.000003	D	0.87103	0.6094	L	0.47716	1.5	0.46849	D	0.999222	D;P	0.69078	0.997;0.942	D;P	0.69824	0.966;0.679	D	0.86843	0.2018	10	0.56958	D	0.05	.	12.6323	0.56665	0.0:0.0:0.1386:0.8614	.	1180;1208	F5GWN5;O00750	.;P3C2B_HUMAN	R	1208;1180	ENSP00000356155:H1208R;ENSP00000400561:H1180R	ENSP00000356155:H1208R	H	-	2	0	PIK3C2B	202670253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.937000	0.87672	0.961000	0.38030	0.460000	0.39030	CAC		PASS	0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		26	39	26	39	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233296087	233296088	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:233296087_233296088CC>TA	ENST00000258229.9	-	19	3692_3693	c.3458_3459GG>TA	c.(3457-3459)tGG>tTA	p.W1153L	PCNXL2_ENST00000488780.2_Missense_Mutation_p.W286L|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1153						integral component of membrane (GO:0016021)		p.W1153L(2)|p.W1153*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAATCCACATCCAGGGATGATG	0.45																																						uc001hvl.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	central_nervous_system(1)|pancreas(1)	2						c.(3457-3459)TGG>TGA|c.(3457-3459)TGG>TTG		pecanex-like 2																																				SO:0001583	missense	80003					integral to membrane		g.chr1:233296087C>T|g.chr1:233296088C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3458_3459delinsTA	1.37:g.233296087_233296088delinsTA	ENSP00000258229:p.Trp1153Leu					PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	p.W1153*|p.W1153L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			19	3694|3693	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1153					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000258229.9	37	c.3459G>A|c.3458G>T	CCDS44335.1																																																																																				PASS	0.450	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		29	110|111	29	110	---	---	---	---
GCSAML	148823	broad.mit.edu	37	1	247712512	247712512	+	Silent	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr1:247712512C>A	ENST00000366488.4	+	1	123	c.19C>A	c.(19-21)Cga>Aga	p.R7R	GCSAML_ENST00000366491.2_Silent_p.R7R|GCSAML_ENST00000366490.3_Nonsense_Mutation_p.C127*|GCSAML_ENST00000366489.1_Silent_p.R7R|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000536561.1_Silent_p.R7R|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	7								p.R7R(1)|p.C127*(1)									TTATCTCCTGCGAAAACTCAG	0.468																																						uc001idf.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)		0						c.(19-21)CGA>AGA		hypothetical protein LOC148823							95.0	87.0	90.0					1																	247712512		2203	4300	6503	SO:0001819	synonymous_variant	148823							g.chr1:247712512C>A	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.19C>A	1.37:g.247712512C>A						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_Intron	p.R7R	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		1	64	+	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)		7					B2R4Y5|B3KX46|Q5JQT3	Silent	SNP	ENST00000366488.4	37	c.19C>A	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838153	0.91117	.	.	ENSG00000169224	ENST00000366490	.	.	.	3.26	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-7.6788	11.557	0.50755	0.2794:0.7206:0.0:0.0	.	.	.	.	X	127	.	ENSP00000355446:C127X	C	+	3	2	C1orf150	245779135	0.002000	0.14202	0.000000	0.03702	0.978000	0.69477	-0.619000	0.05572	-0.497000	0.06641	-0.467000	0.05162	TGC		PASS	0.468	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		38	82	38	82	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58366799	58366799	+	Splice_Site	SNP	A	A	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:58366799A>T	ENST00000435505.2	+	14	1601		c.e14-1		VRK2_ENST00000412104.2_Splice_Site|VRK2_ENST00000417641.2_Splice_Site|VRK2_ENST00000440705.2_Splice_Site|VRK2_ENST00000340157.4_Splice_Site			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2						cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AATAATTCACAGGTGAAATAG	0.318																																						uc002rzo.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e14-2		vaccinia related kinase 2 isoform 2							48.0	48.0	48.0					2																	58366799		2203	4299	6502	SO:0001630	splice_region_variant	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58366799A>T	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.857-1A>T	2.37:g.58366799A>T						VRK2_uc010fcb.2_Splice_Site_p.C286_splice|VRK2_uc002rzs.2_Splice_Site_p.C286_splice|VRK2_uc002rzr.2_Splice_Site_p.C286_splice|VRK2_uc010fcc.2_Splice_Site_p.C168_splice|VRK2_uc002rzv.2_Splice_Site_p.C286_splice|VRK2_uc010fcd.2_Splice_Site_p.C263_splice|VRK2_uc002rzp.2_Splice_Site_p.C286_splice|VRK2_uc010ypg.1_Splice_Site_p.C286_splice|VRK2_uc002rzq.2_Splice_Site_p.C286_splice|VRK2_uc002rzu.2_Splice_Site_p.C286_splice|VRK2_uc002rzt.2_Splice_Site_p.C168_splice	p.C286_splice	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			14	1602	+								B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Splice_Site	SNP	ENST00000435505.2	37	c.857_splice	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615967	0.66672	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5549	0.68094	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VRK2	58220303	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.947000	0.70242	2.228000	0.72767	0.533000	0.62120	.		PASS	0.318	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	Intron	23	88	23	88	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61576402	61576402	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:61576402C>G	ENST00000398571.2	-	13	1602	c.1526G>C	c.(1525-1527)aGa>aCa	p.R509T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	509					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R509T(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGAGCTGTTCTTCTAAGCTC	0.348																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(1525-1527)AGA>ACA		ubiquitin specific protease 34							105.0	98.0	100.0					2																	61576402		1846	4086	5932	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61576402C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1526G>C	2.37:g.61576402C>G	ENSP00000381577:p.Arg509Thr						p.R509T	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		13	1548	-			509					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1526G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121509	0.56613	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03468	3.92	5.65	5.65	0.86999	.	0.528161	0.23351	N	0.049121	T	0.06050	0.0157	N	0.08118	0	0.42141	D	0.991511	D	0.54601	0.967	P	0.60789	0.879	T	0.61734	-0.7002	10	0.12430	T	0.62	.	18.2766	0.90085	0.0:1.0:0.0:0.0	.	509	Q70CQ2	UBP34_HUMAN	T	357;357;509	ENSP00000381577:R509T	ENSP00000263989:R357T	R	-	2	0	USP34	61429906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.464000	0.53057	2.824000	0.97209	0.655000	0.94253	AGA		PASS	0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	143	4	143	---	---	---	---
SPR	6697	broad.mit.edu	37	2	73118540	73118540	+	Silent	SNP	A	A	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:73118540A>G	ENST00000234454.5	+	3	733	c.660A>G	c.(658-660)aaA>aaG	p.K220K	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	220					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)	p.K220K(1)		lung(4)|ovary(2)	6						ACATGCGAAAAGGGCTGCAGG	0.557																																						uc002sik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(658-660)AAA>AAG		sepiapterin reductase							76.0	71.0	73.0					2																	73118540		2203	4300	6503	SO:0001819	synonymous_variant	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73118540A>G		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.660A>G	2.37:g.73118540A>G							p.K220K	NM_003124	NP_003115	P35270	SPRE_HUMAN			3	710	+			220					A8K741|D6W5H2|Q53GI9|Q9UBB1	Silent	SNP	ENST00000234454.5	37	c.660A>G	CCDS1920.1																																																																																				PASS	0.557	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			3	131	3	131	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98853155	98853155	+	Missense_Mutation	SNP	G	G	T	rs370362777		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:98853155G>T	ENST00000477737.1	+	19	2839	c.2635G>T	c.(2635-2637)Gtc>Ttc	p.V879F		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	879								p.V879F(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTATGTTCCCGTCCTGGACAA	0.478																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(2635-2637)GTC>TTC		von Willebrand factor A domain containing 3B							128.0	135.0	133.0					2																	98853155		2029	4200	6229	SO:0001583	missense	200403							g.chr2:98853155G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2635G>T	2.37:g.98853155G>T	ENSP00000417955:p.Val879Phe					VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.V398F|VWA3B_uc002sym.2_Missense_Mutation_p.V879F|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.V536F|VWA3B_uc002syp.1_Missense_Mutation_p.V271F|VWA3B_uc002syq.1_Missense_Mutation_p.V155F|VWA3B_uc002syr.1_Missense_Mutation_p.V196F|VWA3B_uc010fih.1_RNA	p.V879F	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			19	2899	+			879					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2635G>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.027023|2.027023	0.35797|0.35797	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.07444	.|3.19	4.93|4.93	-5.54|-5.54	0.02544|0.02544	.|.	.|0.860524	.|0.09978	.|N	.|0.731380	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999994|0.999994	.|D;D;P;B	.|0.58268	.|0.96;0.982;0.952;0.012	.|P;P;P;B	.|0.53185	.|0.645;0.72;0.716;0.02	T|T	0.12915|0.12915	-1.0529|-1.0529	5|10	.|0.72032	.|D	.|0.01	.|.	8.9965|8.9965	0.36055|0.36055	0.3303:0.0:0.5651:0.1046|0.3303:0.0:0.5651:0.1046	.|.	.|271;879;879;879	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	L|F	289|879	.|ENSP00000417955:V879F	.|ENSP00000417955:V879F	R|V	+|+	2|1	0|0	VWA3B|VWA3B	98219587|98219587	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.082000|0.082000	0.17680|0.17680	0.010000|0.010000	0.13242|0.13242	-1.438000|-1.438000	0.01965|0.01965	-0.218000|-0.218000	0.12543|0.12543	CGT|GTC		PASS	0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		66	165	66	165	---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114483083	114483083	+	Silent	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:114483083T>C	ENST00000245680.2	-	12	1535	c.1122A>G	c.(1120-1122)ttA>ttG	p.L374L	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	374	Poly-Leu.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L374L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AACCTGGCCATAAGAGCAGCA	0.308																																						uc002tku.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1120-1122)TTA>TTG		solute carrier family 35, member F5							73.0	74.0	74.0					2																	114483083		2203	4300	6503	SO:0001819	synonymous_variant	80255				transport	integral to membrane		g.chr2:114483083T>C	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1122A>G	2.37:g.114483083T>C						SLC35F5_uc002tkt.2_RNA	p.L374L	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			12	1546	-			374			Poly-Leu.|Helical; (Potential).		Q9H6P8|Q9H7D8	Silent	SNP	ENST00000245680.2	37	c.1122A>G	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	T	8.955	0.969165	0.18659	.	.	ENSG00000115084	ENST00000447673	.	.	.	5.95	-3.4	0.04853	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53844	-0.8381	4	.	.	.	-14.8028	11.1545	0.48480	0.0:0.5266:0.1035:0.3699	.	.	.	.	V	137	.	.	M	-	1	0	SLC35F5	114199553	0.549000	0.26481	0.965000	0.40720	0.930000	0.56654	-0.274000	0.08537	-0.617000	0.05664	-0.371000	0.07208	ATG		PASS	0.308	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		44	85	44	85	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149226468	149226468	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:149226468C>G	ENST00000407073.1	+	9	1953	c.956C>G	c.(955-957)aCt>aGt	p.T319S	MBD5_ENST00000404807.1_Missense_Mutation_p.T319S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	319					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.T319S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AATTTTTCAACTAATATGGAA	0.443																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(955-957)ACT>AGT		methyl-CpG binding domain protein 5							62.0	59.0	60.0					2																	149226468		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226468C>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.956C>G	2.37:g.149226468C>G	ENSP00000386049:p.Thr319Ser					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.T319S|MBD5_uc002twn.1_5'Flank	p.T319S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	1944	+			319					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.956C>G	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.442|0.442	-0.897878|-0.897878	0.02472|0.02472	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.35973	.|1.28;1.28	5.45|5.45	3.62|3.62	0.41486|0.41486	.|.	.|0.590458	.|0.17205	.|N	.|0.182961	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.999905|0.999905	.|B	.|0.09022	.|0.002	.|B	.|0.14578	.|0.011	T|T	0.22556|0.22556	-1.0213|-1.0213	5|10	.|0.08599	.|T	.|0.76	0.3886|0.3886	11.2327|11.2327	0.48923|0.48923	0.135:0.6048:0.2601:0.0|0.135:0.6048:0.2601:0.0	.|.	.|319	.|Q9P267	.|MBD5_HUMAN	V|S	59|319	.|ENSP00000386049:T319S;ENSP00000384672:T319S	.|ENSP00000384672:T319S	L|T	+|+	1|2	2|0	MBD5|MBD5	148942938|148942938	0.747000|0.747000	0.28283|0.28283	0.993000|0.993000	0.49108|0.49108	0.976000|0.976000	0.68499|0.68499	2.289000|2.289000	0.43523|0.43523	0.756000|0.756000	0.33013|0.33013	0.655000|0.655000	0.94253|0.94253	CTA|ACT		PASS	0.443	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			6	159	6	159	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149226481	149226481	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:149226481A>G	ENST00000407073.1	+	9	1966	c.969A>G	c.(967-969)atA>atG	p.I323M	MBD5_ENST00000404807.1_Missense_Mutation_p.I323M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	323					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.I323M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATATGGAAATACCACGAGCAA	0.433																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(967-969)ATA>ATG		methyl-CpG binding domain protein 5							67.0	60.0	63.0					2																	149226481		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226481A>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.969A>G	2.37:g.149226481A>G	ENSP00000386049:p.Ile323Met					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.I323M|MBD5_uc002twn.1_5'Flank	p.I323M	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	1957	+			323					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.969A>G	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.433|2.433	-0.330477|-0.330477	0.05314|0.05314	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.38722|.	1.12;1.12|.	5.45|5.45	2.94|2.94	0.34122|0.34122	.|.	0.156521|.	0.45606|.	N|.	0.000353|.	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.03608|0.03608	-0.345|-0.345	0.33382|0.33382	D|D	0.574979|0.574979	B|.	0.10296|.	0.003|.	B|.	0.09377|.	0.004|.	T|T	0.16482|0.16482	-1.0401|-1.0401	10|5	0.48119|.	T|.	0.1|.	-1.2812|-1.2812	1.688|1.688	0.02845|0.02845	0.5718:0.1427:0.1485:0.1371|0.5718:0.1427:0.1485:0.1371	.|.	323|.	Q9P267|.	MBD5_HUMAN|.	M|C	323|63	ENSP00000386049:I323M;ENSP00000384672:I323M|.	ENSP00000384672:I323M|.	I|Y	+|+	3|2	3|0	MBD5|MBD5	148942951|148942951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.790000|1.790000	0.38734|0.38734	1.026000|1.026000	0.39733|0.39733	0.533000|0.533000	0.62120|0.62120	ATA|TAC		PASS	0.433	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			6	146	6	146	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169781299	169781299	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:169781299G>C	ENST00000263817.6	-	27	3757	c.3633C>G	c.(3631-3633)aaC>aaG	p.N1211K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1211	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.N1211K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GGGACCCAACGTTAGTTTCAT	0.413																																						uc002ueo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(3631-3633)AAC>AAG		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						67.0	67.0	67.0					2																	169781299		1837	4075	5912	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169781299G>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3633C>G	2.37:g.169781299G>C	ENSP00000263817:p.Asn1211Lys					ABCB11_uc010zda.1_Missense_Mutation_p.N629K|ABCB11_uc010zdb.1_Missense_Mutation_p.N687K	p.N1211K	NM_003742	NP_003733	O95342	ABCBB_HUMAN			27	3759	-			1211			Cytoplasmic (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3633C>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186222	0.57909	.	.	ENSG00000073734	ENST00000263817	D	0.90133	-2.62	5.67	-7.73	0.01245	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.082904	0.85682	D	0.000000	T	0.75488	0.3856	N	0.01168	-0.975	0.53688	D	0.99997	P;P	0.41102	0.57;0.738	P;P	0.51582	0.495;0.674	T	0.75614	-0.3257	10	0.24483	T	0.36	.	9.6354	0.39804	0.4501:0.104:0.4459:0.0	.	629;1211	B4DZQ8;O95342	.;ABCBB_HUMAN	K	1211	ENSP00000263817:N1211K	ENSP00000263817:N1211K	N	-	3	2	ABCB11	169489545	0.006000	0.16342	0.891000	0.34965	0.968000	0.65278	-0.784000	0.04633	-1.320000	0.02283	-1.034000	0.02401	AAC		PASS	0.413	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		48	144	48	144	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395669	179395669	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:179395669C>T	ENST00000591111.1	-	308	100974	c.100750G>A	c.(100750-100752)Gaa>Aaa	p.E33584K	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32657K|TTN_ENST00000460472.2_Missense_Mutation_p.E26160K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E35225K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26352K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26285K|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33584					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.E26285K(1)|p.E32657K(1)|p.E32655K(1)|p.E26352K(1)|p.E26160K(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)			ACAGCCTTTTCAGTTACCCTG	0.488																																						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.(97969-97971)GAA>AAA		titin isoform N2-A							177.0	172.0	174.0					2																	179395669		1892	4107	5999	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395669C>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.100750G>A	2.37:g.179395669C>T	ENSP00000465570:p.Glu33584Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26352K|TTN_uc010zfi.1_Missense_Mutation_p.E26285K|TTN_uc010zfj.1_Missense_Mutation_p.E26160K|TTN_uc002umq.2_5'Flank	p.E32657K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98193	-			33584					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.97969G>A		.	.	.	.	.	.	.	.	.	.	C	16.69	3.193679	0.58017	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;0.1;0.07;0.07	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.52933	0.1765	L	0.29908	0.895	0.44462	D	0.997399	B;B;B;B	0.28512	0.214;0.214;0.214;0.214	B;B;B;B	0.21546	0.035;0.035;0.035;0.035	T	0.56318	-0.7999	9	0.87932	D	0	.	18.2867	0.90117	0.0:1.0:0.0:0.0	.	26160;26285;26352;33584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	32657;26160;26352;26285;26157	ENSP00000343764:E32657K;ENSP00000434586:E26160K;ENSP00000340554:E26352K;ENSP00000352154:E26285K	ENSP00000340554:E26352K	E	-	1	0	TTN	179103915	1.000000	0.71417	0.938000	0.37757	0.962000	0.63368	5.759000	0.68785	2.321000	0.78463	0.455000	0.32223	GAA		PASS	0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	441	8	441	---	---	---	---
RFTN2	130132	broad.mit.edu	37	2	198498484	198498484	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:198498484G>T	ENST00000295049.4	-	4	1212	c.676C>A	c.(676-678)Caa>Aaa	p.Q226K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	226					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.Q226K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CTGCCATTTTGTTCCATTTGA	0.363																																						uc002uuo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CAA>AAA		raftlin family member 2							179.0	166.0	171.0					2																	198498484		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198498484G>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.676C>A	2.37:g.198498484G>T	ENSP00000295049:p.Gln226Lys						p.Q226K	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			4	1078	-			226					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.676C>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167406	0.21621	.	.	ENSG00000162944	ENST00000295049	T	0.28454	1.61	5.08	0.688	0.18027	.	1.772750	0.03705	N	0.249281	T	0.15565	0.0375	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22277	-1.0221	10	0.23302	T	0.38	0.3912	9.2845	0.37749	0.0:0.108:0.3868:0.5052	.	226	Q52LD8	RFTN2_HUMAN	K	226	ENSP00000295049:Q226K	ENSP00000295049:Q226K	Q	-	1	0	RFTN2	198206729	0.048000	0.20356	0.000000	0.03702	0.891000	0.51852	1.108000	0.31123	0.195000	0.20347	0.655000	0.94253	CAA		PASS	0.363	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		56	225	56	225	---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236653377	236653377	+	Silent	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:236653377C>T	ENST00000304032.8	+	5	1012	c.432C>T	c.(430-432)ttC>ttT	p.F144F	AGAP1_ENST00000428334.2_5'Flank|AGAP1_ENST00000409538.1_Silent_p.F409F|AGAP1_ENST00000409457.1_Silent_p.F144F|AGAP1_ENST00000336665.5_Silent_p.F144F	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	144	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.F144F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATTTGTCTTCAGCTTGGAGG	0.488																																						uc002vvs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(430-432)TTC>TTT		centaurin, gamma 2 isoform 1							154.0	139.0	144.0					2																	236653377		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236653377C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.432C>T	2.37:g.236653377C>T						AGAP1_uc002vvt.2_Silent_p.F144F	p.F144F	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			5	1027	+			144			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.432C>T	CCDS33408.1																																																																																				PASS	0.488	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		9	206	9	206	---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236653401	236653401	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr2:236653401C>G	ENST00000304032.8	+	5	1036	c.456C>G	c.(454-456)ttC>ttG	p.F152L	AGAP1_ENST00000428334.2_5'Flank|AGAP1_ENST00000409538.1_Missense_Mutation_p.F417L|AGAP1_ENST00000409457.1_Missense_Mutation_p.F152L|AGAP1_ENST00000336665.5_Missense_Mutation_p.F152L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	152	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.F152L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAATAAGTTTCCAGACCGTTT	0.507																																						uc002vvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(454-456)TTC>TTG		centaurin, gamma 2 isoform 1							145.0	131.0	136.0					2																	236653401		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236653401C>G	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.456C>G	2.37:g.236653401C>G	ENSP00000307634:p.Phe152Leu					AGAP1_uc002vvt.2_Missense_Mutation_p.F152L	p.F152L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			5	1051	+			152			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.456C>G	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594435	0.86953	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.36	4.49	0.54785	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.78314	0.979;0.991	T	0.81219	-0.1032	10	0.87932	D	0	.	10.1213	0.42623	0.0:0.8478:0.0:0.1522	.	152;152	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	152;152;152;99;417	ENSP00000387174:F152L;ENSP00000307634:F152L;ENSP00000338378:F152L;ENSP00000385492:F99L;ENSP00000386897:F417L	ENSP00000307634:F152L	F	+	3	2	AGAP1	236318140	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.486000	0.45259	1.268000	0.44264	0.650000	0.86243	TTC		PASS	0.507	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		7	163	7	163	---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10861396	10861397	+	Splice_Site	DNP	GG	GG	TT			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr3:10861396_10861397GG>TT	ENST00000254488.2	+	3	457_458	c.391_392GG>TT	c.(391-393)GGc>TTc	p.G131F	SLC6A11_ENST00000454147.1_Splice_Site_p.G131F	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	131					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.?(2)|p.G131V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGTCCTTTCAGGCATTGGCTAT	0.406																																						uc003bvz.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	skin(3)|ovary(1)	4						c.e3-1|c.(391-393)GGC>GTC		solute carrier family 6 (neurotransmitter																																				SO:0001630	splice_region_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10861396G>T|g.chr3:10861397G>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	Exception_encountered	3.37:g.10861396_10861397delinsTT						SLC6A11_uc003bvy.1_Splice_Site_p.G131_splice|SLC6A11_uc003bvy.1_Missense_Mutation_p.G131V	p.G131_splice|p.G131V	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	3	426	+			|131			|Helical; Name=3; (Potential).		B2R6U6|Q8IYC9	Splice_Site|Missense_Mutation	SNP	ENST00000254488.2	37	c.392_splice|c.392G>T	CCDS2602.1																																																																																				PASS	0.406	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	Missense_Mutation	96|97	178|176	96	176	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52551041	52551041	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr3:52551041C>T	ENST00000321725.6	+	42	4481	c.4405C>T	c.(4405-4407)Cat>Tat	p.H1469Y		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1469	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.H1469Y(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCTCCCCTCATGCCAACTG	0.677																																						uc003dej.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(4405-4407)CAT>TAT		stabilin 1 precursor							47.0	51.0	49.0					3																	52551041		2203	4299	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551041C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4405C>T	3.37:g.52551041C>T	ENSP00000312946:p.His1469Tyr					STAB1_uc003dek.1_5'Flank	p.H1469Y	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	42	4479	+			1469			Extracellular (Potential).|EGF-like 11.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4405C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	9.706	1.155899	0.21454	.	.	ENSG00000010327	ENST00000321725	D	0.87103	-2.21	3.96	1.09	0.20402	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.509135	0.21839	N	0.068352	T	0.79429	0.4444	L	0.42686	1.345	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.66544	-0.5897	10	0.42905	T	0.14	.	7.2774	0.26292	0.0:0.7034:0.0:0.2966	.	1469	Q9NY15	STAB1_HUMAN	Y	1469	ENSP00000312946:H1469Y	ENSP00000312946:H1469Y	H	+	1	0	STAB1	52526081	0.001000	0.12720	0.905000	0.35620	0.831000	0.47069	0.026000	0.13599	0.097000	0.17492	-0.291000	0.09656	CAT		PASS	0.677	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	93	4	93	---	---	---	---
