#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	3102984	3102984	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:3102984C>T	ENST00000270722.5	+	2	382	c.333C>T	c.(331-333)ggC>ggT	p.G111G	PRDM16_ENST00000378398.3_Silent_p.G111G|PRDM16_ENST00000378391.2_Silent_p.G111G|PRDM16_ENST00000442529.2_Silent_p.G111G|PRDM16_ENST00000511072.1_Silent_p.G111G|PRDM16_ENST00000514189.1_Silent_p.G111G|PRDM16_ENST00000441472.2_Silent_p.G111G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	111	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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.G111G(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)		AGAGGCTGGGCCCCTGCGTGG	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 - coding silent(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(331-333)GGC>GGT		PR domain containing 16 isoform 1							18.0	24.0	22.0					1																	3102984		1933	4115	6048	SO:0001819	synonymous_variant	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.chr1:3102984C>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.333C>T	1.37:g.3102984C>T						PRDM16_uc001akc.2_Silent_p.G111G|PRDM16_uc001akd.2_Silent_p.G111G|PRDM16_uc001ake.2_Silent_p.G111G|PRDM16_uc009vlh.2_5'UTR	p.G111G	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)	2	413	+	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)	111			SET.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.333C>T	CCDS41236.2																																																																																				PASS	0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		4	41	4	41	---	---	---	---
CEP104	9731	broad.mit.edu	37	1	3761503	3761503	+	Silent	SNP	G	G	A	rs201775417		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:3761503G>A	ENST00000378230.3	-	6	858	c.534C>T	c.(532-534)agC>agT	p.S178S	CEP104_ENST00000378223.3_Silent_p.S178S	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	178						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.S178S(2)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CAGGGTCCTCGCTGTTGTGCC	0.478													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16536	0.0		0.0	False		,,,				2504	0.0					uc001aky.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(532-534)AGC>AGT		glycine-, glutamate-,							120.0	102.0	108.0					1																	3761503		2203	4300	6503	SO:0001819	synonymous_variant	9731					centriole	binding	g.chr1:3761503G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.534C>T	1.37:g.3761503G>A						KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Silent_p.S178S	p.S178S	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	6	893	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	178					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	c.534C>T	CCDS30571.1																																																																																				PASS	0.478	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		4	98	4	98	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17557070	17557070	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:17557070G>A	ENST00000375471.4	+	10	1149	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000413717.2_5'Flank|PADI1_ENST00000537499.1_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	353					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.E353K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CTCCCAGGACGAGATGGAGTT	0.577																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)GAG>AAG		peptidylarginine deiminase type I	L-Citrulline(DB00155)						53.0	52.0	53.0					1																	17557070		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17557070G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1057G>A	1.37:g.17557070G>A	ENSP00000364620:p.Glu353Lys					PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	p.E353K	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	10	1149	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	353					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1057G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631341	0.96682	.	.	ENSG00000142623	ENST00000375471	T	0.32515	1.45	5.63	5.63	0.86233	Protein-arginine deiminase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.64316	0.2587	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.70568	-0.4836	10	0.59425	D	0.04	-40.0898	18.2484	0.89995	0.0:0.0:1.0:0.0	.	353	Q9ULC6	PADI1_HUMAN	K	353	ENSP00000364620:E353K	ENSP00000364620:E353K	E	+	1	0	PADI1	17429657	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.510000	0.81708	2.644000	0.89710	0.655000	0.94253	GAG		PASS	0.577	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		4	39	4	39	---	---	---	---
SLC30A2	7780	broad.mit.edu	37	1	26369919	26369919	+	Missense_Mutation	SNP	G	G	A	rs148861822		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:26369919G>A	ENST00000374278.3	-	3	611	c.395C>T	c.(394-396)aCg>aTg	p.T132M	SLC30A2_ENST00000374276.3_Missense_Mutation_p.T181M|SLC30A2_ENST00000498060.1_5'Flank	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	132					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.T181M(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCCCGACGTGATCAGCAT	0.607																																						uc001blh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)ACG>ATG		solute carrier family 30, member 2 isoform 2		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	137.0	110.0	119.0		542,395	5.6	1.0	1	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	SLC30A2	NM_001004434.1,NM_032513.3	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	181/373,132/324	26369919	1,13005	2203	4300	6503	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26369919G>A	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.395C>T	1.37:g.26369919G>A	ENSP00000363396:p.Thr132Met					SLC30A2_uc001blg.1_Missense_Mutation_p.T181M	p.T132M	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	3	612	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132			Helical; (Potential).		Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.395C>T	CCDS272.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120621	0.77323	2.27E-4	0.0	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.63255	-0.03;-0.03	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	D	0.82618	0.5076	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.85343	0.1097	10	0.87932	D	0	-13.3377	18.3818	0.90453	0.0:0.0:1.0:0.0	.	132;181	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	M	132;181	ENSP00000363396:T132M;ENSP00000363394:T181M	ENSP00000363394:T181M	T	-	2	0	SLC30A2	26242506	1.000000	0.71417	0.956000	0.39512	0.268000	0.26511	9.841000	0.99482	2.629000	0.89072	0.655000	0.94253	ACG		PASS	0.607	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		5	36	5	36	---	---	---	---
EYA3	2140	broad.mit.edu	37	1	28337512	28337512	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:28337512C>A	ENST00000373871.3	-	10	1095	c.855G>T	c.(853-855)aaG>aaT	p.K285N	EYA3_ENST00000373864.1_Missense_Mutation_p.K128N|EYA3_ENST00000373863.3_Missense_Mutation_p.K239N|EYA3_ENST00000545175.1_Missense_Mutation_p.K232N|EYA3_ENST00000540618.1_Missense_Mutation_p.K239N|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.K159N	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	285					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K285N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCCCGGTTCTTGCTAGTCA	0.413																																						uc001bpi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(853-855)AAG>AAT		eyes absent 3							135.0	121.0	126.0					1																	28337512		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28337512C>A	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.855G>T	1.37:g.28337512C>A	ENSP00000362978:p.Lys285Asn					EYA3_uc010ofs.1_Missense_Mutation_p.K232N|EYA3_uc010oft.1_Missense_Mutation_p.K239N|EYA3_uc001bpj.2_Missense_Mutation_p.K239N|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	p.K285N	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	10	1020	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	285					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.855G>T	CCDS316.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720782	0.68959	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.4;-1.4;-1.4	5.2	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;0.957;1.0	D;B;D	0.91635	0.994;0.374;0.999	D	0.87259	0.2278	10	0.56958	D	0.05	-30.6194	10.5643	0.45163	0.0:0.8414:0.0:0.1586	.	239;239;285	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	N	285;159;128;239;232;239	ENSP00000362978:K285N;ENSP00000405587:K159N;ENSP00000362971:K128N;ENSP00000442558:K239N;ENSP00000442280:K232N;ENSP00000362970:K239N	ENSP00000362970:K239N	K	-	3	2	EYA3	28210099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.754000	0.38369	1.170000	0.42753	0.655000	0.94253	AAG		PASS	0.413	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		11	130	11	130	---	---	---	---
PTAFR	5724	broad.mit.edu	37	1	28477434	28477434	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:28477434A>T	ENST00000373857.3	-	2	733	c.99T>A	c.(97-99)aaT>aaA	p.N33K	PTAFR_ENST00000305392.3_Missense_Mutation_p.N33K|PTAFR_ENST00000539896.1_Missense_Mutation_p.N33K	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	33					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.N33K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GCACGTAGCCATTAGCAATGA	0.493																																						uc001bpl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)AAT>AAA		platelet-activating factor receptor							71.0	64.0	67.0					1																	28477434		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477434A>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.99T>A	1.37:g.28477434A>T	ENSP00000362965:p.Asn33Lys					PTAFR_uc001bpm.3_Missense_Mutation_p.N33K|PTAFR_uc009vte.2_Missense_Mutation_p.N33K	p.N33K	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	226	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	33			Helical; Name=1; (Potential).		A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.99T>A	CCDS318.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562150	0.65538	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	D;D;D	0.96619	-4.07;-4.07;-4.07	5.71	-2.94	0.05581	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	M	0.92555	3.32	0.41674	D	0.989257	D	0.89917	1.0	D	0.97110	1.0	D	0.97649	1.0153	10	0.87932	D	0	.	15.328	0.74182	0.3316:0.0:0.6684:0.0	.	33	P25105	PTAFR_HUMAN	K	33	ENSP00000362965:N33K;ENSP00000442658:N33K;ENSP00000301974:N33K	ENSP00000301974:N33K	N	-	3	2	PTAFR	28350021	0.851000	0.29673	0.901000	0.35422	0.776000	0.43924	0.765000	0.26546	-0.808000	0.04387	-0.250000	0.11733	AAT		PASS	0.493	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		7	41	7	41	---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36564093	36564093	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:36564093C>T	ENST00000397799.1	-	4	1413	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R	COL8A2_ENST00000481785.1_Missense_Mutation_p.G332R|COL8A2_ENST00000303143.4_Missense_Mutation_p.G397R			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	397	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G397R(1)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACTAGGCCCCTGGTCACCT	0.697																																						uc001bzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1189-1191)GGG>AGG		collagen, type VIII, alpha 2 precursor							8.0	10.0	9.0					1																	36564093		2180	4264	6444	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564093C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1189G>A	1.37:g.36564093C>T	ENSP00000380901:p.Gly397Arg					COL8A2_uc001bzw.1_Missense_Mutation_p.G332R	p.G397R	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	1196	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	397			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1189G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395939	0.62177	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.99637	-6.29;-6.29;-6.29	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96337	0.9248	10	0.87932	D	0	.	17.427	0.87529	0.0:1.0:0.0:0.0	.	397	P25067	CO8A2_HUMAN	R	397;397;332	ENSP00000305913:G397R;ENSP00000380901:G397R;ENSP00000436433:G332R	ENSP00000305913:G397R	G	-	1	0	COL8A2	36336680	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.577000	0.82486	2.338000	0.79540	0.462000	0.41574	GGG		PASS	0.697	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		3	16	3	16	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38411462	38411462	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:38411462G>A	ENST00000373026.1	-	2	118	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	INPP5B_ENST00000373023.2_Missense_Mutation_p.R40C|INPP5B_ENST00000373021.1_Missense_Mutation_p.R40C|INPP5B_ENST00000373024.3_Missense_Mutation_p.R40C			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	40	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.R40C(1)|p.R77C(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCGGTAGCGCACGAGTCCC	0.667																																						uc001ccg.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)	1						c.(118-120)CGC>TGC		inositol polyphosphate-5-phosphatase, 75kDa							51.0	63.0	59.0					1																	38411462		2079	4198	6277	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38411462G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.118C>T	1.37:g.38411462G>A	ENSP00000362117:p.Arg40Cys					INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR	p.R40C	NM_005540	NP_005531	P32019	I5P2_HUMAN			3	212	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	40					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.118C>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.310746	0.81358	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.92911	-3.12;-3.12;-3.13;0.59	4.85	3.93	0.45458	.	0.243014	0.35291	N	0.003317	D	0.94712	0.8294	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94527	0.7732	10	0.87932	D	0	.	10.9825	0.47504	0.0:0.0:0.8141:0.1859	.	40	P32019-2	.	C	40	ENSP00000362114:R40C;ENSP00000362117:R40C;ENSP00000362115:R40C;ENSP00000362112:R40C	ENSP00000362112:R40C	R	-	1	0	INPP5B	38184049	0.956000	0.32656	0.589000	0.28718	0.144000	0.21451	0.889000	0.28282	1.150000	0.42419	0.563000	0.77884	CGC		PASS	0.667	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		5	112	5	112	---	---	---	---
EDN2	1907	broad.mit.edu	37	1	41949800	41949800	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:41949800G>A	ENST00000372587.4	-	2	208	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	EDN2_ENST00000490783.1_Intron	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	47					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)	p.R47C(1)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCAACGGCGAAGCCGAAGG	0.612																																						uc001cgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)CGC>TGC		endothelin 2 preproprotein							49.0	41.0	43.0					1																	41949800		2202	4300	6502	SO:0001583	missense	1907				artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	g.chr1:41949800G>A	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.139C>T	1.37:g.41949800G>A	ENSP00000361668:p.Arg47Cys					EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_RNA	p.R47C	NM_001956	NP_001947	P20800	EDN2_HUMAN			2	211	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	47					Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	c.139C>T	CCDS462.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169505	0.78452	.	.	ENSG00000127129	ENST00000372587	D	0.91295	-2.82	5.75	4.77	0.60923	Endothelin-like toxin (1);	0.057779	0.64402	D	0.000002	D	0.92635	0.7660	L	0.43152	1.355	0.42436	D	0.992691	D	0.89917	1.0	D	0.81914	0.995	D	0.92942	0.6373	10	0.87932	D	0	-26.6128	13.1407	0.59432	0.0:0.0:0.7879:0.2121	.	47	P20800	EDN2_HUMAN	C	47	ENSP00000361668:R47C	ENSP00000361668:R47C	R	-	1	0	EDN2	41722387	0.780000	0.28664	0.705000	0.30386	0.892000	0.51952	2.529000	0.45632	2.714000	0.92807	0.561000	0.74099	CGC		PASS	0.612	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		4	46	4	46	---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45798117	45798117	+	Missense_Mutation	SNP	C	C	T	rs140342925		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:45798117C>T	ENST00000372098.3	-	9	858	c.725G>A	c.(724-726)cGt>cAt	p.R242H	MUTYH_ENST00000354383.6_Missense_Mutation_p.R218H|MUTYH_ENST00000450313.1_Missense_Mutation_p.R245H|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372110.3_Missense_Mutation_p.R232H|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.R217H|MUTYH_ENST00000528013.2_Missense_Mutation_p.R231H|MUTYH_ENST00000372104.1_Missense_Mutation_p.R217H|MUTYH_ENST00000372100.5_Missense_Mutation_p.R228H|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000355498.2_Missense_Mutation_p.R217H|MUTYH_ENST00000372115.3_Missense_Mutation_p.R231H|MUTYH_ENST00000448481.1_Missense_Mutation_p.R228H			Q9UIF7	MUTYH_HUMAN	mutY homolog	242					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.R242H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCTCGGACACGGCACAGCAC	0.617			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM053997|CM074362	MUTYH	M	rs140342925	c.(724-726)CGT>CAT	BER_DNA_glycosylases	mutY homolog isoform 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	38.0	36.0	36.0		692,653,650,650,734,725	5.6	1.0	1	dbSNP_134	36	1,8599	2.2+/-6.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense	MUTYH	NM_001048171.1,NM_001048172.1,NM_001048173.1,NM_001048174.1,NM_001128425.1,NM_012222.2	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	231/536,218/523,217/522,217/522,245/550,242/547	45798117	1,13005	2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45798117C>T	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.725G>A	1.37:g.45798117C>T	ENSP00000361170:p.Arg242His					MUTYH_uc009vxn.2_Missense_Mutation_p.R67H|MUTYH_uc001cnf.2_Missense_Mutation_p.R217H|MUTYH_uc009vxo.2_Missense_Mutation_p.R217H|MUTYH_uc001cng.2_Missense_Mutation_p.R228H|MUTYH_uc001cnj.2_Missense_Mutation_p.R125H|MUTYH_uc001cni.2_Missense_Mutation_p.R217H|MUTYH_uc001cnh.2_Missense_Mutation_p.R218H|MUTYH_uc001cno.2_Missense_Mutation_p.R125H|MUTYH_uc001cnk.2_Missense_Mutation_p.R102H|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R231H|MUTYH_uc009vxp.2_Missense_Mutation_p.R245H|MUTYH_uc001cnn.2_Missense_Mutation_p.R232H	p.R242H	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			9	941	-	Acute lymphoblastic leukemia(166;0.155)		242					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.725G>A	CCDS520.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490336	0.84962	0.0	1.16E-4	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971;ENST00000435155;ENST00000528013	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-2.49;-3.73;-3.73	5.6	5.6	0.85130	HhH-GPD domain (2);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.80764	0.989;0.989;0.982;0.989;0.989;0.994;0.989	D	0.98799	1.0739	10	0.87932	D	0	-5.4465	19.2142	0.93768	0.0:1.0:0.0:0.0	.	245;242;232;242;231;125;218	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;MUTYH_HUMAN;.;.;.	H	217;228;217;218;217;242;232;231;245;228;89;89;228;231	ENSP00000361176:R217H;ENSP00000409718:R228H;ENSP00000407590:R217H;ENSP00000346354:R218H;ENSP00000347685:R217H;ENSP00000361170:R242H;ENSP00000361182:R232H;ENSP00000361187:R231H;ENSP00000408176:R245H;ENSP00000361172:R228H;ENSP00000410263:R89H;ENSP00000403655:R228H;ENSP00000433130:R231H	ENSP00000346354:R218H	R	-	2	0	MUTYH	45570704	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.059000	0.76684	2.640000	0.89533	0.655000	0.94253	CGT		PASS	0.617	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		5	70	5	70	---	---	---	---
CDKN2C	1031	broad.mit.edu	37	1	51439730	51439730	+	Missense_Mutation	SNP	G	G	A	rs537858214		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:51439730G>A	ENST00000262662.1	+	4	2329	c.295G>A	c.(295-297)Gag>Aag	p.E99K	CDKN2C_ENST00000396148.1_Missense_Mutation_p.E99K|CDKN2C_ENST00000371761.3_Missense_Mutation_p.E99K			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	99					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.E99K(1)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		TGTTAACATCGAGGATAATGA	0.532			D		"""glioma, MM"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		19793	0.0		0.0	False		,,,				2504	0.001				Melanoma(47;50 1155 4767 22863 47597)	uc001csf.2				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			glioma|MM		13	Whole gene deletion(11)|Substitution - Missense(1)|Unknown(1)	p.0?(4)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)|lung(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17						c.(295-297)GAG>AAG		cyclin-dependent kinase inhibitor 2C							81.0	75.0	77.0					1																	51439730		2203	4300	6503	SO:0001583	missense	1031	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439730G>A	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.295G>A	1.37:g.51439730G>A	ENSP00000262662:p.Glu99Lys					CDKN2C_uc001csg.2_Missense_Mutation_p.E99K	p.E99K	NM_001262	NP_001253	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	3	1511	+			99					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.295G>A	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668935	0.29604	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.61510	0.1;0.1;0.1	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.179933	0.48767	D	0.000161	T	0.18841	0.0452	N	0.00517	-1.405	0.39270	D	0.964371	P	0.43909	0.821	B	0.32022	0.139	T	0.53229	-0.8468	10	0.02654	T	1	-10.409	15.5961	0.76583	0.0:0.1369:0.8631:0.0	.	99	P42773	CDN2C_HUMAN	K	99	ENSP00000262662:E99K;ENSP00000379452:E99K;ENSP00000360826:E99K	ENSP00000262662:E99K	E	+	1	0	CDKN2C	51212318	0.969000	0.33509	1.000000	0.80357	0.997000	0.91878	1.597000	0.36729	2.770000	0.95276	0.655000	0.94253	GAG		PASS	0.532	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		5	70	5	70	---	---	---	---
COA7	65260	broad.mit.edu	37	1	53153698	53153698	+	Silent	SNP	G	G	A	rs570410543		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:53153698G>A	ENST00000371538.3	-	3	429	c.390C>T	c.(388-390)gaC>gaT	p.D130D	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2												p.D130D(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CCTTTCCCAAGTCAGGCTGGC	0.542																																						uc001cui.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)GAC>GAT		hypothetical protein LOC65260							133.0	110.0	118.0					1																	53153698		2203	4300	6503	SO:0001819	synonymous_variant	65260						binding	g.chr1:53153698G>A																												ENST00000371538.3:c.390C>T	1.37:g.53153698G>A							p.D130D	NM_023077	NP_075565	Q96BR5	SELR1_HUMAN			3	430	-			130			Sel1-like 3.			Silent	SNP	ENST00000371538.3	37	c.390C>T	CCDS570.1																																																																																				PASS	0.542	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			5	124	5	124	---	---	---	---
CDCP2	200008	broad.mit.edu	37	1	54607066	54607066	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:54607066G>A	ENST00000371330.1	-	3	1315	c.468C>T	c.(466-468)ctC>ctT	p.L156L	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	156	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.L156L(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGGACTGGTGAGGACCCCTG	0.607																																						uc001cwv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(466-468)CTC>CTT		CUB domain containing protein 2 precursor							41.0	43.0	43.0					1																	54607066		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54607066G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.468C>T	1.37:g.54607066G>A							p.L156L	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			3	1316	-			156			CUB 2.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.468C>T	CCDS588.2																																																																																				PASS	0.607	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		5	61	5	61	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57481000	57481000	+	Missense_Mutation	SNP	G	G	A	rs575241471	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:57481000G>A	ENST00000371231.1	-	13	1133	c.1099C>T	c.(1099-1101)Ccg>Tcg	p.P367S	DAB1_ENST00000439789.2_Missense_Mutation_p.P248S|DAB1_ENST00000414851.2_Missense_Mutation_p.P316S|DAB1_ENST00000420954.2_Missense_Mutation_p.P332S|DAB1_ENST00000371236.2_Missense_Mutation_p.P334S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P334S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	367					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.P334S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGAGCCCCCGGCATCACCTGA	0.667													G|||	3	0.000599042	0.0	0.0	5008	,	,		14669	0.0		0.0	False		,,,				2504	0.0031					uc001cys.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1000-1002)CCG>TCG		disabled homolog 1							35.0	38.0	37.0					1																	57481000		2203	4298	6501	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57481000G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1099C>T	1.37:g.57481000G>A	ENSP00000360275:p.Pro367Ser					DAB1_uc001cyt.1_Missense_Mutation_p.P332S|DAB1_uc001cyq.1_Missense_Mutation_p.P332S|DAB1_uc001cyr.1_Missense_Mutation_p.P248S|DAB1_uc009vzw.1_Missense_Mutation_p.P316S|DAB1_uc009vzx.1_Missense_Mutation_p.P334S	p.P334S	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1674	-			367					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.666040	0.88251	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.54071	0.75;0.75;0.59;0.71;1.63;0.65	5.54	5.54	0.83059	.	0.098967	0.64402	D	0.000001	T	0.61236	0.2331	L	0.50333	1.59	0.58432	D	0.999997	D;P;P;B;D	0.54397	0.966;0.899;0.917;0.419;0.966	P;P;P;B;P	0.53689	0.732;0.721;0.732;0.275;0.732	T	0.53107	-0.8485	10	0.27785	T	0.31	-10.2179	19.6787	0.95950	0.0:0.0:1.0:0.0	.	316;367;334;248;332	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	334;334;334;332;316;248;367	ENSP00000360280:P334S;ENSP00000360278:P334S;ENSP00000395296:P332S;ENSP00000387581:P316S;ENSP00000409328:P248S;ENSP00000360275:P367S	ENSP00000360275:P367S	P	-	1	0	DAB1	57253588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.890000	0.99128	0.650000	0.86243	CCG		PASS	0.667	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		6	89	6	89	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92184997	92184997	+	Missense_Mutation	SNP	C	C	T	rs375360299		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:92184997C>T	ENST00000525962.1	-	9	1499	c.1438G>A	c.(1438-1440)Gtc>Atc	p.V480I	TGFBR3_ENST00000370399.2_Missense_Mutation_p.V479I|TGFBR3_ENST00000212355.4_Missense_Mutation_p.V480I			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	480	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.V480I(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AACAGGGTGACGTCCATCCCC	0.517																																						uc001doh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1438-1440)GTC>ATC		transforming growth factor, beta receptor III		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	125.0	107.0	113.0		1435,1435,1438	1.4	1.0	1		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TGFBR3	NM_001195683.1,NM_001195684.1,NM_003243.4	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	479/851,479/851,480/852	92184997	1,13005	2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92184997C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1438G>A	1.37:g.92184997C>T	ENSP00000436127:p.Val480Ile					TGFBR3_uc009wde.2_Missense_Mutation_p.V257I|TGFBR3_uc010osy.1_Missense_Mutation_p.V438I|TGFBR3_uc001doi.2_Missense_Mutation_p.V479I|TGFBR3_uc001doj.2_Missense_Mutation_p.V479I	p.V480I	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	10	1904	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	480			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1438G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	6.122	0.390780	0.11581	0.0	1.16E-4	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.48	1.41	0.22369	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.263786	0.36482	N	0.002563	T	0.37625	0.1010	N	0.04959	-0.14	0.25442	N	0.988088	B;B;B	0.27498	0.122;0.18;0.122	B;B;B	0.14023	0.006;0.01;0.006	T	0.28618	-1.0038	10	0.30854	T	0.27	-11.0919	11.9036	0.52697	0.0:0.3875:0.4873:0.1252	.	480;479;480	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	I	480;479;480;479	ENSP00000212355:V480I;ENSP00000359426:V479I;ENSP00000436127:V480I;ENSP00000432638:V479I	ENSP00000212355:V480I	V	-	1	0	TGFBR3	91957585	0.963000	0.33076	0.961000	0.40146	0.035000	0.12851	1.471000	0.35365	0.071000	0.16664	-1.420000	0.01111	GTC		PASS	0.517	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		7	90	7	90	---	---	---	---
SASS6	163786	broad.mit.edu	37	1	100551139	100551139	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:100551139T>A	ENST00000287482.5	-	16	1960	c.1820A>T	c.(1819-1821)gAt>gTt	p.D607V	SASS6_ENST00000462159.1_5'UTR|RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000535161.1_Missense_Mutation_p.D440V	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	607					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.D607V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		AGGAATGCTATCTTCCCTTTT	0.313																																						uc001dsu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1819-1821)GAT>GTT		spindle assembly abnormal protein 6							145.0	141.0	143.0					1																	100551139		2203	4300	6503	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100551139T>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1820A>T	1.37:g.100551139T>A	ENSP00000287482:p.Asp607Val					SASS6_uc009wdz.2_Missense_Mutation_p.D440V	p.D607V	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	16	1961	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	607					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.1820A>T	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470526	0.63625	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.37058	1.22;1.22	5.45	3.09	0.35607	.	0.286624	0.36374	N	0.002638	T	0.23806	0.0576	L	0.54323	1.7	0.53688	D	0.999976	P	0.47762	0.9	P	0.49477	0.612	T	0.03784	-1.1004	10	0.52906	T	0.07	-10.5134	5.8978	0.18949	0.0:0.1424:0.1401:0.7174	.	607	Q6UVJ0	SAS6_HUMAN	V	607;580;440	ENSP00000287482:D607V;ENSP00000440169:D440V	ENSP00000287482:D607V	D	-	2	0	SASS6	100323727	0.995000	0.38212	1.000000	0.80357	0.984000	0.73092	2.051000	0.41307	0.354000	0.24105	0.528000	0.53228	GAT		PASS	0.313	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		5	151	5	151	---	---	---	---
KCNC4	3749	broad.mit.edu	37	1	110765655	110765655	+	Missense_Mutation	SNP	G	G	A	rs561508073		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:110765655G>A	ENST00000369787.3	+	2	775	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	KCNC4_ENST00000438661.2_Missense_Mutation_p.A250T|KCNC4_ENST00000413138.3_Missense_Mutation_p.A250T|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	250					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A250T(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACCCATGAGGCCTTTAATAT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		21889	0.0		0.0	False		,,,				2504	0.001					uc001dzh.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(748-750)GCC>ACC		Shaw-related voltage-gated potassium channel							141.0	128.0	132.0					1																	110765655		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765655G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.748G>A	1.37:g.110765655G>A	ENSP00000358802:p.Ala250Thr					KCNC4_uc001dzf.2_Missense_Mutation_p.A250T|KCNC4_uc009wfr.2_Missense_Mutation_p.A250T|KCNC4_uc001dzg.2_Missense_Mutation_p.A250T|KCNC4_uc001dzi.2_RNA	p.A250T	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	805	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	250					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.748G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604381	0.46423	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97430	-4.38;-4.38;-4.38	4.74	4.74	0.60224	.	0.050249	0.85682	D	0.000000	D	0.93067	0.7793	L	0.39326	1.205	0.58432	D	0.999999	B;B;B	0.26041	0.002;0.049;0.14	B;B;B	0.36666	0.028;0.061;0.23	D	0.91002	0.4843	10	0.29301	T	0.29	.	13.0978	0.59202	0.0:0.0:0.8394:0.1606	.	250;250;250	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	T	250	ENSP00000358802:A250T;ENSP00000388029:A250T;ENSP00000393655:A250T	ENSP00000358802:A250T	A	+	1	0	KCNC4	110567178	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.647000	0.74354	2.337000	0.79520	0.455000	0.32223	GCC		PASS	0.582	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		8	145	8	145	---	---	---	---
VANGL1	81839	broad.mit.edu	37	1	116206498	116206498	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:116206498G>A	ENST00000355485.2	+	4	692	c.421G>A	c.(421-423)Gag>Aag	p.E141K	VANGL1_ENST00000310260.3_Missense_Mutation_p.E141K|VANGL1_ENST00000369510.4_Missense_Mutation_p.E139K|VANGL1_ENST00000369509.1_Missense_Mutation_p.E141K	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	141					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.E141K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTGGAGGGATGAGCTGGAGCC	0.507																																						uc001efv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(421-423)GAG>AAG		vang-like 1							116.0	111.0	113.0					1																	116206498		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206498G>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.421G>A	1.37:g.116206498G>A	ENSP00000347672:p.Glu141Lys					VANGL1_uc009wgy.1_Missense_Mutation_p.E139K|VANGL1_uc001efw.1_Missense_Mutation_p.E141K	p.E141K	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	692	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	141			Extracellular (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.421G>A	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950782	0.34471	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.34	3.38	0.38709	.	0.355746	0.31542	N	0.007465	T	0.55401	0.1918	L	0.39020	1.185	0.31689	N	0.642127	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.39272	-0.9622	10	0.19147	T	0.46	-7.0142	15.7505	0.77983	0.0:0.2586:0.7414:0.0	.	139;141	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	K	141;139;141;141	ENSP00000347672:E141K;ENSP00000358523:E139K;ENSP00000310800:E141K;ENSP00000358522:E141K	ENSP00000310800:E141K	E	+	1	0	VANGL1	116008021	0.996000	0.38824	0.648000	0.29521	0.998000	0.95712	2.649000	0.46656	0.673000	0.31224	0.650000	0.86243	GAG		PASS	0.507	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			12	146	12	146	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147096108	147096108	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:147096108G>T	ENST00000234739.3	+	10	4369	c.3629G>T	c.(3628-3630)aGc>aTc	p.S1210I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1210	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S1210I(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGGGGAACAGCATGCCTTCG	0.577			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(3628-3630)AGC>ATC		B-cell CLL/lymphoma 9							57.0	59.0	59.0					1																	147096108		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096108G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3629G>T	1.37:g.147096108G>T	ENSP00000234739:p.Ser1210Ile					BCL9_uc010ozr.1_Missense_Mutation_p.S1124I	p.S1210I	NM_004326	NP_004317	O00512	BCL9_HUMAN			10	4369	+	all_hematologic(923;0.115)		1210			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3629G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632643	0.29068	.	.	ENSG00000116128	ENST00000234739	T	0.57595	0.39	4.93	2.61	0.31194	.	0.129254	0.64402	D	0.000001	T	0.13415	0.0325	N	0.08118	0	0.31983	N	0.605603	P;P	0.36733	0.567;0.567	B;B	0.36608	0.229;0.229	T	0.05068	-1.0908	10	0.72032	D	0.01	-13.5263	4.2914	0.10879	0.498:0.0:0.502:0.0	.	1210;1210	Q1JQ81;O00512	.;BCL9_HUMAN	I	1210	ENSP00000234739:S1210I	ENSP00000234739:S1210I	S	+	2	0	BCL9	145562732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.675000	0.54605	1.188000	0.43014	0.655000	0.94253	AGC		PASS	0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		9	157	9	157	---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150974945	150974945	+	Missense_Mutation	SNP	C	C	T	rs201811445		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:150974945C>T	ENST00000361936.5	-	3	1103	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	FAM63A_ENST00000361738.6_Missense_Mutation_p.R98Q|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	50						extracellular vesicular exosome (GO:0070062)		p.R50Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGGCTCCCGTTCTCTAGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18984	0.001		0.0	False		,,,				2504	0.0					uc001ewf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)CGG>CAG		hypothetical protein LOC55793 isoform 1							109.0	100.0	103.0					1																	150974945		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150974945C>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.149G>A	1.37:g.150974945C>T	ENSP00000354814:p.Arg50Gln					FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.R98Q|FAM63A_uc001ewg.2_Missense_Mutation_p.R50Q	p.R50Q	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1833	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		50					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.149G>A	CCDS976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.529	-0.544968	0.04024	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	T;T	0.42131	1.05;0.98	5.18	1.23	0.21249	.	18.889900	0.03847	N	0.271629	T	0.04363	0.0120	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.01281	0.0;0.0	T	0.17592	-1.0364	10	0.11182	T	0.66	-3.4821	2.1479	0.03791	0.1517:0.0857:0.3141:0.4484	.	98;50	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	Q	50;98	ENSP00000354814:R50Q;ENSP00000354669:R98Q	ENSP00000354669:R98Q	R	-	2	0	FAM63A	149241569	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.312000	0.08113	0.066000	0.16515	-0.290000	0.09829	CGG		PASS	0.592	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		6	170	6	170	---	---	---	---
SLC39A1	27173	broad.mit.edu	37	1	153932959	153932959	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:153932959G>A	ENST00000368623.3	-	3	1349	c.590C>T	c.(589-591)gCg>gTg	p.A197V	SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.A197V|SLC39A1_ENST00000537590.1_Missense_Mutation_p.A95V|CRTC2_ENST00000368630.3_5'Flank|CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000310483.6_Missense_Mutation_p.A197V|SLC39A1_ENST00000368621.1_Missense_Mutation_p.A197V|CRTC2_ENST00000476883.1_5'Flank			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	197					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.A197V(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CAGCCCTACCGCCAGCCCCTC	0.677																																						uc001fdh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GCG>GTG		solute carrier family 39 (zinc transporter),							39.0	38.0	38.0					1																	153932959		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153932959G>A	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.590C>T	1.37:g.153932959G>A	ENSP00000357612:p.Ala197Val					CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdj.2_Missense_Mutation_p.A197V|SLC39A1_uc001fdk.2_Missense_Mutation_p.A197V|SLC39A1_uc010pee.1_Missense_Mutation_p.A95V|SLC39A1_uc001fdl.2_Missense_Mutation_p.A197V	p.A197V	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	4	759	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		197			Helical; (Potential).		B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.590C>T	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972168	0.53614	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000002	T	0.76652	0.4017	M	0.72479	2.2	0.47511	D	0.999449	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.957	T	0.78623	-0.2132	10	0.59425	D	0.04	-15.6247	15.292	0.73872	0.0:0.0:1.0:0.0	.	95;197	B4DDY7;Q9NY26	.;S39A1_HUMAN	V	197;197;197;197;95;186;197;197;197	ENSP00000348535:A197V;ENSP00000357612:A197V;ENSP00000357610:A197V;ENSP00000309710:A197V;ENSP00000443632:A95V;ENSP00000392950:A197V;ENSP00000392229:A197V;ENSP00000407717:A197V	ENSP00000309710:A197V	A	-	2	0	SLC39A1	152199583	1.000000	0.71417	0.915000	0.36163	0.113000	0.19764	6.983000	0.76180	2.467000	0.83353	0.462000	0.41574	GCG		PASS	0.677	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		6	61	6	61	---	---	---	---