FAM208A	23272	broad.mit.edu	37	3	56675432	56675432	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr3:56675432G>A	ENST00000493960.2	-	15	2574	c.2564C>T	c.(2563-2565)tCt>tTt	p.S855F	FAM208A_ENST00000355628.5_Missense_Mutation_p.S855F|FAM208A_ENST00000431842.2_Missense_Mutation_p.S459F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	855							poly(A) RNA binding (GO:0044822)	p.S459F(1)|p.S855F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AATAGCAACAGAATACTTAGA	0.388																																						uc003did.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2563-2565)TCT>TTT		retinoblastoma-associated protein 140 isoform b							113.0	103.0	106.0					3																	56675432		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56675432G>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2564C>T	3.37:g.56675432G>A	ENSP00000417509:p.Ser855Phe					C3orf63_uc003dic.3_Missense_Mutation_p.S459F|C3orf63_uc003die.3_Missense_Mutation_p.S855F	p.S855F	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	15	2665	-			855					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.2564C>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962897	0.53507	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12672	2.66;2.85;2.84	5.99	5.99	0.97316	.	0.082500	0.53938	D	0.000059	T	0.13798	0.0334	N	0.08118	0	0.36765	D	0.883503	P;P;P	0.48503	0.911;0.683;0.824	P;B;B	0.49226	0.603;0.161;0.393	T	0.12708	-1.0537	10	0.62326	D	0.03	-8.9098	18.6582	0.91462	0.0:0.0:1.0:0.0	.	855;855;459	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	F	459;855;855	ENSP00000399410:S459F;ENSP00000417509:S855F;ENSP00000347845:S855F	ENSP00000347845:S855F	S	-	2	0	C3orf63	56650472	1.000000	0.71417	0.992000	0.48379	0.644000	0.38419	6.209000	0.72171	2.840000	0.97914	0.655000	0.94253	TCT		PASS	0.388	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		4	88	4	88	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66449460	66449460	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr3:66449460A>G	ENST00000273261.3	-	10	1690	c.1166T>C	c.(1165-1167)cTg>cCg	p.L389P	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.L413P	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	389					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.L389P(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTTTCCAAACAGAGTCCTGTA	0.473																																						uc003dmx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1165-1167)CTG>CCG		leucine-rich repeats and immunoglobulin-like							61.0	52.0	55.0					3																	66449460		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66449460A>G	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1166T>C	3.37:g.66449460A>G	ENSP00000273261:p.Leu389Pro					LRIG1_uc011bfu.1_Missense_Mutation_p.L9P|LRIG1_uc003dmw.2_Missense_Mutation_p.L55P|LRIG1_uc010hnz.2_Intron|LRIG1_uc010hoa.2_Missense_Mutation_p.L413P	p.L389P	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	10	1180	-		Lung NSC(201;0.0101)	389			Extracellular (Potential).|LRR 14.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.1166T>C	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092507	0.76756	.	.	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.75821	-0.97;1.07	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.91958	0.7453	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95140	0.8263	10	0.87932	D	0	.	15.5494	0.76137	1.0:0.0:0.0:0.0	.	413;389	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	P	389;413	ENSP00000273261:L389P;ENSP00000373208:L413P	ENSP00000273261:L389P	L	-	2	0	LRIG1	66532150	1.000000	0.71417	0.987000	0.45799	0.750000	0.42670	9.339000	0.96797	2.068000	0.61886	0.533000	0.62120	CTG		PASS	0.473	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		20	23	20	23	---	---	---	---
OR5K3	403277	broad.mit.edu	37	3	98109948	98109949	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr3:98109948_98109949GG>CT	ENST00000383695.1	+	1	439_440	c.439_440GG>CT	c.(439-441)GGa>CTa	p.G147L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G147A(1)|p.G147R(1)|p.G147L(1)|p.G147V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GATGACTGCAGGAGCCTACCTA	0.465																																						uc011bgw.1																			4	Substitution - Missense(4)		lung(4)		0						c.(439-441)GGA>CGA|c.(439-441)GGA>GTA		olfactory receptor, family 5, subfamily K,																																				SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109948G>C|g.chr3:98109949G>T		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	Exception_encountered	3.37:g.98109948_98109949delinsCT	ENSP00000373194:p.Gly147Leu						p.G147R|p.G147V	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	439|440	+			147			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.439G>C|c.440G>T	CCDS33803.1																																																																																				PASS	0.465	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			60|64	306|301	60	301	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151067921	151067921	+	Silent	SNP	A	A	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr3:151067921A>G	ENST00000474524.1	+	15	2258	c.2220A>G	c.(2218-2220)gcA>gcG	p.A740A	MED12L_ENST00000273432.4_Silent_p.A600A|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	740						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A740A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGATGAAGCAAGGCATCAGC	0.413																																						uc003eyp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2218-2220)GCA>GCG		mediator of RNA polymerase II transcription,							179.0	183.0	181.0					3																	151067921		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067921A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2220A>G	3.37:g.151067921A>G						MED12L_uc011bnz.1_Silent_p.A600A|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron	p.A740A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2258	+			740					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.2220A>G	CCDS33876.1																																																																																				PASS	0.413	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		146	514	146	514	---	---	---	---
ZNF718	255403	broad.mit.edu	37	4	155143	155143	+	lincRNA	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr4:155143G>C	ENST00000510175.1	+	0	578							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATTCATGCCAGAGAGAAATTC	0.378																																						uc003fzt.3																			0					0						c.(667-669)AGA>ACA		zinc finger protein 718							25.0	28.0	27.0					4																	155143		2093	4261	6354			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155143G>C	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155143G>C						ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.E3Q	p.R223T	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	801	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	223					Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37	c.668G>C																																																																																					PASS	0.378	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		3	57	3	57	---	---	---	---
GRSF1	2926	broad.mit.edu	37	4	71698085	71698085	+	Silent	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr4:71698085C>T	ENST00000254799.6	-	4	870	c.753G>A	c.(751-753)gtG>gtA	p.V251V	GRSF1_ENST00000439371.1_Silent_p.V89V|GRSF1_ENST00000502323.1_Silent_p.V89V|GRSF1_ENST00000545193.1_Silent_p.V133V|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	251	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V251V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TCAAACGAACCACACCATCAT	0.393																																						uc010iia.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)GTG>GTA		G-rich RNA sequence binding factor 1 isoform 1							138.0	137.0	137.0					4																	71698085		1914	4126	6040	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71698085C>T	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.753G>A	4.37:g.71698085C>T						GRSF1_uc011caz.1_Silent_p.V133V|GRSF1_uc003hfs.2_Silent_p.V89V	p.V251V	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		4	836	-		all_hematologic(202;0.21)	251			RRM 2.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.753G>A	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	C	7.017	0.557936	0.13436	.	.	ENSG00000132463	ENST00000514161	.	.	.	5.93	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8932	0.05682	0.2178:0.4366:0.2174:0.1282	.	.	.	.	X	188	.	.	W	-	2	0	GRSF1	71916949	0.901000	0.30685	0.996000	0.52242	0.608000	0.37181	-0.019000	0.12546	0.415000	0.25817	-0.878000	0.02970	TGG		PASS	0.393	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		18	87	18	87	---	---	---	---
ADH1B	125	broad.mit.edu	37	4	100231999	100231999	+	Silent	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr4:100231999T>C	ENST00000305046.8	-	8	1093	c.1026A>G	c.(1024-1026)tcA>tcG	p.S342S	ADH1B_ENST00000394887.3_Silent_p.S302S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	342				Missing (in Ref. 11; BAG62635). {ECO:0000305}.	ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.S342S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	ACGCATCCAGTGAAAACTTCT	0.358																																						uc003hus.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1024-1026)TCA>TCG		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						115.0	117.0	116.0					4																	100231999		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100231999T>C	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.1026A>G	4.37:g.100231999T>C						ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.S302S|ADH1B_uc011ceh.1_Silent_p.S187S|ADH1B_uc011cei.1_Silent_p.S302S	p.S342S	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	8	1110	-			342					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.1026A>G	CCDS34033.1																																																																																				PASS	0.358	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		42	153	42	153	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125591827	125591827	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr4:125591827G>T	ENST00000504087.1	-	4	3642	c.2605C>A	c.(2605-2607)Caa>Aaa	p.Q869K	ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q690K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	869								p.Q869K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTAGCACCTTGTTCAATAAGT	0.388																																						uc003ifg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2605-2607)CAA>AAA		ankyrin repeat domain 50							167.0	161.0	163.0					4																	125591827		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591827G>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2605C>A	4.37:g.125591827G>T	ENSP00000425658:p.Gln869Lys					ANKRD50_uc011cgo.1_Missense_Mutation_p.Q690K|ANKRD50_uc010inw.2_Missense_Mutation_p.Q869K	p.Q869K	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2871	-			869			ANK 12.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2605C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105470	0.20632	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.16073	2.37;2.37	5.27	4.43	0.53597	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	N	0.02765	-0.5	0.52099	D	0.999943	B	0.30605	0.287	B	0.34346	0.18	T	0.34750	-0.9816	10	0.16420	T	0.52	.	14.1597	0.65438	0.072:0.0:0.928:0.0	.	869	Q9ULJ7	ANR50_HUMAN	K	869;690	ENSP00000425658:Q869K;ENSP00000425355:Q690K	ENSP00000425658:Q869K	Q	-	1	0	ANKRD50	125811277	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.060000	0.93907	1.458000	0.47871	0.561000	0.74099	CAA		PASS	0.388	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		61	198	61	198	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544783	186544783	+	Silent	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr4:186544783G>A	ENST00000284776.7	-	13	2297	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Silent_p.S500S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Silent_p.S596S|SORBS2_ENST00000355634.5_Silent_p.S696S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	596					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.S596S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGTCGCTGTCGGAAAACTCCA	0.582																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1786-1788)TCC>TCT		sorbin and SH3 domain containing 2 isoform 2							58.0	55.0	56.0					4																	186544783		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544783G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1788C>T	4.37:g.186544783G>A						SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.S696S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.S500S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.S710S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.S596S	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2646	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	596					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1788C>T	CCDS3845.1																																																																																				PASS	0.582	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		19	65	19	65	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5303866	5303866	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr5:5303866C>T	ENST00000274181.7	+	20	3311	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1058	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1058F(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCTGGTGTCCGCCTGGTCC	0.617																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(3172-3174)TCC>TTC		ADAM metallopeptidase with thrombospondin type 1							22.0	27.0	25.0					5																	5303866		2090	4234	6324	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303866C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3173C>T	5.37:g.5303866C>T	ENSP00000274181:p.Ser1058Phe					ADAMTS16_uc003jdk.1_Missense_Mutation_p.S1058F	p.S1058F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			20	3311	+			1058			TSP type-1 5.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3173C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367485	0.82463	.	.	ENSG00000145536	ENST00000274181	T	0.65916	-0.18	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.86740	2.835	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.85298	0.1071	10	0.87932	D	0	.	15.7068	0.77588	0.0:1.0:0.0:0.0	.	1058;1058	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	F	1058	ENSP00000274181:S1058F	ENSP00000274181:S1058F	S	+	2	0	ADAMTS16	5356866	1.000000	0.71417	0.683000	0.30040	0.970000	0.65996	5.961000	0.70356	2.359000	0.80004	0.650000	0.86243	TCC		PASS	0.617	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		3	46	3	46	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576688	33576688	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr5:33576688G>A	ENST00000504830.1	-	19	3778	c.3443C>T	c.(3442-3444)aCc>aTc	p.T1148I	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1063I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1148	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T1148N(1)|p.T1148I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGACCTTTGGTCAAGGTATT	0.473										HNSCC(64;0.19)																												uc003jia.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3442-3444)ACC>ATC		ADAM metallopeptidase with thrombospondin type 1							118.0	110.0	113.0					5																	33576688		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576688G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3443C>T	5.37:g.33576688G>A	ENSP00000422554:p.Thr1148Ile	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1063I	p.T1148I	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3606	-			1148			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3443C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521284	0.64747	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60424	0.21;0.19	5.33	4.45	0.53987	.	0.618268	0.17109	N	0.186695	T	0.62527	0.2435	L	0.34521	1.04	0.80722	D	1	D;P	0.56746	0.977;0.933	P;P	0.58873	0.847;0.462	T	0.62544	-0.6832	10	0.46703	T	0.11	.	14.4843	0.67606	0.0:0.1465:0.8535:0.0	.	1063;1148	P58397-3;P58397	.;ATS12_HUMAN	I	1148;1063	ENSP00000422554:T1148I;ENSP00000344847:T1063I	ENSP00000344847:T1063I	T	-	2	0	ADAMTS12	33612445	0.738000	0.28186	0.970000	0.41538	0.863000	0.49368	2.803000	0.47924	1.456000	0.47831	0.655000	0.94253	ACC		PASS	0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		54	220	54	220	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37148352	37148352	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr5:37148352T>C	ENST00000508244.1	-	41	8323	c.8230A>G	c.(8230-8232)Att>Gtt	p.I2744V	C5orf42_ENST00000274258.7_Missense_Mutation_p.I1642V|C5orf42_ENST00000425232.2_Missense_Mutation_p.I2744V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2744						integral component of membrane (GO:0016021)		p.I2744V(1)|p.I1642V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGAATTCAATGTGATCCACT	0.343																																						uc011cpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(8230-8232)ATT>GTT		hypothetical protein LOC65250							107.0	104.0	105.0					5																	37148352		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37148352T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8230A>G	5.37:g.37148352T>C	ENSP00000421690:p.Ile2744Val					C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.I1262V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.I1837V	p.I2744V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		42	8461	-	all_lung(31;0.000616)		2744					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.8230A>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	9.961	1.222909	0.22457	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20200	2.1;2.1;2.1;2.09	5.25	-2.08	0.07254	.	1.366940	0.04869	N	0.445552	T	0.08802	0.0218	N	0.11064	0.09	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.28839	-1.0031	10	0.07813	T	0.8	.	4.3683	0.11235	0.1651:0.3693:0.0:0.4657	.	2744;1642	E9PH94;Q9H799	.;CE042_HUMAN	V	2744;2744;1642;1810;1678	ENSP00000421690:I2744V;ENSP00000389014:I2744V;ENSP00000274258:I1642V;ENSP00000424223:I1810V	ENSP00000274258:I1642V	I	-	1	0	C5orf42	37184109	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	-0.082000	0.11304	-0.112000	0.11979	0.456000	0.33151	ATT		PASS	0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		56	83	56	83	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44305140	44305140	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr5:44305140T>A	ENST00000264664.4	-	3	698	c.584A>T	c.(583-585)aAa>aTa	p.K195I		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	195					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.K195I(1)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGAGGTGTTTTTCCTTCGTGT	0.438																																						uc003jog.1																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(583-585)AAA>ATA		fibroblast growth factor 10 precursor							287.0	248.0	261.0					5																	44305140		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44305140T>A		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.584A>T	5.37:g.44305140T>A	ENSP00000264664:p.Lys195Ile						p.K195I	NM_004465	NP_004456	O15520	FGF10_HUMAN			3	584	-	Lung NSC(6;1.12e-06)		195					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.584A>T	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901335	0.72754	.	.	ENSG00000070193	ENST00000264664	D	0.88664	-2.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92577	0.7642	L	0.56769	1.78	0.80722	D	1	P	0.44734	0.842	P	0.60682	0.878	D	0.91447	0.5178	10	0.35671	T	0.21	.	16.2638	0.82563	0.0:0.0:0.0:1.0	.	195	O15520	FGF10_HUMAN	I	195	ENSP00000264664:K195I	ENSP00000264664:K195I	K	-	2	0	FGF10	44340897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.093000	0.64517	2.230000	0.72887	0.533000	0.62120	AAA		PASS	0.438	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		25	386	25	386	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102472515	102472515	+	Silent	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr5:102472515C>G	ENST00000358359.3	+	4	899	c.390C>G	c.(388-390)ctC>ctG	p.L130L	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Silent_p.L130L|PPIP5K2_ENST00000414217.1_Silent_p.L130L	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	130					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.L130L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCAGTATCTCATACAAGATA	0.368																																						uc003kod.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(388-390)CTC>CTG		Histidine acid phosphatase domain containing 1							160.0	172.0	168.0					5																	102472515		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102472515C>G	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.390C>G	5.37:g.102472515C>G						PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.L130L|PPIP5K2_uc010jbo.1_Silent_p.L52L	p.L130L	NM_015216	NP_056031	O43314	VIP2_HUMAN			4	909	+			130					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.390C>G																																																																																					PASS	0.368	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		5	255	5	255	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032677	4032677	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr6:4032677C>T	ENST00000337659.6	+	2	1026	c.926C>T	c.(925-927)tCc>tTc	p.S309F	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S295F	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	309	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S309F(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGGTCACGGTCCAAAGAGAGA	0.383																																						uc003mvv.2																			1	Substitution - Missense(1)		lung(1)	breast(5)	5						c.(925-927)TCC>TTC		serine/threonine-protein kinase PRP4K							71.0	79.0	76.0					6																	4032677		2201	4299	6500	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032677C>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.926C>T	6.37:g.4032677C>T	ENSP00000337194:p.Ser309Phe					PRPF4B_uc011dhv.1_RNA	p.S309F	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			2	1017	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	309			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.926C>T	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101976	0.76983	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69040	-0.36;-0.37	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000002	T	0.75361	0.3839	L	0.52573	1.65	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.75797	-0.3191	10	0.72032	D	0.01	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	309	Q13523	PRP4B_HUMAN	F	309;295	ENSP00000337194:S309F;ENSP00000439331:S295F	ENSP00000337194:S309F	S	+	2	0	PRPF4B	3977676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.247000	0.78257	2.788000	0.95919	0.650000	0.86243	TCC		PASS	0.383	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			19	137	19	137	---	---	---	---
DST	667	broad.mit.edu	37	6	56489989	56489989	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr6:56489989C>T	ENST00000361203.3	-	31	4170	c.4163G>A	c.(4162-4164)aGa>aAa	p.R1388K	DST_ENST00000244364.6_Missense_Mutation_p.R1062K|DST_ENST00000518935.1_Missense_Mutation_p.R1062K|DST_ENST00000370769.4_Missense_Mutation_p.R1388K|DST_ENST00000370788.2_Missense_Mutation_p.R1388K|DST_ENST00000370765.6_Missense_Mutation_p.R1062K|DST_ENST00000446842.2_Missense_Mutation_p.R1062K|DST_ENST00000421834.2_Missense_Mutation_p.R1388K|DST_ENST00000312431.6_Missense_Mutation_p.R1388K|DST_ENST00000370754.5_Missense_Mutation_p.R1566K			Q03001	DYST_HUMAN	dystonin	1388					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R1062K(3)|p.R1388K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTCTGCATTCTTCGGCGTTT	0.358																																						uc003pdf.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4696-4698)AGA>AAA		dystonin isoform 2							153.0	154.0	154.0					6																	56489989		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56489989C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4163G>A	6.37:g.56489989C>T	ENSP00000354508:p.Arg1388Lys					DST_uc003pcz.3_Missense_Mutation_p.R1388K|DST_uc011dxj.1_Missense_Mutation_p.R1417K|DST_uc011dxk.1_Missense_Mutation_p.R1428K|DST_uc003pcy.3_Missense_Mutation_p.R1062K|DST_uc003pdb.2_Missense_Mutation_p.R1062K|DST_uc003pdc.3_Missense_Mutation_p.R1062K|DST_uc003pdd.3_Missense_Mutation_p.R1062K	p.R1566K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		34	4725	-	Lung NSC(77;0.103)		1388			Nuclear localization signal; in isoform 6 (By similarity).		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4697G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.61|12.61	1.988200|1.988200	0.35036|0.35036	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000522360|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.76186	.|1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;-1.0;1.88;-1.0	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.52532	.|D	.|0.000078	T|T	0.68485|0.68485	0.3006|0.3006	N|N	0.21142|0.21142	0.635|0.635	.|0.25746	.|N	.|0.985107	.|D;P;D;B;B;P;D;P	.|0.58970	.|0.984;0.85;0.984;0.188;0.328;0.854;0.984;0.953	.|D;B;D;B;B;P;D;P	.|0.68192	.|0.956;0.445;0.956;0.074;0.413;0.747;0.956;0.857	T|T	0.64453|0.64453	-0.6404|-0.6404	4|9	.|0.10902	.|T	.|0.67	.|.	18.6532|18.6532	0.91439|0.91439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1388;1388;1566;1062;1062;1062;1388;1062	.|Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.|.;.;.;.;.;.;DYST_HUMAN;.	K|K	60|1062;1566;1388;1388;1062;1388;1388;1388;1062;1428;1062;1062	.|ENSP00000244364:R1062K;ENSP00000359790:R1566K;ENSP00000359805:R1388K;ENSP00000400883:R1388K;ENSP00000393645:R1062K;ENSP00000307959:R1388K;ENSP00000359824:R1388K;ENSP00000354508:R1388K;ENSP00000404924:R1062K;ENSP00000431030:R1428K;ENSP00000359801:R1062K;ENSP00000431003:R1062K	.|ENSP00000244364:R1062K	E|R	-|-	1|2	0|0	DST|DST	56597948|56597948	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	3.161000|3.161000	0.50747|0.50747	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAA|AGA		PASS	0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	374	5	374	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76540217	76540217	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr6:76540217C>A	ENST00000369977.3	+	5	485	c.346C>A	c.(346-348)Caa>Aaa	p.Q116K	MYO6_ENST00000369981.3_Missense_Mutation_p.Q116K|MYO6_ENST00000369985.4_Missense_Mutation_p.Q116K|MYO6_ENST00000369975.1_Missense_Mutation_p.Q116K	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	116	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.Q116K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAGTCATATCAAGGAAAATC	0.308																																						uc003pih.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(346-348)CAA>AAA		myosin VI							95.0	96.0	96.0					6																	76540217		2203	4297	6500	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76540217C>A	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.346C>A	6.37:g.76540217C>A	ENSP00000358994:p.Gln116Lys					MYO6_uc003pig.1_Missense_Mutation_p.Q116K|MYO6_uc003pii.1_Missense_Mutation_p.Q116K	p.Q116K	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	5	625	+		all_hematologic(105;0.189)	116			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.346C>A	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934401	0.52866	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.78	5.78	0.91487	.	0.104953	0.64402	D	0.000002	T	0.62270	0.2414	N	0.10874	0.06	0.58432	D	0.999995	B;B	0.24483	0.104;0.004	B;B	0.18561	0.022;0.007	T	0.67241	-0.5720	10	0.02654	T	1	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	116;116	Q9UM54-2;Q9UM54-1	.;.	K	116	ENSP00000358998:Q116K;ENSP00000359002:Q116K;ENSP00000358994:Q116K;ENSP00000358992:Q116K	ENSP00000358992:Q116K	Q	+	1	0	MYO6	76596937	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	7.382000	0.79729	2.894000	0.99253	0.655000	0.94253	CAA		PASS	0.308	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		4	161	4	161	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106978181	106978181	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr6:106978181A>T	ENST00000369066.3	+	6	3972	c.3485A>T	c.(3484-3486)cAt>cTt	p.H1162L		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					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.H1162L(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATGAAAGTACATTGGGGCACG	0.348																																						uc003prh.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3484-3486)CAT>CTT		absent in melanoma 1							154.0	144.0	147.0					6																	106978181		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106978181A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3485A>T	6.37:g.106978181A>T	ENSP00000358062:p.His1162Leu						p.H1162L	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	6	3972	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1162			Beta/gamma crystallin 'Greek key' 3.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3485A>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669854	0.67814	.	.	ENSG00000112297	ENST00000369066	T	0.73152	-0.72	5.34	5.34	0.76211	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.137662	0.64402	D	0.000004	T	0.66297	0.2775	L	0.35723	1.085	0.80722	D	1	D	0.55385	0.971	P	0.56865	0.808	T	0.68569	-0.5374	10	0.42905	T	0.14	.	15.3156	0.74074	1.0:0.0:0.0:0.0	.	1162	Q9Y4K1	AIM1_HUMAN	L	1162	ENSP00000358062:H1162L	ENSP00000358062:H1162L	H	+	2	0	AIM1	107084874	0.999000	0.42202	0.987000	0.45799	0.835000	0.47333	5.148000	0.64857	2.019000	0.59389	0.533000	0.62120	CAT		PASS	0.348	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			44	188	44	188	---	---	---	---
WISP3	8838	broad.mit.edu	37	6	112389555	112389555	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr6:112389555T>C	ENST00000368666.2	+	4	1023	c.737T>C	c.(736-738)cTg>cCg	p.L246P	WISP3_ENST00000230529.5_Missense_Mutation_p.L246P|WISP3_ENST00000368663.3_Missense_Mutation_p.L223P|WISP3_ENST00000361714.1_Missense_Mutation_p.L264P|WISP3_ENST00000604763.1_Missense_Mutation_p.L246P|WISP3_ENST00000409166.1_Missense_Mutation_p.L22P|TUBE1_ENST00000604814.1_5'Flank	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	246	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.L264P(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GAGAAAAGACTGTGTTACATT	0.343																																						uc003pvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)CTG>CCG		WNT1 inducible signaling pathway protein 3							71.0	65.0	67.0					6																	112389555		2203	4299	6502	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112389555T>C	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.737T>C	6.37:g.112389555T>C	ENSP00000357655:p.Leu246Pro					WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.L264P	p.L246P	NM_003880	NP_003871	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	5	847	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	246			TSP type-1.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.737T>C	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479052	0.84747	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000541491;ENST00000361714;ENST00000368663;ENST00000409166	T;T;T;T;D	0.87103	0.65;0.65;0.65;0.65;-2.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.91825	0.7413	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92943	0.6374	10	0.87932	D	0	.	16.1596	0.81693	0.0:0.0:0.0:1.0	.	264;246	O95389-2;O95389	.;WISP3_HUMAN	P	246;246;22;264;223;22	ENSP00000357655:L246P;ENSP00000230529:L246P;ENSP00000354734:L264P;ENSP00000357652:L223P;ENSP00000386467:L22P	ENSP00000230529:L246P	L	+	2	0	WISP3	112496248	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.992000	0.88273	2.216000	0.71823	0.533000	0.62120	CTG		PASS	0.343	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		18	55	18	55	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152777171	152777171	+	Silent	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr6:152777171T>C	ENST00000367255.5	-	23	3178	c.2577A>G	c.(2575-2577)ttA>ttG	p.L859L	SYNE1_ENST00000265368.4_Silent_p.L859L|SYNE1_ENST00000423061.1_Silent_p.L866L|SYNE1_ENST00000367248.3_Silent_p.L849L|SYNE1_ENST00000495090.2_Silent_p.L426L|SYNE1_ENST00000448038.1_Silent_p.L866L|SYNE1_ENST00000367253.4_Silent_p.L859L|SYNE1_ENST00000341594.5_Silent_p.L911L|SYNE1_ENST00000413186.2_Silent_p.L859L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	859					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L859L(2)|p.L866L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGACAAGCTAACAGTTCCT	0.358										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(2575-2577)TTA>TTG		spectrin repeat containing, nuclear envelope 1							101.0	98.0	99.0					6																	152777171		2203	4299	6502	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152777171T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2577A>G	6.37:g.152777171T>C		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.L866L|SYNE1_uc003qou.3_Silent_p.L859L|SYNE1_uc010kjb.1_Silent_p.L842L|SYNE1_uc003qow.2_Silent_p.L154L|SYNE1_uc003qox.1_Silent_p.L375L|SYNE1_uc003qoz.2_Silent_p.L291L|SYNE1_uc003qoy.2_Silent_p.L426L	p.L859L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	23	3179	-		Ovarian(120;0.0955)	859			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.2577A>G	CCDS5236.2																																																																																				PASS	0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	139	30	139	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13949273	13949273	+	Silent	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:13949273G>C	ENST00000430479.1	-	11	1591	c.924C>G	c.(922-924)gtC>gtG	p.V308V	ETV1_ENST00000420159.2_Silent_p.V250V|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000405358.4_Silent_p.V322V|ETV1_ENST00000405218.2_Silent_p.V308V|ETV1_ENST00000403527.1_Silent_p.V268V|ETV1_ENST00000403685.1_Silent_p.V290V|ETV1_ENST00000242066.5_Silent_p.V290V|ETV1_ENST00000399357.3_Silent_p.V205V|ETV1_ENST00000343495.5_Silent_p.V290V|ETV1_ENST00000405192.2_Silent_p.V285V	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	308					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.V308V(1)|p.V268V(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						ATTTTTCTGGGACAACACAGG	0.388			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 - coding silent(2)		lung(2)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(922-924)GTC>GTG		ets variant gene 1 isoform a							111.0	109.0	110.0					7																	13949273		1820	4073	5893	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13949273G>C		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.924C>G	7.37:g.13949273G>C						ETV1_uc011jxn.1_Silent_p.V268V|ETV1_uc011jxo.1_Silent_p.V205V|ETV1_uc011jxp.1_Silent_p.V250V|ETV1_uc003ssw.3_Silent_p.V285V|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.V290V|ETV1_uc011jxs.1_Silent_p.V290V|ETV1_uc010ktv.2_Missense_Mutation_p.S177C	p.V308V	NM_004956	NP_004947	P50549	ETV1_HUMAN			11	1663	-			308					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.924C>G	CCDS55088.1																																																																																				PASS	0.388	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		14	227	14	227	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34094781	34094781	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:34094781A>G	ENST00000297161.2	+	10	1167	c.793A>G	c.(793-795)Act>Gct	p.T265A	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Missense_Mutation_p.T265A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	265	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.T265A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCAGGACTCTACTGTGGTTTG	0.498																																						uc011kap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(793-795)ACT>GCT		BMP-binding endothelial regulator precursor							92.0	92.0	92.0					7																	34094781		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34094781A>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.793A>G	7.37:g.34094781A>G	ENSP00000297161:p.Thr265Ala						p.T265A	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			9	907	+			265			VWFC 4.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.793A>G	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543699	0.86022	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.65178	-0.14;-0.14	6.06	6.06	0.98353	von Willebrand factor, type C (1);	0.044773	0.85682	D	0.000000	T	0.72566	0.3476	L	0.52266	1.64	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.66874	-0.5813	10	0.14252	T	0.57	.	16.607	0.84832	1.0:0.0:0.0:0.0	.	265	Q8N8U9	BMPER_HUMAN	A	265	ENSP00000297161:T265A;ENSP00000393950:T265A	ENSP00000297161:T265A	T	+	1	0	BMPER	34061306	1.000000	0.71417	0.150000	0.22450	0.871000	0.50021	6.020000	0.70826	2.319000	0.78375	0.523000	0.50628	ACT		PASS	0.498	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		51	180	51	180	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92764414	92764414	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:92764414C>T	ENST00000318238.4	-	5	2087	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E291K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E291K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	291					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.E291K(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAAGGACTTCCACAAACCTT	0.363																																						uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(871-873)GAA>AAA		sterile alpha motif domain containing 9-like							102.0	106.0	105.0					7																	92764414		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92764414C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.871G>A	7.37:g.92764414C>T	ENSP00000326247:p.Glu291Lys					SAMD9L_uc003umj.1_Missense_Mutation_p.E291K|SAMD9L_uc003umi.1_Missense_Mutation_p.E291K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E291K|SAMD9L_uc003umk.1_Missense_Mutation_p.E291K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E291K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E291K|SAMD9L_uc011khx.1_Intron	p.E291K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2087	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		291					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.871G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568089	0.65651	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.16073	2.37;2.37;2.37	4.95	4.95	0.65309	.	0.161186	0.40222	N	0.001159	T	0.38054	0.1026	M	0.65498	2.005	0.48185	D	0.9996	D	0.63046	0.992	P	0.59357	0.856	T	0.15549	-1.0433	10	0.66056	D	0.02	-15.2369	17.9574	0.89073	0.0:1.0:0.0:0.0	.	291	Q8IVG5	SAM9L_HUMAN	K	291	ENSP00000326247:E291K;ENSP00000405760:E291K;ENSP00000408796:E291K	ENSP00000326247:E291K	E	-	1	0	SAMD9L	92602350	0.894000	0.30519	1.000000	0.80357	0.937000	0.57800	1.749000	0.38319	2.572000	0.86782	0.460000	0.39030	GAA		PASS	0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		7	350	7	350	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121944169	121944169	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:121944169G>T	ENST00000442488.2	-	1	390	c.323C>A	c.(322-324)gCg>gAg	p.A108E	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.A108E|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.A108E|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	108					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.P106_P110delPAAVP(1)|p.A108E(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGAGGGCAccgccgcgggcgc	0.716																																						uc003vkd.2																			2	Substitution - Missense(1)|Deletion - In frame(1)		lung(2)	ovary(2)|breast(1)	3						c.(322-324)GCG>GAG		FEZ family zinc finger 1 isoform 1							9.0	11.0	10.0					7																	121944169		2185	4241	6426	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944169G>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.323C>A	7.37:g.121944169G>T	ENSP00000411145:p.Ala108Glu					FEZF1_uc003vkc.2_Missense_Mutation_p.A108E|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.A108E	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	397	-			108					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.323C>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625472	0.46840	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08282	3.24;3.38;3.11	4.65	1.79	0.24919	.	0.421653	0.19992	N	0.101530	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.29232	0.238;0.1	B;B	0.41571	0.156;0.36	T	0.42632	-0.9440	10	0.33940	T	0.23	-0.675	6.5221	0.22281	0.2979:0.0:0.7021:0.0	.	108;108	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	E	108	ENSP00000411145:A108E;ENSP00000332777:A108E;ENSP00000392727:A108E	ENSP00000332777:A108E	A	-	2	0	FEZF1	121731405	0.076000	0.21285	0.105000	0.21289	0.937000	0.57800	1.405000	0.34635	0.261000	0.21753	0.555000	0.69702	GCG		PASS	0.716	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		7	13	7	13	---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148457552	148457552	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:148457552C>A	ENST00000325222.4	+	7	1032	c.753C>A	c.(751-753)ttC>ttA	p.F251L	CUL1_ENST00000602748.1_Missense_Mutation_p.F251L|CUL1_ENST00000409469.1_Missense_Mutation_p.F251L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.F251L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTACTGAATTCTTGCAGCAGA	0.348																																						uc010lpg.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(751-753)TTC>TTA		cullin 1							114.0	130.0	124.0					7																	148457552		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457552C>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.753C>A	7.37:g.148457552C>A	ENSP00000326804:p.Phe251Leu					CUL1_uc003wey.2_Missense_Mutation_p.F251L|CUL1_uc003wez.2_Missense_Mutation_p.F141L	p.F251L	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	1279	+	Melanoma(164;0.15)		251					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.753C>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313792	0.60414	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.27256	1.68;1.68	4.84	2.99	0.34606	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.55017	1.72	0.80722	D	1	B	0.32467	0.372	B	0.41466	0.358	T	0.03993	-1.0986	10	0.28530	T	0.3	-3.5313	8.7346	0.34521	0.0:0.7508:0.0:0.2492	.	251	Q13616	CUL1_HUMAN	L	251;251;209;178	ENSP00000387160:F251L;ENSP00000326804:F251L	ENSP00000326804:F251L	F	+	3	2	CUL1	148088485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.760000	0.38430	1.154000	0.42482	0.585000	0.79938	TTC		PASS	0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		6	326	6	326	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149522435	149522435	+	RNA	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:149522435G>A	ENST00000378016.2	+	0	14065							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.P76P(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCTGTGCCGACCTCTGGGA	0.622																																						uc010lpk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(14062-14064)GAC>AAC		SCO-spondin precursor							80.0	89.0	86.0					7																	149522435		2110	4225	6335			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149522435G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522435G>A						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	p.D4688N	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		101	14062	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4688			TIL 6.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.14062G>A																																																																																					PASS	0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				30	102	30	102	---	---	---	---
REPIN1	29803	broad.mit.edu	37	7	150069612	150069612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:150069612G>T	ENST00000425389.2	+	1	1360	c.1282G>T	c.(1282-1284)Gag>Tag	p.E428*	REPIN1_ENST00000489432.2_Nonsense_Mutation_p.E485*|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Nonsense_Mutation_p.E428*|REPIN1_ENST00000540729.1_Nonsense_Mutation_p.E428*|REPIN1_ENST00000397281.2_Nonsense_Mutation_p.E428*	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	428					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E485*(1)|p.E428*(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCACTCCGGCGAGCGGCCCTT	0.731																																						uc010lpq.1																			2	Substitution - Nonsense(2)		lung(2)	pancreas(1)	1						c.(1282-1284)GAG>TAG		replication initiator 1 isoform 1							5.0	7.0	6.0					7																	150069612		1861	3849	5710	SO:0001587	stop_gained	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069612G>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1282G>T	7.37:g.150069612G>T	ENSP00000388287:p.Glu428*					REPIN1_uc003whd.2_Nonsense_Mutation_p.E417*|REPIN1_uc010lpr.1_Nonsense_Mutation_p.E485*|REPIN1_uc003whc.2_Nonsense_Mutation_p.E428*|REPIN1_uc003whe.2_Nonsense_Mutation_p.E428*	p.E428*	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1771	+	Ovarian(565;0.183)|Melanoma(164;0.226)		428					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Nonsense_Mutation	SNP	ENST00000425389.2	37	c.1282G>T	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	39	7.411543	0.98269	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7366	13.8973	0.63781	0.0:0.0:1.0:0.0	.	.	.	.	X	428;428;428;485;428	.	ENSP00000380451:E428X	E	+	1	0	REPIN1	149700545	0.998000	0.40836	0.993000	0.49108	0.916000	0.54674	2.608000	0.46308	2.142000	0.66516	0.462000	0.41574	GAG		PASS	0.731	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		7	9	7	9	---	---	---	---
RNF32	140545	broad.mit.edu	37	7	156469341	156469341	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr7:156469341G>C	ENST00000405335.1	+	10	1490	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	RNF32_ENST00000343665.4_Missense_Mutation_p.E337Q|RNF32_ENST00000311822.8_3'UTR|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Missense_Mutation_p.E361Q|RNF32_ENST00000432459.2_Missense_Mutation_p.E361Q|RNF32_ENST00000392743.2_Missense_Mutation_p.E361Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	361						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.E361Q(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGATTCTTGAATGTTGAAT	0.453																																						uc003wmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)GAA>CAA		ring finger protein 32							64.0	62.0	63.0					7																	156469341		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156469341G>C		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.1081G>C	7.37:g.156469341G>C	ENSP00000385285:p.Glu361Gln					RNF32_uc010lqm.2_Missense_Mutation_p.E361Q|RNF32_uc003wmq.2_3'UTR|RNF32_uc003wmr.2_Missense_Mutation_p.E361Q|RNF32_uc003wmu.2_RNA	p.E361Q	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	9	1263	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	361					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.1081G>C	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	8.082	0.772501	0.16051	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000392743;ENST00000343665	T;T;T;T;T	0.24723	2.17;2.17;2.17;2.17;1.84	4.71	0.679	0.17975	.	0.762156	0.12388	N	0.473275	T	0.23886	0.0578	M	0.65975	2.015	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.28106	-1.0054	10	0.51188	T	0.08	-4.4205	4.4867	0.11794	0.2999:0.307:0.3931:0.0	.	361	Q9H0A6	RNF32_HUMAN	Q	361;361;361;361;337	ENSP00000405588:E361Q;ENSP00000315950:E361Q;ENSP00000385285:E361Q;ENSP00000376499:E361Q;ENSP00000341185:E337Q	ENSP00000315950:E361Q	E	+	1	0	RNF32	156162102	0.000000	0.05858	0.001000	0.08648	0.770000	0.43624	-0.094000	0.11094	-0.181000	0.10619	0.563000	0.77884	GAA		PASS	0.453	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		3	91	3	91	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67488371	67488371	+	Silent	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr8:67488371G>C	ENST00000522677.3	-	10	1751	c.1341C>G	c.(1339-1341)ctC>ctG	p.L447L	MYBL1_ENST00000524176.2_Silent_p.L447L|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	447	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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 positive regulation of transcription (GO:0001077)	p.L447L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TCTTCTTTCTGAGGATGGCTG	0.448																																						uc003xwj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1339-1341)CTC>CTG		v-myb myeloblastosis viral oncogene homolog							126.0	116.0	119.0					8																	67488371		1936	4124	6060	SO:0001819	synonymous_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488371G>C	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1341C>G	8.37:g.67488371G>C						MYBL1_uc003xwl.2_Silent_p.L447L|MYBL1_uc003xwk.2_Silent_p.L446L	p.L447L	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1748	-			447			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Silent	SNP	ENST00000522677.3	37	c.1341C>G	CCDS47867.1																																																																																				PASS	0.448	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		22	191	22	191	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89068417	89068417	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr8:89068417C>A	ENST00000286614.6	-	8	1593	c.1312G>T	c.(1312-1314)Ggt>Tgt	p.G438C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	438					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G438C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GAATCAATACCATGAGGGGGA	0.418																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1312-1314)GGT>TGT		matrix metalloproteinase 16 isoform 1							114.0	107.0	109.0					8																	89068417		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89068417C>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1312G>T	8.37:g.89068417C>A	ENSP00000286614:p.Gly438Cys						p.G438C	NM_005941	NP_005932	P51512	MMP16_HUMAN			8	1594	-			438			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1312G>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905500	0.72868	.	.	ENSG00000156103	ENST00000286614	T	0.08984	3.03	5.91	5.03	0.67393	Hemopexin/matrixin (2);	0.131806	0.64402	D	0.000001	T	0.28699	0.0711	M	0.85373	2.75	0.51767	D	0.999936	D	0.63046	0.992	P	0.57776	0.827	T	0.13282	-1.0515	10	0.66056	D	0.02	.	15.2465	0.73509	0.0:0.9329:0.0:0.0671	.	438	P51512	MMP16_HUMAN	C	438	ENSP00000286614:G438C	ENSP00000286614:G438C	G	-	1	0	MMP16	89137533	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	3.816000	0.55658	1.502000	0.48669	-0.150000	0.13652	GGT		PASS	0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		73	145	73	145	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89198754	89198754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr8:89198754G>A	ENST00000286614.6	-	3	636	c.355C>T	c.(355-357)Cga>Tga	p.R119*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	119					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R119*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AATGCATATCGCTTTCGACGA	0.393																																						uc003yeb.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(355-357)CGA>TGA		matrix metalloproteinase 16 isoform 1							244.0	213.0	223.0					8																	89198754		2203	4300	6503	SO:0001587	stop_gained	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89198754G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.355C>T	8.37:g.89198754G>A	ENSP00000286614:p.Arg119*					MMP16_uc003yec.2_Nonsense_Mutation_p.R119*	p.R119*	NM_005941	NP_005932	P51512	MMP16_HUMAN			3	637	-			119					B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	ENST00000286614.6	37	c.355C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	37	6.301061	0.97453	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	.	.	.	5.72	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2435	0.82429	0.0:0.0:0.8664:0.1336	.	.	.	.	X	119;136	.	ENSP00000286614:R119X	R	-	1	2	MMP16	89267870	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.369000	0.59511	1.397000	0.46682	0.585000	0.79938	CGA		PASS	0.393	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		15	601	15	601	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92378924	92378924	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr8:92378924G>T	ENST00000276609.3	+	14	1844	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.Q535H|SLC26A7_ENST00000309536.2_Missense_Mutation_p.Q535H	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.Q535H(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTGTAATCAGCCACTTGATG	0.308																																						uc003yex.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1603-1605)CAG>CAT		solute carrier family 26, member 7 isoform a							100.0	103.0	102.0					8																	92378924		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92378924G>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1605G>T	8.37:g.92378924G>T	ENSP00000276609:p.Gln535His					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.Q535H|SLC26A7_uc003yfa.2_Missense_Mutation_p.Q535H	p.Q535H	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		15	1883	+			535			STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.1605G>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	7.762	0.705562	0.15172	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.92595	-3.07;-3.07;-3.07	5.33	-1.15	0.09709	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.453515	0.20495	N	0.091207	D	0.86331	0.5907	M	0.63428	1.95	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.74648	-0.3595	10	0.56958	D	0.05	.	1.7842	0.03038	0.425:0.1305:0.3113:0.1331	.	535;535	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	H	535	ENSP00000428849:Q535H;ENSP00000276609:Q535H;ENSP00000309504:Q535H	ENSP00000276609:Q535H	Q	+	3	2	SLC26A7	92448100	0.007000	0.16637	0.002000	0.10522	0.615000	0.37417	-0.076000	0.11412	-0.572000	0.06006	-0.122000	0.15005	CAG		PASS	0.308	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			103	201	103	201	---	---	---	---