FAM189B	10712	broad.mit.edu	37	1	155217906	155217906	+	Missense_Mutation	SNP	G	G	A	rs202173544		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:155217906G>A	ENST00000361361.2	-	11	2277	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000368368.3_Missense_Mutation_p.R572C|FAM189B_ENST00000350210.2_Missense_Mutation_p.R494C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	590						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.R590C(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGAGGAAACGAGTGACCAGG	0.607																																						uc001fjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1768-1770)CGT>TGT		hypothetical protein LOC10712 isoform a		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	33.0	38.0	36.0		1768,1480	3.5	1.0	1		36	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	FAM189B	NM_006589.2,NM_198264.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	590/669,494/573	155217906	1,13005	2203	4300	6503	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155217906G>A	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1768C>T	1.37:g.155217906G>A	ENSP00000354958:p.Arg590Cys					RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.R392C|FAM189B_uc001fjn.2_Missense_Mutation_p.R494C|FAM189B_uc001fjo.2_Missense_Mutation_p.R572C|FAM189B_uc001fjp.2_RNA	p.R590C	NM_006589	NP_006580	P81408	F189B_HUMAN			11	2374	-			590					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1768C>T	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124788	0.37533	0.0	1.16E-4	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.39406	1.24;1.69;1.7;1.08	4.41	3.5	0.40072	.	0.073132	0.56097	N	0.000040	T	0.28001	0.0690	N	0.08118	0	0.41780	D	0.989818	D;P;P;P	0.89917	1.0;0.48;0.614;0.48	D;B;B;B	0.85130	0.997;0.029;0.065;0.029	T	0.35624	-0.9781	10	0.87932	D	0	.	8.3413	0.32245	0.1081:0.0:0.8919:0.0	.	355;572;494;590	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	C	494;572;590;273;312	ENSP00000307128:R494C;ENSP00000357352:R572C;ENSP00000354958:R590C;ENSP00000427011:R312C	ENSP00000323164:R273C	R	-	1	0	FAM189B	153484530	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.606000	0.46291	1.221000	0.43506	0.555000	0.69702	CGT		PASS	0.607	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		3	48	3	48	---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155263347	155263347	+	Missense_Mutation	SNP	G	G	A	rs74315362		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:155263347G>A	ENST00000342741.4	-	8	1189	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	PKLR_ENST00000392414.3_Missense_Mutation_p.T353M	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	384			T -> M (in PKRD; Tokyo/Beirut; most common mutation in Japanese population; no conformational change). {ECO:0000269|PubMed:1896471, ECO:0000269|PubMed:2018831}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.T384M(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCTGCCCTCGTTGGCCGGGG	0.587																																						uc001fkb.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(4)|ovary(1)	5	GRCh37	CM910300	PKLR	M	rs74315362	c.(1150-1152)ACG>ATG		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						64.0	53.0	57.0					1																	155263347		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155263347G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1151C>T	1.37:g.155263347G>A	ENSP00000339933:p.Thr384Met					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.T353M	p.T384M	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	1190	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		384		T -> M (in PKRD; Tokyo/Beirut; most common mutation in Japanese population; no conformational change).			O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1151C>T	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270284	0.80469	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99727	-6.55;-6.55	4.78	4.78	0.61160	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.99859	4.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96155	0.9111	9	0.87932	D	0	-21.1445	15.6896	0.77439	0.0:0.0:1.0:0.0	.	384;375	P30613;B1AVT1	KPYR_HUMAN;.	M	409;353;384;298	ENSP00000376214:T353M;ENSP00000339933:T384M	ENSP00000271946:T298M	T	-	2	0	PKLR	153529971	1.000000	0.71417	0.409000	0.26459	0.783000	0.44284	9.601000	0.98297	2.646000	0.89796	0.561000	0.74099	ACG		PASS	0.587	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		15	55	15	55	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838391	155838391	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:155838391G>C	ENST00000368324.4	+	2	923	c.670G>C	c.(670-672)Gac>Cac	p.D224H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	224	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.D224H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCCTGTGTTTGACGAGACCTT	0.557																																						uc001fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)GAC>CAC		synaptotagmin XI							106.0	85.0	92.0					1																	155838391		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838391G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.670G>C	1.37:g.155838391G>C	ENSP00000357307:p.Asp224His					SYT11_uc010pgq.1_Intron	p.D224H	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	933	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		224			Cytoplasmic (Potential).|C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.670G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689492	0.88735	.	.	ENSG00000132718	ENST00000368324	T	0.09163	3.01	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02232	-1.1191	10	0.87932	D	0	.	20.0189	0.97489	0.0:0.0:1.0:0.0	.	224	Q9BT88	SYT11_HUMAN	H	224	ENSP00000357307:D224H	ENSP00000357307:D224H	D	+	1	0	SYT11	154105015	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	9.835000	0.99442	2.828000	0.97474	0.655000	0.94253	GAC		PASS	0.557	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		7	96	7	96	---	---	---	---
RXFP4	339403	broad.mit.edu	37	1	155912482	155912482	+	Silent	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:155912482C>A	ENST00000368318.3	+	1	1003	c.982C>A	c.(982-984)Cgg>Agg	p.R328R		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)	p.R328R(1)		endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGGATCTGCGGTTGAGGCT	0.662																																						uc010pgs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(982-984)CGG>AGG		relaxin 3 receptor 2							44.0	48.0	47.0					1																	155912482		2202	4300	6502	SO:0001819	synonymous_variant	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155912482C>A	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.982C>A	1.37:g.155912482C>A							p.R328R	NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN			1	1003	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		328			Cytoplasmic (Potential).		B0M0L4|Q3MJB1|Q8NGZ8	Silent	SNP	ENST00000368318.3	37	c.982C>A	CCDS1124.1																																																																																				PASS	0.662	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		15	115	15	115	---	---	---	---
UBQLN4	56893	broad.mit.edu	37	1	156020177	156020177	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:156020177G>A	ENST00000368309.3	-	4	738	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	216					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)	p.R216C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					ATCATGTGACGCATCAGATCA	0.532																																						uc001fna.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(646-648)CGT>TGT		ataxin-1 ubiquitin-like interacting protein							176.0	154.0	162.0					1																	156020177		2203	4300	6503	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156020177G>A	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.646C>T	1.37:g.156020177G>A	ENSP00000357292:p.Arg216Cys					UBQLN4_uc010pgx.1_Missense_Mutation_p.R196C	p.R216C	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			4	670	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		216					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.646C>T	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877148	0.72180	.	.	ENSG00000160803	ENST00000368309	T	0.81078	-1.45	4.49	4.49	0.54785	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.972	D	0.86226	0.1634	10	0.87932	D	0	-22.1756	9.9651	0.41719	0.0:0.0:0.6888:0.3112	.	196;216	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	C	216	ENSP00000357292:R216C	ENSP00000357292:R216C	R	-	1	0	UBQLN4	154286801	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.080000	0.50112	2.342000	0.79632	0.561000	0.74099	CGT		PASS	0.532	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		7	250	7	250	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158912017	158912017	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:158912017G>A	ENST00000368140.1	+	5	1075	c.830G>A	c.(829-831)cGt>cAt	p.R277H	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R268H|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R268H|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R277H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	277	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.R277H(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TATTCCAAACGTAATAGTCTC	0.373																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(829-831)CGT>CAT		pyrin and HIN domain family, member 1 alpha 1							44.0	46.0	45.0					1																	158912017		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158912017G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.830G>A	1.37:g.158912017G>A	ENSP00000357122:p.Arg277His					PYHIN1_uc001ftc.2_Missense_Mutation_p.R268H|PYHIN1_uc001ftd.2_Missense_Mutation_p.R277H|PYHIN1_uc001fte.2_Missense_Mutation_p.R268H	p.R277H	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			5	1075	+	all_hematologic(112;0.0378)		277			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.830G>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	1.691	-0.504031	0.04261	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	2.85	-4.41	0.03590	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01189	0.0039	N	0.05050	-0.12	0.09310	N	1	B;B;B;B	0.09022	0.001;0.0;0.002;0.001	B;B;B;B	0.09377	0.001;0.001;0.002;0.004	T	0.47873	-0.9083	9	0.13853	T	0.58	.	5.193	0.15220	0.3046:0.1726:0.5228:0.0	.	268;277;268;277	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	H	277;268;277;268	ENSP00000357122:R277H;ENSP00000357120:R268H;ENSP00000376083:R277H;ENSP00000376082:R268H	ENSP00000357120:R268H	R	+	2	0	PYHIN1	157178641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.433000	0.01021	-0.908000	0.03857	-0.294000	0.09567	CGT		PASS	0.373	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		13	53	13	53	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160260349	160260349	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:160260349T>C	ENST00000241704.7	-	32	3777	c.3548A>G	c.(3547-3549)gAa>gGa	p.E1183G	COPA_ENST00000368069.3_Missense_Mutation_p.E1192G	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1183					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.E1183G(1)|p.E1192G(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGACACTTTTCTACTGGCTT	0.463																																						uc009wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3547-3549)GAA>GGA		coatomer protein complex, subunit alpha isoform							141.0	136.0	137.0					1																	160260349		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160260349T>C	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3548A>G	1.37:g.160260349T>C	ENSP00000241704:p.Glu1183Gly					COPA_uc001fvv.3_Missense_Mutation_p.E1192G	p.E1183G	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		32	3942	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1183					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.3548A>G	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323355	0.81580	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.44083	0.93;0.93	6.03	6.03	0.97812	Coatomer, alpha subunit, C-terminal (1);	0.047282	0.85682	D	0.000000	T	0.46795	0.1411	M	0.81497	2.545	0.80722	D	1	P;P	0.44044	0.825;0.819	P;P	0.47430	0.462;0.547	T	0.55854	-0.8075	10	0.87932	D	0	-20.757	15.3822	0.74669	0.0:0.0:0.0:1.0	.	1183;1192	P53621;P53621-2	COPA_HUMAN;.	G	1192;1183	ENSP00000357048:E1192G;ENSP00000241704:E1183G	ENSP00000241704:E1183G	E	-	2	0	COPA	158526973	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	7.150000	0.77403	2.308000	0.77769	0.533000	0.62120	GAA		PASS	0.463	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		23	137	23	137	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171755080	171755080	+	Silent	SNP	G	G	C	rs370743373		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:171755080G>C	ENST00000361735.3	+	3	1241	c.975G>C	c.(973-975)gcG>gcC	p.A325A	METTL13_ENST00000367737.5_Silent_p.A169A|METTL13_ENST00000458517.1_Silent_p.A324A|METTL13_ENST00000362019.3_Silent_p.A239A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	325							methyltransferase activity (GO:0008168)	p.A325A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AACAGCTGGCGGCCAGTGCTG	0.557																																						uc001ghz.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(973-975)GCG>GCC		CGI-01 protein isoform 1							59.0	54.0	56.0					1																	171755080		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171755080G>C	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.975G>C	1.37:g.171755080G>C						METTL13_uc001gia.2_Silent_p.A239A|METTL13_uc001gib.2_Silent_p.A169A|METTL13_uc010pml.1_Silent_p.A324A	p.A325A	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			3	1322	+			325					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.975G>C	CCDS1299.1																																																																																				PASS	0.557	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		6	33	6	33	---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174221626	174221626	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:174221626C>G	ENST00000251507.4	+	7	1058	c.884C>G	c.(883-885)cCt>cGt	p.P295R	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.P258R	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.P295R(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AGCCCTGTGCCTAAGGATAGA	0.289																																						uc001gjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(883-885)CCT>CGT		RAB GTPase activating protein 1-like isoform A							79.0	87.0	84.0					1																	174221626		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174221626C>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.884C>G	1.37:g.174221626C>G	ENSP00000251507:p.Pro295Arg					RABGAP1L_uc009wwq.1_Missense_Mutation_p.P307R|RABGAP1L_uc001gjw.2_Missense_Mutation_p.P258R|RABGAP1L_uc001gjy.2_5'UTR	p.P295R	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			7	1079	+			295					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.884C>G	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414124	0.83449	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.59772	0.44;3.01;0.24	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.98;0.999	T	0.81951	-0.0698	10	0.87932	D	0	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	307;295;258	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	R	258;295;307;307	ENSP00000350027:P258R;ENSP00000251507:P295R;ENSP00000403136:P307R	ENSP00000251507:P295R	P	+	2	0	RABGAP1L	172488249	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.702000	0.92279	0.563000	0.77884	CCT		PASS	0.289	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		15	102	15	102	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207700114	207700114	+	Silent	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:207700114A>G	ENST00000367049.4	+	6	903	c.903A>G	c.(901-903)ccA>ccG	p.P301P	CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_Intron|CR1_ENST00000400960.2_Silent_p.P301P|CR1_ENST00000367052.1_Silent_p.P301P|CR1_ENST00000367053.1_Silent_p.P301P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	301	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.P301P(1)|p.P306P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCCACCTCCAGATGTCCTGC	0.478																																						uc001hfy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(901-903)CCA>CCG		complement receptor 1 isoform F precursor							18.0	30.0	27.0					1																	207700114		1049	3173	4222	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207700114A>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.903A>G	1.37:g.207700114A>G						CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Silent_p.P301P|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Silent_p.P301P|CR1_uc010psh.1_5'Flank	p.P301P	NM_000573	NP_000564	P17927	CR1_HUMAN			6	1043	+			301			Sushi 5.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.903A>G	CCDS44308.1																																																																																				PASS	0.478	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	203	6	203	---	---	---	---
SMYD2	56950	broad.mit.edu	37	1	214478553	214478553	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:214478553G>T	ENST00000366957.5	+	2	219	c.197G>T	c.(196-198)gGa>gTa	p.G66V	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.G66V	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	66	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)	p.G66V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TCCAAATGTGGAAGATGCAAG	0.458																																						uc010ptx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)GGA>GTA		SET and MYND domain containing 2							208.0	197.0	201.0					1																	214478553		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214478553G>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.197G>T	1.37:g.214478553G>T	ENSP00000355924:p.Gly66Val					SMYD2_uc009xdj.2_Intron|SMYD2_uc010ptw.1_Intron|SMYD2_uc009xdl.1_RNA	p.G66V	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	2	230	+			66			MYND-type.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.197G>T	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915947	0.92178	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.12672	2.66;2.66	5.87	5.87	0.94306	SET domain (2);Zinc finger, MYND-type (2);	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01397	-1.1365	10	0.45353	T	0.12	-5.509	20.5827	0.99408	0.0:0.0:1.0:0.0	.	66	Q9NRG4	SMYD2_HUMAN	V	66	ENSP00000355924:G66V;ENSP00000388682:G66V	ENSP00000355924:G66V	G	+	2	0	SMYD2	212545176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.458	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		15	179	15	179	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227300098	227300098	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:227300098G>T	ENST00000366769.3	-	14	3207	c.1916C>A	c.(1915-1917)gCt>gAt	p.A639D	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A639D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A639D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A639D|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A639D|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A639D|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A558D	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.A639D(2)|p.A558D(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TGCTTCAGCAGCTAGAGCTTC	0.368																																						uc001hqr.2																			3	Substitution - Missense(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(1915-1917)GCT>GAT		CDC42-binding protein kinase alpha isoform B							174.0	170.0	171.0					1																	227300098		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227300098G>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1916C>A	1.37:g.227300098G>T	ENSP00000355731:p.Ala639Asp					CDC42BPA_uc001hqs.2_Missense_Mutation_p.A558D|CDC42BPA_uc009xes.2_Missense_Mutation_p.A639D|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A639D	p.A639D	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			14	2859	-		all_cancers(173;0.156)|Prostate(94;0.0792)	639			Potential.			Missense_Mutation	SNP	ENST00000366769.3	37	c.1916C>A	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	8.782	0.928590	0.18131	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.66099	-0.17;-0.17;-0.18;-0.18;-0.19;-0.16;-0.17	5.64	3.62	0.41486	.	0.334743	0.34652	N	0.003787	T	0.50292	0.1607	L	0.47716	1.5	0.30507	N	0.769858	B;B;B;B	0.28400	0.178;0.21;0.039;0.137	B;B;B;B	0.31442	0.092;0.06;0.13;0.078	T	0.46527	-0.9185	10	0.12766	T	0.61	.	8.8382	0.35126	0.2751:0.0:0.7249:0.0	.	639;639;558;639	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	D	639;558;639;639;639;639;639	ENSP00000355731:A639D;ENSP00000355729:A558D;ENSP00000335341:A639D;ENSP00000355728:A639D;ENSP00000355726:A639D;ENSP00000443275:A639D;ENSP00000355727:A639D	ENSP00000335341:A639D	A	-	2	0	CDC42BPA	225366721	0.991000	0.36638	0.993000	0.49108	0.960000	0.62799	1.681000	0.37618	1.192000	0.43071	0.585000	0.79938	GCT		PASS	0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		11	230	11	230	---	---	---	---
IBA57	200205	broad.mit.edu	37	1	228363082	228363082	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:228363082C>T	ENST00000366711.3	+	3	941	c.939C>T	c.(937-939)ggC>ggT	p.G313G	IBA57_ENST00000546123.1_Silent_p.G120G|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	313					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)	p.G313G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						TCAGGGCTGGCCAGGGCAACG	0.637																																						uc001hsl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(937-939)GGC>GGT		hypothetical protein LOC200205 precursor							53.0	56.0	55.0					1																	228363082		2203	4300	6503	SO:0001819	synonymous_variant	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228363082C>T	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.939C>T	1.37:g.228363082C>T						C1orf69_uc010pvw.1_Silent_p.G120G	p.G313G	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			3	1028	+		Prostate(94;0.0405)	313						Silent	SNP	ENST00000366711.3	37	c.939C>T	CCDS31046.1																																																																																				PASS	0.637	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		8	110	8	110	---	---	---	---
ARV1	64801	broad.mit.edu	37	1	231131696	231131696	+	Silent	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:231131696A>G	ENST00000310256.2	+	4	696	c.639A>G	c.(637-639)gtA>gtG	p.V213V	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Silent_p.V173V	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	213					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.V213V(1)		breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TCATTAAAGTATTTGTTCTTA	0.348																																						uc009xfl.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(637-639)GTA>GTG		ARV1 homolog							108.0	107.0	107.0					1																	231131696		2203	4300	6503	SO:0001819	synonymous_variant	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231131696A>G	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.639A>G	1.37:g.231131696A>G						ARV1_uc001huh.2_Silent_p.V213V	p.V213V	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	4	668	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	213					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Silent	SNP	ENST00000310256.2	37	c.639A>G	CCDS1589.1	.	.	.	.	.	.	.	.	.	.	A	5.184	0.219579	0.09863	.	.	ENSG00000173409	ENST00000450711;ENST00000435927	.	.	.	5.4	-6.69	0.01772	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-5.3208	4.7055	0.12848	0.2339:0.097:0.4811:0.188	.	.	.	.	C	210;233	.	.	Y	+	2	0	ARV1	229198319	0.000000	0.05858	0.242000	0.24170	0.505000	0.33919	-2.062000	0.01390	-1.565000	0.01676	0.528000	0.53228	TAT		PASS	0.348	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		7	156	7	156	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650420	232650420	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:232650420G>A	ENST00000366630.1	-	2	1024	c.666C>T	c.(664-666)caC>caT	p.H222H	SIPA1L2_ENST00000262861.4_Silent_p.H222H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	222					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.H222H(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCATTGCTTTGTGGTCATAAT	0.463																																						uc001hvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(664-666)CAC>CAT		signal-induced proliferation-associated 1 like							103.0	103.0	103.0					1																	232650420		1879	4111	5990	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650420G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.666C>T	1.37:g.232650420G>A							p.H222H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	824	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	222					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.666C>T	CCDS41474.1																																																																																				PASS	0.463	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	155	6	155	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237972262	237972262	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:237972262A>T	ENST00000366574.2	+	100	14677	c.14360A>T	c.(14359-14361)aAt>aTt	p.N4787I	RYR2_ENST00000542537.1_Missense_Mutation_p.N4771I|RYR2_ENST00000360064.6_Missense_Mutation_p.N4793I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4787					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N4785I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGCATTCAATTTTTTCCGA	0.358																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14359-14361)AAT>ATT		cardiac muscle ryanodine receptor							280.0	273.0	275.0					1																	237972262		1853	4099	5952	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237972262A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14360A>T	1.37:g.237972262A>T	ENSP00000355533:p.Asn4787Ile					RYR2_uc010pyb.1_Missense_Mutation_p.N220I	p.N4787I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14480	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4787					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14360A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477535	0.84640	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98474	-4.95;-4.95;-4.95	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.64402	U	0.000015	D	0.98544	0.9514	M	0.61703	1.905	0.58432	D	0.999996	B;D	0.76494	0.135;0.999	B;D	0.85130	0.222;0.997	D	0.99851	1.1072	10	0.87932	D	0	.	14.7797	0.69756	1.0:0.0:0.0:0.0	.	220;4787	F5H3C7;Q92736	.;RYR2_HUMAN	I	4787;4793;4771;220	ENSP00000355533:N4787I;ENSP00000353174:N4793I;ENSP00000443798:N4771I	ENSP00000353174:N4793I	N	+	2	0	RYR2	236038885	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.257000	0.95545	1.953000	0.56701	0.460000	0.39030	AAT		PASS	0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	332	20	332	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243471407	243471407	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:243471407G>C	ENST00000366541.3	+	8	975	c.857G>C	c.(856-858)tGt>tCt	p.C286S	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.C286S|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.C141S|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.C243S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	286	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.C286S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TGTTTGAAATGTGCTCAGCAT	0.403																																						uc001hzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)TGT>TCT		serologically defined colon cancer antigen 8							256.0	216.0	229.0					1																	243471407		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243471407G>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.857G>C	1.37:g.243471407G>C	ENSP00000355499:p.Cys286Ser					SDCCAG8_uc010pyk.1_Missense_Mutation_p.C141S|SDCCAG8_uc010pyl.1_Missense_Mutation_p.C98S|SDCCAG8_uc001hzx.2_Missense_Mutation_p.C98S	p.C286S	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	8	1013	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	286			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.857G>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522104	0.85600	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.75264	2.295	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.953	T	0.38672	-0.9650	10	0.07482	T	0.82	-7.0596	17.7577	0.88455	0.0:0.0:1.0:0.0	.	243;286	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	S	243;286;286;141;66	ENSP00000348137:C243S;ENSP00000375721:C286S;ENSP00000355499:C286S;ENSP00000341260:C141S;ENSP00000410200:C66S	ENSP00000341260:C141S	C	+	2	0	SDCCAG8	241538030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.525000	0.81892	2.805000	0.96524	0.650000	0.86243	TGT		PASS	0.403	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		28	174	28	174	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614912	247614912	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr1:247614912C>G	ENST00000318749.6	-	1	396	c.373G>C	c.(373-375)Gac>Cac	p.D125H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D125H(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACGTAGCGGTCCAGGGCCATG	0.612																																						uc010pyx.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(373-375)GAC>CAC		olfactory receptor, family 2, subfamily B,							83.0	70.0	74.0					1																	247614912		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614912C>G		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.373G>C	1.37:g.247614912C>G	ENSP00000325682:p.Asp125His						p.D125H	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	373	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	125			Cytoplasmic (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.373G>C	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285242	0.80803	.	.	ENSG00000177535	ENST00000318749	T	0.02177	4.41	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.24812	0.0602	H	0.98314	4.2	0.49915	D	0.999837	D	0.89917	1.0	D	0.91635	0.999	T	0.43798	-0.9369	10	0.72032	D	0.01	.	16.1133	0.81278	0.0:1.0:0.0:0.0	.	125	Q5JQS5	OR2BB_HUMAN	H	125	ENSP00000325682:D125H	ENSP00000325682:D125H	D	-	1	0	OR2B11	245681535	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	4.049000	0.57397	2.749000	0.94314	0.551000	0.68910	GAC		PASS	0.612	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		14	92	14	92	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10922457	10922457	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:10922457G>A	ENST00000272238.4	+	13	1259	c.1150G>A	c.(1150-1152)Gtc>Atc	p.V384I	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.V338I	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	384					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.V338I(1)|p.V384I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCTAAACTCTGTCTTCCGACA	0.443																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1150-1152)GTC>ATC		vacuolar H+ ATPase C2 isoform a							87.0	79.0	81.0					2																	10922457		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10922457G>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1150G>A	2.37:g.10922457G>A	ENSP00000272238:p.Val384Ile					ATP6V1C2_uc002rat.2_Missense_Mutation_p.V338I	p.V384I	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	13	1259	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		384					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.1150G>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788511	0.49997	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.42900	0.96;0.96	5.88	4.03	0.46877	.	0.311154	0.30611	N	0.009251	T	0.27697	0.0681	N	0.21097	0.63	0.34007	D	0.651022	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23655	-1.0182	10	0.49607	T	0.09	-4.1749	8.6554	0.34060	0.2427:0.0:0.7573:0.0	.	338;384	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	I	384;338	ENSP00000272238:V384I;ENSP00000371077:V338I	ENSP00000272238:V384I	V	+	1	0	ATP6V1C2	10839908	1.000000	0.71417	0.471000	0.27229	0.989000	0.77384	4.158000	0.58150	0.750000	0.32877	0.655000	0.94253	GTC		PASS	0.443	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		8	53	8	53	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39552742	39552742	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:39552742G>A	ENST00000263881.3	-	12	1159	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	MAP4K3_ENST00000437545.1_Missense_Mutation_p.R216W|MAP4K3_ENST00000536018.1_De_novo_Start_InFrame|MAP4K3_ENST00000341681.5_Missense_Mutation_p.R279W|RP11-449G16.1_ENST00000609671.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	279					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R279W(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GCCAAAGACCGTGTCAAATGT	0.313																																						uc002rro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(835-837)CGG>TGG		mitogen-activated protein kinase kinase kinase							89.0	88.0	89.0					2																	39552742		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39552742G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.835C>T	2.37:g.39552742G>A	ENSP00000263881:p.Arg279Trp					MAP4K3_uc002rrp.2_Missense_Mutation_p.R279W|MAP4K3_uc010yns.1_Translation_Start_Site	p.R279W	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			12	926	-		all_hematologic(82;0.211)	279					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.835C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770768	0.69992	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.27557	1.66;1.66;1.66	5.86	4.04	0.47022	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	M	0.66939	2.045	0.80722	D	1	P;B	0.40107	0.703;0.145	B;B	0.29176	0.099;0.023	T	0.07177	-1.0786	9	.	.	.	.	15.4985	0.75677	0.0:0.0:0.7478:0.2522	.	279;279	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	W	279;216;279	ENSP00000263881:R279W;ENSP00000416958:R216W;ENSP00000345434:R279W	.	R	-	1	2	MAP4K3	39406246	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.068000	0.41471	0.780000	0.33566	0.585000	0.79938	CGG		PASS	0.313	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		5	81	5	81	---	---	---	---
SIX2	10736	broad.mit.edu	37	2	45233549	45233549	+	Silent	SNP	C	C	A	rs371909390		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:45233549C>A	ENST00000303077.6	-	2	955	c.636G>T	c.(634-636)tcG>tcT	p.S212S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	212					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S212S(2)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632																																						uc002ruo.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	pancreas(1)	1						c.(634-636)TCG>TCT		SIX homeobox 2							120.0	118.0	119.0					2																	45233549		2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233549C>A	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.636G>T	2.37:g.45233549C>A						SIX2_uc002rup.2_Silent_p.S214S	p.S212S	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			2	929	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	212					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.636G>T	CCDS1822.1																																																																																				PASS	0.632	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			9	175	9	175	---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86346095	86346095	+	Missense_Mutation	SNP	G	G	A	rs140431055	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:86346095G>A	ENST00000254630.7	+	7	532	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	PTCD3_ENST00000409277.3_Intron|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	156					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.A156T(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAGTGAAGCCGCCCTGAAGGA	0.428													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19891	0.0		0.0	False		,,,				2504	0.0					uc002sqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)GCC>ACC		pentatricopeptide repeat domain 3 precursor		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	134.0	133.0	133.0		466	5.4	1.0	2	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PTCD3	NM_017952.5	58	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	156/690	86346095	3,13003	2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86346095G>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.466G>A	2.37:g.86346095G>A	ENSP00000254630:p.Ala156Thr					PTCD3_uc010ytc.1_Intron	p.A156T	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			7	532	+			156			PPR 1.		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.466G>A	CCDS33235.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.5	4.425364	0.83667	4.54E-4	1.16E-4	ENSG00000132300	ENST00000254630	T	0.32988	1.43	5.37	5.37	0.77165	.	0.046024	0.85682	D	0.000000	T	0.39172	0.1068	L	0.51914	1.62	0.80722	D	1	D	0.69078	0.997	P	0.52454	0.699	T	0.12785	-1.0534	10	0.56958	D	0.05	-7.0155	12.3942	0.55376	0.0817:0.0:0.9183:0.0	.	156	Q96EY7	PTCD3_HUMAN	T	156	ENSP00000254630:A156T	ENSP00000254630:A156T	A	+	1	0	PTCD3	86199606	1.000000	0.71417	0.999000	0.59377	0.681000	0.39784	6.433000	0.73404	2.665000	0.90641	0.591000	0.81541	GCC		PASS	0.428	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		6	184	6	184	---	---	---	---
INPP4A	3631	broad.mit.edu	37	2	99155410	99155410	+	Silent	SNP	C	C	T	rs576701743		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:99155410C>T	ENST00000523221.1	+	7	636	c.636C>T	c.(634-636)taC>taT	p.Y212Y	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Silent_p.Y212Y|INPP4A_ENST00000545415.1_Silent_p.Y212Y|INPP4A_ENST00000074304.5_Silent_p.Y212Y|INPP4A_ENST00000409851.3_Silent_p.Y212Y|INPP4A_ENST00000409016.4_Silent_p.Y212Y			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	212					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.Y212Y(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GATCCAAATACGCTTCATTGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20831	0.0		0.001	False		,,,				2504	0.0					uc002syy.2																			2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(634-636)TAC>TAT		inositol polyphosphate-4-phosphatase, type 1							101.0	98.0	99.0					2																	99155410		2012	4174	6186	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99155410C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.636C>T	2.37:g.99155410C>T						INPP4A_uc010yvj.1_Silent_p.Y212Y|INPP4A_uc010yvk.1_Silent_p.Y212Y|INPP4A_uc002syx.2_Silent_p.Y212Y|INPP4A_uc010fik.2_Intron	p.Y212Y	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			9	1029	+			212					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.636C>T	CCDS46369.1																																																																																				PASS	0.468	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		5	39	5	39	---	---	---	---
COA5	493753	broad.mit.edu	37	2	99220597	99220597	+	Missense_Mutation	SNP	C	C	T	rs387907099		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:99220597C>T	ENST00000328709.3	-	2	243	c.157G>A	c.(157-159)Gca>Aca	p.A53T	COA5_ENST00000409997.1_Missense_Mutation_p.A53T|COA5_ENST00000483527.1_5'UTR	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	53			A -> P (in MT-C4D). {ECO:0000269|PubMed:21457908}.			mitochondrion (GO:0005739)		p.A53T(1)									TCAAAAAATGCGTACTTCAAA	0.328																																						uc002syz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GCA>ACA		hypothetical protein LOC493753							81.0	81.0	81.0					2																	99220597		2203	4300	6503	SO:0001583	missense	493753							g.chr2:99220597C>T		CCDS33257.1	2q11.2	2012-10-15	2012-10-15	2011-07-19	ENSG00000183513	ENSG00000183513		"""Mitochondrial respiratory chain complex assembly factors"""	33848	protein-coding gene	gene with protein product		613920	"""chromosome 2 open reading frame 64"""	C2orf64		21457908	Standard	NM_001008215		Approved	MGC52110, FLJ27524, Pet191	uc002syz.3	Q86WW8	OTTHUMG00000153101	ENST00000328709.3:c.157G>A	2.37:g.99220597C>T	ENSP00000330730:p.Ala53Thr					C2orf64_uc002sza.2_Intron	p.A53T	NM_001008215	NP_001008216	Q86WW8	COA5_HUMAN			2	244	-			53		A -> P (in MT-C4D).				Missense_Mutation	SNP	ENST00000328709.3	37	c.157G>A	CCDS33257.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.856891	0.00558	.	.	ENSG00000183513	ENST00000328709;ENST00000409997	T;T	0.77877	-1.13;-1.13	5.41	2.96	0.34315	.	0.371485	0.27384	N	0.019609	T	0.49423	0.1556	.	.	.	0.21386	N	0.999701	B	0.19583	0.037	B	0.17098	0.017	T	0.40496	-0.9560	9	0.02654	T	1	-10.5261	5.8344	0.18599	0.4632:0.1368:0.0:0.4	.	53	Q86WW8	COA5_HUMAN	T	53	ENSP00000330730:A53T;ENSP00000386934:A53T	ENSP00000330730:A53T	A	-	1	0	COA5	98587029	0.743000	0.28239	0.354000	0.25760	0.027000	0.11550	1.323000	0.33701	0.460000	0.27045	-0.362000	0.07510	GCA		PASS	0.328	COA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329529.2	NM_001008215		5	97	5	97	---	---	---	---
TGFBRAP1	9392	broad.mit.edu	37	2	105886000	105886000	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:105886000C>T	ENST00000393359.2	-	11	2561	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R712H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	712					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.R712H(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GAGTTGCTGGCGGTGGGGTGG	0.662																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2134-2136)CGC>CAC		transforming growth factor, beta receptor							23.0	27.0	26.0					2																	105886000		2202	4300	6502	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105886000C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2135G>A	2.37:g.105886000C>T	ENSP00000377027:p.Arg712His					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.R481H|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.R712H	p.R712H	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			11	2219	-			712					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.2135G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526046	0.85600	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.47177	0.85;0.85	5.54	5.54	0.83059	.	0.056520	0.64402	D	0.000001	T	0.69033	0.3066	M	0.72353	2.195	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	T	0.65639	-0.6119	10	0.34782	T	0.22	-34.059	19.4619	0.94921	0.0:1.0:0.0:0.0	.	167;712	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	H	712;712;167	ENSP00000377027:R712H;ENSP00000258449:R712H	ENSP00000258449:R712H	R	-	2	0	TGFBRAP1	105252432	1.000000	0.71417	0.997000	0.53966	0.673000	0.39480	5.746000	0.68681	2.611000	0.88343	0.462000	0.41574	CGC		PASS	0.662	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	29	4	29	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107459969	107459969	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:107459969C>T	ENST00000409382.3	-	2	1075	c.465G>A	c.(463-465)gaG>gaA	p.E155E	ST6GAL2_ENST00000409087.3_Silent_p.E155E|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.E155E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	155					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.E155E(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGGGCCTGGCTCCCCGGGGG	0.632																																						uc002tdq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(463-465)GAG>GAA		ST6 beta-galactosamide							81.0	97.0	91.0					2																	107459969		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459969C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.465G>A	2.37:g.107459969C>T						ST6GAL2_uc002tdr.2_Silent_p.E155E|ST6GAL2_uc002tds.3_Silent_p.E155E	p.E155E	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	584	-			155			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.465G>A	CCDS2073.1																																																																																				PASS	0.632	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		42	228	42	228	---	---	---	---
TSN	7247	broad.mit.edu	37	2	122522919	122522919	+	Silent	SNP	G	G	A	rs373327992		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:122522919G>A	ENST00000389682.3	+	6	910	c.663G>A	c.(661-663)acG>acA	p.T221T	TSN_ENST00000536142.1_3'UTR|TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Silent_p.T216T	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	221					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)	p.T221T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				ATAAGGAGACGGCAGCAGCTT	0.522																																						uc002tnl.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(661-663)ACG>ACA		translin		G		1,4405	2.1+/-5.4	0,1,2202	92.0	96.0	94.0		663	-5.0	0.6	2		94	0,8600		0,0,4300	no	coding-synonymous	TSN	NM_004622.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		221/229	122522919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122522919G>A	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.663G>A	2.37:g.122522919G>A						TSN_uc002tnm.2_Silent_p.T174T|TSN_uc010yze.1_3'UTR|TSN_uc010flt.2_RNA	p.T221T	NM_004622	NP_004613	Q15631	TSN_HUMAN			6	898	+		Ovarian(717;0.0563)|Prostate(154;0.116)	221					B7Z3X8|Q5U0K7	Silent	SNP	ENST00000389682.3	37	c.663G>A	CCDS33284.1																																																																																				PASS	0.522	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		4	97	4	97	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129026332	129026332	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:129026332G>A	ENST00000259241.6	-	2	653	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	214					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R214C(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GTGGGCGTGCGCCCATCACAC	0.647																																						uc002tpt.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(640-642)CGC>TGC		heparan sulfate 6-O-sulfotransferase 1							41.0	49.0	46.0					2																	129026332		2157	4254	6411	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026332G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.640C>T	2.37:g.129026332G>A	ENSP00000259241:p.Arg214Cys						p.R214C	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	674	-	Colorectal(110;0.1)		214			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.640C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273936	0.59649	.	.	ENSG00000136720	ENST00000259241	T	0.78126	-1.15	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90276	0.4311	9	.	.	.	.	13.8779	0.63665	0.0:0.0:0.8374:0.1626	.	214	O60243	H6ST1_HUMAN	C	214	ENSP00000259241:R214C	.	R	-	1	0	HS6ST1	128742802	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	5.098000	0.64548	2.235000	0.73313	0.462000	0.41574	CGC		PASS	0.647	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		5	130	5	130	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141108447	141108447	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:141108447C>G	ENST00000389484.3	-	77	12782	c.11811G>C	c.(11809-11811)tgG>tgC	p.W3937C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3937					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.W3937C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGAGTACTCCAAATAATCA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11809-11811)TGG>TGC		low density lipoprotein-related protein 1B							92.0	95.0	94.0					2																	141108447		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108447C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11811G>C	2.37:g.141108447C>G	ENSP00000374135:p.Trp3937Cys	TSP Lung(27;0.18)					p.W3937C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12783	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3937			Extracellular (Potential).|LDL-receptor class B 33.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11811G>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.303850|4.303850	0.81136|0.81136	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.91843	.|-2.92	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.151238	.|0.47852	.|D	.|0.000213	D|D	0.96620|0.96620	0.8897|0.8897	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.96802|0.96802	0.9590|0.9590	5|10	.|0.87932	.|D	.|0	.|.	19.706|19.706	0.96072|0.96072	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3937	.|Q9NZR2	.|LRP1B_HUMAN	A|C	169|3937;3875	.|ENSP00000374135:W3937C	.|ENSP00000374135:W3937C	G|W	-|-	2|3	0|0	LRP1B|LRP1B	140824917|140824917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.336000|7.336000	0.79245|0.79245	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	119	5	119	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152410492	152410492	+	Silent	SNP	G	G	A	rs113068669		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:152410492G>A	ENST00000172853.10	-	98	14520	c.14373C>T	c.(14371-14373)atC>atT	p.I4791I	NEB_ENST00000397345.3_Silent_p.I6492I|NEB_ENST00000604864.1_Silent_p.I6492I|NEB_ENST00000427231.2_Silent_p.I6492I|NEB_ENST00000409198.1_Silent_p.I4791I|NEB_ENST00000603639.1_Silent_p.I6492I			P20929	NEBU_HUMAN	nebulin	4791					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.I6492I(2)|p.I4791I(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCGGGCACGATGTGGATTT	0.458																																						uc010fnx.2																			4	Substitution - coding silent(4)		lung(4)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(14371-14373)ATC>ATT		nebulin isoform 3							186.0	177.0	180.0					2																	152410492		1932	4135	6067	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152410492G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14373C>T	2.37:g.152410492G>A						NEB_uc002txr.2_Silent_p.I1214I	p.I4791I	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	98	14564	-			4791			Nebulin 131.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.14373C>T																																																																																					PASS	0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	216	17	216	---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153530207	153530207	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:153530207T>C	ENST00000410080.1	-	11	1586	c.1045A>G	c.(1045-1047)Aaa>Gaa	p.K349E		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	376					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K245E(1)|p.K376E(1)|p.K349E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCCTCTTCTTTTTTGGGAGTA	0.284																																						uc002tyi.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1126-1128)AAA>GAA		formin binding protein 3							83.0	74.0	77.0					2																	153530207		1792	4064	5856	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153530207T>C	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1045A>G	2.37:g.153530207T>C	ENSP00000386458:p.Lys349Glu					PRPF40A_uc002tyh.3_Missense_Mutation_p.K349E|PRPF40A_uc010zcd.1_Missense_Mutation_p.K296E|PRPF40A_uc002tyj.2_Missense_Mutation_p.K245E	p.K376E	NM_017892	NP_060362	O75400	PR40A_HUMAN			11	1139	-			376					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.1126A>G	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712446	0.48517	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856	T	0.30182	1.54	5.44	5.44	0.79542	.	0.188644	0.56097	D	0.000029	T	0.14527	0.0351	N	0.11560	0.145	0.52099	D	0.999943	B;B	0.18013	0.024;0.025	B;B	0.15052	0.012;0.008	T	0.11743	-1.0575	10	0.08381	T	0.77	-23.1335	10.2055	0.43109	0.0:0.0745:0.0:0.9255	.	376;349	O75400;E9PFS0	PR40A_HUMAN;.	E	349;358;245;296;376	ENSP00000386458:K349E	ENSP00000348770:K358E	K	-	1	0	PRPF40A	153238453	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.708000	0.54845	2.199000	0.70637	0.533000	0.62120	AAA		PASS	0.284	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		4	46	4	46	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160287584	160287584	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:160287584C>G	ENST00000392783.2	-	10	2479	c.1984G>C	c.(1984-1986)Gat>Cat	p.D662H	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D660H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D662H|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	662	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D662H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCTTCAGTATCACTATCTGAT	0.378																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1984-1986)GAT>CAT		bromodomain adjacent to zinc finger domain, 2B							198.0	183.0	188.0					2																	160287584		1895	4106	6001	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287584C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1984G>C	2.37:g.160287584C>G	ENSP00000376534:p.Asp662His					BAZ2B_uc002uap.2_Missense_Mutation_p.D660H|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.D235H	p.D662H	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			10	2336	-			662			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1984G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175973	0.57692	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.10573	2.86;2.86;2.86	5.74	5.74	0.90152	.	0.000000	0.37906	U	0.001881	T	0.25901	0.0631	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.982;0.96	T	0.00436	-1.1740	10	0.54805	T	0.06	-15.7771	19.9194	0.97082	0.0:1.0:0.0:0.0	.	466;660;662	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	H	660;662;662	ENSP00000376533:D660H;ENSP00000376534:D662H;ENSP00000348087:D662H	ENSP00000348087:D662H	D	-	1	0	BAZ2B	159995830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.471000	0.73562	2.711000	0.92665	0.643000	0.83706	GAT		PASS	0.378	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			12	130	12	130	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160295564	160295564	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:160295564C>T	ENST00000392783.2	-	7	1351	c.856G>A	c.(856-858)Gat>Aat	p.D286N	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D284N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D286N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D284N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D286N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAATCAGAATCATCATCTTCA	0.333																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(856-858)GAT>AAT		bromodomain adjacent to zinc finger domain, 2B							282.0	257.0	265.0					2																	160295564		1897	4113	6010	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295564C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.856G>A	2.37:g.160295564C>T	ENSP00000376534:p.Asp286Asn					BAZ2B_uc002uap.2_Missense_Mutation_p.D284N|BAZ2B_uc002uas.1_Missense_Mutation_p.D223N|BAZ2B_uc002uau.1_Missense_Mutation_p.D284N|BAZ2B_uc002uaq.1_Missense_Mutation_p.D214N|BAZ2B_uc002uat.3_Missense_Mutation_p.D223N|BAZ2B_uc010fop.1_Missense_Mutation_p.D284N	p.D286N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			7	1208	-			286					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.856G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186962	0.57909	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.02	5.02	0.67125	.	0.000000	0.38164	U	0.001790	T	0.24392	0.0591	L	0.51422	1.61	0.35537	D	0.80275	D;D;D;P;P;P	0.71674	0.998;0.969;0.998;0.728;0.728;0.608	D;P;D;B;P;B	0.78314	0.991;0.785;0.991;0.349;0.447;0.205	T	0.09250	-1.0683	10	0.37606	T	0.19	-15.1745	18.3437	0.90314	0.0:1.0:0.0:0.0	.	284;223;286;284;284;286	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	N	284;286;286;284;223	ENSP00000376533:D284N;ENSP00000376534:D286N;ENSP00000348087:D286N;ENSP00000339670:D284N	ENSP00000339670:D284N	D	-	1	0	BAZ2B	160003810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.863000	0.75489	2.295000	0.77249	0.467000	0.42956	GAT		PASS	0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			12	180	12	180	---	---	---	---
B3GALT1	8708	broad.mit.edu	37	2	168726029	168726029	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:168726029G>A	ENST00000392690.3	+	1	572	c.480G>A	c.(478-480)atG>atA	p.M160I	B3GALT1_ENST00000305861.1_Missense_Mutation_p.M160I|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	160					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.M160I(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TAATGGGGATGAGATGGGTGG	0.383																																						uc002udz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(478-480)ATG>ATA		UDP-Gal:betaGlcNAc beta							81.0	79.0	80.0					2																	168726029		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726029G>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.480G>A	2.37:g.168726029G>A	ENSP00000376456:p.Met160Ile						p.M160I	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	831	+			160			Lumenal (Potential).		D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.480G>A	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345843	0.61073	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.41065	1.01;1.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.50389	-0.8834	10	0.42905	T	0.14	-29.8056	20.8794	0.99867	0.0:0.0:1.0:0.0	.	160	Q9Y5Z6	B3GT1_HUMAN	I	160	ENSP00000303740:M160I;ENSP00000376456:M160I	ENSP00000303740:M160I	M	+	3	0	B3GALT1	168434275	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.843000	0.86859	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.383	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		8	83	8	83	---	---	---	---
CDCA7	83879	broad.mit.edu	37	2	174231026	174231026	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:174231026C>G	ENST00000347703.3	+	7	958	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000306721.3_Missense_Mutation_p.Q351E|CDCA7_ENST00000410019.3_Missense_Mutation_p.Q230E|CDCA7_ENST00000410101.3_Missense_Mutation_p.Q307E	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	272	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q351E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TACTTGTCATCAATGCCGTCA	0.428																																						uc002uid.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)CAA>GAA		cell division cycle associated 7 isoform 2							76.0	79.0	78.0					2																	174231026		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174231026C>G	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.814C>G	2.37:g.174231026C>G	ENSP00000272789:p.Gln272Glu					CDCA7_uc002uic.1_Missense_Mutation_p.Q351E|CDCA7_uc010zej.1_Missense_Mutation_p.Q307E|CDCA7_uc010zek.1_Missense_Mutation_p.Q230E	p.Q272E	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		7	945	+			272			Mediates transcriptional activity.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.814C>G	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549409	0.86127	.	.	ENSG00000144354	ENST00000347703;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T	0.57752	0.55;0.38;0.46;0.56	5.67	5.67	0.87782	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.85539	0.1214	10	0.87932	D	0	-20.4191	19.773	0.96379	0.0:1.0:0.0:0.0	.	230;307;272;351	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	E	272;351;307;230	ENSP00000272789:Q272E;ENSP00000306968:Q351E;ENSP00000386656:Q307E;ENSP00000386833:Q230E	ENSP00000306968:Q351E	Q	+	1	0	CDCA7	173939272	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.789000	0.85783	2.677000	0.91161	0.655000	0.94253	CAA		PASS	0.428	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		5	169	5	169	---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180830638	180830638	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:180830638C>T	ENST00000410053.3	-	12	1581	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	CWC22_ENST00000295749.6_Missense_Mutation_p.E428K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	428	Poly-Glu.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.E428K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						tcctcttcttcttcctcgtcc	0.348																																						uc010frh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1282-1284)GAA>AAA		CWC22 spliceosome-associated protein homolog							90.0	87.0	88.0					2																	180830638		1882	4118	6000	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180830638C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1282G>A	2.37:g.180830638C>T	ENSP00000387006:p.Glu428Lys					CWC22_uc002unp.2_Missense_Mutation_p.E428K	p.E428K	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			12	1582	-			428			Poly-Glu.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.1282G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469346	0.63625	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.25250	2.1;2.31;1.81	5.59	5.59	0.84812	.	0.251570	0.44688	D	0.000434	T	0.38134	0.1029	M	0.87097	2.86	0.47737	D	0.999509	P	0.42078	0.77	B	0.37888	0.26	T	0.42616	-0.9441	10	0.38643	T	0.18	-4.8103	18.5622	0.91104	0.0:1.0:0.0:0.0	.	428	Q9HCG8	CWC22_HUMAN	K	428	ENSP00000387006:E428K;ENSP00000295749:E428K;ENSP00000384159:E428K	ENSP00000295749:E428K	E	-	1	0	CWC22	180538883	0.998000	0.40836	0.456000	0.27044	0.835000	0.47333	5.556000	0.67307	2.801000	0.96364	0.650000	0.86243	GAA		PASS	0.348	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		6	42	6	42	---	---	---	---
TMEFF2	23671	broad.mit.edu	37	2	193059101	193059101	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:193059101C>T	ENST00000272771.5	-	1	1334	c.150G>A	c.(148-150)acG>acA	p.T50T	TMEFF2_ENST00000409056.3_Silent_p.T50T|TMEFF2_ENST00000392314.1_Silent_p.T50T	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	50						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.T50T(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGCCGGTGGGCGTTTGGCAGT	0.592																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(148-150)ACG>ACA		transmembrane protein with EGF-like and two							78.0	82.0	81.0					2																	193059101		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193059101C>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.150G>A	2.37:g.193059101C>T						TMEFF2_uc002utd.1_Silent_p.T50T	p.T50T	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		1	544	-			50			Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.150G>A	CCDS2314.1																																																																																				PASS	0.592	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		10	134	10	134	---	---	---	---
RFTN2	130132	broad.mit.edu	37	2	198482601	198482601	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:198482601C>G	ENST00000295049.4	-	6	1509	c.973G>C	c.(973-975)Gaa>Caa	p.E325Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	325					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.E325Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GAACCTTCTTCTTCATAGATA	0.388																																						uc002uuo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(973-975)GAA>CAA		raftlin family member 2							90.0	87.0	88.0					2																	198482601		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198482601C>G	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.973G>C	2.37:g.198482601C>G	ENSP00000295049:p.Glu325Gln						p.E325Q	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			6	1375	-			325					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.973G>C	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354801	0.82243	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.38077	1.16;1.16	5.65	5.65	0.86999	.	0.106936	0.64402	D	0.000005	T	0.46889	0.1416	M	0.63843	1.955	0.54753	D	0.999988	P	0.51537	0.946	P	0.48677	0.586	T	0.35699	-0.9778	10	0.39692	T	0.17	-29.8448	17.9203	0.88964	0.0:1.0:0.0:0.0	.	325	Q52LD8	RFTN2_HUMAN	Q	325;7	ENSP00000295049:E325Q;ENSP00000387459:E7Q	ENSP00000295049:E325Q	E	-	1	0	RFTN2	198190846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.294000	0.72738	2.660000	0.90430	0.655000	0.94253	GAA		PASS	0.388	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		7	94	7	94	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207171375	207171375	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:207171375C>G	ENST00000374423.3	+	5	2509	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	708							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S708C(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTCTGAGTTCTGATTCTCCG	0.408																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2122-2124)TCT>TGT		zinc finger, DBF-type containing 2							73.0	72.0	72.0					2																	207171375		1857	4102	5959	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171375C>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2123C>G	2.37:g.207171375C>G	ENSP00000363545:p.Ser708Cys						p.S708C	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2373	+			708					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2123C>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	8.452	0.853249	0.17106	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.4	0.497	0.16902	.	0.594424	0.14080	N	0.342806	T	0.32615	0.0835	L	0.29908	0.895	0.21604	N	0.999621	P	0.52316	0.952	P	0.48189	0.57	T	0.13926	-1.0491	10	0.38643	T	0.18	.	6.4979	0.22152	0.0:0.3083:0.0:0.6917	.	708	Q9HCK1	ZDBF2_HUMAN	C	708	ENSP00000363545:S708C	ENSP00000363545:S708C	S	+	2	0	ZDBF2	206879620	1.000000	0.71417	0.885000	0.34714	0.011000	0.07611	0.530000	0.23036	0.081000	0.16988	-0.136000	0.14681	TCT		PASS	0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		11	68	11	68	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207173250	207173250	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:207173250C>T	ENST00000374423.3	+	5	4384	c.3998C>T	c.(3997-3999)tCa>tTa	p.S1333L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1333							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1333L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTATGTTTCAAATATCCCT	0.383																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3997-3999)TCA>TTA		zinc finger, DBF-type containing 2							54.0	53.0	54.0					2																	207173250		1848	4082	5930	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173250C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3998C>T	2.37:g.207173250C>T	ENSP00000363545:p.Ser1333Leu						p.S1333L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	4248	+			1333					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3998C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128639	0.94473	.	.	ENSG00000204186	ENST00000374423	T	0.57436	0.4	4.22	4.22	0.49857	.	.	.	.	.	T	0.60457	0.2270	M	0.61703	1.905	0.09310	N	0.999997	P	0.51057	0.941	P	0.51895	0.683	T	0.53655	-0.8408	9	0.54805	T	0.06	.	12.3964	0.55386	0.0:1.0:0.0:0.0	.	1333	Q9HCK1	ZDBF2_HUMAN	L	1333	ENSP00000363545:S1333L	ENSP00000363545:S1333L	S	+	2	0	ZDBF2	206881495	0.333000	0.24731	0.264000	0.24511	0.918000	0.54935	3.018000	0.49625	2.625000	0.88918	0.650000	0.86243	TCA		PASS	0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	69	4	69	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227663295	227663295	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:227663295G>A	ENST00000305123.5	-	1	1180	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	54	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R54W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GACTTGTGCCGCCACTTCTTC	0.607																																						uc002voh.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(160-162)CGG>TGG		insulin receptor substrate 1							69.0	85.0	80.0					2																	227663295		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663295G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.160C>T	2.37:g.227663295G>A	ENSP00000304895:p.Arg54Trp						p.R54W	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	212	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	54			PH.|Mediates interaction with PHIP (By similarity).			Missense_Mutation	SNP	ENST00000305123.5	37	c.160C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431685	0.43122	.	.	ENSG00000169047	ENST00000305123	T	0.73047	-0.71	5.49	3.35	0.38373	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.56097	D	0.000029	D	0.83585	0.5286	M	0.88842	2.985	0.49389	D	0.999785	D	0.89917	1.0	D	0.63957	0.92	D	0.86154	0.1589	10	0.62326	D	0.03	-19.9032	11.8461	0.52385	0.0:0.0:0.4393:0.5607	.	54	P35568	IRS1_HUMAN	W	54	ENSP00000304895:R54W	ENSP00000304895:R54W	R	-	1	2	IRS1	227371539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.092000	0.41700	1.399000	0.46721	0.561000	0.74099	CGG		PASS	0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		23	127	23	127	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227917019	227917019	+	Splice_Site	SNP	A	A	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:227917019A>T	ENST00000396625.3	-	32	3176		c.e32+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTAAGTGTTTACCTCTTTCTC	0.408																																						uc010zlt.1																			1	Unknown(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.e32+1		alpha 4 type IV collagen precursor							80.0	78.0	78.0					2																	227917019		1843	4089	5932	SO:0001630	splice_region_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227917019A>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2968+1T>A	2.37:g.227917019A>T							p.G990_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	32	3622	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)						A8MTZ1|Q53RW9|Q53S42|Q53WR1	Splice_Site	SNP	ENST00000396625.3	37	c.2968_splice	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339568	0.60963	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.07	0.59055	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A4	227625263	1.000000	0.71417	0.991000	0.47740	0.764000	0.43329	4.233000	0.58651	2.111000	0.64477	0.455000	0.32223	.		PASS	0.408	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Intron	9	45	9	45	---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231948391	231948391	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:231948391C>T	ENST00000308696.6	+	14	1798	c.1636C>T	c.(1636-1638)Cgt>Tgt	p.R546C	PSMD1_ENST00000373635.4_Missense_Mutation_p.R546C|PSMD1_ENST00000409643.1_Missense_Mutation_p.R546C	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	546					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.R546C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GAAGATTCTGCGTGGTCTTGC	0.458																																						uc002vrn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1636-1638)CGT>TGT		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						232.0	205.0	214.0					2																	231948391		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231948391C>T	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1636C>T	2.37:g.231948391C>T	ENSP00000309474:p.Arg546Cys					PSMD1_uc002vrm.1_Missense_Mutation_p.R546C|PSMD1_uc010fxu.1_Missense_Mutation_p.R410C	p.R546C	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	14	1767	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	546					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1636C>T	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230476	0.79688	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.33865	1.39;1.39;1.39	5.93	5.06	0.68205	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.77373	-0.2612	10	0.87932	D	0	-12.0246	9.9989	0.41916	0.1372:0.7939:0.0:0.0689	.	546;546	Q99460;Q99460-2	PSMD1_HUMAN;.	C	546	ENSP00000309474:R546C;ENSP00000362738:R546C;ENSP00000386932:R546C	ENSP00000309474:R546C	R	+	1	0	PSMD1	231656635	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.783000	0.68982	1.517000	0.48917	-0.140000	0.14226	CGT		PASS	0.458	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			5	99	5	99	---	---	---	---
ILKAP	80895	broad.mit.edu	37	2	239092332	239092332	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:239092332C>A	ENST00000254654.3	-	8	851	c.676G>T	c.(676-678)Gac>Tac	p.D226Y		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	226	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D226Y(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		AGAATGTTGTCTACAGCCAGA	0.493																																						uc002vxv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(676-678)GAC>TAC		integrin-linked kinase-associated protein							63.0	58.0	60.0					2																	239092332		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239092332C>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.676G>T	2.37:g.239092332C>A	ENSP00000254654:p.Asp226Tyr					ILKAP_uc010zns.1_Missense_Mutation_p.D158Y|ILKAP_uc002vxw.2_Missense_Mutation_p.D106Y|ILKAP_uc010znt.1_Missense_Mutation_p.D106Y	p.D226Y	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	8	806	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	226			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.676G>T	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578625	0.86645	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	T;T	0.10960	2.82;2.82	5.42	5.42	0.78866	Protein phosphatase 2C-like (5);	0.045645	0.85682	D	0.000000	T	0.39145	0.1067	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.34502	-0.9826	10	0.72032	D	0.01	-1.089	18.002	0.89200	0.0:1.0:0.0:0.0	.	226	Q9H0C8	ILKAP_HUMAN	Y	226;43	ENSP00000254654:D226Y;ENSP00000406254:D43Y	ENSP00000254654:D226Y	D	-	1	0	ILKAP	238757071	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.448000	0.73469	2.549000	0.85964	0.655000	0.94253	GAC		PASS	0.493	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		6	91	6	91	---	---	---	---
STK25	10494	broad.mit.edu	37	2	242438156	242438156	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:242438156C>T	ENST00000316586.4	-	8	1164	c.815G>A	c.(814-816)cGc>cAc	p.R272H	STK25_ENST00000401869.1_Missense_Mutation_p.R272H|STK25_ENST00000403346.3_Missense_Mutation_p.R272H|STK25_ENST00000405883.3_Missense_Mutation_p.R195H|STK25_ENST00000543554.1_Missense_Mutation_p.R178H|STK25_ENST00000535007.1_Missense_Mutation_p.R178H|STK25_ENST00000405585.1_Missense_Mutation_p.R195H|STK25_ENST00000478403.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	272					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R272H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTGGTGTAGCGTGTGATGAA	0.602																																					NSCLC(99;1100 1566 7679 28647 48345)	uc002wbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(814-816)CGC>CAC		serine/threonine kinase 25							168.0	143.0	152.0					2																	242438156		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438156C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.815G>A	2.37:g.242438156C>T	ENSP00000325748:p.Arg272His					STK25_uc002wbk.2_Missense_Mutation_p.R91H|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.R272H|STK25_uc002wbo.2_Missense_Mutation_p.R195H|STK25_uc010zos.1_Missense_Mutation_p.R178H|STK25_uc010zot.1_Missense_Mutation_p.R198H|STK25_uc002wbp.2_Missense_Mutation_p.R272H|STK25_uc010fzo.2_Missense_Mutation_p.R195H|STK25_uc010zou.1_Missense_Mutation_p.R178H|STK25_uc010zov.1_Missense_Mutation_p.R178H	p.R272H	NM_006374	NP_006365	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	1086	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	272					A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.815G>A	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.151820|5.151820	0.94645|0.94645	.|.	.|.	ENSG00000115694|ENSG00000115694	ENST00000423004|ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	.|T;T;T;T;T;T;T	.|0.24908	.|1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.19|5.19	4.31|4.31	0.51392|0.51392	.|Protein kinase-like domain (1);	.|0.058884	.|0.64402	.|D	.|0.000002	T|T	0.40694|0.40694	0.1127|0.1127	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.69078	.|0.86;0.997;0.916	.|B;P;B	.|0.47915	.|0.075;0.561;0.331	T|T	0.53337|0.53337	-0.8453|-0.8453	5|10	.|0.87932	.|D	.|0	.|.	14.2377|14.2377	0.65937|0.65937	0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725	.|.	.|198;195;272	.|B4DVS7;A8K6Z3;O00506	.|.;.;STK25_HUMAN	T|H	154|272;272;272;195;178;195;178;178	.|ENSP00000325748:R272H;ENSP00000384162:R272H;ENSP00000385687:R272H;ENSP00000384444:R195H;ENSP00000385541:R195H;ENSP00000444886:R178H;ENSP00000446008:R178H	.|ENSP00000325748:R272H	A|R	-|-	1|2	0|0	STK25|STK25	242086829|242086829	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.982000|0.982000	0.71751|0.71751	7.633000|7.633000	0.83260|0.83260	1.323000|1.323000	0.45263|0.45263	0.655000|0.655000	0.94253|0.94253	GCT|CGC		PASS	0.602	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		12	157	12	157	---	---	---	---