RNF19A	25897	broad.mit.edu	37	8	101270912	101270912	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr8:101270912C>T	ENST00000519449.1	-	11	2705	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	RNF19A_ENST00000341084.2_Missense_Mutation_p.E797K|RNF19A_ENST00000523255.1_5'Flank	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	797	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E797K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CCATGTTCTTCAGCAATATGA	0.363																																						uc003yjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2389-2391)GAA>AAA		ring finger protein 19							105.0	103.0	103.0					8																	101270912		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101270912C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2389G>A	8.37:g.101270912C>T	ENSP00000428968:p.Glu797Lys					RNF19A_uc003yjk.1_Missense_Mutation_p.E797K	p.E797K	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		11	2706	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		797			Interaction with CASR.		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.2389G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006522	0.54361	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84516	-1.86;-1.86	6.05	6.05	0.98169	.	0.259259	0.36034	N	0.002831	D	0.83552	0.5279	L	0.47716	1.5	0.54753	D	0.999982	B	0.17667	0.023	B	0.14023	0.01	T	0.78003	-0.2374	10	0.87932	D	0	.	20.2191	0.98319	0.0:1.0:0.0:0.0	.	797	Q9NV58	RN19A_HUMAN	K	797	ENSP00000428968:E797K;ENSP00000342667:E797K	ENSP00000342667:E797K	E	-	1	0	RNF19A	101340088	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	6.294000	0.72738	2.866000	0.98385	0.650000	0.86243	GAA		PASS	0.363	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		15	246	15	246	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101721391	101721391	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr8:101721391G>A	ENST00000318607.5	-	9	2434	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.R391C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R404C|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	436					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.R436C(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCAGTCCAGCGAGGACTTGGT	0.418																																						uc003yjs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)CGC>TGC		poly(A) binding protein, cytoplasmic 1							142.0	148.0	146.0					8																	101721391		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101721391G>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1306C>T	8.37:g.101721391G>A	ENSP00000313007:p.Arg436Cys					PABPC1_uc011lhc.1_Missense_Mutation_p.R404C|PABPC1_uc011lhd.1_Missense_Mutation_p.R391C|PABPC1_uc003yjt.1_Missense_Mutation_p.R433C|PABPC1_uc003yju.2_RNA	p.R436C	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		9	1810	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		436					Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1306C>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016283	0.75161	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	T;T;T	0.32753	1.51;1.44;2.51	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000003	T	0.37404	0.1002	L	0.58510	1.815	0.80722	D	1	B;B;B	0.27068	0.081;0.167;0.089	B;B;B	0.29440	0.102;0.021;0.043	T	0.16453	-1.0402	10	0.59425	D	0.04	.	19.9992	0.97404	0.0:0.0:1.0:0.0	.	404;436;436	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	C	436;436;391;404	ENSP00000313007:R436C;ENSP00000429594:R391C;ENSP00000429395:R404C	ENSP00000313007:R436C	R	-	1	0	PABPC1	101790567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.356000	0.97091	2.793000	0.96121	0.655000	0.94253	CGC		PASS	0.418	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		8	390	8	390	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144885849	144885849	+	Missense_Mutation	SNP	C	C	T	rs201727511		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr8:144885849C>T	ENST00000320476.3	-	23	3388	c.3382G>A	c.(3382-3384)Gac>Aac	p.D1128N	SCRIB_ENST00000377533.3_Missense_Mutation_p.D1047N|SCRIB_ENST00000356994.2_Missense_Mutation_p.D1128N	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1128	Interaction with ARHGEF7.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.D1128N(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGTGGGGTCGCGGGGGTTG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		7848	0.001		0.0	False		,,,				2504	0.0				Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(3382-3384)GAC>AAC		scribble isoform b		C	ASN/ASP,ASN/ASP	1,3883		0,1,1941	4.0	6.0	5.0		3382,3382	4.5	1.0	8		5	0,7830		0,0,3915	yes	missense,missense	SCRIB	NM_015356.3,NM_182706.3	23,23	0,1,5856	TT,TC,CC		0.0,0.0257,0.0085	probably-damaging,probably-damaging	1128/1631,1128/1656	144885849	1,11713	1942	3915	5857	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144885849C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3382G>A	8.37:g.144885849C>T	ENSP00000322938:p.Asp1128Asn					SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.D1128N	p.D1128N	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		23	3389	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1128			PDZ 4.|Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.3382G>A	CCDS6411.1	4|4	0.0018315018315018315|0.0018315018315018315	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	c|c	18.14|18.14	3.556912|3.556912	0.65425|0.65425	2.57E-4|2.57E-4	0.0|0.0	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539|ENST00000526832	T;T;T|T	0.40225|0.26810	1.28;1.25;1.04|1.71	4.52|4.52	4.52|4.52	0.55395|0.55395	PDZ/DHR/GLGF (4);|.	.|.	.|.	.|.	.|.	T|T	0.29945|0.29945	0.0749|0.0749	L|L	0.58810|0.58810	1.83|1.83	0.46701|0.46701	D|D	0.999167|0.999167	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75020|.	0.985;0.974|.	T|T	0.03249|0.03249	-1.1056|-1.1056	9|7	0.45353|0.28530	T|T	0.12|0.3	.|.	14.7994|14.7994	0.69903|0.69903	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1128;1128|.	Q14160;Q14160-3|.	SCRIB_HUMAN;.|.	N|Q	1128;1128;1047;497|123	ENSP00000349486:D1128N;ENSP00000322938:D1128N;ENSP00000366756:D1047N|ENSP00000431519:R123Q	ENSP00000322938:D1128N|ENSP00000431519:R123Q	D|R	-|-	1|2	0|0	SCRIB|SCRIB	144957837|144957837	0.998000|0.998000	0.40836|0.40836	0.951000|0.951000	0.38953|0.38953	0.194000|0.194000	0.23727|0.23727	4.380000|4.380000	0.59581|0.59581	2.219000|2.219000	0.72066|0.72066	0.450000|0.450000	0.29827|0.29827	GAC|CGA		PASS	0.701	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		11	9	11	9	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77422954	77422954	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr9:77422954T>C	ENST00000360774.1	-	14	1871	c.1634A>G	c.(1633-1635)tAc>tGc	p.Y545C	TRPM6_ENST00000376864.4_Missense_Mutation_p.Y545C|TRPM6_ENST00000376872.3_Missense_Mutation_p.Y545C|TRPM6_ENST00000361255.3_Missense_Mutation_p.Y540C|TRPM6_ENST00000449912.2_Missense_Mutation_p.Y540C|TRPM6_ENST00000451710.3_Missense_Mutation_p.Y545C|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	545					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Y545C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTACCTTGTATTTTCTGTA	0.368																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(1633-1635)TAC>TGC		transient receptor potential cation channel,							193.0	189.0	190.0					9																	77422954		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77422954T>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1634A>G	9.37:g.77422954T>C	ENSP00000354006:p.Tyr545Cys					TRPM6_uc004ajk.1_Missense_Mutation_p.Y540C|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.Y545C|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	p.Y545C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			14	1872	-			545			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1634A>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	5.025	0.190378	0.09547	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.73469	-0.75;-0.75;0.63;-0.75;-0.75;-0.75	5.77	-0.539	0.11865	.	0.585061	0.18915	N	0.127624	T	0.52175	0.1718	N	0.14661	0.345	0.09310	N	0.999999	B;P;B	0.40144	0.218;0.704;0.001	B;B;B	0.36418	0.224;0.06;0.002	T	0.46735	-0.9170	10	0.39692	T	0.17	.	10.3898	0.44162	0.0:0.2931:0.0:0.7069	.	545;545;540	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	545;545;545;540;540;545;208;208	ENSP00000354006:Y545C;ENSP00000407341:Y545C;ENSP00000366068:Y545C;ENSP00000396672:Y540C;ENSP00000354962:Y540C;ENSP00000366060:Y545C	ENSP00000309693:Y208C	Y	-	2	0	TRPM6	76612774	0.000000	0.05858	0.030000	0.17652	0.023000	0.10783	-0.092000	0.11129	-0.332000	0.08489	0.482000	0.46254	TAC		PASS	0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		10	287	10	287	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79321922	79321922	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr9:79321922G>C	ENST00000376718.3	-	8	5391	c.5268C>G	c.(5266-5268)ttC>ttG	p.F1756L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.F1397L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1756					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.F1756L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATTGTCACAGAATGGGTTTG	0.428																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5266-5268)TTC>TTG		prune homolog 2							211.0	164.0	178.0					9																	79321922		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321922G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5268C>G	9.37:g.79321922G>C	ENSP00000365908:p.Phe1756Leu					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.F1756L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5392	-			1756					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5268C>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.236991|-2.236991	0.00277|0.00277	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.42131|.	0.99;0.98|.	5.91|5.91	3.93|3.93	0.45458|0.45458	.|.	1.815870|.	0.02693|.	N|.	0.110917|.	T|T	0.21550|0.21550	0.0519|0.0519	N|N	0.11560|0.11560	0.145|0.145	0.20074|0.20074	N|N	0.999935|0.999935	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.18272|0.18272	-1.0342|-1.0342	10|5	0.16896|.	T|.	0.51|.	0.9665|0.9665	10.3299|10.3299	0.43816|0.43816	0.0:0.1465:0.7014:0.1521|0.0:0.1465:0.7014:0.1521	.|.	1756|.	Q8WUY3|.	PRUN2_HUMAN|.	L|V	1756;1397;1755|1078	ENSP00000365908:F1756L;ENSP00000397425:F1397L|.	ENSP00000365908:F1756L|.	F|L	-|-	3|1	2|2	PRUNE2|PRUNE2	78511742|78511742	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	1.319000|1.319000	0.33655|0.33655	1.467000|1.467000	0.48044|0.48044	0.655000|0.655000	0.94253|0.94253	TTC|CTG		PASS	0.428	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	137	5	137	---	---	---	---
IARS	3376	broad.mit.edu	37	9	94991310	94991310	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr9:94991310C>G	ENST00000375643.3	-	31	3648	c.3382G>C	c.(3382-3384)Gag>Cag	p.E1128Q	IARS_ENST00000447699.2_Missense_Mutation_p.E1018Q|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000375627.1_3'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.E1128Q	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1128					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.E1128Q(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)	ACAGCCAGCTCTGTATTTTTC	0.428																																						uc004art.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3382-3384)GAG>CAG		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						160.0	156.0	157.0					9																	94991310		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:94991310C>G	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.3382G>C	9.37:g.94991310C>G	ENSP00000364794:p.Glu1128Gln					IARS_uc004ars.1_Intron|IARS_uc004aru.3_Missense_Mutation_p.E1128Q|IARS_uc010mqr.2_Missense_Mutation_p.E1018Q|IARS_uc010mqt.2_Missense_Mutation_p.E351Q	p.E1128Q	NM_013417	NP_038203	P41252	SYIC_HUMAN			31	3639	-			1128					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.3382G>C	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	0.159	-1.083099	0.01888	.	.	ENSG00000196305	ENST00000375643;ENST00000451588;ENST00000443024;ENST00000543028;ENST00000447699;ENST00000375660;ENST00000421189;ENST00000436450	T;T;T	0.48522	0.81;0.81;0.81	5.96	1.99	0.26369	.	0.494636	0.24285	N	0.039879	T	0.14227	0.0344	N	0.01048	-1.04	0.09310	N	1	B;B	0.19583	0.037;0.0	B;B	0.12837	0.008;0.001	T	0.21759	-1.0236	10	0.16896	T	0.51	-3.006	4.7144	0.12887	0.0:0.4291:0.2833:0.2876	.	638;1128	F5H1M4;P41252	.;SYIC_HUMAN	Q	1128;145;1128;137;1018;1128;137;145	ENSP00000364794:E1128Q;ENSP00000406448:E1128Q;ENSP00000415020:E1018Q	ENSP00000364794:E1128Q	E	-	1	0	IARS	94031131	0.638000	0.27225	0.001000	0.08648	0.005000	0.04900	0.942000	0.29017	0.389000	0.25086	0.650000	0.86243	GAG		PASS	0.428	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		17	319	17	319	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112898755	112898755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr9:112898755G>T	ENST00000259318.7	+	2	445	c.238G>T	c.(238-240)Gag>Tag	p.E80*	AKAP2_ENST00000510514.5_Nonsense_Mutation_p.E311*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.E169*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.E311*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.E169*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.E311*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.E311*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	80								p.E169*(1)|p.E311*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATCCTCCCCAGAGCCTGGTGC	0.577																																						uc004bei.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1627-1629)GAG>TAG		A kinase (PRKA) anchor protein 2 isoform 2							111.0	88.0	96.0					9																	112898755		2203	4300	6503	SO:0001587	stop_gained	445815						enzyme binding	g.chr9:112898755G>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.238G>T	9.37:g.112898755G>T	ENSP00000259318:p.Glu80*					PALM2-AKAP2_uc004bek.3_Nonsense_Mutation_p.E311*|PALM2-AKAP2_uc004bej.3_Nonsense_Mutation_p.E311*|PALM2-AKAP2_uc004bel.1_Nonsense_Mutation_p.E121*|AKAP2_uc011lwi.1_Nonsense_Mutation_p.E169*|AKAP2_uc004bem.2_Nonsense_Mutation_p.E169*|PALM2-AKAP2_uc010mtw.1_Nonsense_Mutation_p.E129*|AKAP2_uc011lwj.1_Nonsense_Mutation_p.E80*|PALM2-AKAP2_uc004ben.2_Nonsense_Mutation_p.E80*	p.E543*	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	1819	+			80					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP	ENST00000259318.7	37	c.1627G>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	36	5.879163	0.97055	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	6.17	6.17	0.99709	.	0.150314	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-37.9841	16.901	0.86113	0.0:0.1276:0.8724:0.0	.	.	.	.	X	311;311;311;311;169;169;129;80	.	ENSP00000259318:E80X	E	+	1	0	PALM2-AKAP2;AKAP2	111938576	1.000000	0.71417	0.995000	0.50966	0.622000	0.37654	6.064000	0.71169	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.577	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		70	150	70	150	---	---	---	---
NELFB	25920	broad.mit.edu	37	9	140150833	140150833	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr9:140150833C>T	ENST00000343053.4	+	3	656	c.319C>T	c.(319-321)Ccg>Tcg	p.P107S		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	107					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P107S(1)									GGTGAAGATGCCGTCCCTGCA	0.572																																						uc004cmm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CCG>TCG		cofactor of BRCA1							153.0	129.0	137.0					9																	140150833		2203	4300	6503	SO:0001583	missense	25920				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	g.chr9:140150833C>T	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.319C>T	9.37:g.140150833C>T	ENSP00000339495:p.Pro107Ser						p.P107S	NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)	3	522	+	all_cancers(76;0.0926)		107					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.319C>T	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314479	0.95655	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	M	0.74258	2.255	0.80722	D	1	D	0.61080	0.989	P	0.60012	0.867	T	0.79308	-0.1857	9	0.56958	D	0.05	-29.7272	16.707	0.85374	0.0:1.0:0.0:0.0	.	107	Q8WX92	NELFB_HUMAN	S	107	.	ENSP00000339495:P107S	P	+	1	0	COBRA1	139270654	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.501000	0.81600	2.279000	0.76181	0.561000	0.74099	CCG		PASS	0.572	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		4	115	4	115	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17142197	17142197	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:17142197C>A	ENST00000377833.4	-	14	1637	c.1572G>T	c.(1570-1572)atG>atT	p.M524I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	524	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.M524I(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACAGTTGTCCATGGATTCTA	0.383																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1570-1572)ATG>ATT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						80.0	82.0	81.0					10																	17142197		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142197C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1572G>T	10.37:g.17142197C>A	ENSP00000367064:p.Met524Ile						p.M524I	NM_001081	NP_001072	O60494	CUBN_HUMAN			14	1624	-			524			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1572G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	0.598	-0.830143	0.02734	.	.	ENSG00000107611	ENST00000377833	T	0.17370	2.28	5.51	-0.139	0.13460	CUB (5);	1.393620	0.05071	N	0.481769	T	0.06462	0.0166	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34477	-0.9827	10	0.22109	T	0.4	.	1.7599	0.02990	0.2209:0.4252:0.1936:0.1603	.	524	O60494	CUBN_HUMAN	I	524	ENSP00000367064:M524I	ENSP00000367064:M524I	M	-	3	0	CUBN	17182203	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.057000	0.11768	0.285000	0.22329	0.650000	0.86243	ATG		PASS	0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		44	119	44	119	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17432598	17432598	+	Silent	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:17432598C>A	ENST00000377602.4	-	3	296	c.222G>T	c.(220-222)tcG>tcT	p.S74S	ST8SIA6-AS1_ENST00000377597.2_RNA|ST8SIA6-AS1_ENST00000457649.2_RNA|ST8SIA6-AS1_ENST00000451225.2_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		73	270	73	270	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18254544	18254544	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:18254544A>G	ENST00000377369.2	+	4	949	c.676A>G	c.(676-678)Aac>Gac	p.N226D	SLC39A12_ENST00000539911.1_Missense_Mutation_p.N92D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.N226D|SLC39A12_ENST00000377371.3_Missense_Mutation_p.N226D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	226					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.N226D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGACAAGGAAACTTGCCTTC	0.438																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(676-678)AAC>GAC		solute carrier family 39 (zinc transporter),							83.0	79.0	80.0					10																	18254544		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18254544A>G		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.676A>G	10.37:g.18254544A>G	ENSP00000366586:p.Asn226Asp					SLC39A12_uc001ipn.2_Missense_Mutation_p.N226D|SLC39A12_uc001ipp.2_Missense_Mutation_p.N226D|SLC39A12_uc010qck.1_Missense_Mutation_p.N92D	p.N226D	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			4	949	+			226			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.676A>G	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.481897	0.26598	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.61627	0.21;0.09;0.21;0.1	6.02	-0.992	0.10232	.	0.937922	0.09177	N	0.838002	T	0.48205	0.1487	L	0.41824	1.3	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.11329	0.006;0.003;0.004	T	0.38308	-0.9667	10	0.36615	T	0.2	7.0E-4	13.3007	0.60324	0.2641:0.6711:0.0648:0.0	.	226;226;226	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	226;226;226;92;146	ENSP00000366586:N226D;ENSP00000366591:N226D;ENSP00000366588:N226D;ENSP00000440445:N92D	ENSP00000366586:N226D	N	+	1	0	SLC39A12	18294550	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	0.202000	0.17295	-0.392000	0.07751	0.533000	0.62120	AAC		PASS	0.438	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		36	89	36	89	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50690811	50690811	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:50690811T>A	ENST00000355832.5	-	10	2169	c.2091A>T	c.(2089-2091)ttA>ttT	p.L697F	ERCC6_ENST00000542458.1_Missense_Mutation_p.L67F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	697					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.L697F(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCAACGTGCCTAACTTTCCCG	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(2089-2091)TTA>TTT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							107.0	97.0	100.0					10																	50690811		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50690811T>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2091A>T	10.37:g.50690811T>A	ENSP00000348089:p.Leu697Phe					ERCC6_uc010qgr.1_Missense_Mutation_p.L67F|ERCC6_uc001jhr.3_Missense_Mutation_p.L97F	p.L697F	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			10	2245	-			697					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2091A>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251784	0.80135	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.92858	-3.12;-3.12	5.68	-6.66	0.01789	DEAD-like helicase (1);SNF2-related (1);	.	.	.	.	D	0.92799	0.7710	L	0.56769	1.78	0.45946	D	0.998778	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90886	0.4757	9	0.87932	D	0	-11.7372	8.5168	0.33250	0.0:0.3497:0.1055:0.5448	.	697;106	Q03468;Q59FF6	ERCC6_HUMAN;.	F	697;106;67	ENSP00000348089:L697F;ENSP00000445134:L67F	ENSP00000348089:L697F	L	-	3	2	ERCC6	50360817	0.896000	0.30565	0.010000	0.14722	0.996000	0.88848	0.037000	0.13840	-1.893000	0.01106	0.533000	0.62120	TTA		PASS	0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		39	136	39	136	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50856640	50856640	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:50856640C>A	ENST00000337653.2	+	9	1522	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	CHAT_ENST00000395562.2_Missense_Mutation_p.L375M|CHAT_ENST00000339797.1_Missense_Mutation_p.L339M|CHAT_ENST00000455728.2_Missense_Mutation_p.L339M|CHAT_ENST00000395559.2_Missense_Mutation_p.L339M|CHAT_ENST00000351556.3_Missense_Mutation_p.L339M	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	457					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.L457M(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CACTGAGCATCTGCTCAAGCA	0.582																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1369-1371)CTG>ATG		choline acetyltransferase isoform 2	Choline(DB00122)						90.0	57.0	69.0					10																	50856640		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50856640C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1369C>A	10.37:g.50856640C>A	ENSP00000337103:p.Leu457Met					CHAT_uc001jhv.1_Missense_Mutation_p.L339M|CHAT_uc001jhx.1_Missense_Mutation_p.L339M|CHAT_uc001jhy.1_Missense_Mutation_p.L339M|CHAT_uc001jia.2_Missense_Mutation_p.L339M|CHAT_uc010qgs.1_Missense_Mutation_p.L339M	p.L457M	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1522	+		all_neural(218;0.107)	457					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1369C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452871	0.63290	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.01	4.11	0.48088	.	0.000000	0.64402	D	0.000001	D	0.85767	0.5773	L	0.52011	1.625	0.58432	D	0.999998	D;D	0.71674	0.978;0.998	D;D	0.75020	0.918;0.985	D	0.85837	0.1395	10	0.52906	T	0.07	-15.6177	13.4579	0.61210	0.0:0.9234:0.0:0.0766	.	339;457	F8W8I2;P28329	.;CLAT_HUMAN	M	339;339;339;457;375;339	ENSP00000343486:L339M;ENSP00000345878:L339M;ENSP00000378926:L339M;ENSP00000337103:L457M;ENSP00000378929:L375M;ENSP00000390521:L339M	ENSP00000337103:L457M	L	+	1	2	CHAT	50526646	0.985000	0.35326	0.999000	0.59377	0.511000	0.34104	2.046000	0.41260	1.105000	0.41606	0.462000	0.41574	CTG		PASS	0.582	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		17	34	17	34	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79581516	79581516	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:79581516T>C	ENST00000372391.2	-	15	2731	c.2726A>G	c.(2725-2727)gAc>gGc	p.D909G	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	909					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.D909G(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCCACGCACGTCCACCAGCCC	0.677																																						uc001jzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(3)	8						c.(2725-2727)GAC>GGC		discs large homolog 5							12.0	12.0	12.0					10																	79581516		2201	4293	6494	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581516T>C	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2726A>G	10.37:g.79581516T>C	ENSP00000361467:p.Asp909Gly					DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.D513G	p.D909G	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2796	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		909					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2726A>G	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	9.831	1.188435	0.21954	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04406	3.63	5.2	5.2	0.72013	.	0.000000	0.37261	N	0.002171	T	0.07052	0.0179	L	0.47716	1.5	0.80722	D	1	B;B	0.33964	0.342;0.434	B;B	0.35413	0.202;0.099	T	0.38542	-0.9656	10	0.31617	T	0.26	.	15.3414	0.74300	0.0:0.0:0.0:1.0	.	799;909	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	G	909;458	ENSP00000361467:D909G	ENSP00000361467:D909G	D	-	2	0	DLG5	79251522	0.987000	0.35691	0.128000	0.21923	0.486000	0.33341	3.314000	0.51943	2.096000	0.63516	0.338000	0.21704	GAC		PASS	0.677	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			12	11	12	11	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87628874	87628874	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:87628874G>A	ENST00000327946.7	-	6	929	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	282					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R282W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AAGATTTGCCGGACCACGGTC	0.537										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(844-846)CGG>TGG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						186.0	152.0	164.0					10																	87628874		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628874G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.844C>T	10.37:g.87628874G>A	ENSP00000330148:p.Arg282Trp	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.R282W	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	945	-			282			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.844C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366665	0.82463	.	.	ENSG00000182771	ENST00000327946	D	0.84370	-1.84	5.82	5.82	0.92795	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91447	0.5178	10	0.87932	D	0	.	13.9926	0.64376	0.0:0.0:0.8488:0.1511	.	282	Q9ULK0	GRID1_HUMAN	W	282	ENSP00000330148:R282W	ENSP00000330148:R282W	R	-	1	2	GRID1	87618854	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	3.148000	0.50647	2.745000	0.94114	0.655000	0.94253	CGG		PASS	0.537	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		12	243	12	243	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89685287	89685287	+	Missense_Mutation	SNP	A	A	G	rs398123316		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr10:89685287A>G	ENST00000371953.3	+	3	1539	c.182A>G	c.(181-183)cAt>cGt	p.H61R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	61	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> D (in VATER). {ECO:0000269|PubMed:11748304}.|H -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.H61R(8)|p.?(6)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H61L(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)|p.H61P(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GATTCAAAGCATAAAAACCAT	0.259		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		63	Whole gene deletion(37)|Substitution - Missense(10)|Deletion - Frameshift(9)|Unknown(6)|Complex - deletion inframe(1)	p.H61R(6)|p.?(4)|p.R55fs*1(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H61P(1)|p.H61L(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)	central_nervous_system(18)|prostate(16)|lung(8)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(3)|urinary_tract(2)|breast(2)|soft_tissue(1)|endometrium(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CI022298	PTEN	I		c.(181-183)CAT>CGT		phosphatase and tensin homolog							35.0	36.0	36.0					10																	89685287		2184	4274	6458	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89685287A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.182A>G	10.37:g.89685287A>G	ENSP00000361021:p.His61Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.H61R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1213	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	61		H -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).|H -> D (in VATER).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.182A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213648	0.79352	.	.	ENSG00000171862	ENST00000371953	D	0.98666	-5.06	5.46	5.46	0.80206	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98010	1.0365	9	.	.	.	-10.6657	15.5246	0.75894	1.0:0.0:0.0:0.0	.	61	P60484	PTEN_HUMAN	R	61	ENSP00000361021:H61R	.	H	+	2	0	PTEN	89675267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.668000	0.91158	2.072000	0.62099	0.533000	0.62120	CAT		PASS	0.259	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		10	26	10	26	---	---	---	---