D2HGDH	728294	broad.mit.edu	37	2	242681886	242681886	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr2:242681886G>T	ENST00000321264.4	+	4	596	c.387G>T	c.(385-387)caG>caT	p.Q129H	D2HGDH_ENST00000342518.6_Missense_Mutation_p.Q129H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.Q129H|D2HGDH_ENST00000403782.1_5'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	129	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.Q129H(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGAACCCACAGGGGGGCAACA	0.642																																						uc002wce.1																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)CAG>CAT		D-2-hydroxyglutarate dehydrogenase precursor							70.0	53.0	59.0					2																	242681886		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242681886G>T	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.387G>T	2.37:g.242681886G>T	ENSP00000315351:p.Gln129His					D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Translation_Start_Site|D2HGDH_uc002wcg.1_RNA	p.Q129H	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	560	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	129			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.387G>T	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674111	0.67928	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000342518;ENST00000437164	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	5.06	3.22	0.36961	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97739	1.0207	10	0.87932	D	0	.	10.5267	0.44952	0.2081:0.0:0.7919:0.0	.	129	Q8N465	D2HDH_HUMAN	H	129;129;129;13	ENSP00000442796:Q129H;ENSP00000315351:Q129H;ENSP00000339536:Q129H;ENSP00000412511:Q13H	ENSP00000315351:Q129H	Q	+	3	2	D2HGDH	242330559	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.383000	0.34385	2.362000	0.80069	0.555000	0.69702	CAG		PASS	0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		8	40	8	40	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9101998	9101998	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:9101998G>A	ENST00000383836.3	-	6	1145	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.R240W	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	240	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R240W(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TAGTCATTCCGGGCCTTTGTG	0.483			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(718-720)CGG>TGG		SLIT-ROBO Rho GTPase activating protein 3							218.0	191.0	200.0					3																	9101998		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9101998G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.718C>T	3.37:g.9101998G>A	ENSP00000373347:p.Arg240Trp					SRGAP3_uc003brg.1_Missense_Mutation_p.R240W|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.R240W|SRGAP3_uc003brj.1_Missense_Mutation_p.R100W	p.R240W	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	6	1394	-			240					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.718C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929066	0.73327	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.16457	2.34;2.34	5.27	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.999	D;P;D;D	0.79784	0.993;0.793;0.968;0.93	T	0.56860	-0.7909	10	0.87932	D	0	.	12.1222	0.53897	0.0:0.0:0.5341:0.4659	.	240;109;240;240	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	W	240;240;120	ENSP00000373347:R240W;ENSP00000353587:R240W	ENSP00000353587:R240W	R	-	1	2	SRGAP3	9076998	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.132000	0.42083	1.177000	0.42855	0.460000	0.39030	CGG		PASS	0.483	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			5	126	5	126	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9788039	9788039	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:9788039C>A	ENST00000457855.1	+	12	3373	c.3362C>A	c.(3361-3363)cCt>cAt	p.P1121H	BRPF1_ENST00000383829.2_Missense_Mutation_p.P1127H|BRPF1_ENST00000424362.1_Missense_Mutation_p.P1120H|BRPF1_ENST00000302054.3_Missense_Mutation_p.P1121H|BRPF1_ENST00000433861.2_Missense_Mutation_p.P1026H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1121	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1127H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTTCCCATCCCTGTGCCCCCA	0.527																																						uc003bse.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3361-3363)CCT>CAT		bromodomain and PHD finger-containing protein 1							93.0	93.0	93.0					3																	9788039		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788039C>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3362C>A	3.37:g.9788039C>A	ENSP00000410210:p.Pro1121His					BRPF1_uc003bsf.2_Missense_Mutation_p.P1127H|BRPF1_uc003bsg.2_Missense_Mutation_p.P1120H|BRPF1_uc011ati.1_Missense_Mutation_p.P1026H	p.P1121H	NM_004634	NP_004625	P55201	BRPF1_HUMAN			13	3761	+	Medulloblastoma(99;0.227)		1121			PWWP.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3362C>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574813	0.86542	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	6.06	6.06	0.98353	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.997;0.997;0.998	T	0.60485	-0.7254	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1026;1120;1127;1121	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	1026;1120;1127;1121;1121	ENSP00000402485:P1026H;ENSP00000398863:P1120H;ENSP00000373340:P1127H;ENSP00000306297:P1121H;ENSP00000410210:P1121H	ENSP00000306297:P1121H	P	+	2	0	BRPF1	9763039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CCT		PASS	0.527	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		7	128	7	128	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10413690	10413690	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:10413690C>G	ENST00000352432.4	-	11	1531	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	ATP2B2_ENST00000397077.1_Missense_Mutation_p.E443Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	488					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.E443Q(1)|p.E488Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCATGGTCTCACAGGCATCC	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1462-1464)GAG>CAG		plasma membrane calcium ATPase 2 isoform 1							173.0	149.0	157.0					3																	10413690		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413690C>G	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1462G>C	3.37:g.10413690C>G	ENSP00000324172:p.Glu488Gln					ATP2B2_uc003bvv.2_Missense_Mutation_p.E443Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.E443Q|ATP2B2_uc010hdo.2_Missense_Mutation_p.E193Q	p.E488Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			12	1901	-			488			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1462G>C	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011709	0.75046	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	4.71	4.71	0.59529	ATPase, P-type, cytoplasmic domain N (1);ATPase, P-type, ATPase-associated domain (1);	0.105377	0.64402	D	0.000005	D	0.98346	0.9451	H	0.97516	4.02	0.80722	D	1	B;D;D	0.69078	0.119;0.997;0.991	B;D;D	0.75484	0.067;0.986;0.963	D	0.99793	1.1032	10	0.87932	D	0	-15.1601	17.8685	0.88803	0.0:1.0:0.0:0.0	.	423;455;488	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	488;443;443;488;474;423;344;488	ENSP00000324172:E488Q;ENSP00000373311:E443Q;ENSP00000380267:E443Q;ENSP00000353414:E488Q;ENSP00000344677:E474Q;ENSP00000414854:E344Q	ENSP00000342954:E488Q	E	-	1	0	ATP2B2	10388690	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	7.568000	0.82369	2.443000	0.82685	0.655000	0.94253	GAG		PASS	0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		12	85	12	85	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37061819	37061819	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:37061819G>A	ENST00000231790.2	+	11	1119	c.903G>A	c.(901-903)caG>caA	p.Q301Q	MLH1_ENST00000435176.1_Silent_p.Q203Q|MLH1_ENST00000458205.2_Silent_p.Q60Q|MLH1_ENST00000455445.2_Silent_p.Q60Q|MLH1_ENST00000539477.1_Silent_p.Q60Q|MLH1_ENST00000536378.1_Silent_p.Q60Q	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	301					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)|p.Q301Q(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCAGTCCCCAGAATGTGGATG	0.493		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		2	Whole gene deletion(1)|Substitution - coding silent(1)	p.0?(1)	ovary(1)|lung(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(901-903)CAG>CAA	MMR	MutL protein homolog 1							104.0	103.0	103.0					3																	37061819		2203	4300	6503	SO:0001819	synonymous_variant	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37061819G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.903G>A	3.37:g.37061819G>A						MLH1_uc011aye.1_Silent_p.Q60Q|MLH1_uc011ayb.1_Silent_p.Q60Q|MLH1_uc010hge.2_Silent_p.Q301Q|MLH1_uc003cgn.3_Silent_p.Q60Q|MLH1_uc011ayc.1_Silent_p.Q203Q|MLH1_uc011ayd.1_Silent_p.Q60Q|MLH1_uc003cgo.2_Silent_p.Q60Q|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_Intron|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_5'UTR	p.Q301Q	NM_000249	NP_000240	P40692	MLH1_HUMAN			11	963	+			301					B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	c.903G>A	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	9.239	1.037821	0.19669	.	.	ENSG00000076242	ENST00000456676	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.63803	0.2542	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61352	-0.7080	4	.	.	.	-17.9533	11.3504	0.49585	0.14:0.0:0.86:0.0	.	.	.	.	K	293	.	.	R	+	2	0	MLH1	37036823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.510000	0.45468	2.718000	0.92993	0.655000	0.94253	AGA		PASS	0.493	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		12	103	12	103	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37061853	37061853	+	Nonsense_Mutation	SNP	G	G	T	rs63751259		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:37061853G>T	ENST00000231790.2	+	11	1153	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	MLH1_ENST00000435176.1_Nonsense_Mutation_p.E215*|MLH1_ENST00000458205.2_Nonsense_Mutation_p.E72*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.E72*|MLH1_ENST00000539477.1_Nonsense_Mutation_p.E72*|MLH1_ENST00000536378.1_Nonsense_Mutation_p.E72*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	313					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.E313*(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CACAAAGCATGAAGTTCACTT	0.502		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		2	Substitution - Nonsense(1)|Whole gene deletion(1)	p.0?(1)	ovary(1)|lung(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(937-939)GAA>TAA	MMR	MutL protein homolog 1							106.0	103.0	104.0					3																	37061853		2203	4300	6503	SO:0001587	stop_gained	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37061853G>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.937G>T	3.37:g.37061853G>T	ENSP00000231790:p.Glu313*					MLH1_uc011aye.1_Nonsense_Mutation_p.E72*|MLH1_uc011ayb.1_Nonsense_Mutation_p.E72*|MLH1_uc010hge.2_Nonsense_Mutation_p.E313*|MLH1_uc003cgn.3_Nonsense_Mutation_p.E72*|MLH1_uc011ayc.1_Nonsense_Mutation_p.E215*|MLH1_uc011ayd.1_Nonsense_Mutation_p.E72*|MLH1_uc003cgo.2_Nonsense_Mutation_p.E72*|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_Intron|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_Missense_Mutation_p.M11I	p.E313*	NM_000249	NP_000240	P40692	MLH1_HUMAN			11	997	+			313					B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	c.937G>T	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.480871|9.480871	0.99183|0.99183	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378|ENST00000456676	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80048	.|0.4552	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77797	.|-0.2453	.|3	0.87932|.	D|.	0|.	-20.3185|-20.3185	19.9664|19.9664	0.97271|0.97271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	313;279;177;72;72;72;215;72;72|304	.|.	ENSP00000231790:E313X|.	E|M	+|+	1|3	0|0	MLH1|MLH1	37036857|37036857	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.996000|0.996000	0.88848|0.88848	9.387000|9.387000	0.97232|0.97232	2.718000|2.718000	0.92993|0.92993	0.655000|0.655000	0.94253|0.94253	GAA|ATG		PASS	0.502	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		13	91	13	91	---	---	---	---
EIF1B	10289	broad.mit.edu	37	3	40352450	40352450	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:40352450T>C	ENST00000232905.3	+	2	356	c.98T>C	c.(97-99)aTa>aCa	p.I33T	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	33					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.I33T(1)		central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TACATTCATATAAGAATCCAG	0.403																																						uc003ckc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)ATA>ACA		translation factor sui1 homolog							60.0	60.0	60.0					3																	40352450		2203	4300	6503	SO:0001583	missense	10289				regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40352450T>C	BC006996	CCDS2690.1	3p22.1	2006-02-03			ENSG00000114784	ENSG00000114784			30792	protein-coding gene	gene with protein product						7904817	Standard	NM_005875		Approved	GC20	uc003ckc.3	O60739	OTTHUMG00000131388	ENST00000232905.3:c.98T>C	3.37:g.40352450T>C	ENSP00000232905:p.Ile33Thr					uc003ckb.2_5'Flank	p.I33T	NM_005875	NP_005866	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	2	358	+			33					Q9UQF8	Missense_Mutation	SNP	ENST00000232905.3	37	c.98T>C	CCDS2690.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260442	0.80246	.	.	ENSG00000114784	ENST00000232905	T	0.51817	0.69	6.17	6.17	0.99709	Translation initiation factor SUI1 (3);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	H	0.97440	4.005	0.80722	D	1	D	0.63880	0.993	D	0.71870	0.975	D	0.86353	0.1712	10	0.72032	D	0.01	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	33	O60739	EIF1B_HUMAN	T	33	ENSP00000232905:I33T	ENSP00000232905:I33T	I	+	2	0	EIF1B	40327454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.008000	0.88588	2.371000	0.80710	0.533000	0.62120	ATA		PASS	0.403	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1	NM_005875		13	59	13	59	---	---	---	---
CDCP1	64866	broad.mit.edu	37	3	45132780	45132780	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:45132780G>A	ENST00000296129.1	-	7	2012	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	626						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L626L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTGGCTTGGGGAGCACATCCT	0.602																																						uc003com.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1876-1878)CTC>CTT		CUB domain-containing protein 1 isoform 1							111.0	103.0	106.0					3																	45132780		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132780G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1878C>T	3.37:g.45132780G>A							p.L626L	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	7	2013	-			626			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.1878C>T	CCDS2727.1																																																																																				PASS	0.602	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		11	115	11	115	---	---	---	---
CDCP1	64866	broad.mit.edu	37	3	45153706	45153706	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:45153706C>T	ENST00000296129.1	-	3	658	c.524G>A	c.(523-525)gGa>gAa	p.G175E	CDCP1_ENST00000425231.2_Missense_Mutation_p.G175E|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	175						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G175E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCAGAAGGTTCCGATCCTGAC	0.587																																						uc003com.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(523-525)GGA>GAA		CUB domain-containing protein 1 isoform 1							162.0	150.0	154.0					3																	45153706		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153706C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.524G>A	3.37:g.45153706C>T	ENSP00000296129:p.Gly175Glu					CDCP1_uc003con.2_Missense_Mutation_p.G175E	p.G175E	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	3	659	-			175			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.524G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278756	0.80692	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;D	0.91295	-0.55;-2.82	5.42	5.42	0.78866	.	0.101148	0.64402	D	0.000002	D	0.95140	0.8425	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95386	0.8477	10	0.87932	D	0	.	19.2129	0.93765	0.0:1.0:0.0:0.0	.	175;175	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	E	175	ENSP00000296129:G175E;ENSP00000399342:G175E	ENSP00000296129:G175E	G	-	2	0	CDCP1	45128710	1.000000	0.71417	0.803000	0.32268	0.664000	0.39144	6.013000	0.70776	2.537000	0.85549	0.563000	0.77884	GGA		PASS	0.587	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		31	121	31	121	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66431074	66431074	+	Silent	SNP	C	C	T	rs148872922	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:66431074C>T	ENST00000273261.3	-	18	3506	c.2982G>A	c.(2980-2982)tcG>tcA	p.S994S	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Silent_p.S971S	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	994					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.S994S(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)		TGGGGTAGAGCGACCCTTGGC	0.557													C|||	3	0.000599042	0.0	0.0043	5008	,	,		19804	0.0		0.0	False		,,,				2504	0.0					uc003dmx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(2980-2982)TCG>TCA		leucine-rich repeats and immunoglobulin-like		C		1,4405	2.1+/-5.4	0,1,2202	116.0	123.0	120.0		2982	2.3	1.0	3	dbSNP_134	120	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	LRIG1	NM_015541.2		0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615		994/1094	66431074	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66431074C>T	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.2982G>A	3.37:g.66431074C>T						SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Silent_p.S614S|LRIG1_uc003dmw.2_Silent_p.S660S|LRIG1_uc010hnz.2_Silent_p.S710S|LRIG1_uc010hoa.2_Silent_p.S971S	p.S994S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	18	2996	-		Lung NSC(201;0.0101)	994			Cytoplasmic (Potential).		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.2982G>A	CCDS33783.1																																																																																				PASS	0.557	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	227	7	227	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100949881	100949881	+	Silent	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:100949881G>T	ENST00000193391.7	-	16	3529	c.3342C>A	c.(3340-3342)gtC>gtA	p.V1114V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1114					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.V1114V(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CAGAAAAGATGACAAGAAGTC	0.478																																						uc003duq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(3340-3342)GTC>GTA		interphotoreceptor matrix proteoglycan 2							220.0	199.0	206.0					3																	100949881		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100949881G>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3342C>A	3.37:g.100949881G>T						IMPG2_uc011bhe.1_Silent_p.V977V|IMPG2_uc010hpj.1_Intron	p.V1114V	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			16	3545	-			1114			Helical; (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.3342C>A	CCDS2940.1																																																																																				PASS	0.478	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			20	220	20	220	---	---	---	---
QTRTD1	79691	broad.mit.edu	37	3	113804605	113804605	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:113804605C>T	ENST00000493014.1	+	6	852	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	QTRTD1_ENST00000479882.1_Silent_p.L245L|QTRTD1_ENST00000281273.4_Silent_p.L368L|QTRTD1_ENST00000485050.1_Silent_p.L380L	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1									p.L368L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CCACCATCTGCTGGTGACCAA	0.473																																						uc003eay.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1102-1104)CTG>TTG		queuine tRNA-ribosyltransferase domain							204.0	174.0	184.0					3																	113804605		2203	4300	6503	SO:0001819	synonymous_variant	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113804605C>T	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.784C>T	3.37:g.113804605C>T						QTRTD1_uc003eaz.2_Silent_p.L380L|QTRTD1_uc011biq.1_Silent_p.L245L|QTRTD1_uc011bir.1_Silent_p.L262L	p.L368L	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN			10	1332	+			368						Silent	SNP	ENST00000493014.1	37	c.1102C>T	CCDS58845.1																																																																																				PASS	0.473	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		12	267	12	267	---	---	---	---
TMEM39A	55254	broad.mit.edu	37	3	119153616	119153616	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:119153616C>T	ENST00000319172.5	-	8	1646	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	409						integral component of membrane (GO:0016021)		p.R409H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TGCATAAAAGCGGGCATGAGA	0.468																																						uc003eck.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1225-1227)CGC>CAC		transmembrane protein 39A							126.0	125.0	126.0					3																	119153616		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119153616C>T	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1226G>A	3.37:g.119153616C>T	ENSP00000326063:p.Arg409His					TMEM39A_uc003ecl.1_Missense_Mutation_p.R257H	p.R409H	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	8	1589	-			409					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.1226G>A	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485249	0.84854	.	.	ENSG00000176142	ENST00000319172	T	0.52983	0.64	4.77	4.77	0.60923	.	0.056461	0.64402	D	0.000005	T	0.70718	0.3256	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75399	-0.3331	10	0.87932	D	0	-11.9937	17.3349	0.87277	0.0:1.0:0.0:0.0	.	409	Q9NV64	TM39A_HUMAN	H	409	ENSP00000326063:R409H	ENSP00000326063:R409H	R	-	2	0	TMEM39A	120636306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.636000	0.89361	0.655000	0.94253	CGC		PASS	0.468	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		11	193	11	193	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129303326	129303326	+	Missense_Mutation	SNP	C	C	T	rs139388919	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:129303326C>T	ENST00000324093.4	-	6	2109	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R644H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	644					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R644H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGCCACAGTGCGGATGTTGTT	0.637													C|||	4	0.000798722	0.0008	0.0	5008	,	,		20044	0.003		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1930-1932)CGC>CAC		plexin D1 precursor		C	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	82.0	77.0	79.0		1931	1.2	0.8	3	dbSNP_134	79	0,8600		0,0,4300	yes	missense	PLXND1	NM_015103.2	29	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	benign	644/1926	129303326	11,12995	2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303326C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1931G>A	3.37:g.129303326C>T	ENSP00000317128:p.Arg644His						p.R644H	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			6	2031	-			644			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1931G>A	CCDS33854.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.403	0.259484	0.10239	0.002497	0.0	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.34472	1.41;1.36	4.77	1.23	0.21249	.	0.776646	0.12321	N	0.479280	T	0.15132	0.0365	N	0.08118	0	0.23994	N	0.996231	B	0.06786	0.001	B	0.01281	0.0	T	0.19614	-1.0300	10	0.28530	T	0.3	.	2.9263	0.05785	0.2003:0.3346:0.0:0.465	.	644	Q9Y4D7	PLXD1_HUMAN	H	644	ENSP00000317128:R644H;ENSP00000376931:R644H	ENSP00000317128:R644H	R	-	2	0	PLXND1	130786016	0.023000	0.18921	0.793000	0.32043	0.040000	0.13550	-0.945000	0.03909	0.479000	0.27511	-0.219000	0.12488	CGC		PASS	0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		6	120	6	120	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130282153	130282153	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:130282153C>T	ENST00000358511.6	+	2	337	c.306C>T	c.(304-306)ggC>ggT	p.G102G	COL6A6_ENST00000453409.2_Silent_p.G102G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	102	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G102G(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GATTCATTGGCGGGTCCCTGC	0.498																																						uc010htl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(304-306)GGC>GGT		collagen type VI alpha 6 precursor							41.0	41.0	41.0					3																	130282153		1848	4081	5929	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282153C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.306C>T	3.37:g.130282153C>T							p.G102G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	337	+			102			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.306C>T	CCDS46911.1																																																																																				PASS	0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		10	43	10	43	---	---	---	---
KY	339855	broad.mit.edu	37	3	134322712	134322712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:134322712C>T	ENST00000423778.2	-	11	1756	c.1695G>A	c.(1693-1695)tgG>tgA	p.W565*	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Nonsense_Mutation_p.W544*	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.W565*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGAACATGGGCCAGTTCACCT	0.493																																						uc010hty.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1693-1695)TGG>TGA		kyphoscoliosis peptidase							68.0	67.0	67.0					3																	134322712		1974	4164	6138	SO:0001587	stop_gained	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322712C>T	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1695G>A	3.37:g.134322712C>T	ENSP00000397598:p.Trp565*					KY_uc011blw.1_3'UTR|KY_uc011blx.1_Nonsense_Mutation_p.W544*	p.W565*	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			11	1757	-			Error:Variant_position_missing_in_Q8NBH2_after_alignment					B7Z1S4|Q6ZT15	Nonsense_Mutation	SNP	ENST00000423778.2	37	c.1695G>A	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	C	37	6.114821	0.97296	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	.	.	.	X	544;565	.	ENSP00000397598:W565X	W	-	3	0	KY	135805402	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.677000	0.68142	2.768000	0.95171	0.561000	0.74099	TGG		PASS	0.493	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		4	73	4	73	---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142841021	142841021	+	Missense_Mutation	SNP	G	G	T	rs375444455		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:142841021G>T	ENST00000309575.3	+	2	2747	c.1363G>T	c.(1363-1365)Gcc>Tcc	p.A455S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	455					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.A455S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GGAGCAGTTTGCCCTGAACAT	0.612																																						uc003evm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1363-1365)GCC>TCC		carbohydrate (N-acetylglucosamine-6-O)		G	SER/ALA	0,4406		0,0,2203	67.0	60.0	62.0		1363	4.5	1.0	3		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHST2	NM_004267.4	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	455/531	142841021	1,13005	2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841021G>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1363G>T	3.37:g.142841021G>T	ENSP00000307911:p.Ala455Ser						p.A455S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2252	+			455			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1363G>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749526	0.49257	0.0	1.16E-4	ENSG00000175040	ENST00000309575	T	0.79845	-1.31	4.46	4.46	0.54185	Sulfotransferase domain (1);	0.236566	0.35525	N	0.003151	T	0.77191	0.4094	M	0.66939	2.045	0.35298	D	0.782788	P	0.44139	0.827	B	0.42030	0.373	D	0.83499	0.0074	10	0.54805	T	0.06	-11.0756	8.0098	0.30347	0.0838:0.0:0.7582:0.158	.	455	Q9Y4C5	CHST2_HUMAN	S	455	ENSP00000307911:A455S	ENSP00000307911:A455S	A	+	1	0	CHST2	144323711	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.245000	0.58734	2.303000	0.77524	0.514000	0.50259	GCC		PASS	0.612	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		7	61	7	61	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158983100	158983100	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:158983100C>G	ENST00000451172.1	+	5	493	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000482126.1_Missense_Mutation_p.L103V	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	130								p.L130V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GGTGATTCTTCTCTACCTTGA	0.512																																						uc003fcp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CTC>GTC		IQ motif containing J isoform CaMBPv1							143.0	140.0	141.0					3																	158983100		1922	4128	6050	SO:0001583	missense	654502							g.chr3:158983100C>G	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.388C>G	3.37:g.158983100C>G	ENSP00000402153:p.Leu130Val					SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.L103V	p.L130V	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	493	+			130					B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.388C>G	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	C	8.871	0.949380	0.18356	.	.	ENSG00000214216	ENST00000451172;ENST00000482126	.	.	.	3.39	-2.76	0.05896	.	.	.	.	.	T	0.16854	0.0405	N	0.19112	0.55	0.09310	N	1	B;B	0.28291	0.206;0.206	B;B	0.21546	0.035;0.035	T	0.19063	-1.0317	8	0.66056	D	0.02	.	0.7038	0.00912	0.1798:0.2306:0.1654:0.4242	.	103;130	B7ZMM2;Q1A5X6	.;IQCJ_HUMAN	V	130;103	.	ENSP00000402153:L130V	L	+	1	0	IQCJ	160465794	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.267000	0.02839	-0.629000	0.05575	-0.229000	0.12294	CTC		PASS	0.512	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		17	205	17	205	---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183858308	183858308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:183858308C>T	ENST00000273783.3	+	7	1068	c.946C>T	c.(946-948)Cga>Tga	p.R316*	EIF2B5_ENST00000444495.1_Nonsense_Mutation_p.R316*	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	316					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.R316*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CGTCATCCGCCGATGGGTCTA	0.567																																						uc003fmp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(946-948)CGA>TGA		eukaryotic translation initiation factor 2B,							232.0	218.0	223.0					3																	183858308		2203	4300	6503	SO:0001587	stop_gained	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183858308C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.946C>T	3.37:g.183858308C>T	ENSP00000273783:p.Arg316*					EIF2B5_uc003fmq.2_Nonsense_Mutation_p.R37*|EIF2B5_uc003fmr.2_5'Flank	p.R316*	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1310	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		316					Q541Z1|Q96D04	Nonsense_Mutation	SNP	ENST00000273783.3	37	c.946C>T	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	38	7.017960	0.98006	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0563	0.97651	0.0:1.0:0.0:0.0	.	.	.	.	X	316;316;72	.	ENSP00000273783:R316X	R	+	1	2	EIF2B5	185341002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.746000	0.94184	0.563000	0.77884	CGA		PASS	0.567	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			11	272	11	272	---	---	---	---
AHSG	197	broad.mit.edu	37	3	186338694	186338694	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:186338694G>A	ENST00000273784.5	+	7	1158	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	AHSG_ENST00000411641.2_Missense_Mutation_p.G360E	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	360					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.G360E(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCATGTCCGGGGAGGATCAGA	0.572																																						uc003fqk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)GGG>GAG		alpha-2-HS-glycoprotein							66.0	60.0	62.0					3																	186338694		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338694G>A	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.1082G>A	3.37:g.186338694G>A	ENSP00000273784:p.Gly361Glu					AHSG_uc003fql.3_Missense_Mutation_p.G361E|AHSG_uc003fqm.3_Missense_Mutation_p.G359E|AHSG_uc010hyp.2_Missense_Mutation_p.G323E	p.G360E	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1160	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		360					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.1079G>A		.	.	.	.	.	.	.	.	.	.	g	13.87	2.366705	0.41902	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.16743	2.35;2.32	5.37	4.49	0.54785	.	0.086220	0.50627	D	0.000113	T	0.41119	0.1145	M	0.76170	2.325	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.36529	-0.9744	10	0.87932	D	0	-22.9898	12.4646	0.55751	0.0:0.1683:0.8317:0.0	.	426;360;361	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	E	360;426;361	ENSP00000393887:G360E;ENSP00000273784:G361E	ENSP00000273784:G361E	G	+	2	0	AHSG	187821388	1.000000	0.71417	0.905000	0.35620	0.034000	0.12701	3.546000	0.53656	1.398000	0.46701	0.563000	0.77884	GGG		PASS	0.572	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		5	82	5	82	---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062396	194062396	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:194062396T>C	ENST00000323830.3	-	2	1125	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	CPN2_ENST00000429275.1_Missense_Mutation_p.S346G	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	346					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.S346G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGGTTGTTGCTGCCCAGGTAG	0.577																																						uc003fts.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1036-1038)AGC>GGC		carboxypeptidase N, polypeptide 2							61.0	63.0	62.0					3																	194062396		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062396T>C	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1036A>G	3.37:g.194062396T>C	ENSP00000319464:p.Ser346Gly						p.S346G	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1126	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		346			LRR 11.		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1036A>G	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720282	0.48728	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.55234	0.53;0.53	5.56	5.56	0.83823	.	0.000000	0.45126	D	0.000391	T	0.36991	0.0987	N	0.20610	0.595	0.30454	N	0.774963	P	0.39352	0.669	B	0.41374	0.355	T	0.28964	-1.0027	10	0.08381	T	0.77	.	12.3152	0.54951	0.0:0.0:0.1798:0.8202	.	346	P22792	CPN2_HUMAN	G	346	ENSP00000319464:S346G;ENSP00000402232:S346G	ENSP00000319464:S346G	S	-	1	0	CPN2	195544091	0.000000	0.05858	1.000000	0.80357	0.576000	0.36127	-0.365000	0.07573	2.246000	0.74042	0.533000	0.62120	AGC		PASS	0.577	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		4	105	4	105	---	---	---	---
FAM43A	131583	broad.mit.edu	37	3	194407900	194407900	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr3:194407900G>A	ENST00000329759.4	+	1	1279	c.345G>A	c.(343-345)gcG>gcA	p.A115A		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	115								p.A115A(1)		breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CGGTGAGTGCGCAGGGTATCC	0.711																																						uc003fuj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(343-345)GCG>GCA		hypothetical protein LOC131583							27.0	27.0	27.0					3																	194407900		2203	4298	6501	SO:0001819	synonymous_variant	131583							g.chr3:194407900G>A	AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.345G>A	3.37:g.194407900G>A							p.A115A	NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)	1	1279	+	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	115					A3KME2|Q8IXP4|Q8WZ07	Silent	SNP	ENST00000329759.4	37	c.345G>A	CCDS33923.1																																																																																				PASS	0.711	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		7	54	7	54	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6114505	6114505	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:6114505C>G	ENST00000282924.5	-	2	558	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E25Q|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E25Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E25Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E25Q	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	25	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E25Q(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCGCAGCTCCTCGTTGGCC	0.602																																						uc003giu.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(73-75)GAG>CAG		janus kinase and microtubule interacting protein							139.0	116.0	124.0					4																	6114505		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6114505C>G	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.73G>C	4.37:g.6114505C>G	ENSP00000282924:p.Glu25Gln					JAKMIP1_uc010idb.1_Missense_Mutation_p.E25Q|JAKMIP1_uc010idc.1_Missense_Mutation_p.E25Q|JAKMIP1_uc010idd.1_Missense_Mutation_p.E25Q|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E25Q|JAKMIP1_uc003giv.3_Missense_Mutation_p.E25Q|JAKMIP1_uc010ide.2_Missense_Mutation_p.E25Q	p.E25Q	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			2	349	-			25			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.73G>C	CCDS3385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.941855|4.941855	0.92526|0.92526	.|.	.|.	ENSG00000152969|ENSG00000152969	ENST00000429819|ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831;ENST00000410077	.|T;T;T;T;T	.|0.34667	.|1.35;1.35;1.35;1.35;1.35	3.94|3.94	3.94|3.94	0.45596|0.45596	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	.|T	.|0.58552	.|0.2130	M|M	0.71581|0.71581	2.175|2.175	0.23180|0.23180	N|N	0.998162|0.998162	.|D;D;P;P;D	.|0.76494	.|0.965;0.999;0.906;0.906;0.999	.|P;D;P;P;D	.|0.83275	.|0.582;0.996;0.582;0.582;0.996	.|T	.|0.53041	.|-0.8494	.|10	.|0.59425	.|D	.|0.04	.|.	15.1499|15.1499	0.72689|0.72689	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|25;25;25;25;25	.|B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.|.;.;.;.;JKIP1_HUMAN	.|Q	-1|25	.|ENSP00000386711:E25Q;ENSP00000387042:E25Q;ENSP00000282924:E25Q;ENSP00000386925:E25Q;ENSP00000386745:E25Q	.|ENSP00000282924:E25Q	.|E	-|-	.|1	.|0	JAKMIP1|JAKMIP1	6165406|6165406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.238000|7.238000	0.78173|0.78173	2.041000|2.041000	0.60428|0.60428	0.591000|0.591000	0.81541|0.81541	.|GAG		PASS	0.602	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		5	100	5	100	---	---	---	---
PSAPL1	768239	broad.mit.edu	37	4	7435593	7435593	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:7435593G>A	ENST00000319098.4	-	1	1107	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	338	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.I70I(1)|p.I338I(1)		lung(4)	4						TGTCCACCAAGATGATGCACT	0.577																																						uc011bwj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1012-1014)ATC>ATT		prosaposin-like protein 1							104.0	109.0	107.0					4																	7435593		2177	4270	6447	SO:0001819	synonymous_variant	768239				sphingolipid metabolic process	extracellular region|lysosome		g.chr4:7435593G>A	DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.1014C>T	4.37:g.7435593G>A						SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	p.I338I	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN			1	1108	-			338			Saposin B-type 3.		A0A184|Q8N7T4	Silent	SNP	ENST00000319098.4	37	c.1014C>T	CCDS47009.1																																																																																				PASS	0.577	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358859.1			20	167	20	167	---	---	---	---