HBD	3045	broad.mit.edu	37	11	5255418	5255418	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:5255418G>T	ENST00000380299.3	-	2	332	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	HBD_ENST00000292901.3_Missense_Mutation_p.Q40K	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	40					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.Q40K(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAACCTCTGGGTCCAAGGG	0.512																																						uc001maf.1																			1	Substitution - Missense(1)	p.Q40H(1)	lung(1)	ovary(1)	1						c.(118-120)CAG>AAG		delta globin							96.0	95.0	96.0					11																	5255418		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255418G>T	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.118C>A	11.37:g.5255418G>T	ENSP00000369654:p.Gln40Lys						p.Q40K	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	313	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	40					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.118C>A	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275003	0.59649	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.92699	-2.9;-3.09;-2.9	4.45	1.2	0.21068	Globin-like (1);Globin, structural domain (1);	0.222160	0.47852	D	0.000210	D	0.88607	0.6482	N	0.25031	0.7	0.48452	D	0.999651	P	0.50272	0.933	P	0.52514	0.701	D	0.87050	0.2146	10	0.87932	D	0	-3.6858	9.6497	0.39890	0.0:0.1335:0.5924:0.2741	.	40	P02042	HBD_HUMAN	K	40	ENSP00000292901:Q40K;ENSP00000369654:Q40K;ENSP00000393810:Q40K	ENSP00000292901:Q40K	Q	-	1	0	HBD	5211994	1.000000	0.71417	0.936000	0.37596	0.846000	0.48090	1.749000	0.38319	0.574000	0.29417	0.585000	0.79938	CAG		PASS	0.512	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		44	105	44	105	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10483250	10483250	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:10483250G>T	ENST00000396554.3	+	2	552	c.211G>T	c.(211-213)Gag>Tag	p.E71*	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	62					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.E71*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCTGCAGAAGGAGCTGGCAGA	0.562																																						uc001mio.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(184-186)GAG>TAG		adenosine monophosphate deaminase 3 isoform 1B							57.0	57.0	57.0					11																	10483250		2201	4294	6495	SO:0001587	stop_gained	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10483250G>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.211G>T	11.37:g.10483250G>T	ENSP00000379802:p.Glu71*					AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Nonsense_Mutation_p.E71*|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Nonsense_Mutation_p.E62*|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Nonsense_Mutation_p.E69*|AMPD3_uc009yfy.2_Nonsense_Mutation_p.E62*	p.E62*	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	2	519	+			62					A0AUX0|B7Z2S2|B7Z763|B7Z877	Nonsense_Mutation	SNP	ENST00000396554.3	37	c.184G>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	39	7.568479	0.98365	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.6196	19.9756	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	X	62;71;62;62;69;62	.	ENSP00000379801:E62X	E	+	1	0	AMPD3	10439826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.793000	0.96121	0.563000	0.77884	GAG		PASS	0.562	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		14	35	14	35	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26568986	26568986	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:26568986G>C	ENST00000256737.3	+	12	2030	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.G247A|ANO3_ENST00000525139.1_Missense_Mutation_p.G377A|ANO3_ENST00000537978.1_Missense_Mutation_p.G377A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	393					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.G393A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAGAAGATTGGACTATACTTT	0.373																																						uc001mqt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1177-1179)GGA>GCA		transmembrane protein 16C							389.0	357.0	368.0					11																	26568986		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26568986G>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1178G>C	11.37:g.26568986G>C	ENSP00000256737:p.Gly393Ala					ANO3_uc010rdr.1_Missense_Mutation_p.G377A|ANO3_uc010rds.1_Missense_Mutation_p.G232A|ANO3_uc010rdt.1_Missense_Mutation_p.G247A	p.G393A	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			12	1323	+			393			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1178G>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363238	0.82353	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	N	0.17901	0.54	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.81914	0.995;0.988	T	0.51803	-0.8659	10	0.15066	T	0.55	.	19.5765	0.95446	0.0:0.0:1.0:0.0	.	295;393	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	A	377;377;393;295;247	ENSP00000440737:G377A;ENSP00000432576:G377A;ENSP00000256737:G393A;ENSP00000432394:G247A	ENSP00000256737:G393A	G	+	2	0	ANO3	26525562	1.000000	0.71417	0.951000	0.38953	0.966000	0.64601	9.785000	0.99042	2.617000	0.88574	0.585000	0.79938	GGA		PASS	0.373	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		12	527	12	527	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735361	55735361	+	Silent	SNP	T	T	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:55735361T>A	ENST00000312345.2	-	1	629	c.579A>T	c.(577-579)gtA>gtT	p.V193V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V193V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACACCACCGCTACTACATGGA	0.393																																						uc010rit.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(577-579)GTA>GTT		olfactory receptor, family 10, subfamily AG,							87.0	86.0	86.0					11																	55735361		2201	4296	6497	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735361T>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.579A>T	11.37:g.55735361T>A							p.V193V	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	579	-	Esophageal squamous(21;0.0137)		193			Helical; Name=5; (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.579A>T	CCDS31514.1																																																																																				PASS	0.393	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		34	96	34	96	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57176681	57176681	+	Silent	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:57176681G>T	ENST00000395123.2	-	13	1642	c.1338C>A	c.(1336-1338)ctC>ctA	p.L446L	SLC43A3_ENST00000533524.1_Silent_p.L459L|SLC43A3_ENST00000529554.1_Silent_p.L446L|RP11-872D17.8_ENST00000529411.1_Silent_p.L90L|SLC43A3_ENST00000395124.1_Silent_p.L446L|SLC43A3_ENST00000352187.1_Silent_p.L446L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	446					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.L446L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AGCCTTTGATGAGGGTGAAGA	0.572																																						uc001nkg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1336-1338)CTC>CTA		solute carrier family 43, member 3							136.0	129.0	132.0					11																	57176681		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57176681G>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1338C>A	11.37:g.57176681G>T						PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Silent_p.L446L|SLC43A3_uc010rjr.1_Silent_p.L459L|SLC43A3_uc009yme.2_Silent_p.L446L|SLC43A3_uc001nki.2_Silent_p.L446L	p.L446L	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			13	1748	-			446			Helical; (Potential).		B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1338C>A	CCDS7956.1																																																																																				PASS	0.572	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		7	241	7	241	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65268285	65268285	+	lincRNA	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:65268285G>T	ENST00000534336.1	+	0	3053				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACTTACTTATGGTAACCTTTT	0.443																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							48.0	50.0	49.0					11																	65268285		874	1988	2862			378938							g.chr11:65268285G>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268285G>T						uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.3053G>T																																																																																					PASS	0.443	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		4	96	4	96	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92715227	92715227	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:92715227G>A	ENST00000257068.2	+	2	844	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	280					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.E280K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CAACCCCCAAGAAATGGCTCC	0.507																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(838-840)GAA>AAA		melatonin receptor 1B	Ramelteon(DB00980)						158.0	152.0	154.0					11																	92715227		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715227G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.838G>A	11.37:g.92715227G>A	ENSP00000257068:p.Glu280Lys						p.E280K	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	941	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	280			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.838G>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202924	0.01581	.	.	ENSG00000134640	ENST00000257068	T	0.71817	-0.6	4.0	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.730573	0.13433	N	0.388257	T	0.46814	0.1412	N	0.11870	0.19	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.22208	-1.0223	10	0.06236	T	0.91	0.1374	10.3846	0.44132	0.0:0.1464:0.7015:0.1521	.	280	P49286	MTR1B_HUMAN	K	280	ENSP00000257068:E280K	ENSP00000257068:E280K	E	+	1	0	MTNR1B	92354875	0.000000	0.05858	0.028000	0.17463	0.118000	0.20060	0.643000	0.24750	0.424000	0.26061	-0.448000	0.05591	GAA		PASS	0.507	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			22	390	22	390	---	---	---	---
ALG9	79796	broad.mit.edu	37	11	111724408	111724408	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:111724408G>C	ENST00000531154.1	-	7	712	c.240C>G	c.(238-240)ttC>ttG	p.F80L	ALG9_ENST00000398006.2_Missense_Mutation_p.F80L|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	251					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.F483L(1)|p.F80L(1)|p.F484L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		ACCAATGAAAGAAACTCTTCC	0.373																																						uc001pmb.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(751-753)TTC>TTG		asparagine-linked glycosylation 9 protein							117.0	111.0	113.0					11																	111724408		1841	4089	5930	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111724408G>C		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.240C>G	11.37:g.111724408G>C	ENSP00000435517:p.Phe80Leu					ALG9_uc001ply.2_Missense_Mutation_p.F80L|ALG9_uc001plz.2_Missense_Mutation_p.F80L|ALG9_uc010rwm.1_Missense_Mutation_p.F251L|ALG9_uc010rwn.1_Missense_Mutation_p.F205L|ALG9_uc010rwo.1_Missense_Mutation_p.F79L|ALG9_uc009yyh.1_Missense_Mutation_p.F146L	p.F251L	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	8	852	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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)	251			Helical; (Potential).		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	c.753C>G	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271849	0.59649	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.68181	-0.31;-0.31	5.87	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	L	0.58925	1.835	0.58432	D	0.99999	P;D;D;D	0.76494	0.91;0.958;0.999;0.972	P;P;D;P	0.83275	0.554;0.693;0.996;0.721	T	0.68239	-0.5461	10	0.10902	T	0.67	-19.68	10.3592	0.43982	0.3239:0.0:0.6761:0.0	.	80;251;484;251	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	L	80;80;484	ENSP00000435517:F80L;ENSP00000381090:F80L	ENSP00000381090:F80L	F	-	3	2	ALG9	111229618	1.000000	0.71417	0.742000	0.31022	0.987000	0.75469	1.520000	0.35899	0.469000	0.27268	0.655000	0.94253	TTC		PASS	0.373	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		5	223	5	223	---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128360395	128360395	+	Silent	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:128360395G>A	ENST00000319397.6	-	2	468	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ETS1_ENST00000531611.1_Silent_p.F53F|ETS1_ENST00000526145.2_Silent_p.F53F|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Silent_p.F53F|ETS1_ENST00000392668.4_Silent_p.F97F	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	53	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F53F(1)|p.F97F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGAAACCACTGAAAGTAGCTT	0.408																																						uc010sbs.1																			2	Substitution - coding silent(2)		lung(2)	lung(4)|central_nervous_system(1)|pleura(1)	6						c.(157-159)TTC>TTT		v-ets erythroblastosis virus E26 oncogene							140.0	129.0	133.0					11																	128360395		2201	4297	6498	SO:0001819	synonymous_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360395G>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.159C>T	11.37:g.128360395G>A						ETS1_uc001qej.2_Silent_p.F97F|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.F53F	p.F53F	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	2	475	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	53			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	ENST00000319397.6	37	c.159C>T	CCDS8475.1																																																																																				PASS	0.408	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		12	212	12	212	---	---	---	---
BARX2	8538	broad.mit.edu	37	11	129321248	129321248	+	Missense_Mutation	SNP	C	C	A	rs146199848	byFrequency	TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:129321248C>A	ENST00000281437.4	+	4	887	c.791C>A	c.(790-792)cCg>cAg	p.P264Q	BARX2_ENST00000526127.1_Missense_Mutation_p.P119Q|BARX2_ENST00000531946.1_Missense_Mutation_p.P142Q	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	264					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.P264Q(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCACCAGACCCGCCCCAGGAG	0.567																																						uc001qfc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(790-792)CCG>CAG		BarH-like homeobox 2							55.0	59.0	57.0					11																	129321248		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129321248C>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.791C>A	11.37:g.129321248C>A	ENSP00000281437:p.Pro264Gln						p.P264Q	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	841	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	264					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.791C>A	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	8.589	0.884032	0.17467	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.90197	-2.63;-2.22;-2.17	5.44	3.16	0.36331	.	0.615351	0.17823	N	0.160815	T	0.69522	0.3120	N	0.01168	-0.975	0.28939	N	0.891121	B	0.02656	0.0	B	0.01281	0.0	T	0.60924	-0.7166	10	0.15066	T	0.55	.	5.0103	0.14310	0.704:0.2002:0.0958:0.0	.	264	Q9UMQ3	BARX2_HUMAN	Q	264;119;142	ENSP00000281437:P264Q;ENSP00000451113:P119Q;ENSP00000450418:P142Q	ENSP00000281437:P264Q	P	+	2	0	BARX2	128826458	0.992000	0.36948	0.999000	0.59377	0.850000	0.48378	2.529000	0.45632	0.905000	0.36596	-0.262000	0.10625	CCG		PASS	0.567	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		32	80	32	80	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130286846	130286846	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr11:130286846G>A	ENST00000257359.6	-	3	1791	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	362	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A391V(1)|p.A362V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TAGTTCATGGGCCAGGGTGTG	0.557																																						uc001qgg.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1084-1086)GCC>GTC		ADAM metallopeptidase with thrombospondin type 1							133.0	142.0	139.0					11																	130286846		2035	4181	6216	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130286846G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1085C>T	11.37:g.130286846G>A	ENSP00000257359:p.Ala362Val						p.A362V	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	3	1443	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	362			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1085C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193946	0.94960	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.92149	-2.98	4.66	4.66	0.58398	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.97454	1.0030	10	0.87932	D	0	.	17.91	0.88931	0.0:0.0:1.0:0.0	.	362	Q9UP79	ATS8_HUMAN	V	362;391	ENSP00000257359:A362V	ENSP00000257359:A362V	A	-	2	0	ADAMTS8	129792056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.858000	0.99539	2.281000	0.76405	0.655000	0.94253	GCC		PASS	0.557	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		78	281	78	281	---	---	---	---
CLEC4A	50856	broad.mit.edu	37	12	8290778	8290778	+	Silent	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr12:8290778C>T	ENST00000229332.5	+	6	856	c.609C>T	c.(607-609)tgC>tgT	p.C203C	CLEC4A_ENST00000352620.3_Silent_p.C170C|CLEC4A_ENST00000345999.3_Silent_p.C131C|CLEC4A_ENST00000360500.3_Silent_p.C164C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	203	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.C203C(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATGAGCGCTGCGTTGTGCTAA	0.443																																						uc001qtz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(607-609)TGC>TGT		C-type lectin domain family 4, member A isoform							143.0	123.0	130.0					12																	8290778		2203	4300	6503	SO:0001819	synonymous_variant	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8290778C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.609C>T	12.37:g.8290778C>T						CLEC4A_uc009zga.1_Silent_p.C164C|CLEC4A_uc001qub.1_Silent_p.C170C|CLEC4A_uc001quc.1_Silent_p.C131C|CLEC4A_uc009zgb.1_3'UTR	p.C203C	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	6	856	+			203			Extracellular (Potential).|C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Silent	SNP	ENST00000229332.5	37	c.609C>T	CCDS8590.1																																																																																				PASS	0.443	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		11	175	11	175	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19501339	19501339	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr12:19501339G>A	ENST00000299275.6	+	19	2413	c.2407G>A	c.(2407-2409)Gat>Aat	p.D803N	PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D785N|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.D861N|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D866N|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D792N|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D969N|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D861N|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D561N	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	803					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.D803N(2)|p.D964N(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAAGGGTCCAGATTATAGACT	0.333																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			4	Substitution - Missense(4)		haematopoietic_and_lymphoid_tissue(2)|lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2407-2409)GAT>AAT		pleckstrin homology domain containing, family A							94.0	96.0	95.0					12																	19501339		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501339G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2407G>A	12.37:g.19501339G>A	ENSP00000299275:p.Asp803Asn					PLEKHA5_uc010sie.1_Missense_Mutation_p.D964N|PLEKHA5_uc001rea.2_Missense_Mutation_p.D861N|PLEKHA5_uc009zin.2_Missense_Mutation_p.D561N|PLEKHA5_uc010sif.1_Missense_Mutation_p.D792N|PLEKHA5_uc010sig.1_Missense_Mutation_p.D785N|PLEKHA5_uc010sih.1_Missense_Mutation_p.D758N|PLEKHA5_uc001rec.1_Missense_Mutation_p.D612N|PLEKHA5_uc009zio.2_Intron	p.D803N	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			19	2493	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		803					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2407G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627573	0.87560	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	D;T;D;T;T;T;D;D;D	0.93189	-3.18;2.27;-3.18;2.33;1.94;2.27;-3.18;-3.18;-3.18	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.95831	0.8643	M	0.63428	1.95	0.49299	D	0.999777	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.986;0.999;0.998;0.989;0.998;0.998;0.999	D	0.94058	0.7324	10	0.22706	T	0.39	-25.6994	18.8652	0.92289	0.0:0.0:1.0:0.0	.	866;785;792;964;969;803;861	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	N	866;861;965;969;803;561;861;792;785;758	ENSP00000325155:D866N;ENSP00000347560:D861N;ENSP00000404296:D969N;ENSP00000299275:D803N;ENSP00000440611:D561N;ENSP00000439673:D861N;ENSP00000400411:D792N;ENSP00000439837:D785N;ENSP00000440371:D758N	ENSP00000299275:D803N	D	+	1	0	PLEKHA5	19392606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.173000	0.89680	2.489000	0.83994	0.563000	0.77884	GAT		PASS	0.333	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		4	179	4	179	---	---	---	---