PI4K2B	55300	broad.mit.edu	37	4	25260783	25260783	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:25260783T>A	ENST00000264864.6	+	5	1070	c.881T>A	c.(880-882)gTt>gAt	p.V294D	PI4K2B_ENST00000512921.1_Missense_Mutation_p.V198D	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	294	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.V294D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAAAGATTAGTTATTTTGGAT	0.318																																						uc003grk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(880-882)GTT>GAT		phosphatidylinositol 4-kinase type 2 beta							63.0	69.0	67.0					4																	25260783		2203	4297	6500	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25260783T>A	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.881T>A	4.37:g.25260783T>A	ENSP00000264864:p.Val294Asp					PI4K2B_uc011bxs.1_Missense_Mutation_p.V198D	p.V294D	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN			5	1014	+		Breast(46;0.173)	294			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.881T>A	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247271	0.80024	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T;T	0.78246	-1.16;-1.16	5.33	5.33	0.75918	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94106	0.7366	10	0.66056	D	0.02	-23.8619	15.282	0.73794	0.0:0.0:0.0:1.0	.	294	Q8TCG2	P4K2B_HUMAN	D	198;294;263	ENSP00000423373:V198D;ENSP00000264864:V294D	ENSP00000264864:V294D	V	+	2	0	PI4K2B	24869881	1.000000	0.71417	0.804000	0.32291	0.783000	0.44284	7.907000	0.87430	2.008000	0.58898	0.383000	0.25322	GTT		PASS	0.318	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		13	121	13	121	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47605540	47605540	+	Missense_Mutation	SNP	C	C	T	rs542142640		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:47605540C>T	ENST00000273857.4	-	20	2685	c.2686G>A	c.(2686-2688)Gtt>Att	p.V896I	CORIN_ENST00000505909.1_Missense_Mutation_p.V859I|CORIN_ENST00000502252.1_Missense_Mutation_p.V829I|CORIN_ENST00000508498.1_Missense_Mutation_p.V757I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	896	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.V896I(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTCAGCTCAACGATGCTGATG	0.537																																						uc003gxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2686-2688)GTT>ATT		corin							161.0	128.0	139.0					4																	47605540		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47605540C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2686G>A	4.37:g.47605540C>T	ENSP00000273857:p.Val896Ile					CORIN_uc011bzf.1_Missense_Mutation_p.V757I|CORIN_uc011bzg.1_Missense_Mutation_p.V829I	p.V896I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			20	2779	-			896			Extracellular (Potential).|Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2686G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	1.227	-0.625266	0.03610	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.08	4.35	0.52113	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.470541	0.21590	N	0.072112	T	0.31765	0.0807	N	0.04148	-0.265	0.80722	D	1	B;B	0.22276	0.067;0.004	B;B	0.26416	0.069;0.009	T	0.03818	-1.1001	10	0.15952	T	0.53	.	15.1375	0.72579	0.0:0.8355:0.1045:0.0599	.	829;896	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	I	896;757;829;859	ENSP00000273857:V896I;ENSP00000425597:V757I;ENSP00000424212:V829I;ENSP00000425401:V859I	ENSP00000273857:V896I	V	-	1	0	CORIN	47300297	0.976000	0.34144	0.002000	0.10522	0.000000	0.00434	2.452000	0.44961	0.462000	0.27095	-2.151000	0.00333	GTT		PASS	0.537	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			6	92	6	92	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56831849	56831849	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:56831849C>T	ENST00000257287.4	+	8	992	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	290					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R290C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CCTGGAGAAGCGTATACGAGA	0.333																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(868-870)CGT>TGT		centrosome protein 4							56.0	55.0	55.0					4																	56831849		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56831849C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.868C>T	4.37:g.56831849C>T	ENSP00000257287:p.Arg290Cys					CEP135_uc003hbj.2_5'UTR|CEP135_uc010igz.1_Missense_Mutation_p.R120C	p.R290C	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			8	1102	+	Glioma(25;0.08)|all_neural(26;0.101)		290			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.868C>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191151	0.78902	.	.	ENSG00000174799	ENST00000257287	T	0.51071	0.72	5.56	5.56	0.83823	.	0.319686	0.35525	N	0.003145	T	0.60907	0.2305	L	0.54323	1.7	0.47153	D	0.999334	D	0.71674	0.998	P	0.55824	0.785	T	0.61922	-0.6963	10	0.59425	D	0.04	.	19.5189	0.95177	0.0:1.0:0.0:0.0	.	290	Q66GS9	CP135_HUMAN	C	290	ENSP00000257287:R290C	ENSP00000257287:R290C	R	+	1	0	CEP135	56526606	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.938000	0.63519	2.619000	0.88677	0.460000	0.39030	CGT		PASS	0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		8	45	8	45	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57215996	57215996	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:57215996T>C	ENST00000205214.6	-	11	2101	c.1921A>G	c.(1921-1923)Agt>Ggt	p.S641G	AASDH_ENST00000434343.2_Missense_Mutation_p.S156G|AASDH_ENST00000513376.1_Missense_Mutation_p.S541G|AASDH_ENST00000602986.1_Missense_Mutation_p.S488G|AASDH_ENST00000451613.1_Missense_Mutation_p.S641G|AASDH_ENST00000502617.1_Missense_Mutation_p.S641G	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	641					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.S641G(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTGGCACAACTCTTCCTGAAT	0.403																																						uc003hbn.2																			1	Substitution - Missense(1)	p.S641I(1)	lung(1)	ovary(4)	4						c.(1921-1923)AGT>GGT		aminoadipate-semialdehyde dehydrogenase							190.0	163.0	172.0					4																	57215996		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215996T>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1921A>G	4.37:g.57215996T>C	ENSP00000205214:p.Ser641Gly					AASDH_uc010ihb.2_Missense_Mutation_p.S156G|AASDH_uc011caa.1_Missense_Mutation_p.S488G|AASDH_uc003hbo.2_Missense_Mutation_p.S541G|AASDH_uc011cab.1_Missense_Mutation_p.S156G|AASDH_uc010ihc.2_Missense_Mutation_p.S641G|AASDH_uc003hbp.2_Missense_Mutation_p.S641G	p.S641G	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			11	2074	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	641					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.1921A>G	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.233405	0.22626	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	6.06	2.02	0.26589	.	0.805159	0.12194	N	0.490902	T	0.07999	0.0200	N	0.24115	0.695	0.09310	N	1	P;B;B;B	0.38078	0.617;0.383;0.383;0.049	B;B;B;B	0.36719	0.121;0.115;0.231;0.016	T	0.32877	-0.9890	10	0.18710	T	0.47	-2.6864	6.3835	0.21548	0.0:0.1395:0.2467:0.6138	.	488;641;641;641	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	G	641;541;156;641;488;641	ENSP00000205214:S641G;ENSP00000423760:S541G;ENSP00000392158:S156G;ENSP00000409656:S641G;ENSP00000421171:S641G	ENSP00000205214:S641G	S	-	1	0	AASDH	56910753	0.005000	0.15991	0.027000	0.17364	0.822000	0.46500	1.251000	0.32862	0.493000	0.27837	0.533000	0.62120	AGT		PASS	0.403	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		5	261	5	261	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62849149	62849149	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:62849149G>T	ENST00000514591.1	+	18	3189	c.2860G>T	c.(2860-2862)Gcc>Tcc	p.A954S	LPHN3_ENST00000514996.1_Missense_Mutation_p.A954S|LPHN3_ENST00000512091.2_Missense_Mutation_p.A954S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A1022S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A954S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A954S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A1022S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A954S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A1022S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A1022S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A1022S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A1022S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A954S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A1022S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A954S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	941					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.A954S(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTCTTGGCTGCCTTCACCTG	0.443																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2860-2862)GCC>TCC		latrophilin 3 precursor							144.0	135.0	138.0					4																	62849149		1960	4170	6130	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62849149G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2860G>T	4.37:g.62849149G>T	ENSP00000422533:p.Ala954Ser					LPHN3_uc003hcq.3_Missense_Mutation_p.A954S|LPHN3_uc003hct.2_Missense_Mutation_p.A347S	p.A954S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			16	3033	+			941			Helical; Name=3; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2860G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.836351|4.836351	0.91117|0.91117	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.23348|.	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91|.	5.68|5.68	5.68|5.68	0.88126|0.88126	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56558|0.56558	0.1993|0.1993	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.998|.	D;D;D|.	0.83275|.	0.996;0.996;0.994|.	T|T	0.49652|0.49652	-0.8917|-0.8917	10|5	0.44086|.	T|.	0.13|.	.|.	19.8045|19.8045	0.96525|0.96525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	954;941;954|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	S|F	954;954;1022;1022;954;954;941;954;1022;1022;1022;954;954;954;1022;1022;954|411	ENSP00000423388:A954S;ENSP00000422533:A954S;ENSP00000423787:A1022S;ENSP00000425033:A1022S;ENSP00000424120:A954S;ENSP00000439831:A954S;ENSP00000421476:A1022S;ENSP00000424030:A1022S;ENSP00000421372:A1022S;ENSP00000425201:A954S;ENSP00000423434:A954S;ENSP00000421627:A954S;ENSP00000420931:A1022S;ENSP00000425884:A1022S;ENSP00000424258:A954S|.	ENSP00000280009:A954S|.	A|C	+|+	1|2	0|0	LPHN3|LPHN3	62531744|62531744	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.944000|0.944000	0.59088|0.59088	7.903000|7.903000	0.87398|0.87398	2.694000|2.694000	0.91930|0.91930	0.585000|0.585000	0.79938|0.79938	GCC|TGC		PASS	0.443	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			17	74	17	74	---	---	---	---
CXCL6	6372	broad.mit.edu	37	4	74702938	74702938	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:74702938G>A	ENST00000226317.5	+	3	515	c.261G>A	c.(259-261)ggG>ggA	p.G87G	CXCL6_ENST00000515050.1_Silent_p.G87G|CXCL6_ENST00000503446.1_3'UTR	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	87					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.G87G(1)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGAAGAACGGGAAGCAAGTTT	0.463																																						uc003hhf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)GGG>GGA		chemokine (C-X-C motif) ligand 6 (granulocyte							98.0	105.0	102.0					4																	74702938		2203	4300	6503	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702938G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.261G>A	4.37:g.74702938G>A						IL8_uc011cbh.1_Intron	p.G87G	NM_002993	NP_002984	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		3	456	+	Breast(15;0.00102)		87					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.261G>A	CCDS3560.1																																																																																				PASS	0.463	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		4	105	4	105	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100530115	100530115	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:100530115C>T	ENST00000265517.5	+	12	1953	c.1750C>T	c.(1750-1752)Cgt>Tgt	p.R584C	MTTP_ENST00000457717.1_Missense_Mutation_p.R584C|MTTP_ENST00000511045.1_Missense_Mutation_p.R611C|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	584	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.R584C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGACATCCTACGTTTTGAAAT	0.408																																						uc003hvc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1750-1752)CGT>TGT		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						124.0	118.0	120.0					4																	100530115		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100530115C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1750C>T	4.37:g.100530115C>T	ENSP00000265517:p.Arg584Cys					MTTP_uc011cej.1_Missense_Mutation_p.R611C	p.R584C	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	13	2006	+			584			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1750C>T	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604581	0.66445	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.70869	-0.52;-0.52;-0.52	4.99	4.99	0.66335	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.395868	0.31156	N	0.008144	T	0.73434	0.3586	L	0.56769	1.78	0.53688	D	0.999977	D;D	0.63880	0.993;0.99	P;P	0.46885	0.528;0.53	T	0.78344	-0.2240	10	0.72032	D	0.01	-21.808	18.6288	0.91352	0.0:1.0:0.0:0.0	.	611;584	E9PBP6;P55157	.;MTP_HUMAN	C	611;584;584	ENSP00000427679:R611C;ENSP00000400821:R584C;ENSP00000265517:R584C	ENSP00000265517:R584C	R	+	1	0	MTTP	100749138	1.000000	0.71417	0.443000	0.26883	0.899000	0.52679	5.640000	0.67875	2.463000	0.83235	0.643000	0.83706	CGT		PASS	0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			7	146	7	146	---	---	---	---
SGMS2	166929	broad.mit.edu	37	4	108816946	108816946	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:108816946G>A	ENST00000394684.4	+	3	794	c.237G>A	c.(235-237)acG>acA	p.T79T	RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Silent_p.T79T|SGMS2_ENST00000359079.4_Silent_p.T79T	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	79					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.T79T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		GGTGGAAAACGGGCATTGCCT	0.483																																						uc003hyl.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(235-237)ACG>ACA		sphingomyelin synthase 2	Choline(DB00122)						116.0	109.0	111.0					4																	108816946		2203	4300	6503	SO:0001819	synonymous_variant	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108816946G>A	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.237G>A	4.37:g.108816946G>A						uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.T79T|SGMS2_uc003hyo.2_Silent_p.T79T	p.T79T	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	3	792	+			79					A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	c.237G>A	CCDS3677.1																																																																																				PASS	0.483	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		7	105	7	105	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114275200	114275200	+	Missense_Mutation	SNP	C	C	T	rs531261130	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:114275200C>T	ENST00000357077.4	+	38	5479	c.5426C>T	c.(5425-5427)gCg>gTg	p.A1809V	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1776V|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1809	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1809V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCCAGCTGCGTCACCCTCT	0.522													C|||	3	0.000599042	0.0	0.0	5008	,	,		18596	0.0		0.0	False		,,,				2504	0.0031					uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5425-5427)GCG>GTG		ankyrin 2 isoform 1							97.0	108.0	104.0					4																	114275200		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275200C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5426C>T	4.37:g.114275200C>T	ENSP00000349588:p.Ala1809Val					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.A1824V	p.A1809V	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5526	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1776			Repeat A.|Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5426C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	2.544	-0.305710	0.05495	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65916	-0.18;-0.18	5.44	-1.86	0.07760	.	0.870653	0.09738	N	0.762286	T	0.28001	0.0690	N	0.01668	-0.77	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.23797	-1.0178	9	.	.	.	.	7.7817	0.29068	0.1495:0.2018:0.0:0.6487	.	1776;1809	Q01484;Q01484-4	ANK2_HUMAN;.	V	1809;1776	ENSP00000349588:A1809V;ENSP00000264366:A1776V	.	A	+	2	0	ANK2	114494649	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.180000	0.03088	-0.250000	0.09555	0.655000	0.94253	GCG		PASS	0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	138	9	138	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126328171	126328171	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:126328171G>T	ENST00000394329.3	+	3	5457	c.5444G>T	c.(5443-5445)cGt>cTt	p.R1815L	FAT4_ENST00000335110.5_Missense_Mutation_p.R113L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1815	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1815L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCTAGTTCGTGCTGATGAT	0.468																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(5443-5445)CGT>CTT		FAT tumor suppressor homolog 4 precursor							159.0	147.0	151.0					4																	126328171		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126328171G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5444G>T	4.37:g.126328171G>T	ENSP00000377862:p.Arg1815Leu					FAT4_uc011cgp.1_Missense_Mutation_p.R113L	p.R1815L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			3	5444	+			1815			Cadherin 17.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5444G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828308	0.90955	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01665	4.7;4.7	5.37	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.35124	U	0.003435	T	0.05410	0.0143	L	0.31120	0.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.58885	-0.7557	10	0.34782	T	0.22	.	15.8624	0.79035	0.0:0.1356:0.8644:0.0	.	113;1815	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	1815;113	ENSP00000377862:R1815L;ENSP00000335169:R113L	ENSP00000335169:R113L	R	+	2	0	FAT4	126547621	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.452000	0.80683	2.669000	0.90835	0.650000	0.86243	CGT		PASS	0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		23	211	23	211	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126373015	126373015	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:126373015G>T	ENST00000394329.3	+	9	10857	c.10844G>T	c.(10843-10845)cGg>cTg	p.R3615L	FAT4_ENST00000335110.5_Missense_Mutation_p.R1913L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3615	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3615L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCACAGTCTCGGACGGTGGAG	0.438																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10843-10845)CGG>CTG		FAT tumor suppressor homolog 4 precursor							78.0	79.0	79.0					4																	126373015		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373015G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10844G>T	4.37:g.126373015G>T	ENSP00000377862:p.Arg3615Leu					FAT4_uc011cgp.1_Missense_Mutation_p.R1913L|FAT4_uc003ifi.1_Missense_Mutation_p.R1093L	p.R3615L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10844	+			3615			Cadherin 34.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10844G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801893	0.70682	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.13778	2.56;2.56	5.91	5.91	0.95273	Cadherin (1);	0.000000	0.31884	U	0.006902	T	0.28067	0.0692	L	0.31526	0.94	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.01078	-1.1459	10	0.25106	T	0.35	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1913;3615;3615	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3615;1913	ENSP00000377862:R3615L;ENSP00000335169:R1913L	ENSP00000335169:R1913L	R	+	2	0	FAT4	126592465	1.000000	0.71417	0.763000	0.31416	0.229000	0.25112	9.666000	0.98612	2.793000	0.96121	0.655000	0.94253	CGG		PASS	0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	172	6	172	---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128851936	128851936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:128851936C>T	ENST00000296468.3	-	10	1027	c.900G>A	c.(898-900)tgG>tgA	p.W300*	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.W255*|MFSD8_ENST00000541133.1_3'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	300					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.W300*(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GTTCTTGAGTCCAGGCATACA	0.313																																						uc003ifp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|liver(1)	2						c.(898-900)TGG>TGA		major facilitator superfamily domain containing							108.0	112.0	111.0					4																	128851936		2203	4297	6500	SO:0001587	stop_gained	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128851936C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.900G>A	4.37:g.128851936C>T	ENSP00000296468:p.Trp300*					MFSD8_uc011cgu.1_Nonsense_Mutation_p.W255*|MFSD8_uc011cgv.1_Nonsense_Mutation_p.W262*|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_3'UTR	p.W300*	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			10	1063	-			300			Extracellular (Potential).		B2RDM1|B7Z205|Q8N2P3	Nonsense_Mutation	SNP	ENST00000296468.3	37	c.900G>A	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778283	0.49786	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	.	.	.	4.98	4.98	0.66077	.	0.129568	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0019	18.4277	0.90614	0.0:1.0:0.0:0.0	.	.	.	.	X	300;255	.	ENSP00000296468:W300X	W	-	3	0	MFSD8	129071386	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.655000	0.74392	2.589000	0.87451	0.467000	0.42956	TGG		PASS	0.313	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		10	174	10	174	---	---	---	---
PALLD	23022	broad.mit.edu	37	4	169606677	169606677	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:169606677C>T	ENST00000505667.1	+	6	1475	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	PALLD_ENST00000261509.6_Silent_p.T434T|PALLD_ENST00000335742.7_Silent_p.T52T|PALLD_ENST00000512127.1_Silent_p.T52T|RNU6-1336P_ENST00000383886.1_RNA|PALLD_ENST00000333488.4_Silent_p.T311T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	434					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.T434T(1)|p.T52T(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGATGGAACCACTACTGCCT	0.393									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1300-1302)ACC>ACT		palladin isoform 2							221.0	215.0	217.0					4																	169606677		2203	4300	6503	SO:0001819	synonymous_variant	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169606677C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1302C>T	4.37:g.169606677C>T						PALLD_uc003iru.2_Silent_p.T434T|PALLD_uc003irv.2_Silent_p.T52T	p.T434T	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	6	1513	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	434					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	c.1302C>T	CCDS54818.1																																																																																				PASS	0.393	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		6	184	6	184	---	---	---	---
LRP2BP	55805	broad.mit.edu	37	4	186291928	186291928	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:186291928C>T	ENST00000328559.7	-	7	1655	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	LRP2BP_ENST00000362004.3_Missense_Mutation_p.A284T|LRP2BP_ENST00000505916.1_Missense_Mutation_p.A282T|LRP2BP_ENST00000510776.1_Missense_Mutation_p.A256T|RP11-714G18.1_ENST00000514884.1_RNA	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	282						cytoplasm (GO:0005737)		p.A282T(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GTGACCTGGGCGATCATGGGG	0.498																																						uc003ixj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(844-846)GCC>ACC		LRP2 binding protein							134.0	109.0	117.0					4																	186291928		2203	4300	6503	SO:0001583	missense	55805					cytoplasm	protein binding	g.chr4:186291928C>T	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.844G>A	4.37:g.186291928C>T	ENSP00000332681:p.Ala282Thr					LRP2BP_uc003ixk.1_Missense_Mutation_p.A256T|LRP2BP_uc011ckr.1_Missense_Mutation_p.A282T	p.A282T	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	7	1656	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	282					A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	c.844G>A	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625104	0.87560	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.49720	0.78;0.77;0.81;0.77	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);	0.112777	0.64402	D	0.000015	T	0.49660	0.1570	L	0.32530	0.975	0.58432	D	0.999994	D;D	0.67145	0.996;0.979	P;B	0.50860	0.652;0.37	T	0.34601	-0.9822	10	0.36615	T	0.2	-10.1984	19.5221	0.95189	0.0:1.0:0.0:0.0	.	256;282	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	T	284;282;256;282	ENSP00000354846:A284T;ENSP00000332681:A282T;ENSP00000424610:A256T;ENSP00000426203:A282T	ENSP00000332681:A282T	A	-	1	0	LRP2BP	186528922	1.000000	0.71417	0.841000	0.33234	0.833000	0.47200	3.539000	0.53604	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.498	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		8	131	8	131	---	---	---	---
CYP4V2	285440	broad.mit.edu	37	4	187120144	187120144	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr4:187120144G>A	ENST00000378802.4	+	6	1012	c.708G>A	c.(706-708)atG>atA	p.M236I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	236					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.M236I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GAATAAAGATGCCCTGGCTTT	0.363																																						uc003iyw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(706-708)ATG>ATA		cytochrome P450, family 4, subfamily v,							147.0	144.0	145.0					4																	187120144		2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187120144G>A	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.708G>A	4.37:g.187120144G>A	ENSP00000368079:p.Met236Ile						p.M236I	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	6	1012	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	236					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.708G>A	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689070	0.29962	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.68624	-0.34	4.81	3.96	0.45880	.	0.278367	0.43579	D	0.000553	T	0.44456	0.1294	N	0.14661	0.345	0.35769	D	0.82077	B	0.25904	0.137	B	0.23018	0.043	T	0.48670	-0.9015	10	0.35671	T	0.21	.	6.836	0.23937	0.1664:0.1594:0.6742:0.0	.	236	Q6ZWL3	CP4V2_HUMAN	I	236;214	ENSP00000368079:M236I	ENSP00000274118:M214I	M	+	3	0	CYP4V2	187357138	0.990000	0.36364	0.999000	0.59377	0.480000	0.33159	0.537000	0.23144	1.245000	0.43885	0.650000	0.86243	ATG		PASS	0.363	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		28	129	28	129	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13845026	13845026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:13845026G>A	ENST00000265104.4	-	32	5295	c.5191C>T	c.(5191-5193)Cag>Tag	p.Q1731*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1731	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q1731*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCGACGCCTGCCCCAGAATC	0.448									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5191-5193)CAG>TAG		dynein, axonemal, heavy chain 5							95.0	98.0	97.0					5																	13845026		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13845026G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5191C>T	5.37:g.13845026G>A	ENSP00000265104:p.Gln1731*						p.Q1731*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			32	5233	-	Lung NSC(4;0.00476)		1731			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.5191C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	45	11.719911	0.99595	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.09	5.09	0.68999	.	0.062460	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.588	0.91197	0.0:0.0:1.0:0.0	.	.	.	.	X	1731	.	ENSP00000265104:Q1731X	Q	-	1	0	DNAH5	13898026	1.000000	0.71417	0.993000	0.49108	0.237000	0.25408	9.657000	0.98554	2.384000	0.81235	0.650000	0.86243	CAG		PASS	0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		34	153	34	153	---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37392194	37392194	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:37392194G>A	ENST00000265107.4	+	4	424	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	WDR70_ENST00000504564.1_Missense_Mutation_p.V90I	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	90	Ser-rich.						enzyme binding (GO:0019899)	p.V90I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAAATGTGGTCAGAGATTG	0.328																																						uc003jkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(268-270)GTC>ATC		WD repeat domain 70							140.0	145.0	143.0					5																	37392194		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37392194G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.268G>A	5.37:g.37392194G>A	ENSP00000265107:p.Val90Ile					WDR70_uc010iva.1_Missense_Mutation_p.V90I	p.V90I	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	326	+	all_lung(31;0.000285)		90			Ser-rich.		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.268G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177702	0.06380	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.85629	-0.18;-2.01	4.1	2.3	0.28687	.	0.703584	0.13882	N	0.356248	T	0.69788	0.3150	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.57418	-0.7815	10	0.36615	T	0.2	-29.9143	5.9361	0.19167	0.2322:0.0:0.7678:0.0	.	90;90	D6RIW8;Q9NW82	.;WDR70_HUMAN	I	90	ENSP00000265107:V90I;ENSP00000425841:V90I	ENSP00000265107:V90I	V	+	1	0	WDR70	37427951	0.014000	0.17966	0.687000	0.30102	0.529000	0.34654	0.144000	0.16135	1.082000	0.41137	-0.244000	0.11960	GTC		PASS	0.328	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		17	190	17	190	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38352359	38352359	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:38352359G>T	ENST00000354891.3	+	5	817	c.471G>T	c.(469-471)gaG>gaT	p.E157D	EGFLAM_ENST00000322350.5_Missense_Mutation_p.E157D	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	157	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.E157D(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CGGATTCTGAGGTGGCCCTGT	0.507																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(469-471)GAG>GAT		EGF-like, fibronectin type III and laminin G							137.0	132.0	134.0					5																	38352359		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38352359G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.471G>T	5.37:g.38352359G>T	ENSP00000346964:p.Glu157Asp					EGFLAM_uc003jlb.1_Missense_Mutation_p.E157D	p.E157D	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			5	795	+	all_lung(31;0.000385)		157			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.471G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044566	0.75732	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57752	0.38;0.38	4.73	1.65	0.23941	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	L	0.53561	1.675	0.80722	D	1	P;P	0.46457	0.878;0.843	P;P	0.53593	0.73;0.525	T	0.50524	-0.8818	10	0.62326	D	0.03	-11.1467	5.9097	0.19020	0.4115:0.0:0.5885:0.0	.	157;157	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	D	157	ENSP00000346964:E157D;ENSP00000313084:E157D	ENSP00000313084:E157D	E	+	3	2	EGFLAM	38388116	1.000000	0.71417	0.988000	0.46212	0.890000	0.51754	0.435000	0.21510	0.006000	0.14734	0.563000	0.77884	GAG		PASS	0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		7	255	7	255	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38944564	38944564	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:38944564C>G	ENST00000357387.3	-	36	4927	c.4897G>C	c.(4897-4899)Gag>Cag	p.E1633Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.E1657Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.E1633Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCCCAGTCTCATGACATTTA	0.323																																						uc003jlp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(4897-4899)GAG>CAG		rapamycin-insensitive companion of mTOR							117.0	115.0	116.0					5																	38944564		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38944564C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4897G>C	5.37:g.38944564C>G	ENSP00000349959:p.Glu1633Gln					RICTOR_uc003jlo.2_Missense_Mutation_p.E1657Q|RICTOR_uc010ivf.2_Missense_Mutation_p.E1310Q	p.E1633Q	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			36	4921	-	all_lung(31;0.000396)		1633						Missense_Mutation	SNP	ENST00000357387.3	37	c.4897G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564942	0.86439	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.49139	0.8;0.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.69117	-0.5230	10	0.87932	D	0	-19.5643	19.4767	0.94992	0.0:1.0:0.0:0.0	.	1633;1657	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1633;1657	ENSP00000349959:E1633Q;ENSP00000296782:E1657Q	ENSP00000296782:E1657Q	E	-	1	0	RICTOR	38980321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.431000	0.66507	2.601000	0.87937	0.563000	0.77884	GAG		PASS	0.323	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		5	238	5	238	---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41927220	41927220	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:41927220T>C	ENST00000281623.3	+	2	351	c.295T>C	c.(295-297)Tgg>Cgg	p.W99R	FBXO4_ENST00000509134.1_Missense_Mutation_p.W99R|FBXO4_ENST00000296812.2_Missense_Mutation_p.W99R	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	99	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.W99R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCCAATTCTGTGGAGATACTT	0.373																																						uc003jmq.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(295-297)TGG>CGG		F-box only protein 4 isoform 1							182.0	180.0	181.0					5																	41927220		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927220T>C	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.295T>C	5.37:g.41927220T>C	ENSP00000281623:p.Trp99Arg					FBXO4_uc003jmp.2_Missense_Mutation_p.W99R|FBXO4_uc003jmr.2_Missense_Mutation_p.W99R	p.W99R	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			2	351	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	99			F-box.		Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.295T>C	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399946	0.83120	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.76448	-1.02;-1.02;-1.02	5.62	5.62	0.85841	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91772	0.5428	10	0.87932	D	0	-8.852	15.8221	0.78662	0.0:0.0:0.0:1.0	.	99;99;99	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	R	99	ENSP00000296812:W99R;ENSP00000281623:W99R;ENSP00000421749:W99R	ENSP00000281623:W99R	W	+	1	0	FBXO4	41962977	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.417000	0.80156	2.139000	0.66308	0.533000	0.62120	TGG		PASS	0.373	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			15	263	15	263	---	---	---	---
GZMA	3001	broad.mit.edu	37	5	54404118	54404118	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:54404118G>T	ENST00000274306.6	+	4	558	c.523G>T	c.(523-525)Gac>Tac	p.D175Y		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.D175Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CACCATCATAGACAGAAAAGT	0.453																																						uc003jpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(523-525)GAC>TAC		granzyme A precursor							86.0	83.0	84.0					5																	54404118		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54404118G>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.523G>T	5.37:g.54404118G>T	ENSP00000274306:p.Asp175Tyr						p.D175Y	NM_006144	NP_006135	P12544	GRAA_HUMAN			4	560	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	175			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.523G>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509442	0.64522	.	.	ENSG00000145649	ENST00000274306	T	0.49720	0.77	5.93	4.09	0.47781	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.251662	0.44285	D	0.000469	T	0.71074	0.3297	M	0.89785	3.06	0.38640	D	0.951584	D	0.89917	1.0	D	0.76071	0.987	T	0.78076	-0.2345	10	0.87932	D	0	.	10.1116	0.42565	0.2211:0.0:0.7789:0.0	.	175	P12544	GRAA_HUMAN	Y	175	ENSP00000274306:D175Y	ENSP00000274306:D175Y	D	+	1	0	GZMA	54439875	0.925000	0.31364	0.999000	0.59377	0.998000	0.95712	2.319000	0.43788	1.437000	0.47472	0.655000	0.94253	GAC		PASS	0.453	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		5	48	5	48	---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87502852	87502852	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:87502852C>G	ENST00000296595.6	-	6	716	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q	TMEM161B_ENST00000512429.1_Missense_Mutation_p.E187Q|TMEM161B_ENST00000509387.1_Missense_Mutation_p.E71Q|TMEM161B_ENST00000506536.1_Missense_Mutation_p.E16Q|TMEM161B_ENST00000511218.1_Missense_Mutation_p.E16Q|TMEM161B_ENST00000514135.1_Missense_Mutation_p.E198Q	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	198						integral component of membrane (GO:0016021)		p.E198Q(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TTACCTGTTTCAAGTCCAAAT	0.289																																						uc003kjc.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(592-594)GAA>CAA		transmembrane protein 161B							47.0	49.0	49.0					5																	87502852		2202	4293	6495	SO:0001583	missense	153396					integral to membrane		g.chr5:87502852C>G	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.592G>C	5.37:g.87502852C>G	ENSP00000296595:p.Glu198Gln					TMEM161B_uc011cty.1_Missense_Mutation_p.E187Q|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Missense_Mutation_p.E65Q|TMEM161B_uc011ctx.1_Missense_Mutation_p.E16Q	p.E198Q	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	6	717	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	198					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.592G>C	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553101	0.86127	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000511218;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	T	0.73445	-0.3980	9	0.38643	T	0.18	0.2003	18.402	0.90519	0.0:1.0:0.0:0.0	.	16;198	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	Q	198;198;16;16;187;198;71	.	ENSP00000296595:E198Q	E	-	1	0	TMEM161B	87538608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.407000	0.81776	0.585000	0.79938	GAA		PASS	0.289	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		3	39	3	39	---	---	---	---
APC	324	broad.mit.edu	37	5	112175432	112175432	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:112175432C>T	ENST00000457016.1	+	16	4521	c.4141C>T	c.(4141-4143)Cca>Tca	p.P1381S	APC_ENST00000257430.4_Missense_Mutation_p.P1381S|APC_ENST00000508376.2_Missense_Mutation_p.P1381S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1381	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P1381S(2)|p.L1382fs*4(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAGGAGACCCCACTCATGTT	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		6	Substitution - Missense(2)|Deletion - Frameshift(2)|Unknown(1)|Insertion - Frameshift(1)	p.P1381fs*4(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)	large_intestine(2)|biliary_tract(1)|lung(1)|soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(4141-4143)CCA>TCA		adenomatous polyposis coli							97.0	92.0	94.0					5																	112175432		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175432C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4141C>T	5.37:g.112175432C>T	ENSP00000413133:p.Pro1381Ser	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.P1363S|APC_uc003kpz.3_Missense_Mutation_p.P1381S|APC_uc003kpy.3_Missense_Mutation_p.P1381S|APC_uc010jbz.2_Missense_Mutation_p.P1098S|APC_uc010jca.2_Missense_Mutation_p.P681S	p.P1381S	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4521	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1381			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4141C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192039	0.78902	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.96619	-4.07;-4.07;-4.07	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96869	0.9638	9	.	.	.	-17.355	20.4898	0.99202	0.0:1.0:0.0:0.0	.	1383;1381	Q4LE70;P25054	.;APC_HUMAN	S	1381	ENSP00000413133:P1381S;ENSP00000257430:P1381S;ENSP00000427089:P1381S	.	P	+	1	0	APC	112203331	1.000000	0.71417	0.999000	0.59377	0.842000	0.47809	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		7	97	7	97	---	---	---	---
ETF1	2107	broad.mit.edu	37	5	137878559	137878559	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:137878559T>C	ENST00000360541.5	-	2	270	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	ETF1_ENST00000499810.2_5'UTR|ETF1_ENST00000503014.1_5'Flank|ETF1_ENST00000514005.1_5'Flank	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	17					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.I17V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTTCTTGATCTTCCAGATC	0.677																																						uc003ldc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(49-51)ATC>GTC		eukaryotic translation termination factor 1							31.0	31.0	31.0					5																	137878559		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137878559T>C	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.49A>G	5.37:g.137878559T>C	ENSP00000353741:p.Ile17Val					ETF1_uc011cyv.1_5'Flank|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_5'UTR	p.I17V	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	214	-			17					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.49A>G	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510983	0.44660	.	.	ENSG00000120705	ENST00000360541	.	.	.	5.95	5.95	0.96441	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	N	0.17248	0.465	0.80722	D	1	B	0.09022	0.002	B	0.18871	0.023	T	0.30621	-0.9972	9	0.18276	T	0.48	-3.978	16.0779	0.80980	0.0:0.0:0.0:1.0	.	17	P62495	ERF1_HUMAN	V	17	.	ENSP00000353741:I17V	I	-	1	0	ETF1	137906458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.498000	0.81546	2.278000	0.76064	0.528000	0.53228	ATC		PASS	0.677	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		5	42	5	42	---	---	---	---
CTNNA1	1495	broad.mit.edu	37	5	138268318	138268318	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:138268318G>A	ENST00000302763.7	+	17	2440	c.2350G>A	c.(2350-2352)Gcc>Acc	p.A784T	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A681T|CTNNA1_ENST00000540387.1_Missense_Mutation_p.A414T|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A784T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	784					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.A784T(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAACGCATCGCCCTCTACTG	0.587																																						uc003ldh.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(2350-2352)GCC>ACC		catenin, alpha 1							62.0	55.0	57.0					5																	138268318		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138268318G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2350G>A	5.37:g.138268318G>A	ENSP00000304669:p.Ala784Thr					CTNNA1_uc011cyx.1_Missense_Mutation_p.A681T|CTNNA1_uc011cyy.1_Missense_Mutation_p.A661T|CTNNA1_uc003ldi.2_Missense_Mutation_p.A482T|CTNNA1_uc003ldj.2_Missense_Mutation_p.A784T|CTNNA1_uc003ldl.2_Missense_Mutation_p.A414T	p.A784T	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		17	2445	+			784					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.2350G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763798	0.49574	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.65	3.84	0.44239	.	0.054840	0.64402	N	0.000001	T	0.30039	0.0752	L	0.41415	1.275	0.80722	D	1	P;P;P	0.49559	0.925;0.784;0.647	B;B;B	0.39185	0.293;0.277;0.131	T	0.03259	-1.1055	10	0.27082	T	0.32	-6.7208	10.2548	0.43390	0.07:0.0:0.7936:0.1364	.	784;661;784	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	681;784;784;769;784;414	ENSP00000347190:A681T;ENSP00000304669:A784T;ENSP00000427821:A784T;ENSP00000438476:A414T	ENSP00000304669:A784T	A	+	1	0	CTNNA1	138296217	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.635000	0.98437	0.911000	0.36747	0.655000	0.94253	GCC		PASS	0.587	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		9	45	9	45	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475054	140475054	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:140475054C>T	ENST00000194155.4	+	1	828	c.680C>T	c.(679-681)aCg>aTg	p.T227M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	227	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T227M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTCCGGCACGGCCCTGGTA	0.592																																						uc003lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(679-681)ACG>ATG		protocadherin beta 2 precursor																																				SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475054C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.680C>T	5.37:g.140475054C>T	ENSP00000194155:p.Thr227Met					PCDHB2_uc003lim.1_Translation_Start_Site	p.T227M	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	818	+			227			Extracellular (Potential).|Cadherin 2.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.680C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235287	0.39498	.	.	ENSG00000112852	ENST00000194155	T	0.57107	0.42	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78227	0.4250	H	0.94886	3.595	0.20074	N	0.999938	D	0.65815	0.995	P	0.56514	0.8	T	0.74896	-0.3508	9	0.66056	D	0.02	.	19.1926	0.93672	0.0:1.0:0.0:0.0	.	227	Q9Y5E7	PCDB2_HUMAN	M	227	ENSP00000194155:T227M	ENSP00000194155:T227M	T	+	2	0	PCDHB2	140455238	0.556000	0.26538	0.705000	0.30386	0.318000	0.28184	2.403000	0.44530	2.695000	0.91970	0.655000	0.94253	ACG		PASS	0.592	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		9	48	9	48	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141029088	141029088	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:141029088G>A	ENST00000435817.2	-	5	299	c.249C>T	c.(247-249)ttC>ttT	p.F83F	FCHSD1_ENST00000519800.1_Silent_p.F81F|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522126.1_Silent_p.F7F|FCHSD1_ENST00000522783.1_Silent_p.F81F	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	83								p.F83F(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGCACCGAACACTGTCC	0.657																																						uc003llk.2																		FCHSD1/BRAF(2)	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(247-249)TTC>TTT		FCH and double SH3 domains 1							39.0	47.0	44.0					5																	141029088		2154	4257	6411	SO:0001819	synonymous_variant	89848							g.chr5:141029088G>A	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.249C>T	5.37:g.141029088G>A						FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	p.F83F	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	300	-			83					Q6UX75|Q86Y77|Q9NXX8	Silent	SNP	ENST00000435817.2	37	c.249C>T	CCDS47295.1																																																																																				PASS	0.657	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		10	60	10	60	---	---	---	---
MED7	9443	broad.mit.edu	37	5	156565862	156565862	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:156565862C>A	ENST00000286317.5	-	2	962	c.581G>T	c.(580-582)aGc>aTc	p.S194I	MED7_ENST00000420343.1_Missense_Mutation_p.S194I	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	194					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.S194I(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAATTGTTGCTATCATCAGC	0.378																																						uc010jik.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)AGC>ATC		mediator complex subunit 7							187.0	172.0	177.0					5																	156565862		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156565862C>A	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.581G>T	5.37:g.156565862C>A	ENSP00000286317:p.Ser194Ile					MED7_uc003lwm.3_Missense_Mutation_p.S194I	p.S194I	NM_001100816	NP_001094286	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	973	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	194						Missense_Mutation	SNP	ENST00000286317.5	37	c.581G>T	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119292	0.37436	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.81	4.01	0.46588	.	0.419626	0.28796	N	0.014117	T	0.28234	0.0697	L	0.29908	0.895	0.25162	N	0.990349	B	0.18461	0.028	B	0.11329	0.006	T	0.15694	-1.0428	9	0.35671	T	0.21	-9.9655	7.6087	0.28118	0.0:0.7197:0.135:0.1453	.	194	O43513	MED7_HUMAN	I	194	.	ENSP00000286317:S194I	S	-	2	0	MED7	156498440	0.997000	0.39634	0.991000	0.47740	0.996000	0.88848	3.309000	0.51903	0.775000	0.33450	0.655000	0.94253	AGC		PASS	0.378	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		16	147	16	147	---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167858385	167858385	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr5:167858385T>G	ENST00000265293.4	+	15	2718	c.2216T>G	c.(2215-2217)cTt>cGt	p.L739R	WWC1_ENST00000521089.1_Missense_Mutation_p.L739R|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	739	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.L739R(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TATCCAGCCCTTCACCAGAAG	0.572																																						uc003lzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)	5						c.(2215-2217)CTT>CGT		WW and C2 domain containing 1 isoform 3							73.0	66.0	69.0					5																	167858385		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167858385T>G	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2216T>G	5.37:g.167858385T>G	ENSP00000265293:p.Leu739Arg					WWC1_uc003lzv.2_Missense_Mutation_p.L739R|WWC1_uc011den.1_Missense_Mutation_p.L739R|WWC1_uc003lzw.2_Missense_Mutation_p.L538R|WWC1_uc010jjf.1_Missense_Mutation_p.L6R	p.L739R	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	15	2309	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	739			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2216T>G	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324018	0.81580	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.23147	1.92;1.92;1.92	5.24	5.24	0.73138	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	T	0.55986	0.1955	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.999;0.998	T	0.64179	-0.6468	10	0.87932	D	0	.	15.1682	0.72846	0.0:0.0:0.0:1.0	.	739;645;645;739	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	R	739;739;65	ENSP00000265293:L739R;ENSP00000427772:L739R;ENSP00000428084:L65R	ENSP00000265293:L739R	L	+	2	0	WWC1	167790963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	1.977000	0.57605	0.533000	0.62120	CTT		PASS	0.572	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		6	73	6	73	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7585249	7585249	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:7585249C>G	ENST00000379802.3	+	24	8095	c.7754C>G	c.(7753-7755)tCc>tGc	p.S2585C	DSP_ENST00000418664.2_Missense_Mutation_p.S1986C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2585	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S2585C(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTTAGCAGCTCCCGACATGAA	0.483																																						uc003mxp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(7753-7755)TCC>TGC		desmoplakin isoform I							91.0	90.0	90.0					6																	7585249		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585249C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7754C>G	6.37:g.7585249C>G	ENSP00000369129:p.Ser2585Cys					DSP_uc003mxq.1_Missense_Mutation_p.S1986C	p.S2585C	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8033	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2585			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7754C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	6.593	0.477693	0.12521	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.75821	-0.67;-0.97	5.81	4.94	0.65067	.	0.236276	0.30085	N	0.010447	T	0.73860	0.3641	M	0.72118	2.19	0.22280	N	0.999235	D;B	0.61697	0.99;0.412	P;B	0.55824	0.785;0.156	T	0.68830	-0.5305	10	0.38643	T	0.18	.	14.7876	0.69816	0.0:0.855:0.145:0.0	.	2033;2585	Q4LE79;P15924	.;DESP_HUMAN	C	2585;1986	ENSP00000369129:S2585C;ENSP00000396591:S1986C	ENSP00000369129:S2585C	S	+	2	0	DSP	7530248	0.986000	0.35501	0.802000	0.32245	0.074000	0.17049	2.629000	0.46485	1.444000	0.47605	0.655000	0.94253	TCC		PASS	0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		13	117	13	117	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31833154	31833154	+	Silent	SNP	G	G	A	rs145759335		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:31833154G>A	ENST00000229729.6	-	17	1718	c.1698C>T	c.(1696-1698)taC>taT	p.Y566Y	SLC44A4_ENST00000375562.4_Silent_p.Y524Y|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Silent_p.Y490Y	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	566					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y566Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AATTCTTCCCGTAGATGGCGA	0.552																																						uc010jti.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1696-1698)TAC>TAT		choline transporter-like protein 4	Choline(DB00122)	A	,,	1,4405	2.1+/-5.4	0,1,2202	127.0	130.0	129.0		1572,1470,1698	-9.9	0.6	6	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC44A4	NM_001178044.1,NM_001178045.1,NM_025257.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	524/669,490/635,566/711	31833154	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833154G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1698C>T	6.37:g.31833154G>A						NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	p.Y566Y	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			17	1764	-			566			Helical; (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.1698C>T	CCDS4724.2																																																																																				PASS	0.552	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			13	180	13	180	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36178207	36178207	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:36178207G>A	ENST00000357641.6	+	6	2334	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	BRPF3_ENST00000534400.1_Missense_Mutation_p.R694Q|BRPF3_ENST00000534694.1_Missense_Mutation_p.R694Q|BRPF3_ENST00000339717.7_Missense_Mutation_p.R694Q|BRPF3_ENST00000443324.2_Missense_Mutation_p.R694Q|BRPF3_ENST00000543502.1_Missense_Mutation_p.R694Q	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	694					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.R694Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CGGCACGCCCGGCGGCAGGCA	0.572																																						uc003olv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2080-2082)CGG>CAG		bromodomain and PHD finger containing, 3							42.0	49.0	46.0					6																	36178207		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36178207G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2081G>A	6.37:g.36178207G>A	ENSP00000350267:p.Arg694Gln					BRPF3_uc010jwb.2_Missense_Mutation_p.R694Q|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R694Q	p.R694Q	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			6	2305	+			694					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2081G>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237313	0.58886	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000394572	T;T;T;T;T;T	0.19806	2.34;2.38;2.33;2.38;2.33;2.12	5.56	5.56	0.83823	Bromodomain (3);	0.113791	0.64402	D	0.000007	T	0.14141	0.0342	M	0.71920	2.185	0.51233	D	0.999914	B;B;P	0.38745	0.047;0.265;0.645	B;B;B	0.21151	0.013;0.033;0.013	T	0.08126	-1.0737	10	0.52906	T	0.07	.	19.5263	0.95208	0.0:0.0:1.0:0.0	.	694;694;694	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	Q	694;694;694;694;694;694;108	ENSP00000350267:R694Q;ENSP00000345419:R694Q;ENSP00000434501:R694Q;ENSP00000445352:R694Q;ENSP00000387368:R694Q;ENSP00000436504:R694Q	ENSP00000345419:R694Q	R	+	2	0	BRPF3	36286185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.231000	0.78106	2.608000	0.88229	0.655000	0.94253	CGG		PASS	0.572	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		5	115	5	115	---	---	---	---
MTCH1	23787	broad.mit.edu	37	6	36945884	36945884	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:36945884C>T	ENST00000373627.5	-	4	685	c.561G>A	c.(559-561)atG>atA	p.M187I	MTCH1_ENST00000538808.1_Missense_Mutation_p.M31I|MTCH1_ENST00000373616.5_Missense_Mutation_p.M187I	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	187					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.M187I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGGAAGTCTTCATATCATCCT	0.498																																						uc003ond.1																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)ATG>ATA		mitochondrial carrier homolog 1							160.0	147.0	151.0					6																	36945884		2203	4300	6503	SO:0001583	missense	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36945884C>T	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.561G>A	6.37:g.36945884C>T	ENSP00000362730:p.Met187Ile					MTCH1_uc003onc.1_Missense_Mutation_p.M187I|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.M187I|MTCH1_uc011dtt.1_Missense_Mutation_p.M19I	p.M187I	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN			4	561	-			187					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37	c.561G>A		.	.	.	.	.	.	.	.	.	.	C	14.19	2.461304	0.43736	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373550;ENST00000460219;ENST00000538808	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.49	5.49	0.81192	Mitochondrial carrier domain (2);	0.153691	0.45126	D	0.000396	T	0.16685	0.0401	N	0.14661	0.345	0.43588	D	0.995933	B;B;B;B	0.25667	0.131;0.111;0.017;0.021	B;B;B;B	0.18871	0.023;0.01;0.004;0.004	T	0.02925	-1.1093	10	0.37606	T	0.19	-5.2608	17.9248	0.88980	0.0:1.0:0.0:0.0	.	31;169;187;187	B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.;.;MTCH1_HUMAN;.	I	187;187;123;123;171;31	ENSP00000362718:M187I;ENSP00000362730:M187I;ENSP00000419739:M171I;ENSP00000437660:M31I	ENSP00000338712:M123I	M	-	3	0	MTCH1	37053862	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.168000	0.58216	2.751000	0.94390	0.650000	0.86243	ATG		PASS	0.498	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		5	107	5	107	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37344705	37344705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:37344705G>T	ENST00000373479.4	+	6	1325	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	RNF8_ENST00000469731.1_Nonsense_Mutation_p.E378*	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	378					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E378*(2)|p.E378Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTTGCAGGAAGAGAAGGAGAA	0.403																																						uc003onq.3																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)	ovary(1)	1						c.(1132-1134)GAG>TAG		ring finger protein 8 isoform 1							128.0	117.0	121.0					6																	37344705		2203	4300	6503	SO:0001587	stop_gained	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37344705G>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1132G>T	6.37:g.37344705G>T	ENSP00000362578:p.Glu378*					RNF8_uc003onr.3_Nonsense_Mutation_p.E378*|RNF8_uc011dtx.1_Nonsense_Mutation_p.E310*	p.E378*	NM_003958	NP_003949	O76064	RNF8_HUMAN			6	1325	+			378					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Nonsense_Mutation	SNP	ENST00000373479.4	37	c.1132G>T	CCDS4834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.652149|5.652149	0.96724|0.96724	.|.	.|.	ENSG00000112130|ENSG00000112130	ENST00000373479;ENST00000469731|ENST00000498460	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.67655	.|0.2916	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66536	.|-0.5899	.|4	0.66056|.	D|.	0.02|.	.|.	17.6753|17.6753	0.88229|0.88229	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	378|137	.|.	ENSP00000362578:E378X|.	E|R	+|+	1|2	0|0	RNF8|RNF8	37452683|37452683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	9.869000|9.869000	0.99810|0.99810	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.403	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			4	67	4	67	---	---	---	---
TSPO2	222642	broad.mit.edu	37	6	41011317	41011317	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:41011317G>T	ENST00000373161.1	+	3	440	c.195G>T	c.(193-195)tgG>tgT	p.W65C	TSPO2_ENST00000470917.1_Missense_Mutation_p.W65C|TSPO2_ENST00000373158.2_Intron	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	65					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)	p.W65C(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACCTGGTGTGGAAGGACCTGG	0.572																																						uc003opj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)TGG>TGT		benzodiazapine receptor (peripheral)-like 1							97.0	96.0	96.0					6																	41011317		2203	4300	6503	SO:0001583	missense	222642				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	g.chr6:41011317G>T		CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.195G>T	6.37:g.41011317G>T	ENSP00000362255:p.Trp65Cys					UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Intron|TSPO2_uc011dub.1_Missense_Mutation_p.W65C	p.W65C	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN			3	496	+			65			Helical; (Potential).		B2RPR2|B7ZMN8|Q3SX82	Missense_Mutation	SNP	ENST00000373161.1	37	c.195G>T	CCDS34444.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948184	0.34377	.	.	ENSG00000112212	ENST00000373161;ENST00000470917	T;T	0.51574	0.7;0.7	4.71	4.71	0.59529	.	0.386052	0.31370	N	0.007770	T	0.60431	0.2268	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65409	-0.6175	10	0.87932	D	0	-1.4208	10.9399	0.47268	0.0:0.1897:0.8103:0.0	.	65	Q5TGU0	TSPO2_HUMAN	C	65	ENSP00000362255:W65C;ENSP00000419985:W65C	ENSP00000362255:W65C	W	+	3	0	TSPO2	41119295	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	4.424000	0.59868	2.464000	0.83262	0.313000	0.20887	TGG		PASS	0.572	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1	NM_001010873.2		10	170	10	170	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43190375	43190375	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:43190375G>A	ENST00000252050.4	+	37	7112	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q	CUL9_ENST00000372647.2_Missense_Mutation_p.R2315Q|CUL9_ENST00000354495.3_Missense_Mutation_p.R2233Q|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2343					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R2343Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GAGCAGGCTCGGAAGGTGGTA	0.617																																						uc003ouk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(7027-7029)CGG>CAG		p53-associated parkin-like cytoplasmic protein							23.0	26.0	25.0					6																	43190375		2202	4299	6501	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43190375G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.7028G>A	6.37:g.43190375G>A	ENSP00000252050:p.Arg2343Gln					CUL9_uc003oul.2_Missense_Mutation_p.R2315Q|CUL9_uc010jyk.2_Missense_Mutation_p.R1495Q|CUL9_uc003oun.2_Missense_Mutation_p.R138Q	p.R2343Q	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			37	7103	+			2343					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.7028G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781345	0.90282	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	D;D;T	0.81996	-1.56;-1.54;-1.41	5.03	5.03	0.67393	.	1.621430	0.03862	N	0.274243	D	0.86293	0.5898	L	0.32530	0.975	0.37123	D	0.90089	D;P;P	0.89917	1.0;0.954;0.954	D;B;B	0.69307	0.963;0.336;0.336	T	0.77667	-0.2502	10	0.87932	D	0	-7.5016	18.3665	0.90392	0.0:0.0:1.0:0.0	.	2233;2315;2343	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Q	2343;2233;2315	ENSP00000252050:R2343Q;ENSP00000346490:R2233Q;ENSP00000361730:R2315Q	ENSP00000252050:R2343Q	R	+	2	0	CUL9	43298353	1.000000	0.71417	0.958000	0.39756	0.819000	0.46315	9.453000	0.97619	2.330000	0.79161	0.555000	0.69702	CGG		PASS	0.617	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		8	32	8	32	---	---	---	---
GSTA5	221357	broad.mit.edu	37	6	52699019	52699019	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:52699019A>G	ENST00000370989.2	-	4	363	c.334T>C	c.(334-336)Tgt>Cgt	p.C112R	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.C112R			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	112	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.C112R(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCTGGTTGACATATGAGCAGA	0.378																																						uc003pba.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)TGT>CGT		glutathione S-transferase alpha 5	Glutathione(DB00143)						213.0	204.0	207.0					6																	52699019		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699019A>G	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.334T>C	6.37:g.52699019A>G	ENSP00000360028:p.Cys112Arg						p.C112R	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			5	404	-	Lung NSC(77;0.0912)		112			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.334T>C	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	A	0.091	-1.167467	0.01660	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01887	4.58;4.58	2.58	-2.55	0.06288	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.777490	0.02492	N	0.089545	T	0.00845	0.0028	M	0.74881	2.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49862	-0.8894	10	0.16420	T	0.52	.	0.6063	0.00753	0.377:0.1726:0.1124:0.3379	.	112	Q7RTV2	GSTA5_HUMAN	R	112	ENSP00000360028:C112R;ENSP00000284562:C112R	ENSP00000284562:C112R	C	-	1	0	GSTA5	52806978	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.412000	0.01039	-0.634000	0.05538	0.155000	0.16302	TGT		PASS	0.378	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		6	239	6	239	---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56918751	56918751	+	Missense_Mutation	SNP	C	C	T	rs375554795		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:56918751C>T	ENST00000370733.4	+	4	1661	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V	KIAA1586_ENST00000545356.1_Missense_Mutation_p.A458V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	485							nucleic acid binding (GO:0003676)	p.A485V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCAAGATGGGCGGCATGTAGT	0.368																																						uc003pdj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1453-1455)GCG>GTG		hypothetical protein LOC57691		C	VAL/ALA	0,4396		0,0,2198	46.0	49.0	48.0		1454	-0.2	0.0	6		48	2,8596		0,2,4297	no	missense	KIAA1586	NM_020931.2	64	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	485/788	56918751	2,12992	2198	4299	6497	SO:0001583	missense	57691						nucleic acid binding	g.chr6:56918751C>T	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1454C>T	6.37:g.56918751C>T	ENSP00000359768:p.Ala485Val					KIAA1586_uc011dxm.1_Missense_Mutation_p.A458V	p.A485V	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	1624	+	Lung NSC(77;0.0969)		485					A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	c.1454C>T	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	c	0.057	-1.234479	0.01505	0.0	2.33E-4	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.23950	1.88;1.88	3.85	-0.149	0.13420	Ribonuclease H-like (1);	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	0.999999	B;B	0.32350	0.366;0.366	B;B	0.17722	0.019;0.019	T	0.41822	-0.9487	9	0.10111	T	0.7	-0.1704	3.4397	0.07458	0.0:0.4541:0.2019:0.344	.	458;485	F5H2N6;Q9HCI6	.;K1586_HUMAN	V	485;458	ENSP00000359768:A485V;ENSP00000445507:A458V	ENSP00000359768:A485V	A	+	2	0	KIAA1586	57026710	0.087000	0.21565	0.011000	0.14972	0.989000	0.77384	-0.051000	0.11885	0.055000	0.16094	0.585000	0.79938	GCG		PASS	0.368	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		9	107	9	107	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	64004921	64004921	+	Silent	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:64004921A>G	ENST00000370657.4	-	2	93	c.60T>C	c.(58-60)acT>acC	p.T20T	LGSN_ENST00000370658.5_Silent_p.T20T			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	20					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.T20T(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGTTGGCTTCAGTCTCATTGC	0.353																																						uc003peh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(58-60)ACT>ACC		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						248.0	220.0	230.0					6																	64004921		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004921A>G	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.60T>C	6.37:g.64004921A>G						LGSN_uc003pei.2_Silent_p.T20T|LGSN_uc003pej.1_Silent_p.T20T	p.T20T	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			2	94	-			20					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.60T>C	CCDS4964.1																																																																																				PASS	0.353	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		9	149	9	149	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71567858	71567858	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:71567858G>A	ENST00000370455.3	+	10	1443	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000316999.5_Missense_Mutation_p.V372M|SMAP1_ENST00000370452.3_Missense_Mutation_p.V372M	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	399					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V399M(1)|p.V372M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AGGAGGAATGGTGGGACAAAT	0.547																																						uc003pfr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1195-1197)GTG>ATG		stromal membrane-associated GTPase-activating							82.0	76.0	78.0					6																	71567858		2203	4300	6503	SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71567858G>A	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.1195G>A	6.37:g.71567858G>A	ENSP00000359484:p.Val399Met					SMAP1_uc003pfs.2_Missense_Mutation_p.V372M|SMAP1_uc010kao.2_Missense_Mutation_p.V372M|SMAP1_uc010kap.2_Missense_Mutation_p.V389M	p.V399M	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			10	1443	+			399					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	c.1195G>A	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010312	0.54361	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455	T;T;T	0.24538	2.14;2.15;1.85	5.54	5.54	0.83059	.	0.279538	0.33438	N	0.004901	T	0.39517	0.1081	L	0.49126	1.545	0.80722	D	1	D;D;D;B	0.76494	0.981;0.999;0.999;0.085	P;D;D;B	0.73380	0.635;0.98;0.98;0.02	T	0.10042	-1.0647	10	0.52906	T	0.07	-8.4974	19.5285	0.95215	0.0:0.0:1.0:0.0	.	399;372;372;399	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	M	372;372;399	ENSP00000359481:V372M;ENSP00000313382:V372M;ENSP00000359484:V399M	ENSP00000313382:V372M	V	+	1	0	SMAP1	71624579	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.408000	0.59761	2.611000	0.88343	0.555000	0.69702	GTG		PASS	0.547	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		9	83	9	83	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86329009	86329009	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:86329009C>G	ENST00000369622.3	-	9	1635	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.D379H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	379	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|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)|RNA binding (GO:0003723)	p.D379H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCTCGCTCATCAAAATGAATG	0.338																																						uc003pla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)GAT>CAT		synaptotagmin binding, cytoplasmic RNA							134.0	129.0	130.0					6																	86329009		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86329009C>G	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1135G>C	6.37:g.86329009C>G	ENSP00000358635:p.Asp379His					SYNCRIP_uc003pku.2_Missense_Mutation_p.D379H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D344H|SYNCRIP_uc003pky.2_Missense_Mutation_p.D281H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D379H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D227H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D344H	p.D379H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	9	1676	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	379			RRM 3.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1135G>C	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370057	0.61624	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.17213	2.29;2.29	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.094302	0.64402	D	0.000001	T	0.22282	0.0537	L	0.43646	1.37	0.58432	D	0.999997	B;D;B;P;P;B;B	0.54207	0.355;0.965;0.079;0.502;0.897;0.134;0.355	B;P;B;B;P;B;B	0.55824	0.371;0.725;0.018;0.248;0.785;0.163;0.371	T	0.00880	-1.1529	10	0.72032	D	0.01	.	19.0791	0.93175	0.0:1.0:0.0:0.0	.	379;344;281;227;344;379;379	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	H	379	ENSP00000347380:D379H;ENSP00000358635:D379H	ENSP00000347380:D379H	D	-	1	0	SYNCRIP	86385728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.012000	0.70767	2.577000	0.86979	0.655000	0.94253	GAT		PASS	0.338	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		18	155	18	155	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101296201	101296201	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:101296201G>A	ENST00000369162.2	-	4	968	c.624C>T	c.(622-624)tgC>tgT	p.C208C	ASCC3_ENST00000522650.1_Silent_p.C208C	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	208					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.C208C(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTCTGGGGTGCAAGCCTCCT	0.393																																						uc003pqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(622-624)TGC>TGT		activating signal cointegrator 1 complex subunit							62.0	65.0	64.0					6																	101296201		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101296201G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.624C>T	6.37:g.101296201G>A						ASCC3_uc011eai.1_Silent_p.C110C|ASCC3_uc003pql.2_Silent_p.C208C|ASCC3_uc010kcv.2_Silent_p.C208C	p.C208C	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	4	953	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	208					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.624C>T	CCDS5046.1																																																																																				PASS	0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		9	103	9	103	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106987389	106987389	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:106987389G>A	ENST00000369066.3	+	7	4093	c.3606G>A	c.(3604-3606)atG>atA	p.M1202I	AIM1_ENST00000535438.1_5'Flank	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.M1202I(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)		TTGGATCCATGCGGCCTCTGA	0.433																																						uc003prh.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3604-3606)ATG>ATA		absent in melanoma 1							124.0	121.0	122.0					6																	106987389		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106987389G>A	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.3606G>A	6.37:g.106987389G>A	ENSP00000358062:p.Met1202Ile					AIM1_uc003pri.2_5'Flank	p.M1202I	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)	7	4093	+	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)	1202			Beta/gamma crystallin 'Greek key' 4.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3606G>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.122975	0.77436	.	.	ENSG00000112297	ENST00000369066	T	0.73897	-0.79	5.66	4.8	0.61643	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.248354	0.48286	N	0.000194	T	0.52613	0.1745	N	0.16233	0.39	0.80722	D	1	B	0.29188	0.236	B	0.40982	0.345	T	0.60586	-0.7234	10	0.54805	T	0.06	.	10.973	0.47450	0.1424:0.0:0.8576:0.0	.	1202	Q9Y4K1	AIM1_HUMAN	I	1202	ENSP00000358062:M1202I	ENSP00000358062:M1202I	M	+	3	0	AIM1	107094082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.512000	0.45485	1.401000	0.46761	-0.119000	0.15052	ATG		PASS	0.433	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			9	124	9	124	---	---	---	---
PDSS2	57107	broad.mit.edu	37	6	107780271	107780271	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:107780271C>T	ENST00000369037.4	-	1	496	c.219G>A	c.(217-219)ctG>ctA	p.L73L	PDSS2_ENST00000453874.2_Silent_p.L73L|PDSS2_ENST00000369031.4_Silent_p.L73L	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	73					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.L73L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GCTCGTCGCTCAGCAGGCAGC	0.622											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003prt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(217-219)CTG>CTA		prenyl diphosphate synthase, subunit 2							53.0	52.0	53.0					6																	107780271		2203	4300	6503	SO:0001819	synonymous_variant	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107780271C>T	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.219G>A	6.37:g.107780271C>T			OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Silent_p.L73L|PDSS2_uc003pru.2_Silent_p.L73L|PDSS2_uc003prv.2_Silent_p.L73L	p.L73L	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	1	509	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	73					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	ENST00000369037.4	37	c.219G>A	CCDS5059.1																																																																																				PASS	0.622	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		8	86	8	86	---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768435	121768435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:121768435C>T	ENST00000282561.3	+	2	599	c.442C>T	c.(442-444)Cga>Tga	p.R148*		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	148			R -> Q (in dbSNP:rs2228960). {ECO:0000269|PubMed:14729836}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.R148*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGTGAAAATGCGAGGGGGGTT	0.453																																						uc003pyr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(442-444)CGA>TGA		connexin 43	Carvedilol(DB01136)						122.0	116.0	118.0					6																	121768435		2203	4300	6503	SO:0001587	stop_gained	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768435C>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.442C>T	6.37:g.121768435C>T	ENSP00000282561:p.Arg148*					GJA1_uc011ebo.1_Nonsense_Mutation_p.R49*|GJA1_uc011ebp.1_Intron	p.R148*	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	692	+			148			Cytoplasmic (Potential).		B2R5U9|Q6FHU1|Q9Y5I8	Nonsense_Mutation	SNP	ENST00000282561.3	37	c.442C>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948563	0.53186	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	.	.	.	5.42	3.56	0.40772	.	0.056566	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9312	0.52847	0.1414:0.7305:0.1281:0.0	.	.	.	.	X	132;148	.	ENSP00000282561:R148X	R	+	1	2	GJA1	121810134	1.000000	0.71417	0.941000	0.38009	0.102000	0.19082	4.014000	0.57145	0.610000	0.30035	0.460000	0.39030	CGA		PASS	0.453	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		7	114	7	114	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129591883	129591883	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:129591883A>G	ENST00000421865.2	+	17	2486	c.2437A>G	c.(2437-2439)Atc>Gtc	p.I813V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	813	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.I813V(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCACTCAATATCCCATCCAA	0.418																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(2437-2439)ATC>GTC		laminin alpha 2 subunit isoform a precursor							120.0	112.0	115.0					6																	129591883		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129591883A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2437A>G	6.37:g.129591883A>G	ENSP00000400365:p.Ile813Val					LAMA2_uc003qbo.2_Missense_Mutation_p.I813V	p.I813V	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	17	2542	+			813			Laminin EGF-like 7.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2437A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690465	0.29962	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.60920	0.15	5.82	4.67	0.58626	EGF-like, laminin (3);	0.137743	0.48767	N	0.000163	T	0.20210	0.0486	N	0.25286	0.73	0.32353	N	0.558195	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.07309	-1.0779	10	0.12766	T	0.61	.	11.6047	0.51024	0.9307:0.0:0.0693:0.0	.	813;813	A6NF00;P24043	.;LAMA2_HUMAN	V	813	ENSP00000400365:I813V	ENSP00000346769:I813V	I	+	1	0	LAMA2	129633576	0.144000	0.22641	0.997000	0.53966	0.995000	0.86356	3.289000	0.51747	1.042000	0.40150	0.482000	0.46254	ATC		PASS	0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	109	5	109	---	---	---	---