TSPAN11	441631	broad.mit.edu	37	12	31135496	31135496	+	Silent	SNP	C	C	T	rs138636959		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr12:31135496C>T	ENST00000261177.9	+	6	545	c.486C>T	c.(484-486)gcC>gcT	p.A162A	TSPAN11_ENST00000535215.1_Silent_p.A91A|TSPAN11_ENST00000546076.1_Silent_p.A162A|TSPAN11_ENST00000544427.1_Silent_p.A152A	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	162						integral component of membrane (GO:0016021)		p.A162A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAGCTCAGCCGACTGGCAGC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16550	0.0		0.0	False		,,,				2504	0.0					uc010sju.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(484-486)GCC>GCT		tetraspanin 11		C		5,4401	8.1+/-20.4	0,5,2198	35.0	37.0	36.0		486	-3.8	0.3	12	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous	TSPAN11	NM_001080509.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		162/254	31135496	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	441631					integral to membrane		g.chr12:31135496C>T		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.486C>T	12.37:g.31135496C>T						TSPAN11_uc001rjp.2_Silent_p.A162A|TSPAN11_uc010sjv.1_Silent_p.A152A	p.A162A	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN			6	866	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		162					A1L158|B2RUX6	Silent	SNP	ENST00000261177.9	37	c.486C>T	CCDS31765.1																																																																																				PASS	0.657	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		4	46	4	46	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39756974	39756974	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr12:39756974G>C	ENST00000361418.5	-	7	960	c.945C>G	c.(943-945)agC>agG	p.S315R	KIF21A_ENST00000361961.3_Missense_Mutation_p.S315R|KIF21A_ENST00000395670.3_Missense_Mutation_p.S315R|KIF21A_ENST00000541463.2_Missense_Mutation_p.S315R|KIF21A_ENST00000544797.2_Missense_Mutation_p.S315R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	315	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			S -> C (in Ref. 2; CAJ45483). {ECO:0000305}.	ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S315R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGGCCCTCTTGCTCTTGTCTC	0.388																																						uc001rly.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(943-945)AGC>AGG		kinesin family member 21A							151.0	148.0	149.0					12																	39756974		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39756974G>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.945C>G	12.37:g.39756974G>C	ENSP00000354878:p.Ser315Arg					KIF21A_uc001rlx.2_Missense_Mutation_p.S315R|KIF21A_uc001rlz.2_Missense_Mutation_p.S315R|KIF21A_uc010skl.1_Missense_Mutation_p.S315R|KIF21A_uc001rma.1_Missense_Mutation_p.S323R	p.S315R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			7	1091	-		Lung NSC(34;0.179)|all_lung(34;0.213)	315					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.945C>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822542	0.71028	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	4.98	2.87	0.33458	Kinesin, motor domain (3);	0.000000	0.64402	D	0.000007	T	0.69324	0.3098	L	0.31065	0.9	0.48087	D	0.999586	B;D;B;D;B	0.89917	0.014;0.998;0.202;1.0;0.097	B;D;B;D;B	0.81914	0.017;0.993;0.078;0.995;0.101	T	0.66988	-0.5784	10	0.41790	T	0.15	.	4.0528	0.09803	0.5375:0.0:0.4624:0.0	.	315;315;315;315;315	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	R	315;315;315;315;315;315;138	ENSP00000354851:S315R;ENSP00000379029:S315R;ENSP00000445606:S315R;ENSP00000354878:S315R;ENSP00000438075:S315R;ENSP00000449700:S138R	ENSP00000344501:S315R	S	-	3	2	KIF21A	38043241	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.539000	0.45718	1.101000	0.41535	0.563000	0.77884	AGC		PASS	0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		75	200	75	200	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43824238	43824238	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr12:43824238C>T	ENST00000389420.3	-	23	3297	c.3298G>A	c.(3298-3300)Gat>Aat	p.D1100N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D1100N|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.D254N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1100	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D1100N(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATTTAACATCTCGCATCTGA	0.388																																						uc010skx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3298-3300)GAT>AAT		a disintegrin-like and metalloprotease with							150.0	126.0	134.0					12																	43824238		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43824238C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3298G>A	12.37:g.43824238C>T	ENSP00000374071:p.Asp1100Asn					ADAMTS20_uc001rno.1_Missense_Mutation_p.D254N|ADAMTS20_uc001rnp.1_Missense_Mutation_p.D254N	p.D1100N	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	23	3298	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1100			TSP type-1 6.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3298G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	c	11.96	1.793776	0.31685	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.3	5.3	0.74995	.	0.118494	0.37304	N	0.002160	T	0.28896	0.0717	N	0.05351	-0.065	0.29279	N	0.87016	B;P	0.35923	0.013;0.528	B;B	0.38880	0.029;0.284	T	0.13872	-1.0493	10	0.17369	T	0.5	.	13.1473	0.59470	0.0:0.9257:0.0:0.0743	.	1100;254	P59510;E9PBD5	ATS20_HUMAN;.	N	1100;266;254;1100;1100	ENSP00000374071:D1100N;ENSP00000447427:D266N;ENSP00000378911:D254N;ENSP00000448341:D1100N	ENSP00000374068:D1100N	D	-	1	0	ADAMTS20	42110505	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.535000	0.67173	2.869000	0.98440	0.556000	0.70494	GAT		PASS	0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		13	69	13	69	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56346885	56346885	+	Missense_Mutation	SNP	C	C	G	rs1395282		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr12:56346885C>G	ENST00000331886.5	+	22	2458	c.2004C>G	c.(2002-2004)atC>atG	p.I668M	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.I668M|DGKA_ENST00000551156.1_Missense_Mutation_p.I668M	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	668					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.I668M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGGCCAAATCTATACCAAGC	0.522																																						uc001sij.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2002-2004)ATC>ATG		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						115.0	112.0	113.0					12																	56346885		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56346885C>G	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2004C>G	12.37:g.56346885C>G	ENSP00000328405:p.Ile668Met					DGKA_uc001sik.2_Missense_Mutation_p.I668M|DGKA_uc001sil.2_Missense_Mutation_p.I668M|DGKA_uc001sim.2_Missense_Mutation_p.I668M|DGKA_uc001sin.2_Missense_Mutation_p.I668M|DGKA_uc009zof.2_Missense_Mutation_p.I314M|DGKA_uc001sio.2_Missense_Mutation_p.I410M	p.I668M	NM_001345	NP_001336	P23743	DGKA_HUMAN			22	2268	+			668					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.2004C>G	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641373	0.47153	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	T;T;T	0.45276	0.9;0.9;0.9	4.72	1.65	0.23941	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.74881	2.28	0.42558	D	0.993136	D	0.69078	0.997	D	0.74348	0.983	T	0.55792	-0.8085	10	0.87932	D	0	.	5.1288	0.14899	0.288:0.5466:0.0:0.1654	.	668	P23743	DGKA_HUMAN	M	668	ENSP00000328405:I668M;ENSP00000377703:I668M;ENSP00000450359:I668M	ENSP00000328405:I668M	I	+	3	3	DGKA	54633152	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	0.754000	0.26390	0.514000	0.28300	0.313000	0.20887	ATC		PASS	0.522	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			11	133	11	133	---	---	---	---
SLC7A7	9056	broad.mit.edu	37	14	23240354	23240354	+	IGR	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr14:23240354C>A	ENST00000397532.3	-	0	2447				OXA1L_ENST00000285848.5_Missense_Mutation_p.P416H|SLC7A7_ENST00000554061.1_5'Flank|OXA1L_ENST00000358043.5_Missense_Mutation_p.P340H|OXA1L_ENST00000412791.1_Missense_Mutation_p.P356H|OXA1L_ENST00000604262.1_Missense_Mutation_p.P356H			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.P416H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GACAAATTACCTCCACGGGAA	0.463																																						uc001wgn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1246-1248)CCT>CAT		oxidase (cytochrome c) assembly 1-like							89.0	83.0	85.0					14																	23240354		2203	4300	6503	SO:0001628	intergenic_variant	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23240354C>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240354C>A						OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.P416H|OXA1L_uc001wgp.2_Missense_Mutation_p.P340H|OXA1L_uc001wgq.2_Missense_Mutation_p.P120H	p.P416H	NM_005015	NP_005006	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	8	1247	+	all_cancers(95;8.44e-05)		356			Mitochondrial matrix (Potential).		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.1247C>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198855	0.38806	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.34667	1.35;1.45;1.37	5.71	0.184	0.15086	.	0.377666	0.33023	N	0.005368	T	0.45617	0.1351	M	0.72118	2.19	0.47905	D	0.999543	D;D;D	0.67145	0.996;0.969;0.991	P;P;P	0.53450	0.711;0.682;0.726	T	0.44314	-0.9336	10	0.87932	D	0	2.9698	10.0615	0.42277	0.0:0.6158:0.0:0.3842	.	356;356;416	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	H	416;356;340	ENSP00000285848:P416H;ENSP00000387601:P356H;ENSP00000350740:P340H	ENSP00000285848:P416H	P	+	2	0	OXA1L	22310194	0.252000	0.23972	0.017000	0.16124	0.100000	0.18952	0.200000	0.17257	-0.277000	0.09193	-0.208000	0.12717	CCT		PASS	0.463	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			4	194	4	194	---	---	---	---
HSPA2	3306	broad.mit.edu	37	14	65008837	65008837	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr14:65008837C>A	ENST00000394709.1	+	2	1346	c.1270C>A	c.(1270-1272)Ccc>Acc	p.P424T	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.P424T			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	424					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.P424T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CACCACGATCCCCACCAAGCA	0.587																																					Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1270-1272)CCC>ACC		heat shock 70kDa protein 2							78.0	69.0	72.0					14																	65008837		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008837C>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1270C>A	14.37:g.65008837C>A	ENSP00000378199:p.Pro424Thr					HSPA2_uc001xhk.3_Missense_Mutation_p.P424T	p.P424T	NM_021979	NP_068814	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	2	1346	+			424					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1270C>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218663	0.58560	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.45668	0.89;0.89	5.31	4.4	0.53042	.	0.000000	0.53938	U	0.000044	D	0.83982	0.5372	H	0.99998	5.525	0.52099	D	0.999945	D	0.89917	1.0	D	0.97110	1.0	D	0.92250	0.5808	10	0.87932	D	0	1.2852	15.2458	0.73504	0.1415:0.8585:0.0:0.0	.	424	P54652	HSP72_HUMAN	T	424;424;198	ENSP00000378199:P424T;ENSP00000247207:P424T	ENSP00000247207:P424T	P	+	1	0	HSPA2	64078590	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.815000	0.86186	1.209000	0.43321	0.558000	0.71614	CCC		PASS	0.587	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			37	80	37	80	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67746180	67746180	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr14:67746180G>A	ENST00000261681.4	+	3	954	c.293G>A	c.(292-294)gGa>gAa	p.G98E	MPP5_ENST00000556345.1_Missense_Mutation_p.G98E|MPP5_ENST00000555925.1_Missense_Mutation_p.G64E	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	98	Interaction with PARD6B. {ECO:0000250}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.G98E(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CCAAAGACCGGAATAGATAAC	0.378																																						uc001xjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)GGA>GAA		membrane protein, palmitoylated 5							65.0	69.0	68.0					14																	67746180		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67746180G>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.293G>A	14.37:g.67746180G>A	ENSP00000261681:p.Gly98Glu					MPP5_uc001xjd.2_Missense_Mutation_p.G64E|MPP5_uc001xjb.1_Missense_Mutation_p.G98E	p.G98E	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	3	759	+			98			Interaction with PARD6B (By similarity).		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.293G>A	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568672	0.86439	.	.	ENSG00000072415	ENST00000261681;ENST00000556345;ENST00000555925;ENST00000557783	T;T	0.11930	2.73;2.78	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.874;0.998	T	0.02625	-1.1132	10	0.87932	D	0	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	98;98	Q8N3R9;G3V2B0	MPP5_HUMAN;.	E	98;98;64;64	ENSP00000261681:G98E;ENSP00000451488:G64E	ENSP00000261681:G98E	G	+	2	0	MPP5	66815933	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.514000	0.90545	2.745000	0.94114	0.462000	0.41574	GGA		PASS	0.378	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		6	212	6	212	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925837	70925837	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr14:70925837G>T	ENST00000603540.1	+	2	1879	c.1621G>T	c.(1621-1623)Ggt>Tgt	p.G541C	ADAM21_ENST00000267499.3_Missense_Mutation_p.G541C|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	541	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G541C(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAACCGTTTTGGTCACTGTGG	0.378																																						uc001xmd.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1621-1623)GGT>TGT		ADAM metallopeptidase domain 21 preproprotein							28.0	48.0	42.0					14																	70925837		2124	4267	6391	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925837G>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1621G>T	14.37:g.70925837G>T	ENSP00000474385:p.Gly541Cys						p.G541C	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1621	+			541			Cys-rich.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1621G>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637175	0.47049	.	.	ENSG00000139985	ENST00000267499	T	0.30981	1.51	4.36	4.36	0.52297	ADAM, cysteine-rich (2);	0.000000	0.41605	U	0.000849	T	0.70500	0.3231	H	0.99143	4.445	0.35336	D	0.786044	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.87932	D	0	.	11.0277	0.47755	0.0863:0.0:0.9137:0.0	.	541	Q9UKJ8	ADA21_HUMAN	C	541	ENSP00000267499:G541C	ENSP00000267499:G541C	G	+	1	0	ADAM21	69995590	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	5.611000	0.67674	2.421000	0.82119	0.467000	0.42956	GGT		PASS	0.378	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			8	262	8	262	---	---	---	---
ESRRB	2103	broad.mit.edu	37	14	76949083	76949083	+	Silent	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr14:76949083C>A	ENST00000509242.1	+	6	866	c.768C>A	c.(766-768)ggC>ggA	p.G256G	ESRRB_ENST00000261532.7_Silent_p.G256G|ESRRB_ENST00000380887.2_Silent_p.G256G|ESRRB_ENST00000556177.1_Silent_p.G256G	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	256					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G256G(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TCATCATTGGCTGGGCCAAGC	0.607																																						uc001xsq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(766-768)GGC>GGA		estrogen-related receptor beta							116.0	88.0	98.0					14																	76949083		2203	4300	6503	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76949083C>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.768C>A	14.37:g.76949083C>A						ESRRB_uc001xsr.2_Silent_p.G256G|ESRRB_uc001xso.2_RNA	p.G256G	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	5	835	+			256					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.768C>A	CCDS9850.2																																																																																				PASS	0.607	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			6	162	6	162	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88417033	88417033	+	Silent	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr14:88417033T>C	ENST00000261304.2	-	11	1327	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	GALC_ENST00000544807.2_Silent_p.Q351Q|GALC_ENST00000393569.2_Silent_p.Q381Q|GALC_ENST00000393568.4_Silent_p.Q384Q	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	407					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.Q407Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTGGCAAATTGTTGTGACA	0.289																																						uc001xvt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1219-1221)CAA>CAG		galactosylceramidase isoform a precursor							74.0	69.0	70.0					14																	88417033		1813	4079	5892	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88417033T>C	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1221A>G	14.37:g.88417033T>C						GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.Q381Q|GALC_uc010tvy.1_Silent_p.Q384Q|GALC_uc010tvz.1_Silent_p.Q351Q	p.Q407Q	NM_000153	NP_000144	P54803	GALC_HUMAN			11	1620	-			407					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.1221A>G	CCDS9878.2																																																																																				PASS	0.289	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			17	67	17	67	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28518105	28518105	+	Silent	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:28518105G>T	ENST00000261609.7	-	8	954	c.846C>A	c.(844-846)ccC>ccA	p.P282P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P282P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTCCTGCAGGGGGATGCTTC	0.602																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(844-846)CCC>CCA		hect domain and RLD 2							54.0	52.0	52.0					15																	28518105		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518105G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.846C>A	15.37:g.28518105G>T						HERC2_uc001zbl.1_5'UTR	p.P282P	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	952	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	282						Silent	SNP	ENST00000261609.7	37	c.846C>A	CCDS10021.1																																																																																				PASS	0.602	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	115	15	115	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33923440	33923440	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:33923440C>A	ENST00000389232.4	+	23	2883	c.2813C>A	c.(2812-2814)gCt>gAt	p.A938D	RYR3_ENST00000415757.3_Missense_Mutation_p.A938D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	938	4 X approximate repeats.				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.A938D(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)		TGCCACATTGCTCATGTTAAC	0.448																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2812-2814)GCT>GAT		ryanodine receptor 3							83.0	81.0	82.0					15																	33923440		1902	4122	6024	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33923440C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2813C>A	15.37:g.33923440C>A	ENSP00000373884:p.Ala938Asp					RYR3_uc010bar.2_Missense_Mutation_p.A938D	p.A938D	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)	23	2883	+		all_lung(180;7.18e-09)	938			4 X approximate repeats.|1.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2813C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101772	0.37048	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91237	-2.81;-2.81	5.09	4.09	0.47781	Ryanodine receptor Ryr (1);	0.296236	0.31246	N	0.007992	T	0.76550	0.4003	N	0.05078	-0.115	0.35805	D	0.823402	P;P	0.47484	0.731;0.896	B;B	0.42827	0.259;0.399	T	0.76534	-0.2924	10	0.23891	T	0.37	.	4.741	0.13012	0.0:0.7458:0.0:0.2542	.	938;938	Q15413-2;Q15413	.;RYR3_HUMAN	D	938	ENSP00000373884:A938D;ENSP00000399610:A938D	ENSP00000354735:A938D	A	+	2	0	RYR3	31710732	0.980000	0.34600	0.975000	0.42487	0.949000	0.60115	0.589000	0.23939	2.641000	0.89580	0.563000	0.77884	GCT		PASS	0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	20	3	20	---	---	---	---
ZNF280D	54816	broad.mit.edu	37	15	56981653	56981653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:56981653G>T	ENST00000267807.7	-	8	731	c.515C>A	c.(514-516)tCa>tAa	p.S172*	ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.S159*|ZNF280D_ENST00000559237.1_Nonsense_Mutation_p.S159*	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	172					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.S172*(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATAAAAATGAACTTTCACT	0.279																																						uc002adu.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(514-516)TCA>TAA		suppressor of hairy wing homolog 4 isoform 1							44.0	45.0	44.0					15																	56981653		2190	4292	6482	SO:0001587	stop_gained	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56981653G>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.515C>A	15.37:g.56981653G>T	ENSP00000267807:p.Ser172*					ZNF280D_uc002adv.2_Nonsense_Mutation_p.S159*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.S172*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.S200*|ZNF280D_uc010bfr.1_RNA	p.S172*	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	8	732	-			172					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Nonsense_Mutation	SNP	ENST00000267807.7	37	c.515C>A	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999428	0.74818	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435	.	.	.	4.84	2.95	0.34219	.	2.343030	0.02327	N	0.073541	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.1796	9.8183	0.40867	0.1706:0.0:0.8294:0.0	.	.	.	.	X	172;159;8	.	ENSP00000260435:S8X	S	-	2	0	ZNF280D	54768945	0.502000	0.26107	0.989000	0.46669	0.584000	0.36387	0.612000	0.24283	0.546000	0.28920	0.557000	0.71058	TCA		PASS	0.279	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		8	47	8	47	---	---	---	---
TBC1D21	161514	broad.mit.edu	37	15	74176528	74176528	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:74176528G>C	ENST00000300504.2	+	4	392	c.309G>C	c.(307-309)aaG>aaC	p.K103N	TBC1D21_ENST00000535547.2_Missense_Mutation_p.K67N|TBC1D21_ENST00000562056.1_Missense_Mutation_p.K103N	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	103	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.K103N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGTATGAGAAGATTCAGCCCC	0.507																																						uc002avz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(307-309)AAG>AAC		TBC1 domain family, member 21							141.0	134.0	136.0					15																	74176528		2198	4297	6495	SO:0001583	missense	161514					intracellular	Rab GTPase activator activity	g.chr15:74176528G>C	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.309G>C	15.37:g.74176528G>C	ENSP00000300504:p.Lys103Asn					TBC1D21_uc010ulc.1_Missense_Mutation_p.K67N	p.K103N	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN			4	392	+			103			Rab-GAP TBC.		B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	c.309G>C	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256311	0.59321	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.11495	2.77;2.77	5.44	2.04	0.26737	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000012	T	0.16085	0.0387	N	0.22421	0.69	0.34805	D	0.737093	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.989	T	0.15407	-1.0438	10	0.62326	D	0.03	.	7.7289	0.28775	0.3184:0.0:0.6816:0.0	.	67;103	B9A6M2;Q8IYX1	.;TBC21_HUMAN	N	103;67	ENSP00000300504:K103N;ENSP00000439325:K67N	ENSP00000300504:K103N	K	+	3	2	TBC1D21	71963581	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	1.748000	0.38308	0.654000	0.30846	-0.126000	0.14955	AAG		PASS	0.507	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		61	157	61	157	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85405926	85405926	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:85405926G>A	ENST00000258888.5	+	10	4963	c.4796G>A	c.(4795-4797)tGc>tAc	p.C1599Y		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1599	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C1599Y(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GACTCTGGCTGCTGGGGGGAC	0.582																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4795-4797)TGC>TAC		alpha-kinase 3							59.0	59.0	59.0					15																	85405926		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85405926G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4796G>A	15.37:g.85405926G>A	ENSP00000258888:p.Cys1599Tyr					ALPK3_uc010upc.1_5'Flank	p.C1599Y	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	4963	+			1599			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4796G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608210	0.14002	.	.	ENSG00000136383	ENST00000258888	T	0.06449	3.3	4.97	4.97	0.65823	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.120866	0.56097	D	0.000023	T	0.02649	0.0080	N	0.01505	-0.83	0.35770	D	0.820834	B	0.16802	0.019	B	0.17722	0.019	T	0.36939	-0.9727	10	0.56958	D	0.05	-17.7444	9.1896	0.37191	0.0959:0.0:0.9041:0.0	.	1599	Q96L96	ALPK3_HUMAN	Y	1599	ENSP00000258888:C1599Y	ENSP00000258888:C1599Y	C	+	2	0	ALPK3	83206930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.345000	0.44018	2.578000	0.87016	0.655000	0.94253	TGC		PASS	0.582	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		48	104	48	104	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85406841	85406841	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:85406841G>T	ENST00000258888.5	+	11	5242	c.5075G>T	c.(5074-5076)cGg>cTg	p.R1692L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1692	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1692L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGAAGCCCGGGCCGCGCCT	0.552																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(5074-5076)CGG>CTG		alpha-kinase 3							57.0	49.0	52.0					15																	85406841		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85406841G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5075G>T	15.37:g.85406841G>T	ENSP00000258888:p.Arg1692Leu					ALPK3_uc010upc.1_5'Flank	p.R1692L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		11	5242	+			1692			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.5075G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624987	0.66901	.	.	ENSG00000136383	ENST00000258888	T	0.14516	2.5	5.8	4.86	0.63082	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.068551	0.56097	D	0.000024	T	0.28433	0.0703	L	0.55481	1.735	0.46725	D	0.999177	D	0.57571	0.98	P	0.61477	0.889	T	0.01352	-1.1377	10	0.72032	D	0.01	-21.319	11.8677	0.52503	0.0878:0.0:0.9122:0.0	.	1692	Q96L96	ALPK3_HUMAN	L	1692	ENSP00000258888:R1692L	ENSP00000258888:R1692L	R	+	2	0	ALPK3	83207845	1.000000	0.71417	0.999000	0.59377	0.070000	0.16714	4.908000	0.63307	1.385000	0.46445	0.655000	0.94253	CGG		PASS	0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		15	55	15	55	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93498730	93498730	+	Silent	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:93498730C>G	ENST00000394196.4	+	15	2865	c.1797C>G	c.(1795-1797)ctC>ctG	p.L599L	CHD2_ENST00000557381.1_Silent_p.L599L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	599	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.L599L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATGAGATCCTCTTGAAAGATA	0.343																																						uc002bsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1795-1797)CTC>CTG		chromodomain helicase DNA binding protein 2							53.0	48.0	50.0					15																	93498730		2196	4295	6491	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93498730C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1797C>G	15.37:g.93498730C>G						CHD2_uc002bso.1_Silent_p.L599L	p.L599L	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		15	2372	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		599			Helicase ATP-binding.		C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.1797C>G	CCDS10374.2																																																																																				PASS	0.343	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	48	3	48	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101592036	101592036	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr15:101592036A>T	ENST00000388948.3	+	24	3919	c.3560A>T	c.(3559-3561)tAc>tTc	p.Y1187F	LRRK1_ENST00000284395.5_Missense_Mutation_p.Y1184F|RP11-505E24.2_ENST00000559857.1_RNA|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.Y1199F(1)|p.Y1187F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATGTGCAGTACTTCGACATG	0.642																																						uc002bwr.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(3559-3561)TAC>TTC		leucine-rich repeat kinase 1							72.0	83.0	79.0					15																	101592036		2137	4245	6382	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101592036A>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3560A>T	15.37:g.101592036A>T	ENSP00000373600:p.Tyr1187Phe					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_5'Flank	p.Y1187F	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		24	3879	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1187						Missense_Mutation	SNP	ENST00000388948.3	37	c.3560A>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476770	0.63849	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73469	-0.72;-0.75	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.74329	0.3702	L	0.29908	0.895	0.45403	D	0.998381	D	0.67145	0.996	P	0.60415	0.874	T	0.69412	-0.5152	10	0.10902	T	0.67	.	