SLC35D3	340146	broad.mit.edu	37	6	137245683	137245683	+	Missense_Mutation	SNP	C	C	G	rs201799622	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:137245683C>G	ENST00000331858.4	+	2	1265	c.1100C>G	c.(1099-1101)cCc>cGc	p.P367R		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	367					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.P367R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AGGGGCAGCCCCCGAGGAGTC	0.637																																						uc003qhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1099-1101)CCC>CGC		solute carrier family 35, member D3							49.0	56.0	54.0					6																	137245683		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245683C>G		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1100C>G	6.37:g.137245683C>G	ENSP00000333591:p.Pro367Arg						p.P367R	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1265	+	Colorectal(23;0.24)		367					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.1100C>G	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	C	2.325	-0.354681	0.05138	.	.	ENSG00000182747	ENST00000331858	T	0.54675	0.56	6.06	2.2	0.27929	.	0.575476	0.17900	N	0.158221	T	0.14527	0.0351	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19943	-1.0290	10	0.44086	T	0.13	-7.4145	7.9051	0.29757	0.0:0.646:0.1245:0.2294	.	367	Q5M8T2	S35D3_HUMAN	R	367	ENSP00000333591:P367R	ENSP00000333591:P367R	P	+	2	0	SLC35D3	137287376	0.000000	0.05858	0.961000	0.40146	0.156000	0.22039	0.121000	0.15667	0.847000	0.35167	0.655000	0.94253	CCC		PASS	0.637	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		4	47	4	47	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138196093	138196093	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:138196093G>A	ENST00000237289.4	+	3	473	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	136	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.R136fs*4(1)|p.W113_F140del(1)|p.R136H(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACAGACACACGCAACTTTAAA	0.488			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2				Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		28	Whole gene deletion(25)|Substitution - Missense(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(22)|p.R136fs*3(1)	haematopoietic_and_lymphoid_tissue(27)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(406-408)CGC>CAC		tumor necrosis factor, alpha-induced protein 3							123.0	119.0	120.0					6																	138196093		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138196093G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.407G>A	6.37:g.138196093G>A	ENSP00000237289:p.Arg136His					TNFAIP3_uc003qhs.2_Missense_Mutation_p.R136H	p.R136H	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	3	473	+	Breast(32;0.135)|Colorectal(23;0.24)		136			TRAF-binding.|OTU.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.407G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571563	0.86542	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.29917	1.55;1.55	5.97	5.1	0.69264	Ovarian tumour, otubain (2);	0.220159	0.48767	D	0.000177	T	0.30978	0.0782	M	0.62266	1.93	0.49483	D	0.99979	D	0.69078	0.997	P	0.51895	0.683	T	0.15665	-1.0429	10	0.62326	D	0.03	-3.5671	13.5378	0.61655	0.072:0.0:0.928:0.0	.	136	P21580	TNAP3_HUMAN	H	136	ENSP00000401562:R136H;ENSP00000237289:R136H	ENSP00000237289:R136H	R	+	2	0	TNFAIP3	138237786	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	3.280000	0.51677	1.526000	0.49068	-0.140000	0.14226	CGC		PASS	0.488	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			6	109	6	109	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150004302	150004302	+	Silent	SNP	G	G	A	rs35163691		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:150004302G>A	ENST00000543571.1	-	4	2470	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	LATS1_ENST00000392273.3_Silent_p.F641F|LATS1_ENST00000253339.5_Silent_p.F641F|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.F641F(2)|p.F641L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTCCATAAAGAATTTAAATG	0.338																																						uc003qmu.1																			4	Substitution - Missense(2)|Substitution - coding silent(2)		large_intestine(2)|lung(2)	lung(5)|central_nervous_system(1)	6						c.(1921-1923)TTC>TTT		LATS homolog 1							109.0	94.0	99.0					6																	150004302		2203	4300	6503	SO:0001819	synonymous_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004302G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1923C>T	6.37:g.150004302G>A						LATS1_uc010kif.1_Silent_p.F536F|LATS1_uc003qmv.1_Silent_p.F641F|LATS1_uc003qmw.2_Silent_p.F641F|LATS1_uc010kig.1_Silent_p.F536F	p.F641F	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	2471	-		Ovarian(120;0.0164)	641			Interaction with YAP1.			Silent	SNP	ENST00000543571.1	37	c.1923C>T	CCDS34551.1																																																																																				PASS	0.338	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		10	103	10	103	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151869452	151869452	+	Missense_Mutation	SNP	G	G	A	rs200538059		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:151869452G>A	ENST00000239374.7	+	5	701	c.602G>A	c.(601-603)cGc>cAc	p.R201H	CCDC170_ENST00000367290.5_Missense_Mutation_p.R201H	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	201								p.R201H(1)									AGAGACCTGCGCAAAGAAAAT	0.353																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)CGC>CAC		hypothetical protein LOC80129		G	HIS/ARG	0,3670		0,0,1835	59.0	54.0	56.0		602	3.3	1.0	6		56	1,8157		0,1,4078	yes	missense	C6orf97	NM_025059.3	29	0,1,5913	AA,AG,GG		0.0123,0.0,0.0085	benign	201/716	151869452	1,11827	1835	4079	5914	SO:0001583	missense	80129							g.chr6:151869452G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.602G>A	6.37:g.151869452G>A	ENSP00000239374:p.Arg201His						p.R201H	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	5	691	+		Ovarian(120;0.126)	201			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.602G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691904	0.15039	0.0	1.23E-4	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10099	2.91;2.91	5.48	3.32	0.38043	.	0.552403	0.19336	N	0.116789	T	0.01156	0.0038	N	0.02011	-0.69	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.15499	T	0.54	1.1149	10.969	0.47428	0.2274:0.0:0.7726:0.0	.	201	Q8IYT3	CF097_HUMAN	H	201	ENSP00000239374:R201H;ENSP00000356259:R201H	ENSP00000239374:R201H	R	+	2	0	C6orf97	151911145	1.000000	0.71417	0.993000	0.49108	0.723000	0.41478	1.873000	0.39558	1.271000	0.44313	0.585000	0.79938	CGC		PASS	0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		5	47	5	47	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158509790	158509790	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr6:158509790G>A	ENST00000355585.4	+	24	3517	c.3442G>A	c.(3442-3444)Gca>Aca	p.A1148T	SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1103T|SYNJ2_ENST00000367121.3_Missense_Mutation_p.A1148T|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A233T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1148					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.A1148T(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTACCAGGAGCACCTCAGCA	0.478																																						uc003qqx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3442-3444)GCA>ACA		synaptojanin 2							88.0	89.0	89.0					6																	158509790		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158509790G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3442G>A	6.37:g.158509790G>A	ENSP00000347792:p.Ala1148Thr					SYNJ2_uc003qqw.1_Missense_Mutation_p.A1148T|SYNJ2_uc003qqy.1_Missense_Mutation_p.A861T|SYNJ2_uc003qqz.1_Missense_Mutation_p.A765T|SYNJ2_uc003qra.1_Missense_Mutation_p.A491T|SYNJ2_uc010kjp.1_Missense_Mutation_p.A31T	p.A1148T	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	24	3517	+			1148			Catalytic (By similarity).		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3442G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494745	0.85069	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94280	-3.27;-3.39;-3.25;0.69	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000028	D	0.94328	0.8177	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.94297	0.7534	10	0.51188	T	0.08	.	19.3497	0.94378	0.0:0.0:1.0:0.0	.	543;1148;1148	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	T	1103;1148;1148;233	ENSP00000356089:A1103T;ENSP00000356088:A1148T;ENSP00000347792:A1148T;ENSP00000356079:A233T	ENSP00000347792:A1148T	A	+	1	0	SYNJ2	158429778	1.000000	0.71417	0.943000	0.38184	0.689000	0.40095	6.260000	0.72502	2.576000	0.86940	0.585000	0.79938	GCA		PASS	0.478	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			6	98	6	98	---	---	---	---
BRAT1	221927	broad.mit.edu	37	7	2578022	2578022	+	Missense_Mutation	SNP	G	G	A	rs140802292	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:2578022G>A	ENST00000340611.4	-	14	2403	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	716					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.A716V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGACTTCTGCGCCACAGGGCG	0.627													G|||	4	0.000798722	0.003	0.0	5008	,	,		18137	0.0		0.0	False		,,,				2504	0.0					uc003smi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2146-2148)GCG>GTG		hypothetical protein LOC221927 precursor		G	VAL/ALA	9,4397	15.5+/-35.6	0,9,2194	51.0	61.0	58.0		2147	5.3	1.0	7	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BRAT1	NM_152743.3	64	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	probably-damaging	716/822	2578022	10,12996	2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2578022G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2147C>T	7.37:g.2578022G>A	ENSP00000339637:p.Ala716Val					C7orf27_uc003smh.3_Missense_Mutation_p.A148V	p.A716V	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	14	2189	-		Ovarian(82;0.0779)	716					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.2147C>T	CCDS5334.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.2	4.509700	0.85282	0.002043	1.16E-4	ENSG00000106009	ENST00000340611	T	0.37235	1.21	5.27	5.27	0.74061	.	0.214824	0.47093	D	0.000241	T	0.58991	0.2161	M	0.71581	2.175	0.45439	D	0.998418	D	0.89917	1.0	D	0.70016	0.967	T	0.62421	-0.6858	10	0.72032	D	0.01	-31.4975	15.475	0.75471	0.0:0.1487:0.8513:0.0	.	716	Q6PJG6	BRAT1_HUMAN	V	716	ENSP00000339637:A716V	ENSP00000339637:A716V	A	-	2	0	BRAT1	2544548	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	4.230000	0.58632	2.455000	0.83008	0.561000	0.74099	GCG		PASS	0.627	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		9	107	9	107	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6189851	6189851	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:6189851C>T	ENST00000306177.5	+	13	2182	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	675					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.A675V(1)|p.A803V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACGGCCTAGCGCCTGATGGT	0.562																																						uc011jwo.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(2023-2025)GCG>GTG		ubiquitin specific peptidase 42							32.0	36.0	34.0					7																	6189851		2060	4194	6254	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189851C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2024C>T	7.37:g.6189851C>T	ENSP00000301962:p.Ala675Val					USP42_uc010kth.1_Missense_Mutation_p.A608V|USP42_uc011jwp.1_Missense_Mutation_p.A675V|USP42_uc011jwq.1_Missense_Mutation_p.A482V|USP42_uc011jwr.1_Missense_Mutation_p.A520V	p.A675V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	2147	+		Ovarian(82;0.0423)	675					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.2024C>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369166	0.24771	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.47177	0.85;0.85	5.83	2.74	0.32292	.	1.448360	0.03809	N	0.265659	T	0.28101	0.0693	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.002;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.18147	-1.0346	10	0.37606	T	0.19	.	3.6091	0.08053	0.1788:0.4475:0.0:0.3737	.	638;675;675;675	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	V	675;521	ENSP00000301962:A675V;ENSP00000408217:A521V	ENSP00000301962:A675V	A	+	2	0	USP42	6156377	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.345000	0.19979	0.628000	0.30357	0.650000	0.86243	GCG		PASS	0.562	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		5	30	5	30	---	---	---	---
BLVRA	644	broad.mit.edu	37	7	43843318	43843318	+	Silent	SNP	C	C	T	rs146563888		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:43843318C>T	ENST00000402924.1	+	8	667	c.504C>T	c.(502-504)agC>agT	p.S168S	BLVRA_ENST00000265523.4_Silent_p.S168S	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	168					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.S168S(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						CTGCATTCAGCGGCATCTCTC	0.522																																						uc003tir.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(502-504)AGC>AGT		biliverdin reductase A precursor	NADH(DB00157)	C		0,4406		0,0,2203	169.0	174.0	172.0		504	-2.4	1.0	7	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BLVRA	NM_000712.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/297	43843318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43843318C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.504C>T	7.37:g.43843318C>T						BLVRA_uc010kxv.2_Silent_p.S168S	p.S168S	NM_000712	NP_000703	P53004	BIEA_HUMAN			7	587	+			168					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	c.504C>T	CCDS5472.1																																																																																				PASS	0.522	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		9	286	9	286	---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45009408	45009408	+	Missense_Mutation	SNP	C	C	T	rs150434835	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:45009408C>T	ENST00000258787.7	-	11	1535	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	467	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V467M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCGTCCAGCACGGCCAGGATG	0.607																																						uc003tmh.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|pancreas(1)	4						c.(1399-1401)GTG>ATG		myosin IG		T	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	109.0	112.0	111.0		1399	-0.5	0.5	7	dbSNP_134	111	1,8597	1.2+/-3.3	0,1,4298	yes	missense	MYO1G	NM_033054.2	21	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	benign	467/1019	45009408	3,13001	2203	4299	6502	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45009408C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1399G>A	7.37:g.45009408C>T	ENSP00000258787:p.Val467Met					MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Missense_Mutation_p.V229M|MYO1G_uc010kym.2_Missense_Mutation_p.V352M|MYO1G_uc003tmi.1_Missense_Mutation_p.V379M|MYO1G_uc003tmj.2_Missense_Mutation_p.V229M	p.V467M	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			11	1543	-			467			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.1399G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	c	15.93	2.979563	0.53827	4.54E-4	1.16E-4	ENSG00000136286	ENST00000258787	T	0.72051	-0.62	4.39	-0.469	0.12142	Myosin head, motor domain (3);	0.521506	0.14668	N	0.305562	T	0.58524	0.2128	N	0.13098	0.295	0.09310	N	0.999992	D;B	0.58268	0.982;0.439	P;B	0.54629	0.757;0.165	T	0.51220	-0.8733	10	0.62326	D	0.03	.	4.1816	0.10378	0.1613:0.3789:0.0:0.4598	.	467;467	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	467	ENSP00000258787:V467M	ENSP00000258787:V467M	V	-	1	0	MYO1G	44975933	0.005000	0.15991	0.466000	0.27168	0.960000	0.62799	0.071000	0.14594	-0.002000	0.14469	-0.215000	0.12644	GTG		PASS	0.607	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			24	176	24	176	---	---	---	---
CLDN3	1365	broad.mit.edu	37	7	73184230	73184230	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:73184230C>A	ENST00000395145.2	-	1	370	c.150G>T	c.(148-150)tgG>tgT	p.W50C		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	50					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.W50C(1)		kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGCAGTTCATCCACAGGCCCT	0.647																																						uc003tzg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)TGG>TGT		claudin 3							83.0	70.0	75.0					7																	73184230		2203	4300	6503	SO:0001583	missense	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73184230C>A	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.150G>T	7.37:g.73184230C>A	ENSP00000378577:p.Trp50Cys					RFC2_uc011kfa.1_Intron	p.W50C	NM_001306	NP_001297	O15551	CLD3_HUMAN			1	371	-		Lung NSC(55;0.159)	50			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000395145.2	37	c.150G>T	CCDS5559.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403847	0.83230	.	.	ENSG00000165215	ENST00000395145	D	0.98493	-4.96	4.83	4.83	0.62350	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98104	1.0416	10	0.87932	D	0	.	15.4313	0.75102	0.0:1.0:0.0:0.0	.	50	O15551	CLD3_HUMAN	C	50	ENSP00000378577:W50C	ENSP00000378577:W50C	W	-	3	0	CLDN3	72822166	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.773000	0.85462	2.219000	0.72066	0.555000	0.69702	TGG		PASS	0.647	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		5	59	5	59	---	---	---	---
HSPB1	3315	broad.mit.edu	37	7	75933484	75933484	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:75933484C>T	ENST00000248553.6	+	3	781	c.612C>T	c.(610-612)gcC>gcT	p.A204A	HSPB1_ENST00000429938.1_Silent_p.A36A	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	204	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)	p.A204A(1)		large_intestine(1)|lung(3)	4						AGACTGCCGCCAAGTAAAGCC	0.582																																						uc003uew.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(610-612)GCC>GCT		heat shock protein beta-1							14.0	16.0	15.0					7																	75933484		2201	4299	6500	SO:0001819	synonymous_variant	3315				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding	g.chr7:75933484C>T	X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"""Heat shock proteins / HSPB"""	5246	protein-coding gene	gene with protein product		602195	"""heat shock 27kD protein 1"""			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.612C>T	7.37:g.75933484C>T						HSPB1_uc010ldj.1_RNA|uc003uey.1_5'Flank	p.A204A	NM_001540	NP_001531	P04792	HSPB1_HUMAN			3	767	+			204			Interaction with TGFB1I1 (By similarity).		B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Silent	SNP	ENST00000248553.6	37	c.612C>T	CCDS5583.1																																																																																				PASS	0.582	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252958.1			3	12	3	12	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964767	88964767	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:88964767G>T	ENST00000333190.4	+	4	3080	c.2471G>T	c.(2470-2472)aGa>aTa	p.R824I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	824							metal ion binding (GO:0046872)	p.R824I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATCTACGAGAATCATCTAT	0.363										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2470-2472)AGA>ATA		zinc finger protein 804B							48.0	49.0	48.0					7																	88964767		2199	4288	6487	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964767G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2471G>T	7.37:g.88964767G>T	ENSP00000329638:p.Arg824Ile	HNSCC(36;0.09)					p.R824I	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3009	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		824					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2471G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.874016	0.33069	.	.	ENSG00000182348	ENST00000333190	T	0.07688	3.17	4.89	3.04	0.35103	.	0.406049	0.26355	N	0.024846	T	0.09379	0.0231	L	0.27053	0.805	0.09310	N	1	P	0.50272	0.933	P	0.49665	0.618	T	0.09335	-1.0679	10	0.62326	D	0.03	-3.8698	9.4271	0.38586	0.08:0.1469:0.7731:0.0	.	824	A4D1E1	Z804B_HUMAN	I	824	ENSP00000329638:R824I	ENSP00000329638:R824I	R	+	2	0	ZNF804B	88802703	0.001000	0.12720	0.005000	0.12908	0.026000	0.11368	0.692000	0.25482	1.403000	0.46800	0.655000	0.94253	AGA		PASS	0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		6	86	6	86	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91855866	91855866	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:91855866G>C	ENST00000340022.2	-	11	2138	c.1120C>G	c.(1120-1122)Ctc>Gtc	p.L374V	KRIT1_ENST00000394505.2_Missense_Mutation_p.L374V|KRIT1_ENST00000412043.2_Missense_Mutation_p.L374V|KRIT1_ENST00000394503.2_Missense_Mutation_p.L326V|KRIT1_ENST00000394507.1_Missense_Mutation_p.L374V	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	374					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.L374V(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGTTTAGGAGAATCTGTACT	0.343																																						uc003ulq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1120-1122)CTC>GTC		krev interaction trapped 1 isoform 1							117.0	117.0	117.0					7																	91855866		2203	4300	6503	SO:0001583	missense	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91855866G>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1120C>G	7.37:g.91855866G>C	ENSP00000344668:p.Leu374Val					KRIT1_uc010lev.1_Missense_Mutation_p.L167V|KRIT1_uc003ulr.1_Missense_Mutation_p.L374V|KRIT1_uc003uls.1_Missense_Mutation_p.L374V|KRIT1_uc003ult.1_Missense_Mutation_p.L326V|KRIT1_uc003ulu.1_Missense_Mutation_p.L374V|KRIT1_uc003ulv.1_Missense_Mutation_p.L374V	p.L374V	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1291	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		374			ANK 3.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.1120C>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500240	0.85176	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000445516	D;D;D;D;T;D	0.89939	-1.92;-1.92;-1.92;-1.92;-0.76;-2.59	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.97659	4.05	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.992	D;D;D	0.87578	0.987;0.998;0.987	D	0.97910	1.0308	10	0.87932	D	0	1.7098	19.7529	0.96275	0.0:0.0:1.0:0.0	.	374;326;374	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	V	374;374;374;374;326;374;136	ENSP00000378015:L374V;ENSP00000344668:L374V;ENSP00000410909:L374V;ENSP00000378013:L374V;ENSP00000378011:L326V;ENSP00000404084:L136V	ENSP00000344668:L374V	L	-	1	0	KRIT1	91693802	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.516000	0.73755	2.668000	0.90789	0.460000	0.39030	CTC		PASS	0.343	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			14	108	14	108	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	91980322	91980322	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:91980322G>C	ENST00000265742.3	+	8	1520	c.1144G>C	c.(1144-1146)Gat>Cat	p.D382H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	382							zinc ion binding (GO:0008270)	p.D382H(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCCTGCATATGATTGCTTCCA	0.358																																						uc003ulw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1144-1146)GAT>CAT		ankyrin repeat and IBR domain containing 1							116.0	110.0	112.0					7																	91980322		1857	4101	5958	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91980322G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1144G>C	7.37:g.91980322G>C	ENSP00000265742:p.Asp382His						p.D382H	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1520	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		382			RING-type 1; atypical.		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1144G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670653	0.67814	.	.	ENSG00000001629	ENST00000265742	T	0.10763	2.84	5.59	5.59	0.84812	.	0.105006	0.64402	D	0.000005	T	0.12347	0.0300	L	0.33245	0.995	0.58432	D	0.999996	B	0.16166	0.016	B	0.12156	0.007	T	0.06570	-1.0819	10	0.56958	D	0.05	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	382	Q9P2G1	AKIB1_HUMAN	H	382	ENSP00000265742:D382H	ENSP00000265742:D382H	D	+	1	0	ANKIB1	91818258	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.145000	0.94634	2.782000	0.95742	0.557000	0.71058	GAT		PASS	0.358	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			3	24	3	24	---	---	---	---
ARPC1A	10552	broad.mit.edu	37	7	98955978	98955978	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:98955978G>C	ENST00000262942.5	+	7	853	c.729G>C	c.(727-729)aaG>aaC	p.K243N	ARPC1A_ENST00000432884.2_Missense_Mutation_p.K196N|ARPC1A_ENST00000471960.1_3'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	243					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)	p.K243N(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CGACTCTGAAGACAGAGTTCC	0.463																																						uc003upx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)AAG>AAC		actin related protein 2/3 complex subunit 1A							159.0	136.0	144.0					7																	98955978		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98955978G>C	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.729G>C	7.37:g.98955978G>C	ENSP00000262942:p.Lys243Asn					ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.K229N|ARPC1A_uc011kit.1_RNA	p.K243N	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	876	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		243					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.729G>C	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984730	0.18889	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66815	-0.23;-0.23	5.07	-2.47	0.06442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.044811	0.85682	D	0.000000	T	0.52996	0.1769	L	0.45581	1.43	0.44330	D	0.997213	B;B	0.15141	0.007;0.012	B;B	0.18263	0.017;0.021	T	0.31251	-0.9950	10	0.23302	T	0.38	.	11.8282	0.52280	0.4381:0.0:0.5619:0.0	.	238;243	Q53GB6;Q92747	.;ARC1A_HUMAN	N	196;243	ENSP00000408578:K196N;ENSP00000262942:K243N	ENSP00000262942:K243N	K	+	3	2	ARPC1A	98793914	0.965000	0.33210	0.771000	0.31576	0.407000	0.30961	-0.016000	0.12613	-0.640000	0.05495	-0.241000	0.12123	AAG		PASS	0.463	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		9	76	9	76	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100490391	100490391	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:100490391C>T	ENST00000412389.1	-	2	1272	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R	ACHE_ENST00000428317.1_Missense_Mutation_p.G373R|ACHE_ENST00000241069.5_Missense_Mutation_p.G373R|ACHE_ENST00000302913.4_Missense_Mutation_p.G373R|ACHE_ENST00000411582.1_Missense_Mutation_p.G373R|ACHE_ENST00000419336.2_Intron			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	373					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.G373R(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCTGGGGCCCCGTAAACCAGA	0.632																																						uc003uxd.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1117-1119)GGG>AGG		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						20.0	23.0	22.0					7																	100490391		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490391C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1117G>A	7.37:g.100490391C>T	ENSP00000394976:p.Gly373Arg					ACHE_uc003uxe.2_Missense_Mutation_p.G373R|ACHE_uc003uxf.2_Missense_Mutation_p.G373R|ACHE_uc003uxg.2_Missense_Mutation_p.G373R|ACHE_uc003uxh.2_Intron|ACHE_uc003uxi.2_Missense_Mutation_p.G373R	p.G373R	NM_000665	NP_000656	P22303	ACES_HUMAN			2	1273	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		373					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.1117G>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650383	0.47362	.	.	ENSG00000087085	ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	4.12	4.12	0.48240	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.65498	2.005	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.16689	-1.0394	10	0.27082	T	0.32	.	13.8771	0.63660	0.0:1.0:0.0:0.0	.	373;373	P22303-2;P22303	.;ACES_HUMAN	R	373	ENSP00000241069:G373R;ENSP00000414858:G373R;ENSP00000303211:G373R;ENSP00000394976:G373R;ENSP00000399725:G373R;ENSP00000404865:G373R	ENSP00000241069:G373R	G	-	1	0	ACHE	100328327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.286000	0.58995	2.143000	0.66587	0.491000	0.48974	GGG		PASS	0.632	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		4	26	4	26	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686564	100686564	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:100686564C>A	ENST00000306151.4	+	3	11931	c.11867C>A	c.(11866-11868)gCa>gAa	p.A3956E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3956					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A3956E(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCTTTCCTGCAACAACTGGT	0.443																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11866-11868)GCA>GAA		mucin 17 precursor							162.0	161.0	161.0					7																	100686564		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686564C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11867C>A	7.37:g.100686564C>A	ENSP00000302716:p.Ala3956Glu					MUC17_uc010lho.1_RNA	p.A3956E	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11920	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3956			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11867C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	9.237	1.037427	0.19669	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	1.36	1.36	0.22044	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.21897	N	0.999486	P	0.47762	0.9	B	0.43990	0.438	T	0.20075	-1.0286	9	0.05351	T	0.99	.	6.0479	0.19770	0.0:1.0:0.0:0.0	.	3956	Q685J3	MUC17_HUMAN	E	3956	ENSP00000302716:A3956E	ENSP00000302716:A3956E	A	+	2	0	MUC17	100473284	.	.	0.047000	0.18901	0.031000	0.12232	.	.	0.740000	0.32651	0.424000	0.28305	GCA		PASS	0.443	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		28	147	28	147	---	---	---	---
TRIM56	81844	broad.mit.edu	37	7	100731660	100731660	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:100731660C>A	ENST00000306085.6	+	3	1364	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	356					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P356H(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGCTCCATCCTGGGCTCCTG	0.667																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2																			2	Substitution - Missense(2)	p.P356S(1)	lung(2)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(1066-1068)CCT>CAT		tripartite motif-containing 56							21.0	24.0	23.0					7																	100731660		1919	4134	6053	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100731660C>A	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1067C>A	7.37:g.100731660C>A	ENSP00000305161:p.Pro356His					TRIM56_uc003uxr.2_Intron	p.P356H	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	1298	+	Lung NSC(181;0.136)|all_lung(186;0.182)		356					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1067C>A	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654897	0.47467	.	.	ENSG00000169871	ENST00000306085	T	0.51574	0.7	3.58	3.58	0.41010	.	.	.	.	.	T	0.43055	0.1230	N	0.08118	0	0.34792	D	0.735808	D	0.89917	1.0	D	0.77557	0.99	T	0.40194	-0.9576	9	0.15952	T	0.53	.	10.9759	0.47465	0.0:1.0:0.0:0.0	.	356	Q9BRZ2	TRI56_HUMAN	H	356	ENSP00000305161:P356H	ENSP00000305161:P356H	P	+	2	0	TRIM56	100518380	0.004000	0.15560	0.988000	0.46212	0.884000	0.51177	1.250000	0.32850	2.269000	0.75478	0.455000	0.32223	CCT		PASS	0.667	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		6	28	6	28	---	---	---	---
SLC26A5	375611	broad.mit.edu	37	7	103048320	103048320	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:103048320G>A	ENST00000306312.3	-	8	1127	c.866C>T	c.(865-867)cCt>cTt	p.P289L	SLC26A5_ENST00000339444.6_Missense_Mutation_p.P289L|SLC26A5_ENST00000393729.1_Missense_Mutation_p.P252L|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P289L|SLC26A5_ENST00000393735.2_Missense_Mutation_p.P289L|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P289L|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Missense_Mutation_p.P289L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.P289L|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P289L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	289					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.P289L(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TAAAGGAATAGGCGCCGGCAA	0.458																																						uc003vbz.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(865-867)CCT>CTT		prestin isoform a							82.0	85.0	84.0					7																	103048320		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103048320G>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.866C>T	7.37:g.103048320G>A	ENSP00000304783:p.Pro289Leu					SLC26A5_uc003vbt.1_Missense_Mutation_p.P289L|SLC26A5_uc003vbu.1_Missense_Mutation_p.P289L|SLC26A5_uc003vbv.1_Missense_Mutation_p.P289L|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.P289L|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.P289L	NM_198999	NP_945350	P58743	S26A5_HUMAN			8	1102	-			289			Helical; Name=7; (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.866C>T	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972798	0.92919	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.36	5.36	0.76844	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	M	0.87328	2.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999	D	0.97652	1.0155	10	0.87932	D	0	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	289;289;289;289;289	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	L	289;289;289;289;289;289;252;289;289	ENSP00000342396:P289L;ENSP00000349210:P289L;ENSP00000377336:P289L;ENSP00000304783:P289L;ENSP00000377331:P289L;ENSP00000389733:P289L;ENSP00000377330:P252L;ENSP00000377328:P289L;ENSP00000377324:P289L	ENSP00000304783:P289L	P	-	2	0	SLC26A5	102835556	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.022000	0.93678	2.673000	0.90976	0.650000	0.86243	CCT		PASS	0.458	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		4	126	4	126	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107743572	107743572	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:107743572G>C	ENST00000388781.3	-	10	1180	c.1097C>G	c.(1096-1098)aCt>aGt	p.T366S	LAMB4_ENST00000388780.3_Missense_Mutation_p.T366S|LAMB4_ENST00000418464.1_Missense_Mutation_p.T366S|LAMB4_ENST00000414450.2_Missense_Mutation_p.T366S|LAMB4_ENST00000205386.4_Missense_Mutation_p.T366S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	366	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.T366S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCCCCTCAGTGTTGTGCTG	0.607																																						uc010ljo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(1096-1098)ACT>AGT		laminin, beta 4 precursor							61.0	51.0	54.0					7																	107743572		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107743572G>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1097C>G	7.37:g.107743572G>C	ENSP00000373433:p.Thr366Ser					LAMB4_uc003vey.2_Missense_Mutation_p.T366S	p.T366S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			10	1181	-			366			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.1097C>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622573	0.66787	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	3.99	3.99	0.46301	EGF-like, laminin (4);	0.000000	0.53938	D	0.000050	T	0.81763	0.4891	M	0.89715	3.055	0.46241	D	0.998942	D	0.71674	0.998	D	0.67725	0.953	D	0.86736	0.1951	10	0.72032	D	0.01	.	16.6222	0.84933	0.0:0.0:1.0:0.0	.	366	A4D0S4	LAMB4_HUMAN	S	366	ENSP00000205386:T366S;ENSP00000373433:T366S;ENSP00000373432:T366S;ENSP00000402353:T366S;ENSP00000402265:T366S	ENSP00000205386:T366S	T	-	2	0	LAMB4	107530808	0.989000	0.36119	0.931000	0.37212	0.611000	0.37282	2.137000	0.42130	2.205000	0.71048	0.655000	0.94253	ACT		PASS	0.607	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		3	45	3	45	---	---	---	---
WDR91	29062	broad.mit.edu	37	7	134890753	134890753	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:134890753C>G	ENST00000354475.4	-	5	683	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	WDR91_ENST00000423565.1_Missense_Mutation_p.E183Q|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000344400.5_Missense_Mutation_p.E218Q	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	218								p.E218Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCCTCTTCCTCTTCTGGCTGT	0.512																																						uc003vsp.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(652-654)GAG>CAG		WD repeat domain 91							325.0	281.0	296.0					7																	134890753		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134890753C>G	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.652G>C	7.37:g.134890753C>G	ENSP00000346466:p.Glu218Gln					WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	p.E218Q	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			5	714	-			218					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.652G>C	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382839	0.82792	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91407	-2.84;-2.84;-2.84	5.48	4.6	0.57074	.	0.572385	0.20103	N	0.099192	T	0.82066	0.4956	N	0.24115	0.695	0.30373	N	0.782653	P	0.35077	0.483	B	0.21546	0.035	T	0.79035	-0.1968	10	0.37606	T	0.19	-7.6698	14.319	0.66473	0.0:0.9284:0.0:0.0716	.	218	A4D1P6	WDR91_HUMAN	Q	218;218;183	ENSP00000340877:E218Q;ENSP00000346466:E218Q;ENSP00000392555:E183Q	ENSP00000340877:E218Q	E	-	1	0	WDR91	134541293	1.000000	0.71417	0.896000	0.35187	0.988000	0.76386	3.594000	0.54008	1.432000	0.47375	0.655000	0.94253	GAG		PASS	0.512	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		18	238	18	238	---	---	---	---
STRA8	346673	broad.mit.edu	37	7	134925438	134925438	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:134925438G>A	ENST00000275764.3	+	2	228	c.228G>A	c.(226-228)gtG>gtA	p.V76V		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.V76V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						GGAAGACAGTGTACTCTCAGT	0.607																																						uc011kpx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)GTG>GTA		STRA8							59.0	59.0	59.0					7																	134925438		2203	4300	6503	SO:0001819	synonymous_variant	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134925438G>A	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.228G>A	7.37:g.134925438G>A							p.V76V	NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN			2	228	+			76						Silent	SNP	ENST00000275764.3	37	c.228G>A	CCDS5839.1																																																																																				PASS	0.607	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		9	143	9	143	---	---	---	---
ZNF282	8427	broad.mit.edu	37	7	148895705	148895705	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:148895705G>A	ENST00000262085.3	+	2	551	c.446G>A	c.(445-447)aGc>aAc	p.S149N	ZNF282_ENST00000479907.1_Missense_Mutation_p.S149N	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	149					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S149N(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACATGGAGAGCAAGTGGGCC	0.627																																						uc003wfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)AGC>AAC		zinc finger protein 282							56.0	62.0	60.0					7																	148895705		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148895705G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.446G>A	7.37:g.148895705G>A	ENSP00000262085:p.Ser149Asn					ZNF282_uc011kun.1_Missense_Mutation_p.S149N|ZNF282_uc003wfn.2_Missense_Mutation_p.S89N|ZNF282_uc003wfo.2_Missense_Mutation_p.S89N	p.S149N	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	2	551	+	Melanoma(164;0.15)		149					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.446G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550835	0.65311	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.23147	1.92;1.92	4.26	4.26	0.50523	.	0.266196	0.26761	N	0.022638	T	0.25975	0.0633	L	0.43152	1.355	0.34798	D	0.736473	P;P;P;P	0.42161	0.772;0.549;0.549;0.684	B;B;B;B	0.42882	0.401;0.174;0.258;0.322	T	0.41142	-0.9525	10	0.52906	T	0.07	-16.8326	12.5196	0.56052	0.0:0.0:1.0:0.0	.	149;100;121;149	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	N	64;149;149	ENSP00000262085:S149N;ENSP00000418840:S149N	ENSP00000262085:S149N	S	+	2	0	ZNF282	148526638	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.688000	0.68227	2.096000	0.63516	0.313000	0.20887	AGC		PASS	0.627	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		6	121	6	121	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150784082	150784082	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr7:150784082C>A	ENST00000397238.2	+	1	254	c.254C>A	c.(253-255)gCc>gAc	p.A85D	AGAP3_ENST00000473312.1_Missense_Mutation_p.A85D|AGAP3_ENST00000479901.1_Missense_Mutation_p.A85D|AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	49	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.A85D(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AATATCTACGCCATCTACGAC	0.667																																						uc003wjg.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(253-255)GCC>GAC		centaurin, gamma 3 isoform a							31.0	36.0	35.0					7																	150784082		2185	4299	6484	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150784082C>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.254C>A	7.37:g.150784082C>A	ENSP00000380413:p.Ala85Asp					AGAP3_uc003wje.1_Intron|AGAP3_uc003wjf.1_Missense_Mutation_p.A85D|AGAP3_uc010lpy.1_Missense_Mutation_p.A85D	p.A85D	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			1	257	+			49					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	c.254C>A	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104712	0.56291	.	.	ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355	D;D;T	0.87966	-2.12;-2.32;-0.52	2.42	2.42	0.29668	.	0.000000	0.48767	U	0.000175	D	0.88455	0.6441	M	0.75264	2.295	0.80722	D	1	D;D;D	0.63046	0.967;0.992;0.975	B;P;P	0.51193	0.391;0.662;0.629	D	0.88450	0.3048	10	0.56958	D	0.05	.	10.4985	0.44791	0.0:1.0:0.0:0.0	.	85;85;85	C9J975;Q96P47-4;E9PAL8	.;.;.	D	85;85;85;49	ENSP00000418921:A85D;ENSP00000418125:A85D;ENSP00000380413:A85D	ENSP00000334157:A49D	A	+	2	0	AGAP3	150415015	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.813000	0.75231	1.329000	0.45376	0.185000	0.17295	GCC		PASS	0.667	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		3	43	3	43	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1626520	1626520	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:1626520G>A	ENST00000421627.2	+	9	2323	c.2189G>A	c.(2188-2190)aGc>aAc	p.S730N	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	809					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.S738N(1)|p.S774N(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCCGAGCCCAGCACCCCCACC	0.622																																						uc003wpl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2188-2190)AGC>AAC		discs large-associated protein 2							49.0	58.0	55.0					8																	1626520		2079	4185	6264	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626520G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2189G>A	8.37:g.1626520G>A	ENSP00000400258:p.Ser730Asn					DLGAP2_uc003wpm.2_Missense_Mutation_p.S716N	p.S730N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2286	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	809					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2189G>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.692177|4.692177	0.88735|0.88735	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.19669	.|2.13	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46870|0.46870	0.1415|0.1415	M|M	0.71581|0.71581	2.175|2.175	0.47819|0.47819	D|D	0.999523|0.999523	.|D;D	.|0.63880	.|0.991;0.993	.|P;D	.|0.65573	.|0.894;0.936	T|T	0.42799|0.42799	-0.9430|-0.9430	5|10	.|0.56958	.|D	.|0.05	-9.1487|-9.1487	18.9967|18.9967	0.92817|0.92817	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|795;809	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	T|N	733|761;730	.|ENSP00000400258:S730N	.|ENSP00000348366:S761N	A|S	+|+	1|2	0|0	DLGAP2|DLGAP2	1613927|1613927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	5.291000|5.291000	0.65667|0.65667	2.475000|2.475000	0.83589|0.83589	0.650000|0.650000	0.86243|0.86243	GCA|AGC		PASS	0.622	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		16	72	16	72	---	---	---	---