15.4463	0.75232	1.0:0.0:0.0:0.0	.	1187	Q38SD2	LRRK1_HUMAN	F	1187;1184	ENSP00000373600:Y1187F;ENSP00000284395:Y1184F	ENSP00000284395:Y1184F	Y	+	2	0	LRRK1	99409559	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.933000	0.75874	2.055000	0.61198	0.533000	0.62120	TAC		PASS	0.642	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		23	64	23	64	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18844332	18844332	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:18844332G>C	ENST00000446231.2	-	51	9134	c.8722C>G	c.(8722-8724)Cag>Gag	p.Q2908E	SMG1_ENST00000389467.3_Missense_Mutation_p.Q2908E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2908					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q2904E(1)|p.Q2908E(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAGTAGGCCTGAAGAGATTCC	0.488																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(8722-8724)CAG>GAG		PI-3-kinase-related kinase SMG-1							258.0	247.0	250.0					16																	18844332		1936	4142	6078	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18844332G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8722C>G	16.37:g.18844332G>C	ENSP00000402515:p.Gln2908Glu					SMG1_uc010bwb.2_Missense_Mutation_p.Q2768E|SMG1_uc010bwa.2_Missense_Mutation_p.Q1639E	p.Q2908E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			51	9085	-			2908					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.8722C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194801	0.22037	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.00922	5.54;5.54	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.00666	0.0022	N	0.04880	-0.145	0.37022	D	0.896279	B	0.32620	0.378	B	0.26770	0.073	T	0.59573	-0.7429	10	0.02654	T	1	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	2908	Q96Q15	SMG1_HUMAN	E	2908	ENSP00000402515:Q2908E;ENSP00000374118:Q2908E	ENSP00000374118:Q2908E	Q	-	1	0	SMG1	18751833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.146000	0.77373	2.799000	0.96334	0.650000	0.86243	CAG		PASS	0.488	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	537	7	537	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18870975	18870975	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:18870975G>C	ENST00000446231.2	-	27	4268	c.3856C>G	c.(3856-3858)Cag>Gag	p.Q1286E	SMG1_ENST00000389467.3_Missense_Mutation_p.Q1286E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1286	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q1286E(1)|p.Q1282E(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATGGATTTCTGAAGTTCCCTC	0.348																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(3856-3858)CAG>GAG		PI-3-kinase-related kinase SMG-1							66.0	61.0	62.0					16																	18870975		1825	4087	5912	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18870975G>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3856C>G	16.37:g.18870975G>C	ENSP00000402515:p.Gln1286Glu					SMG1_uc010bwb.2_Missense_Mutation_p.Q1146E|SMG1_uc010bwa.2_Missense_Mutation_p.Q17E	p.Q1286E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			27	4219	-			1286			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.3856C>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.471519	0.43942	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.00995	5.46;5.46	4.47	4.47	0.54385	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.49916	D	0.000134	T	0.00845	0.0028	N	0.22421	0.69	0.46078	D	0.99885	P	0.42409	0.779	B	0.35607	0.206	T	0.74699	-0.3577	10	0.08599	T	0.76	.	17.151	0.86778	0.0:0.0:1.0:0.0	.	1286	Q96Q15	SMG1_HUMAN	E	1286	ENSP00000402515:Q1286E;ENSP00000374118:Q1286E	ENSP00000374118:Q1286E	Q	-	1	0	SMG1	18778476	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.064000	0.93933	2.042000	0.60477	0.305000	0.20034	CAG		PASS	0.348	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		8	84	8	84	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20441054	20441054	+	Silent	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:20441054T>C	ENST00000331849.4	+	8	1203	c.1056T>C	c.(1054-1056)ccT>ccC	p.P352P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	352			P -> R (in dbSNP:rs8062344). {ECO:0000269|PubMed:12654705}.		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.P352P(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCCTCAACCCTGACGTGAGGG	0.562																																						uc002dhe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1054-1056)CCT>CCC		acyl-CoA synthetase medium-chain family member 5							91.0	93.0	92.0					16																	20441054		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20441054T>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1056T>C	16.37:g.20441054T>C							p.P352P	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			8	1203	+			352					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.1056T>C	CCDS10585.1																																																																																				PASS	0.562	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		43	120	43	120	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52497890	52497890	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:52497890G>C	ENST00000219746.9	-	3	648	c.364C>G	c.(364-366)Ctc>Gtc	p.L122V	TOX3_ENST00000407228.3_Missense_Mutation_p.L117V	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	122					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.L122V(1)|p.L117V(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGTTCCACGAGATTTCTTGAG	0.438																																						uc002egw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(364-366)CTC>GTC		TOX high mobility group box family member 3							83.0	89.0	87.0					16																	52497890		1914	4130	6044	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52497890G>C	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.364C>G	16.37:g.52497890G>C	ENSP00000219746:p.Leu122Val					TOX3_uc010vgt.1_Missense_Mutation_p.L117V|TOX3_uc010vgu.1_Missense_Mutation_p.L122V	p.L122V	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			3	535	-			122					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.364C>G	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294020	0.40594	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.50548	0.74;0.74	5.9	5.9	0.94986	.	0.067775	0.64402	D	0.000010	T	0.42131	0.1189	L	0.34521	1.04	0.46954	D	0.999267	P;P	0.43431	0.807;0.807	B;B	0.39217	0.294;0.294	T	0.27088	-1.0084	10	0.42905	T	0.14	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	117;122	B4DRD0;O15405	.;TOX3_HUMAN	V	122;117	ENSP00000219746:L122V;ENSP00000385705:L117V	ENSP00000219746:L122V	L	-	1	0	TOX3	51055391	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.107000	0.64603	2.806000	0.96561	0.655000	0.94253	CTC		PASS	0.438	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		5	211	5	211	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70166087	70166087	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:70166087G>A	ENST00000288050.4	+	9	1838	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	PDPR_ENST00000568530.1_Missense_Mutation_p.R294Q|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.R194Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	294					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.R294Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATTTATATTCGGAACTGGCAG	0.473																																						uc002eyf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(880-882)CGG>CAG		pyruvate dehydrogenase phosphatase regulatory							44.0	45.0	45.0					16																	70166087		1817	4072	5889	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70166087G>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.881G>A	16.37:g.70166087G>A	ENSP00000288050:p.Arg294Gln					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.R194Q|PDPR_uc002eyg.1_Missense_Mutation_p.R22Q	p.R294Q	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	9	1838	+			294					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.881G>A	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690283	0.96793	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.58652	0.32;0.32	5.07	5.07	0.68467	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	D	0.88209	0.2889	10	0.87932	D	0	.	17.4186	0.87508	0.0:0.0:1.0:0.0	.	22;294	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	Q	294;194;22	ENSP00000288050:R294Q;ENSP00000381190:R194Q	ENSP00000205055:R22Q	R	+	2	0	PDPR	68723588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.810000	0.99221	2.353000	0.79882	0.585000	0.79938	CGG		PASS	0.473	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		6	112	6	112	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72166728	72166728	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:72166728C>T	ENST00000237353.10	-	10	1627	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PMFBP1_ENST00000355636.6_Missense_Mutation_p.A311T|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A456T	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	456						cytoplasm (GO:0005737)		p.A456T(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTGCACTCCGCCTCCTTGGAC	0.582																																						uc002fcc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1366-1368)GCG>ACG		polyamine modulated factor 1 binding protein 1							158.0	127.0	137.0					16																	72166728		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72166728C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1366G>A	16.37:g.72166728C>T	ENSP00000237353:p.Ala456Thr					PMFBP1_uc002fcd.2_Missense_Mutation_p.A456T|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A311T	p.A456T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			10	1538	-		Ovarian(137;0.179)	456			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1366G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	4.760	0.141256	0.09083	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.11930	2.74;2.74;2.73	1.73	-2.54	0.06307	.	2.368280	0.01808	N	0.033309	T	0.07279	0.0184	N	0.24115	0.695	0.09310	N	1	B;B;B	0.30281	0.275;0.0;0.275	B;B;B	0.24701	0.055;0.0;0.055	T	0.16837	-1.0389	10	0.14252	T	0.57	7.3302	2.1927	0.03903	0.0:0.2798:0.3219:0.3983	.	456;456;456	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	T	456;456;311	ENSP00000443817:A456T;ENSP00000237353:A456T;ENSP00000347854:A311T	ENSP00000237353:A456T	A	-	1	0	PMFBP1	70724229	0.001000	0.12720	0.001000	0.08648	0.285000	0.27093	0.441000	0.21611	-0.411000	0.07530	0.313000	0.20887	GCG		PASS	0.582	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		23	326	23	326	---	---	---	---
SDR42E1	93517	broad.mit.edu	37	16	82033204	82033204	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:82033204G>C	ENST00000328945.5	-	3	821	c.694C>G	c.(694-696)Cac>Gac	p.H232D	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	232					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)	p.H232D(1)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						GCCAGAATGTGAGCCTGCACC	0.532																																						uc002fgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)CAC>GAC		short chain dehydrogenase/reductase family 42E,							103.0	104.0	104.0					16																	82033204		1917	4118	6035	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033204G>C	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.694C>G	16.37:g.82033204G>C	ENSP00000332407:p.His232Asp						p.H232D	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	822	-			232					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.694C>G	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436883	0.83885	.	.	ENSG00000184860	ENST00000328945	D	0.87491	-2.26	5.58	5.58	0.84498	3-beta hydroxysteroid dehydrogenase/isomerase (1);	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	H	0.96430	3.82	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.96958	0.9699	10	0.87932	D	0	-30.1722	18.5624	0.91105	0.0:0.0:1.0:0.0	.	232	Q8WUS8	D42E1_HUMAN	D	232	ENSP00000332407:H232D	ENSP00000332407:H232D	H	-	1	0	SDR42E1	80590705	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.611000	0.88343	0.655000	0.94253	CAC		PASS	0.532	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		82	216	82	216	---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83520150	83520150	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr16:83520150T>C	ENST00000566620.1	+	7	1140	c.850T>C	c.(850-852)Tat>Cat	p.Y284H	CDH13_ENST00000268613.10_Missense_Mutation_p.Y331H|CDH13_ENST00000428848.3_Missense_Mutation_p.Y245H|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	284	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.Y284H(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCTCCTGCGGTATAATATCCG	0.537																																						uc002fgx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(850-852)TAT>CAT		cadherin 13 preproprotein							81.0	83.0	82.0					16																	83520150		2094	4217	6311	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83520150T>C	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.850T>C	16.37:g.83520150T>C	ENSP00000454435:p.Tyr284His					CDH13_uc010vns.1_Missense_Mutation_p.Y331H|CDH13_uc010vnt.1_Missense_Mutation_p.Y30H|CDH13_uc010vnu.1_Missense_Mutation_p.Y245H	p.Y284H	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	7	970	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	284			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.850T>C	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.823512	0.90873	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.62941	-0.01	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88016	0.6324	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.995;0.998;1.0	D	0.92891	0.6331	9	0.87932	D	0	.	15.0525	0.71885	0.0:0.0:0.0:1.0	.	245;331;284	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	H	331;284;245	ENSP00000268613:Y331H	ENSP00000268613:Y331H	Y	+	1	0	CDH13	82077651	1.000000	0.71417	0.764000	0.31436	0.973000	0.67179	7.362000	0.79507	2.144000	0.66660	0.533000	0.62120	TAT		PASS	0.537	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		36	77	36	77	---	---	---	---
SLC25A11	8402	broad.mit.edu	37	17	4841830	4841830	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:4841830C>G	ENST00000225665.7	-	4	863	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	RNF167_ENST00000576229.1_5'Flank|SLC25A11_ENST00000544061.2_Missense_Mutation_p.E124Q|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	175					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)	p.E175Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AGGACACCCTCTTCCCGGGTG	0.587																																					Esophageal Squamous(144;1178 2388 18010 48797)	uc002fzo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)GAG>CAG		solute carrier family 25 member 11 isoform 1							98.0	110.0	106.0					17																	4841830		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841830C>G	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.523G>C	17.37:g.4841830C>G	ENSP00000225665:p.Glu175Gln					SLC25A11_uc002fzp.1_Missense_Mutation_p.E171Q|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	p.E175Q	NM_003562	NP_003553	Q02978	M2OM_HUMAN			4	636	-			175			Solcar 2.		F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.523G>C	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934724	0.52866	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	D;D	0.82526	-1.62;-1.62	5.74	5.74	0.90152	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92844	0.7724	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93812	0.7111	10	0.87932	D	0	-29.8658	17.4172	0.87504	0.0:1.0:0.0:0.0	.	175;175	Q6IBH0;Q02978	.;M2OM_HUMAN	Q	175;124	ENSP00000225665:E175Q;ENSP00000440804:E124Q	ENSP00000225665:E175Q	E	-	1	0	SLC25A11	4782575	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	6.487000	0.73633	2.712000	0.92718	0.563000	0.77884	GAG		PASS	0.587	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		7	193	7	193	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29679291	29679291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:29679291C>T	ENST00000358273.4	+	51	7857	c.7474C>T	c.(7474-7476)Cag>Tag	p.Q2492*	NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Nonsense_Mutation_p.Q285*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2471*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2492					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q2492*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAGGAGACTCAGCCATGGTC	0.473			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM032013	NF1	M		c.(7474-7476)CAG>TAG		neurofibromin isoform 1							76.0	66.0	69.0					17																	29679291		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29679291C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7474C>T	17.37:g.29679291C>T	ENSP00000351015:p.Gln2492*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.Q2471*|NF1_uc010cso.2_Nonsense_Mutation_p.Q680*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA	p.Q2492*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	51	7807	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2492					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7474C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811182	0.96975	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	6.06	6.06	0.98353	.	0.109676	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	19.6164	0.95636	0.0:1.0:0.0:0.0	.	.	.	.	X	2492;2471;2137;285	.	ENSP00000348498:Q2471X	Q	+	1	0	NF1	26703417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.184000	0.77705	2.871000	0.98454	0.655000	0.94253	CAG		PASS	0.473	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	144	7	144	---	---	---	---
RHBDL3	162494	broad.mit.edu	37	17	30621462	30621462	+	Splice_Site	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:30621462G>C	ENST00000269051.4	+	5	682		c.e5+1		RHBDL3_ENST00000536287.1_Splice_Site|RHBDL3_ENST00000538145.1_Splice_Site	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)							integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGCATGCAGGGTGAGTACCTG	0.418																																						uc002hhe.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5+1		rhomboid protease 3							90.0	76.0	81.0					17																	30621462		2203	4300	6503	SO:0001630	splice_region_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30621462G>C	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.668+1G>C	17.37:g.30621462G>C						RHBDL3_uc010csw.1_Splice_Site_p.G215_splice|RHBDL3_uc010csx.1_Splice_Site_p.G223_splice|RHBDL3_uc010csy.1_Splice_Site_p.G125_splice|RHBDL3_uc002hhf.1_Splice_Site_p.G125_splice	p.G223_splice	NM_138328	NP_612201	P58872	RHBL3_HUMAN			5	682	+		Breast(31;0.116)|Ovarian(249;0.182)						A6NMH1|Q495Y4|Q495Y5|Q495Y6	Splice_Site	SNP	ENST00000269051.4	37	c.668_splice	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894204	0.91889	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHBDL3	27645575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	.		PASS	0.418	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	Intron	40	97	40	97	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34079743	34079743	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:34079743G>A	ENST00000254466.6	-	1	154	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R43C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	43	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.R43C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAGAGGTCGCGAAGCCACTCA	0.612																																						uc002hjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(127-129)CGC>TGC		growth arrest-specific 2 like 2							77.0	63.0	68.0					17																	34079743		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079743G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.127C>T	17.37:g.34079743G>A	ENSP00000254466:p.Arg43Cys						p.R43C	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	155	-		Ovarian(249;0.17)	43			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.127C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298482	0.60195	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	D	0.95205	-3.64	5.46	4.45	0.53987	Calponin homology domain (5);	0.112242	0.39909	N	0.001226	D	0.96466	0.8847	M	0.77486	2.375	0.39447	D	0.967348	D	0.76494	0.999	D	0.65773	0.938	D	0.96464	0.9343	10	0.72032	D	0.01	-18.5821	12.6405	0.56707	0.0:0.0:0.7034:0.2966	.	43	Q8NHY3	GA2L2_HUMAN	C	43	ENSP00000254466:R43C	ENSP00000254466:R43C	R	-	1	0	GAS2L2	31103856	1.000000	0.71417	0.987000	0.45799	0.611000	0.37282	3.774000	0.55341	2.847000	0.97988	0.591000	0.81541	CGC		PASS	0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		4	98	4	98	---	---	---	---
KRT33A	3883	broad.mit.edu	37	17	39503459	39503459	+	Missense_Mutation	SNP	G	G	A	rs143073969	byFrequency	TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:39503459G>A	ENST00000007735.3	-	4	648	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	202	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R202C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGCTGGCAGCGCAGGGTGTTA	0.502													G|||	3	0.000599042	0.0015	0.0	5008	,	,		19513	0.0		0.001	False		,,,				2504	0.0					uc002hwk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)CGC>TGC		keratin 33A		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	56.0	56.0		604	3.6	1.0	17	dbSNP_134	56	0,8600		0,0,4300	no	missense	KRT33A	NM_004138.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	202/405	39503459	1,13005	2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503459G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.604C>T	17.37:g.39503459G>A	ENSP00000007735:p.Arg202Cys						p.R202C	NM_004138	NP_004129	O76009	KT33A_HUMAN			4	641	-		Breast(137;0.000496)	202			Rod.|Coil 1B.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.604C>T	CCDS11388.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	18.44	3.624962	0.66901	2.27E-4	0.0	ENSG00000006059	ENST00000007735	D	0.89681	-2.55	4.6	3.6	0.41247	Filament (1);	0.000000	0.64402	D	0.000005	D	0.94833	0.8331	M	0.93241	3.395	0.51482	D	0.999929	D	0.76494	0.999	D	0.67382	0.951	D	0.94880	0.8038	10	0.87932	D	0	.	9.9624	0.41704	0.0:0.0:0.7975:0.2025	.	202	O76009	KT33A_HUMAN	C	202	ENSP00000007735:R202C	ENSP00000007735:R202C	R	-	1	0	KRT33A	36756985	0.835000	0.29415	1.000000	0.80357	0.983000	0.72400	1.911000	0.39937	1.248000	0.43934	0.655000	0.94253	CGC		PASS	0.502	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		5	76	5	76	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42332032	42332032	+	Splice_Site	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:42332032T>C	ENST00000262418.6	-	16	2046		c.e16-2			NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)						anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.?(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGAGAGTTTCTGTGGGAGGGG	0.617																																						uc002igf.3																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e16-1		solute carrier family 4, anion exchanger, member							33.0	30.0	31.0					17																	42332032		2203	4300	6503	SO:0001630	splice_region_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42332032T>C		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1891-2A>G	17.37:g.42332032T>C							p.K631_splice	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	16	2040	-		Breast(137;0.014)|Prostate(33;0.0181)						G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Splice_Site	SNP	ENST00000262418.6	37	c.1891_splice	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819718	0.71028	.	.	ENSG00000004939	ENST00000262418	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3257	0.74160	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC4A1	39687558	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	6.753000	0.74904	2.086000	0.62901	0.459000	0.35465	.		PASS	0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	Intron	11	27	11	27	---	---	---	---
KPNB1	3837	broad.mit.edu	37	17	45748153	45748153	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:45748153C>T	ENST00000290158.4	+	12	1909	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	KPNB1_ENST00000540627.1_Missense_Mutation_p.S356F|KPNB1_ENST00000537679.1_Missense_Mutation_p.S285F|KPNB1_ENST00000535458.2_Missense_Mutation_p.S356F	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	501					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.S501F(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TGCTTATCTTCTTCATTTGAA	0.428																																						uc002ilt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1501-1503)TCT>TTT		karyopherin beta 1							150.0	144.0	146.0					17																	45748153		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45748153C>T	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1502C>T	17.37:g.45748153C>T	ENSP00000290158:p.Ser501Phe					KPNB1_uc010wkw.1_Missense_Mutation_p.S356F|KPNB1_uc010wkx.1_Missense_Mutation_p.S285F	p.S501F	NM_002265	NP_002256	Q14974	IMB1_HUMAN			12	1838	+			501					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.1502C>T	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845291	0.51164	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.063289	0.64402	D	0.000003	T	0.70798	0.3265	L	0.46157	1.445	0.40169	D	0.977151	D;P	0.58620	0.983;0.921	P;B	0.50440	0.641;0.437	T	0.75393	-0.3333	9	0.72032	D	0.01	-14.496	19.1919	0.93671	0.0:1.0:0.0:0.0	.	285;501	F5H4R7;Q14974	.;IMB1_HUMAN	F	356;501;356;285	ENSP00000438253:S356F;ENSP00000290158:S501F;ENSP00000438964:S356F;ENSP00000445006:S285F	ENSP00000290158:S501F	S	+	2	0	KPNB1	43103152	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	7.818000	0.86416	2.539000	0.85634	0.650000	0.86243	TCT		PASS	0.428	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		6	273	6	273	---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66364803	66364803	+	Silent	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:66364803C>T	ENST00000448504.2	+	7	1615	c.819C>T	c.(817-819)ctC>ctT	p.L273L	ARSG_ENST00000452479.2_Silent_p.L109L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	273					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L273L(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGCAGGGCTCTGGGAGATGG	0.542																																						uc002jhc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(817-819)CTC>CTT		Arylsulfatase G precursor							116.0	109.0	111.0					17																	66364803		2203	4300	6503	SO:0001819	synonymous_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66364803C>T	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.819C>T	17.37:g.66364803C>T						ARSG_uc002jhb.1_Silent_p.L109L	p.L273L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	1615	+			273					Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	c.819C>T	CCDS11676.1																																																																																				PASS	0.542	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		12	207	12	207	---	---	---	---
COG1	9382	broad.mit.edu	37	17	71189264	71189264	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:71189264C>G	ENST00000299886.4	+	1	136	c.56C>G	c.(55-57)gCg>gGg	p.A19G	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	19					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A19G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGCGACCCTGCGGCTCTTTTC	0.662																																						uc002jjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)GCG>GGG		component of oligomeric golgi complex 1							15.0	18.0	17.0					17																	71189264		2195	4294	6489	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71189264C>G		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.56C>G	17.37:g.71189264C>G	ENSP00000299886:p.Ala19Gly					COG1_uc002jjh.2_Missense_Mutation_p.A19G|COG1_uc002jjf.1_Missense_Mutation_p.A19G	p.A19G	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	92	+			19					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.56C>G	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089263	0.36855	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.23348	1.91;1.91	3.64	1.3	0.21679	.	0.823966	0.11049	N	0.605237	T	0.17023	0.0409	N	0.22421	0.69	0.27689	N	0.946193	B;B;B	0.32918	0.39;0.266;0.39	B;B;B	0.36766	0.23;0.232;0.23	T	0.24440	-1.0160	10	0.37606	T	0.19	-4.5368	6.3904	0.21583	0.5246:0.3391:0.1363:0.0	.	19;19;19	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	G	19	ENSP00000400111:A19G;ENSP00000299886:A19G	ENSP00000299886:A19G	A	+	2	0	COG1	68700859	0.160000	0.22878	0.998000	0.56505	0.985000	0.73830	0.127000	0.15790	0.789000	0.33779	0.484000	0.47621	GCG		PASS	0.662	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			7	12	7	12	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32462135	32462135	+	Silent	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr18:32462135G>C	ENST00000399113.3	+	20	2184	c.2184G>C	c.(2182-2184)ctG>ctC	p.L728L	DTNA_ENST00000269192.7_Silent_p.L437L|DTNA_ENST00000590831.2_Silent_p.L154L|DTNA_ENST00000591182.1_Silent_p.L376L|DTNA_ENST00000556414.3_Silent_p.L380L|DTNA_ENST00000598334.1_Silent_p.L668L|DTNA_ENST00000269190.7_Silent_p.L729L|DTNA_ENST00000399097.3_Silent_p.L376L|DTNA_ENST00000598142.1_Silent_p.L671L|DTNA_ENST00000601125.1_Silent_p.L350L|DTNA_ENST00000595022.1_Silent_p.L668L|DTNA_ENST00000399121.5_Silent_p.L675L|DTNA_ENST00000444659.1_Silent_p.L728L|DTNA_ENST00000283365.9_Silent_p.L671L|DTNA_ENST00000592449.1_3'UTR			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	728					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L729L(1)|p.L376L(1)|p.L728L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGGAATACCTGAAACAGAAGC	0.512																																						uc010dmn.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(2182-2184)CTG>CTC		dystrobrevin alpha isoform 1							70.0	69.0	69.0					18																	32462135		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32462135G>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2184G>C	18.37:g.32462135G>C						DTNA_uc002kxw.2_Silent_p.L671L|DTNA_uc010dmj.2_Silent_p.L668L|DTNA_uc002kxz.2_Silent_p.L675L|DTNA_uc002kxy.2_Silent_p.L668L|DTNA_uc010xby.1_Silent_p.L418L|DTNA_uc010xbz.1_Silent_p.L437L|DTNA_uc010xca.1_Silent_p.L380L|DTNA_uc002kye.2_Silent_p.L376L	p.L728L	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			20	2185	+			728					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.2184G>C	CCDS59311.1																																																																																				PASS	0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	96	4	96	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56363671	56363671	+	Silent	SNP	C	C	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr19:56363671C>A	ENST00000301295.6	+	2	647	c.225C>A	c.(223-225)atC>atA	p.I75I	NLRP4_ENST00000346986.5_Silent_p.I75I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	75	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.I75I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTTAAGAATCTTTCAAAAGA	0.443																																						uc002qmd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(223-225)ATC>ATA		NLR family, pyrin domain containing 4							79.0	81.0	80.0					19																	56363671		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56363671C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.225C>A	19.37:g.56363671C>A							p.I75I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	647	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	75			DAPIN.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.225C>A	CCDS12936.1																																																																																				PASS	0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	125	4	125	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30784525	30784525	+	Silent	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr20:30784525G>A	ENST00000246229.4	-	3	1485	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	407					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L407L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAGCAGCGCAGAGGGCCTCAG	0.652																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1219-1221)CTC>CTT		pleiomorphic adenoma gene-like 2							26.0	27.0	27.0					20																	30784525		2202	4300	6502	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784525G>A		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1221C>T	20.37:g.30784525G>A							p.L407L	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1438	-			407					A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.1221C>T	CCDS13197.1																																																																																				PASS	0.652	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		4	44	4	44	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62378374	62378374	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr20:62378374G>A	ENST00000245663.4	-	5	1829	c.1679C>T	c.(1678-1680)gCg>gTg	p.A560V	RP4-583P15.10_ENST00000447343.2_RNA|RP4-583P15.10_ENST00000433905.2_RNA|ZBTB46_ENST00000302995.2_Missense_Mutation_p.A560V|ZBTB46_ENST00000395104.1_Missense_Mutation_p.A560V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	560					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A560V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCCAACAGCGCATCCTCAGG	0.711																																						uc002ygv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1678-1680)GCG>GTG		zinc finger and BTB domain containing 46							32.0	30.0	31.0					20																	62378374		2199	4293	6492	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62378374G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1679C>T	20.37:g.62378374G>A	ENSP00000245663:p.Ala560Val					ZBTB46_uc002ygu.2_RNA	p.A560V	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			5	1880	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		560					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.1679C>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367196	0.24771	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.09911	2.93;2.93;2.93	3.74	1.36	0.22044	.	0.578792	0.16280	N	0.221386	T	0.04182	0.0116	N	0.04880	-0.145	0.20403	N	0.999906	B	0.09022	0.002	B	0.01281	0.0	T	0.39663	-0.9603	10	0.29301	T	0.29	.	4.3444	0.11126	0.641:0.0:0.359:0.0	.	560	Q86UZ6	ZBT46_HUMAN	V	560	ENSP00000245663:A560V;ENSP00000303102:A560V;ENSP00000378536:A560V	ENSP00000245663:A560V	A	-	2	0	ZBTB46	61848818	0.001000	0.12720	0.171000	0.22900	0.121000	0.20230	1.046000	0.30354	0.542000	0.28846	0.462000	0.41574	GCG		PASS	0.711	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		3	40	3	40	---	---	---	---
DNAJC28	54943	broad.mit.edu	37	21	34861439	34861439	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr21:34861439C>G	ENST00000314399.3	-	2	700	c.262G>C	c.(262-264)Gat>Cat	p.D88H	DNAJC28_ENST00000402202.1_Missense_Mutation_p.D88H|DNAJC28_ENST00000381947.3_Missense_Mutation_p.D88H	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	88	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.							p.D88H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GTTGCAGAATCAGCAGTATTA	0.413																																						uc002yrv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)GAT>CAT		DnaJ (Hsp40) homolog, subfamily C, member 28							137.0	128.0	131.0					21																	34861439		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34861439C>G	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.262G>C	21.37:g.34861439C>G	ENSP00000320303:p.Asp88His					DNAJC28_uc002yrw.2_Missense_Mutation_p.D88H	p.D88H	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			2	711	-			88			J.		D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.262G>C	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723271	0.30503	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	T;T;T	0.30182	1.54;1.54;1.54	5.79	4.91	0.64330	Heat shock protein DnaJ, N-terminal (5);	0.150281	0.56097	D	0.000021	T	0.54127	0.1839	M	0.81614	2.55	0.46260	D	0.998953	D	0.76494	0.999	D	0.69824	0.966	T	0.58634	-0.7602	10	0.66056	D	0.02	-15.6677	10.0681	0.42317	0.0:0.8453:0.0:0.1547	.	88	Q9NX36	DJC28_HUMAN	H	88	ENSP00000371373:D88H;ENSP00000320303:D88H;ENSP00000385777:D88H	ENSP00000320303:D88H	D	-	1	0	DNAJC28	33783309	0.990000	0.36364	0.206000	0.23566	0.194000	0.23727	2.886000	0.48578	1.465000	0.48006	-0.140000	0.14226	GAT		PASS	0.413	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			9	232	9	232	---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47532209	47532209	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr21:47532209G>C	ENST00000300527.4	+	3	536	c.432G>C	c.(430-432)caG>caC	p.Q144H	COL6A2_ENST00000310645.5_Missense_Mutation_p.Q144H|COL6A2_ENST00000357838.4_Missense_Mutation_p.Q144H|COL6A2_ENST00000409416.1_Missense_Mutation_p.Q144H|COL6A2_ENST00000397763.1_Missense_Mutation_p.Q144H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	144	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.Q144H(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGACGGAGCAGATCCGGCAGG	0.692																																						uc002zia.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)|ovary(1)	8						c.(430-432)CAG>CAC		alpha 2 type VI collagen isoform 2C2 precursor							25.0	26.0	26.0					21																	47532209		2202	4299	6501	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532209G>C	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.432G>C	21.37:g.47532209G>C	ENSP00000300527:p.Gln144His					COL6A2_uc002zhy.1_Missense_Mutation_p.Q144H|COL6A2_uc002zhz.1_Missense_Mutation_p.Q144H|COL6A2_uc002zib.1_Intron	p.Q144H	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	514	+	Breast(49;0.245)		144			VWFA 1.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.432G>C	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	2.706	-0.269781	0.05716	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	4.34	2.47	0.30058	von Willebrand factor, type A (3);	0.494431	0.21860	N	0.068059	T	0.79429	0.4444	N	0.25647	0.755	0.23210	N	0.998114	P;B;B	0.37612	0.602;0.077;0.006	P;B;B	0.48524	0.58;0.052;0.026	T	0.71735	-0.4503	10	0.56958	D	0.05	-12.5023	10.7645	0.46286	0.2304:0.0:0.7696:0.0	.	144;144;144	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	144	ENSP00000300527:Q144H;ENSP00000350497:Q144H;ENSP00000312529:Q144H;ENSP00000390418:Q144H;ENSP00000387115:Q144H;ENSP00000380870:Q144H	ENSP00000300527:Q144H	Q	+	3	2	COL6A2	46356637	0.993000	0.37304	0.037000	0.18230	0.273000	0.26683	2.091000	0.41691	0.961000	0.38030	0.467000	0.42956	CAG		PASS	0.692	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			4	25	4	25	---	---	---	---
IGLV1-47	28822	broad.mit.edu	37	22	22712517	22712517	+	RNA	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr22:22712517C>T	ENST00000390294.2	+	0	316									immunoglobulin lambda variable 1-47																		GGCTCCAAGTCTGGCACCTCA	0.582																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							110.0	107.0	108.0					22																	22712517		1900	4110	6010			96610							g.chr22:22712517C>T	Z73663		22q11.2	2012-02-08			ENSG00000211648	ENSG00000211648		"""Immunoglobulins / IGL locus"""	5880	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151048		22.37:g.22712517C>T														41		+									RNA	SNP	ENST00000390294.2	37	c.4305C>T																																																																																					PASS	0.582	IGLV1-47-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321108.2	NG_000002		17	281	17	281	---	---	---	---
NPTXR	23467	broad.mit.edu	37	22	39224304	39224304	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr22:39224304C>T	ENST00000333039.2	-	2	961	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	280						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.E280K(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCTCCAGCTCAGCCACACGA	0.612																																					Pancreas(139;2521 3281 36965)	uc003awk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(838-840)GAG>AAG		neuronal pentraxin receptor							79.0	59.0	66.0					22																	39224304		2203	4299	6502	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39224304C>T	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.838G>A	22.37:g.39224304C>T	ENSP00000327545:p.Glu280Lys						p.E280K	NM_014293	NP_055108	O95502	NPTXR_HUMAN			2	992	-	Melanoma(58;0.04)		280			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000333039.2	37	c.838G>A	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890894	0.72524	.	.	ENSG00000221890	ENST00000333039	T	0.11604	2.76	5.69	5.69	0.88448	.	0.056406	0.64402	D	0.000001	T	0.34571	0.0902	M	0.67397	2.05	0.42774	D	0.993846	D	0.71674	0.998	D	0.75484	0.986	T	0.01553	-1.1326	9	0.72032	D	0.01	-32.7329	19.8052	0.96529	0.0:1.0:0.0:0.0	.	280	O95502	NPTXR_HUMAN	K	280	ENSP00000327545:E280K	ENSP00000327545:E280K	E	-	1	0	NPTXR	37554250	0.999000	0.42202	0.948000	0.38648	0.204000	0.24138	4.305000	0.59110	2.688000	0.91661	0.561000	0.74099	GAG		PASS	0.612	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		35	94	35	94	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43996133	43996133	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr22:43996133C>T	ENST00000262726.7	-	23	2945	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	898	EF-hand 10. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E898K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCCCTCGGTGTCGTAT	0.428																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(2692-2694)GAG>AAG		CAP-binding protein complex interacting protein							112.0	115.0	114.0					22																	43996133		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43996133C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2692G>A	22.37:g.43996133C>T	ENSP00000262726:p.Glu898Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.E746K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E746K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E124K	p.E898K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			23	2907	-		Ovarian(80;0.0247)|all_neural(38;0.025)	898			EF-hand 10.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2692G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149491	0.37923	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07800	3.16;3.16	5.0	2.86	0.33363	EF-hand-like domain (1);	0.251434	0.29940	N	0.010811	T	0.07999	0.0200	L	0.59436	1.845	0.22468	N	0.999077	P;D	0.56746	0.897;0.977	B;B	0.39465	0.196;0.3	T	0.31779	-0.9931	10	0.25751	T	0.34	-28.7596	9.1154	0.36755	0.0:0.8248:0.0:0.1752	.	746;898	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	746;898	ENSP00000379533:E746K;ENSP00000262726:E898K	ENSP00000262726:E898K	E	-	1	0	EFCAB6	42327466	0.060000	0.20803	0.872000	0.34217	0.680000	0.39746	1.029000	0.30140	1.333000	0.45449	0.655000	0.94253	GAG		PASS	0.428	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		6	329	6	329	---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21900556	21900556	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chrX:21900556T>C	ENST00000379484.5	+	11	1442	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	448					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L448P(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCCAGGTACCTGATTTCCCTC	0.413																																						uc004dae.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)CTG>CCG		membrane-bound transcription factor peptidase,							124.0	118.0	120.0					X																	21900556		2203	4300	6503	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21900556T>C	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1343T>C	X.37:g.21900556T>C	ENSP00000368798:p.Leu448Pro					MBTPS2_uc010nfr.2_Missense_Mutation_p.L41P	p.L448P	NM_015884	NP_056968	O43462	MBTP2_HUMAN			11	1540	+			448			Helical; (Potential).		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.1343T>C	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163522	0.78226	.	.	ENSG00000012174	ENST00000379484	D	0.94000	-3.33	5.76	5.76	0.90799	Peptidase M50 (1);	0.072181	0.56097	D	0.000025	D	0.96300	0.8793	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	D	0.96751	0.9554	10	0.87932	D	0	-11.8979	15.0505	0.71865	0.0:0.0:0.0:1.0	.	448	O43462	MBTP2_HUMAN	P	448	ENSP00000368798:L448P	ENSP00000368798:L448P	L	+	2	0	MBTPS2	21810477	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.586000	0.82596	1.937000	0.56155	0.437000	0.28790	CTG		PASS	0.413	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			3	149	3	149	---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48652460	48652460	+	Silent	SNP	C	C	T			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chrX:48652460C>T	ENST00000376670.3	+	6	1242	c.1131C>T	c.(1129-1131)agC>agT	p.S377S	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	377					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S377S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GGCCTGTTAGCCACCTCATGC	0.662			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3				Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(1129-1131)AGC>AGT		GATA binding protein 1							29.0	28.0	28.0					X																	48652460		2203	4300	6503	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48652460C>T	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1131C>T	X.37:g.48652460C>T							p.S377S	NM_002049	NP_002040	P15976	GATA1_HUMAN			6	1222	+			377					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.1131C>T	CCDS14305.1																																																																																				PASS	0.662	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		12	5	12	5	---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57515355	57515355	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chrX:57515355G>A	ENST00000374900.4	+	11	1709	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	530						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.G530E(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTCTGTCCAGGAAAGTTTTAG	0.483										HNSCC(52;0.14)																												uc004dvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1588-1590)GGA>GAA		fatty acid amide hydrolase 2							64.0	61.0	62.0					X																	57515355		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57515355G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1589G>A	X.37:g.57515355G>A	ENSP00000364035:p.Gly530Glu	HNSCC(52;0.14)					p.G530E	NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN			11	1738	+			530					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.1589G>A	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.349171	0.41599	.	.	ENSG00000165591	ENST00000374900	T	0.64438	-0.1	2.46	2.46	0.29980	.	0.000000	0.85682	U	0.000000	T	0.47395	0.1443	N	0.16862	0.45	0.44694	D	0.997688	P	0.49961	0.93	P	0.46796	0.527	T	0.47420	-0.9119	10	0.52906	T	0.07	.	8.42	0.32694	0.0:0.0:1.0:0.0	.	530	Q6GMR7	FAAH2_HUMAN	E	530	ENSP00000364035:G530E	ENSP00000364035:G530E	G	+	2	0	FAAH2	57532080	1.000000	0.71417	0.331000	0.25455	0.515000	0.34225	5.249000	0.65427	1.180000	0.42898	0.538000	0.68166	GGA		PASS	0.483	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		4	63	4	63	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100911754	100911754	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chrX:100911754G>A	ENST00000328766.5	-	5	1274	c.821C>T	c.(820-822)gCg>gTg	p.A274V	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A274V|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A274V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	274	Ala-rich.					integral component of membrane (GO:0016021)		p.A274V(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CGCTCCAGTCGCTGATGTGGC	0.562																																						uc004eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(820-822)GCG>GTG		ALEX2 protein							120.0	119.0	119.0					X																	100911754		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911754G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.821C>T	X.37:g.100911754G>A	ENSP00000331662:p.Ala274Val					ARMCX2_uc004eie.3_Missense_Mutation_p.A274V|ARMCX2_uc004eif.3_Missense_Mutation_p.A274V|ARMCX2_uc004eig.3_Missense_Mutation_p.A274V|ARMCX2_uc010nnt.2_Missense_Mutation_p.A274V	p.A274V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1176	-			274			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.821C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	4.143	0.024852	0.08054	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.36878	1.23;1.23;1.23	4.47	1.65	0.23941	.	0.639543	0.12934	N	0.427083	T	0.17662	0.0424	N	0.19112	0.55	0.09310	N	0.999995	B	0.15719	0.014	B	0.06405	0.002	T	0.22977	-1.0201	10	0.21540	T	0.41	-1.3175	1.6039	0.02680	0.2008:0.1606:0.4718:0.1669	.	274	Q7L311	ARMX2_HUMAN	V	274	ENSP00000331662:A274V;ENSP00000328631:A274V;ENSP00000349281:A274V	ENSP00000331662:A274V	A	-	2	0	ARMCX2	100798410	0.905000	0.30787	0.025000	0.17156	0.117000	0.20001	0.890000	0.28295	0.081000	0.16988	0.422000	0.28245	GCG		PASS	0.562	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		39	187	39	187	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154774821	154774821	+	Silent	SNP	G	G	C			TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chrX:154774821G>C	ENST00000334398.3	-	2	262	c.117C>G	c.(115-117)gtC>gtG	p.V39V	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Silent_p.V39V	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	39					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.V39V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGCCAATGGACAGCTAAAG	0.463																																						uc004fnn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(115-117)GTC>GTG		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						114.0	98.0	104.0					X																	154774821		2202	4292	6494	SO:0001819	synonymous_variant	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154774821G>C	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.117C>G	X.37:g.154774821G>C						TMLHE_uc004fno.2_Silent_p.V39V|TMLHE_uc004fnp.3_Silent_p.V39V	p.V39V	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			2	283	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		39					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Silent	SNP	ENST00000334398.3	37	c.117C>G	CCDS14768.1																																																																																				PASS	0.463	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		8	100	8	100	---	---	---	---
FAM166B	730112	broad.mit.edu	37	9	35562393	35562394	+	Frame_Shift_Ins	INS	-	-	TAGT	rs142582869|rs72402422|rs3068510	byFrequency	TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr9:35562393_35562394insTAGT	ENST00000399742.2	-	5	792_793	c.722_723insACTA	c.(721-723)tatfs	p.Y241fs	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	241								p.Y225fs*1(1)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CGTAGCCCCCATAGTTAGGTAA	0.564														577	0.115216	0.0628	0.0663	5008	,	,		14357	0.2252		0.0437	False		,,,				2504	0.181					uc010mkr.2																			1	Insertion - Frameshift(1)		large_intestine(1)		0						c.(721-723)TATfs		hypothetical protein LOC730112 isoform 1			,	210,3366		15,180,1593					,	-2.7	1.0		dbSNP_130	24	274,7576		6,262,3657	no	frameshift,utr-3	FAM166B	NM_001164310.1,NM_001099951.2	,	21,442,5250	A1A1,A1R,RR		3.4904,5.8725,4.236	,	,		484,10942				SO:0001589	frameshift_variant	730112							g.chr9:35562393_35562394insTAGT	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.719_722dupACTA	9.37:g.35562394_35562397dupTAGT	ENSP00000382646:p.Tyr241fs					FAM166B_uc011lov.1_Frame_Shift_Ins_p.Y229fs|FAM166B_uc011low.1_Frame_Shift_Ins_p.M226fs|FAM166B_uc003zwy.2_3'UTR	p.Y241fs	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN			5	793_794	-			241					A1L3B2|B7ZBJ0	Frame_Shift_Ins	INS	ENST00000399742.2	37	c.722_723insACTA	CCDS56572.1																																																																																					0.564	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		10	8	10	8	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-	rs11575998		TCGA-60-2707-01A-01D-1522-08	TCGA-60-2707-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1fa470-2789-4576-9743-0362af682c1d	278eaa1f-56e1-48e7-903f-9b9c3ad9eb82	g.chr17:7579585delG	ENST00000269305.4	-	4	291	c.102delC	c.(100-102)cccfs	p.P34fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P34fs	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	34	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> L (in a sporadic cancer; 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.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(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)	GGGACGGCAAGGGGGACTGTA	0.597		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		16	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)|Insertion - Frameshift(1)	p.0?(7)|p.P34L(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(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.(100-102)CCCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							148.0	144.0	145.0					17																	7579585		2203	4300	6503	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.chr17:7579585delG	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.102delC	17.37:g.7579585delG	ENSP00000269305:p.Pro34fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.P34fs|TP53_uc002gih.2_Frame_Shift_Del_p.P34fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P34fs|TP53_uc010cni.1_Frame_Shift_Del_p.P34fs|TP53_uc002gij.2_Frame_Shift_Del_p.P34fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P49fs	p.P34fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	296	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	34		P -> L (in a sporadic cancer; somatic mutation).	Transcription activation (acidic).|Interaction with HRMT1L2.		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.102delC	CCDS11118.1																																																																																					0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		191	120	191	120	---	---	---	---