PEBP4	157310	broad.mit.edu	37	8	22785204	22785204	+	Silent	SNP	G	G	T	rs11547477	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:22785204G>T	ENST00000256404.6	-	2	115	c.24C>A	c.(22-24)gtC>gtA	p.V8V	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	8						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)		p.V8V(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		GTGCTGCTGTGACCAGCCTCA	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		19359	0.003		0.0	False		,,,				2504	0.0					uc003xcn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(22-24)GTC>GTA		phosphatidylethanolamine-binding protein 4							91.0	95.0	93.0					8																	22785204		2050	4196	6246	SO:0001819	synonymous_variant	157310					lysosome		g.chr8:22785204G>T	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.24C>A	8.37:g.22785204G>T							p.V8V	NM_144962	NP_659399	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	2	116	-		Prostate(55;0.0453)|Breast(100;0.103)	8					Q5EVA1|Q8WW74	Silent	SNP	ENST00000256404.6	37	c.24C>A	CCDS43724.1																																																																																				PASS	0.597	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		14	97	14	97	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38187141	38187141	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:38187141C>G	ENST00000317025.8	-	6	1853	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.E446Q|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E446Q|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E446Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	446					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E446Q(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTCCGAATTTCAGTACTTGAG	0.507			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1336-1338)GAA>CAA		WHSC1L1 protein isoform long							98.0	93.0	95.0					8																	38187141		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187141C>G	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1336G>C	8.37:g.38187141C>G	ENSP00000313983:p.Glu446Gln					WHSC1L1_uc011lbm.1_Missense_Mutation_p.E446Q|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E446Q|WHSC1L1_uc003xlj.2_Missense_Mutation_p.E446Q	p.E446Q	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1854	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	446					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1336G>C	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817286	0.50633	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.95447	-3.7;-3.71;-3.7;-0.26	5.6	5.6	0.85130	.	0.127907	0.34156	U	0.004218	D	0.95306	0.8477	L	0.40543	1.245	0.39912	D	0.974047	P;P;P;P	0.42993	0.518;0.592;0.797;0.518	B;B;P;B	0.51170	0.25;0.355;0.661;0.25	D	0.94664	0.7851	10	0.35671	T	0.21	.	19.6104	0.95604	0.0:1.0:0.0:0.0	.	446;446;446;446	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	Q	446;446;383;446;446	ENSP00000393284:E446Q;ENSP00000313983:E446Q;ENSP00000434730:E446Q;ENSP00000313410:E446Q	ENSP00000313410:E446Q	E	-	1	0	WHSC1L1	38306298	1.000000	0.71417	0.979000	0.43373	0.461000	0.32589	5.060000	0.64312	2.634000	0.89283	0.650000	0.86243	GAA		PASS	0.507	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		17	138	17	138	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42611901	42611901	+	Silent	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:42611901G>T	ENST00000276410.2	-	5	796	c.441C>A	c.(439-441)acC>acA	p.T147T	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Silent_p.T132T	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	147					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.T147T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GTGGAGTCCAGGTTATCATGC	0.408																																						uc003xpj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(439-441)ACC>ACA		cholinergic receptor, nicotinic, alpha 6							156.0	157.0	157.0					8																	42611901		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611901G>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.441C>A	8.37:g.42611901G>T						CHRNA6_uc011lcw.1_Silent_p.T132T	p.T147T	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	487	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	147			Extracellular.		B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.441C>A	CCDS6135.1																																																																																				PASS	0.408	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			8	207	8	207	---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42927429	42927429	+	Missense_Mutation	SNP	G	G	T	rs374653329		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:42927429G>T	ENST00000302279.3	+	5	806	c.612G>T	c.(610-612)caG>caT	p.Q204H	RNU1-124P_ENST00000363861.1_RNA|FNTA_ENST00000529687.1_Missense_Mutation_p.Q53H|FNTA_ENST00000342116.4_Missense_Mutation_p.Q137H|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.Q161H	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	204					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.Q204H(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATGCCTGGCAGCATCGACAAT	0.343																																						uc003xps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)CAG>CAT		farnesyltransferase, CAAX box, alpha isoform a							122.0	114.0	117.0					8																	42927429		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42927429G>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.612G>T	8.37:g.42927429G>T	ENSP00000303423:p.Gln204His					FNTA_uc003xpt.2_Missense_Mutation_p.Q113H|FNTA_uc003xpu.2_Missense_Mutation_p.Q137H|FNTA_uc003xpv.2_RNA	p.Q204H	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		5	660	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	204			PFTA 3.		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.612G>T	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573388	0.65765	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000531266;ENST00000525699;ENST00000533336	T	0.43688	0.94	4.91	1.65	0.23941	Protein prenyltransferase (1);	0.173521	0.52532	D	0.000062	T	0.52517	0.1739	L	0.48642	1.525	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.957;0.979;0.983	T	0.50808	-0.8784	10	0.72032	D	0.01	-13.6642	10.34	0.43873	0.2113:0.0:0.7887:0.0	.	137;113;204	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	H	161;204;137;186;53;142	ENSP00000436998:Q53H	ENSP00000303423:Q204H	Q	+	3	2	FNTA;RP11-598P20.5	43046586	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.108000	0.31123	0.299000	0.22661	0.313000	0.20887	CAG		PASS	0.343	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		5	131	5	131	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48761740	48761740	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:48761740C>A	ENST00000314191.2	-	55	7308	c.7252G>T	c.(7252-7254)Gac>Tac	p.D2418Y	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D2418Y	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2419					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.D2419Y(1)|p.D2418Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGAACGAAGTCCTTGCTCTTT	0.458								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(7255-7257)GAC>TAC	NHEJ	protein kinase, DNA-activated, catalytic							146.0	135.0	138.0					8																	48761740		1941	4143	6084	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761740C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7252G>T	8.37:g.48761740C>A	ENSP00000313420:p.Asp2418Tyr					PRKDC_uc003xqj.2_Missense_Mutation_p.D2419Y|PRKDC_uc011ldh.1_Intron	p.D2419Y	NM_006904	NP_008835	P78527	PRKDC_HUMAN			55	7312	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2419					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7255G>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.348289	0.82132	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66638	-0.22;-0.22	5.12	5.12	0.69794	Armadillo-type fold (1);	0.135266	0.49305	D	0.000151	T	0.79040	0.4379	M	0.69823	2.125	0.48571	D	0.999678	D;D	0.64830	0.994;0.994	P;P	0.59825	0.864;0.825	T	0.81441	-0.0931	10	0.62326	D	0.03	.	17.5295	0.87810	0.0:1.0:0.0:0.0	.	2418;2419	E7EUY0;P78527	.;PRKDC_HUMAN	Y	2418	ENSP00000313420:D2418Y;ENSP00000345182:D2418Y	ENSP00000313420:D2418Y	D	-	1	0	PRKDC	48924293	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.674000	0.68117	2.363000	0.80096	0.563000	0.77884	GAC		PASS	0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	140	10	140	---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54142388	54142388	+	Splice_Site	SNP	G	G	A	rs200735223		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:54142388G>A	ENST00000265572.3	-	4	909	c.612C>T	c.(610-612)gaC>gaT	p.D204D	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Splice_Site_p.D204D|OPRK1_ENST00000524278.1_Splice_Site_p.D115D	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.D204D(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGACATCGACGTCTGGAGGAG	0.423																																						uc003xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(610-612)GAC>GAT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						36.0	41.0	39.0					8																	54142388		2203	4300	6503	SO:0001630	splice_region_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142388G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.611-1C>T	8.37:g.54142388G>A						OPRK1_uc003xri.1_Silent_p.D204D|OPRK1_uc010lyc.1_Silent_p.D115D	p.D204D	NM_000912	NP_000903	P41145	OPRK_HUMAN			3	987	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	204			Extracellular (Potential).		E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.612C>T	CCDS6152.1																																																																																				PASS	0.423	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		Silent	11	51	11	51	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71068967	71068967	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:71068967C>T	ENST00000452400.2	-	11	1814	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	545					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.G545R(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AATGAGACCCCGTGCCCCTCG	0.512			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1633-1635)GGG>AGG		nuclear receptor coactivator 2							89.0	87.0	88.0					8																	71068967		1889	4125	6014	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068967C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1633G>A	8.37:g.71068967C>T	ENSP00000399968:p.Gly545Arg						p.G545R	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1795	-	Breast(64;0.201)		545					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1633G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189224	0.78789	.	.	ENSG00000140396	ENST00000452400	T	0.02177	4.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00031	-1.2281	10	0.54805	T	0.06	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	545	Q15596	NCOA2_HUMAN	R	545	ENSP00000399968:G545R	ENSP00000399968:G545R	G	-	1	0	NCOA2	71231521	0.999000	0.42202	0.997000	0.53966	0.989000	0.77384	4.545000	0.60698	2.805000	0.96524	0.655000	0.94253	GGG		PASS	0.512	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			9	165	9	165	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618552	77618552	+	Silent	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:77618552C>A	ENST00000521891.2	+	2	2677	c.2229C>A	c.(2227-2229)gcC>gcA	p.A743A	ZFHX4_ENST00000050961.6_Silent_p.A743A|ZFHX4_ENST00000455469.2_Silent_p.A743A|ZFHX4_ENST00000518282.1_Silent_p.A743A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A743A(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCACTCTGCCCCAGCCCCCA	0.522										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2227-2229)GCC>GCA		zinc finger homeodomain 4							44.0	49.0	48.0					8																	77618552		2164	4287	6451	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618552C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2229C>A	8.37:g.77618552C>A		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.A743A|ZFHX4_uc003yau.1_Silent_p.A743A|ZFHX4_uc003yaw.1_Silent_p.A743A	p.A743A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2616	+			743					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2229C>A	CCDS47878.2																																																																																				PASS	0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	42	6	42	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103274250	103274250	+	Silent	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:103274250A>G	ENST00000520539.1	-	55	8341	c.7735T>C	c.(7735-7737)Ttg>Ctg	p.L2579L	UBR5_ENST00000220959.4_Silent_p.L2578L|UBR5_ENST00000518205.1_Silent_p.L307L|UBR5_ENST00000521922.1_Silent_p.L2572L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2579	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.L2579L(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTTGCCGCAAACTCTCATAC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - coding silent(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(7735-7737)TTG>CTG		ubiquitin protein ligase E3 component n-recognin							115.0	109.0	111.0					8																	103274250		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103274250A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7735T>C	8.37:g.103274250A>G						UBR5_uc003yks.1_Silent_p.L2578L|UBR5_uc003ykq.2_Silent_p.L90L	p.L2579L	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		55	7768	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2579			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.7735T>C	CCDS34933.1																																																																																				PASS	0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	124	10	124	---	---	---	---
AARD	441376	broad.mit.edu	37	8	117954881	117954881	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:117954881G>C	ENST00000378279.3	+	2	454	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	AARD_ENST00000523536.1_3'UTR	NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	137					lung development (GO:0030324)			p.E137Q(1)									AAAGGAGTATGAACTGGAAAT	0.448																																						uc003yof.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GAA>CAA		alanine and arginine-rich domain-containing							73.0	69.0	70.0					8																	117954881		2203	4300	6503	SO:0001583	missense	441376							g.chr8:117954881G>C	AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"""Alanine and arginine-rich domain-containing protein"""		"""chromosome 8 open reading frame 85"""	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.409G>C	8.37:g.117954881G>C	ENSP00000367528:p.Glu137Gln						p.E137Q	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN			2	428	+			137					A5PKU8	Missense_Mutation	SNP	ENST00000378279.3	37	c.409G>C	CCDS34935.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885788	0.33348	.	.	ENSG00000205002	ENST00000378279	T	0.51817	0.69	5.38	4.51	0.55191	.	0.793090	0.10777	N	0.635283	T	0.53916	0.1826	L	0.29908	0.895	0.09310	N	1	D	0.67145	0.996	P	0.62298	0.9	T	0.43909	-0.9362	10	0.59425	D	0.04	-2.0E-4	11.0037	0.47622	0.0853:0.0:0.9147:0.0	.	137	Q4LEZ3	AARD_HUMAN	Q	137	ENSP00000367528:E137Q	ENSP00000367528:E137Q	E	+	1	0	C8orf85	118024062	0.752000	0.28338	0.004000	0.12327	0.042000	0.13812	3.628000	0.54259	1.504000	0.48704	0.655000	0.94253	GAA		PASS	0.448	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357		13	80	13	80	---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125565386	125565386	+	Silent	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:125565386G>T	ENST00000518547.1	-	14	2588	c.2115C>A	c.(2113-2115)gcC>gcA	p.A705A	MTSS1_ENST00000524090.1_Silent_p.A595A|MTSS1_ENST00000395508.2_Silent_p.A479A|MTSS1_ENST00000325064.5_Silent_p.A709A|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Silent_p.A423A|MTSS1_ENST00000378017.3_Silent_p.A680A|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Silent_p.A423A	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	705	Pro-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.A705A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGAGACAGTGGCACTTGGGG	0.587																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2113-2115)GCC>GCA		metastasis suppressor 1							245.0	239.0	241.0					8																	125565386		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125565386G>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.2115C>A	8.37:g.125565386G>T						NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.A354A|MTSS1_uc011lin.1_Silent_p.A479A|MTSS1_uc011lio.1_Silent_p.A595A|MTSS1_uc003yri.2_Silent_p.A423A|MTSS1_uc003yrj.2_Silent_p.A680A|MTSS1_uc003yrl.2_Silent_p.A709A	p.A705A	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		14	2649	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		705			Pro-rich.		J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.2115C>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	3.268	-0.149627	0.06585	.	.	ENSG00000170873	ENST00000519168	.	.	.	6.17	4.4	0.53042	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.41158	D	0.986076	.	.	.	.	.	.	T	0.55159	-0.8184	4	.	.	.	-24.9358	7.8252	0.29311	0.1326:0.0:0.7357:0.1316	.	.	.	.	N	493	.	.	H	-	1	0	MTSS1	125634567	0.844000	0.29557	0.881000	0.34555	0.630000	0.37929	1.421000	0.34815	0.945000	0.37605	0.655000	0.94253	CAC		PASS	0.587	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		33	456	33	456	---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144898903	144898903	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:144898903C>G	ENST00000526683.1	-	12	2022	c.1467G>C	c.(1465-1467)aaG>aaC	p.K489N	SCRIB_ENST00000320476.3_5'Flank|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000313352.7_Missense_Mutation_p.K429N|PUF60_ENST00000453551.2_Missense_Mutation_p.K446N|PUF60_ENST00000349157.6_Missense_Mutation_p.K472N|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000527197.1_Missense_Mutation_p.K443N|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000456095.2_Missense_Mutation_p.K460N	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	489	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K489N(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	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;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGCCCCGAACTTGCCACACT	0.537																																						uc003yzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1465-1467)AAG>AAC		poly-U binding splicing factor 60KDa isoform a							229.0	246.0	240.0					8																	144898903		2138	4212	6350	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144898903C>G	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1467G>C	8.37:g.144898903C>G	ENSP00000434359:p.Lys489Asn					SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.K429N|PUF60_uc003yzt.2_Missense_Mutation_p.K472N|PUF60_uc003yzq.2_Missense_Mutation_p.K446N	p.K489N	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	1531	-	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)		489			RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.1467G>C	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874315	0.33069	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3;3.3	5.27	3.4	0.38934	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	M	0.87180	2.865	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.73708	0.981;0.957	T	0.00956	-1.1501	10	0.38643	T	0.18	.	4.7728	0.13164	0.1536:0.6001:0.0:0.2463	.	472;489	Q9UHX1-2;Q9UHX1	.;PUF60_HUMAN	N	489;446;429;460;472;443	ENSP00000434359:K489N;ENSP00000402953:K446N;ENSP00000322016:K429N;ENSP00000395417:K460N;ENSP00000322036:K472N;ENSP00000431960:K443N	ENSP00000322016:K429N	K	-	3	2	PUF60	144970891	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.538000	0.36094	0.549000	0.28973	0.448000	0.29417	AAG		PASS	0.537	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		19	184	19	184	---	---	---	---
ZNF16	7564	broad.mit.edu	37	8	146156294	146156294	+	Missense_Mutation	SNP	G	G	A	rs145120548		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr8:146156294G>A	ENST00000276816.4	-	4	2065	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	ZNF16_ENST00000394909.2_Missense_Mutation_p.R627C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	627					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R627C(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGTAGGGGCGCTCGCCCGTG	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.0					uc003zet.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1879-1881)CGC>TGC		zinc finger protein 16		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	108.0	104.0	105.0		1879,1879	2.8	1.0	8	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF16	NM_001029976.2,NM_006958.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	627/683,627/683	146156294	1,13005	2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156294G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1879C>T	8.37:g.146156294G>A	ENSP00000276816:p.Arg627Cys					ZNF16_uc003zeu.2_Missense_Mutation_p.R627C	p.R627C	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	2066	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	627					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1879C>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340654	0.60963	0.0	1.16E-4	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.20463	2.07;2.07	4.0	2.85	0.33270	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49406	0.1555	M	0.89534	3.04	0.39001	D	0.959345	D	0.89917	1.0	D	0.78314	0.991	T	0.56547	-0.7961	9	0.87932	D	0	.	9.4382	0.38653	0.0:0.0:0.211:0.789	.	627	P17020	ZNF16_HUMAN	C	627	ENSP00000276816:R627C;ENSP00000378369:R627C	ENSP00000276816:R627C	R	-	1	0	ZNF16	146127098	0.039000	0.19947	0.991000	0.47740	0.863000	0.49368	2.097000	0.41748	0.596000	0.29794	0.462000	0.41574	CGC		PASS	0.532	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		13	115	13	115	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32542684	32542684	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:32542684C>A	ENST00000360538.2	-	3	1955	c.1839G>T	c.(1837-1839)aaG>aaT	p.K613N	TOPORS_ENST00000379858.1_Missense_Mutation_p.K548N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	613	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K613N(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTCTATGATTCTTCTGATCAT	0.403																																						uc003zrb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1837-1839)AAG>AAT		topoisomerase I binding, arginine/serine-rich							266.0	264.0	264.0					9																	32542684		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542684C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1839G>T	9.37:g.32542684C>A	ENSP00000353735:p.Lys613Asn					TOPORS_uc003zrc.2_Missense_Mutation_p.K546N	p.K613N	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2006	-			613			Arg-rich.|Interaction with TOP1.|Interaction with SUMO1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1839G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	8.306	0.820944	0.16678	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15952	2.38;2.43	5.9	3.01	0.34805	.	0.287645	0.25063	N	0.033422	T	0.07728	0.0194	N	0.08118	0	0.29021	N	0.886273	B	0.19445	0.036	B	0.12837	0.008	T	0.16600	-1.0397	10	0.62326	D	0.03	-6.8881	4.7981	0.13282	0.0:0.5198:0.1472:0.3331	.	613	Q9NS56	TOPRS_HUMAN	N	613;548	ENSP00000353735:K613N;ENSP00000369187:K548N	ENSP00000353735:K613N	K	-	3	2	TOPORS	32532684	0.060000	0.20803	0.990000	0.47175	0.882000	0.50991	0.272000	0.18644	0.365000	0.24400	-0.133000	0.14855	AAG		PASS	0.403	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	367	8	367	---	---	---	---
PIP5K1B	8395	broad.mit.edu	37	9	71538235	71538235	+	Silent	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:71538235T>C	ENST00000265382.3	+	12	1439	c.1134T>C	c.(1132-1134)caT>caC	p.H378H	PIP5K1B_ENST00000541509.1_Silent_p.H378H	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	378	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.H378H(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTTCTGTTCATAGACCAAGCT	0.338																																						uc004agu.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)	1						c.(1132-1134)CAT>CAC		phosphatidylinositol-4-phosphate 5-kinase, type							143.0	131.0	135.0					9																	71538235		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71538235T>C	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1134T>C	9.37:g.71538235T>C						PIP5K1B_uc011lrq.1_Silent_p.H378H|PIP5K1B_uc004agv.2_RNA	p.H378H	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	12	1439	+			378			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.1134T>C	CCDS6624.1																																																																																				PASS	0.338	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		13	171	13	171	---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71849460	71849460	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:71849460G>A	ENST00000377245.4	+	12	1985	c.1777G>A	c.(1777-1779)Gat>Aat	p.D593N	TJP2_ENST00000535702.1_Missense_Mutation_p.D597N|TJP2_ENST00000453658.2_Missense_Mutation_p.D570N|TJP2_ENST00000348208.4_Missense_Mutation_p.D593N|TJP2_ENST00000539225.1_Missense_Mutation_p.D624N|TJP2_ENST00000265384.7_Missense_Mutation_p.D593N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	593					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.D593N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GAGCCGAGCCGATGGTGAGCA	0.488																																						uc004ahe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1777-1779)GAT>AAT		tight junction protein 2 (zona occludens 2)							61.0	56.0	58.0					9																	71849460		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71849460G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1777G>A	9.37:g.71849460G>A	ENSP00000366453:p.Asp593Asn					TJP2_uc011lrs.1_Missense_Mutation_p.D570N|TJP2_uc011lrt.1_Missense_Mutation_p.D570N|TJP2_uc004ahd.2_Missense_Mutation_p.D593N|TJP2_uc004ahf.2_Missense_Mutation_p.D593N|TJP2_uc011lru.1_Missense_Mutation_p.D597N|TJP2_uc011lrv.1_Missense_Mutation_p.D615N	p.D593N	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			12	1977	+			593					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1777G>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802530	0.96960	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.45	5.45	0.79879	Src homology-3 domain (1);PDZ/DHR/GLGF (1);	0.107902	0.64402	D	0.000008	T	0.70815	0.3267	M	0.81497	2.545	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.916;0.999;0.998;0.999	P;P;P;P;D	0.65140	0.864;0.622;0.897;0.887;0.932	T	0.74432	-0.3667	10	0.87932	D	0	.	19.6555	0.95837	0.0:0.0:1.0:0.0	.	624;597;593;593;593	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	N	570;593;593;593;597;624	ENSP00000392178:D570N;ENSP00000366453:D593N;ENSP00000345893:D593N;ENSP00000265384:D593N;ENSP00000442090:D597N;ENSP00000438262:D624N	ENSP00000265384:D593N	D	+	1	0	TJP2	71039280	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.700000	0.98707	2.725000	0.93324	0.655000	0.94253	GAT		PASS	0.488	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		5	56	5	56	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73206004	73206004	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:73206004T>C	ENST00000377111.2	-	21	3373	c.3130A>G	c.(3130-3132)Atc>Gtc	p.I1044V	TRPM3_ENST00000357533.2_Missense_Mutation_p.I1048V|TRPM3_ENST00000423814.3_Missense_Mutation_p.I1071V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I916V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I891V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I906V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I903V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I916V|TRPM3_ENST00000377110.3_Missense_Mutation_p.I1044V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I893V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I903V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I906V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1069					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.I1048V(1)|p.I1044V(1)|p.I916V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGTAGAAGATGTTCTTGGCC	0.448																																						uc004aid.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3130-3132)ATC>GTC		transient receptor potential cation channel,							165.0	147.0	153.0					9																	73206004		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73206004T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3130A>G	9.37:g.73206004T>C	ENSP00000366315:p.Ile1044Val					TRPM3_uc004ahu.2_Missense_Mutation_p.I874V|TRPM3_uc004ahv.2_Missense_Mutation_p.I846V|TRPM3_uc004ahw.2_Missense_Mutation_p.I916V|TRPM3_uc004ahx.2_Missense_Mutation_p.I903V|TRPM3_uc004ahy.2_Missense_Mutation_p.I906V|TRPM3_uc004ahz.2_Missense_Mutation_p.I893V|TRPM3_uc004aia.2_Missense_Mutation_p.I891V|TRPM3_uc004aib.2_Missense_Mutation_p.I881V|TRPM3_uc004aic.2_Missense_Mutation_p.I1044V	p.I1044V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			21	3374	-			1069			Extracellular (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3130A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.97|15.97	2.989167|2.989167	0.53934|0.53934	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|D;D;D;D;D;D;D;D;D;D;D	.|0.98455	.|-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.92;-4.94;-4.94;-4.94	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96833|0.96833	0.8966|0.8966	N|N	0.11756|0.11756	0.17|0.17	0.48236|0.48236	D|D	0.999612|0.999612	.|P;B;D;P;P;P;P;B	.|0.59357	.|0.711;0.385;0.985;0.754;0.754;0.645;0.834;0.169	.|P;B;D;P;B;B;B;B	.|0.68765	.|0.54;0.421;0.96;0.669;0.359;0.355;0.343;0.124	D|D	0.94930|0.94930	0.8081|0.8081	5|10	.|0.07990	.|T	.|0.79	-21.9923|-21.9923	16.0962|16.0962	0.81127|0.81127	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1044;1044;1034;1048;906;903;1016;891	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	R|V	892|1044;1044;916;906;903;1048;903;891;916;906;1071	.|ENSP00000366315:I1044V;ENSP00000366314:I1044V;ENSP00000366310:I916V;ENSP00000354066:I906V;ENSP00000366309:I903V;ENSP00000350140:I1048V;ENSP00000386127:I903V;ENSP00000379581:I891V;ENSP00000379587:I916V;ENSP00000350791:I906V;ENSP00000389542:I1071V	.|ENSP00000350140:I1048V	H|I	-|-	2|1	0|0	TRPM3|TRPM3	72395824|72395824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.208000|2.208000	0.71279|0.71279	0.519000|0.519000	0.50382|0.50382	CAT|ATC		PASS	0.448	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		7	201	7	201	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78953262	78953262	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:78953262G>A	ENST00000545128.1	+	34	5322	c.4784G>A	c.(4783-4785)cGc>cAc	p.R1595H		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1595	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.R1595H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTCTGCTCCGCTCCAAAGGA	0.547																																						uc004akc.1																			1	Substitution - Missense(1)		lung(1)								c.(1039-1041)CGC>CAC		Homo sapiens cDNA FLJ16215 fis, clone CTONG2025610, moderately similar to PC6B.							46.0	41.0	43.0					9																	78953262		876	1991	2867	SO:0001583	missense	0							g.chr9:78953262G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4784G>A	9.37:g.78953262G>A	ENSP00000446280:p.Arg1595His						p.R347H							7	1260	+								F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1040G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	8.419	0.845990	0.16963	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.49432	0.78;1.63	5.83	-4.75	0.03239	.	0.760340	0.13101	N	0.413765	T	0.41003	0.1140	L	0.45285	1.41	0.26450	N	0.975622	.	.	.	.	.	.	T	0.46456	-0.9190	8	0.44086	T	0.13	-7.4286	10.1709	0.42908	0.5678:0.0937:0.3385:0.0	.	.	.	.	H	1595;1325;1295	ENSP00000446280:R1595H;ENSP00000411654:R1295H	ENSP00000365945:R1325H	R	+	2	0	PCSK5	78143082	0.000000	0.05858	0.245000	0.24217	0.106000	0.19336	-0.333000	0.07894	-0.826000	0.04284	0.563000	0.77884	CGC		PASS	0.547	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	32	5	32	---	---	---	---
MURC	347273	broad.mit.edu	37	9	103348485	103348485	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:103348485G>A	ENST00000307584.5	+	2	912	c.847G>A	c.(847-849)Gct>Act	p.A283T		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	283					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.A283T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CCGAACAGTGGCTGAAGGTGA	0.512																																						uc004bba.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)GCT>ACT		muscle-related coiled-coil protein							112.0	116.0	115.0					9																	103348485		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348485G>A	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.847G>A	9.37:g.103348485G>A	ENSP00000418668:p.Ala283Thr						p.A283T	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			2	937	+		Acute lymphoblastic leukemia(62;0.0461)	283					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.847G>A	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208177	0.58343	.	.	ENSG00000170681	ENST00000307584	T	0.69306	-0.39	5.44	4.55	0.56014	.	0.272984	0.34986	N	0.003539	T	0.61274	0.2334	L	0.59436	1.845	0.58432	D	0.999995	P	0.35628	0.513	B	0.34873	0.191	T	0.60697	-0.7212	10	0.34782	T	0.22	-12.4844	12.2712	0.54708	0.0833:0.0:0.9167:0.0	.	283	Q5BKX8	MURC_HUMAN	T	283	ENSP00000418668:A283T	ENSP00000418668:A283T	A	+	1	0	MURC	102388306	1.000000	0.71417	0.328000	0.25416	0.028000	0.11728	7.285000	0.78660	1.440000	0.47531	0.561000	0.74099	GCT		PASS	0.512	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		5	172	5	172	---	---	---	---
ZNF189	7743	broad.mit.edu	37	9	104170627	104170627	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:104170627G>C	ENST00000339664.2	+	3	706	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	ZNF189_ENST00000374861.3_Missense_Mutation_p.E179Q|ZNF189_ENST00000259395.4_Missense_Mutation_p.E151Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	193					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E193Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ATTTGTTATTGAACATCAGAG	0.403																																						uc004bbh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(577-579)GAA>CAA		zinc finger protein 189 isoform 1							80.0	83.0	82.0					9																	104170627		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170627G>C	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.577G>C	9.37:g.104170627G>C	ENSP00000342019:p.Glu193Gln					ZNF189_uc004bbg.1_Missense_Mutation_p.E151Q|ZNF189_uc004bbi.1_Missense_Mutation_p.E179Q|ZNF189_uc011lvk.1_Missense_Mutation_p.E178Q	p.E193Q	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	853	+		Acute lymphoblastic leukemia(62;0.0559)	193			C2H2-type 2.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.577G>C	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	0.337	-0.952811	0.02285	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19105	2.17;2.17;2.17	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000116	T	0.09113	0.0225	N	0.03608	-0.345	0.28309	N	0.922786	B;B;B	0.23490	0.033;0.042;0.086	B;B;B	0.28305	0.018;0.035;0.088	T	0.25257	-1.0137	10	0.11182	T	0.66	.	11.234	0.48929	0.0:0.1845:0.8155:0.0	.	178;179;193	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	Q	179;193;151	ENSP00000363995:E179Q;ENSP00000342019:E193Q;ENSP00000259395:E151Q	ENSP00000259395:E151Q	E	+	1	0	ZNF189	103210448	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.467000	0.06664	2.873000	0.98535	0.563000	0.77884	GAA		PASS	0.403	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		6	114	6	114	---	---	---	---
ZNF189	7743	broad.mit.edu	37	9	104171282	104171282	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:104171282G>C	ENST00000339664.2	+	3	1361	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T	ZNF189_ENST00000374861.3_Missense_Mutation_p.R397T|ZNF189_ENST00000259395.4_Missense_Mutation_p.R369T	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	411					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R411T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GCCTTTAGTAGAAGCTCAGGT	0.408																																						uc004bbh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(1231-1233)AGA>ACA		zinc finger protein 189 isoform 1							57.0	59.0	58.0					9																	104171282		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171282G>C	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1232G>C	9.37:g.104171282G>C	ENSP00000342019:p.Arg411Thr					ZNF189_uc004bbg.1_Missense_Mutation_p.R369T|ZNF189_uc004bbi.1_Missense_Mutation_p.R397T|ZNF189_uc011lvk.1_Missense_Mutation_p.R396T	p.R411T	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	1508	+		Acute lymphoblastic leukemia(62;0.0559)	411			C2H2-type 10.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.1232G>C	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334495	0.24253	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.15017	2.46;2.46;2.46	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000084	T	0.22437	0.0541	L	0.31926	0.97	0.35997	D	0.837081	P;P;P	0.48589	0.912;0.912;0.912	P;P;B	0.51453	0.67;0.576;0.338	T	0.04840	-1.0923	10	0.45353	T	0.12	.	15.4921	0.75615	0.0:0.0:1.0:0.0	.	396;397;411	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	T	397;411;369	ENSP00000363995:R397T;ENSP00000342019:R411T;ENSP00000259395:R369T	ENSP00000259395:R369T	R	+	2	0	ZNF189	103211103	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.535000	0.06142	2.785000	0.95823	0.655000	0.94253	AGA		PASS	0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		8	94	8	94	---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107288712	107288712	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:107288712G>T	ENST00000277216.3	-	1	778	c.779C>A	c.(778-780)gCa>gAa	p.A260E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A260E(3)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTAGGTTTTGCATACATAAA	0.468																																						uc011lvn.1																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(778-780)GCA>GAA		olfactory receptor, family 13, subfamily C,							101.0	93.0	96.0					9																	107288712		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288712G>T		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.779C>A	9.37:g.107288712G>T	ENSP00000277216:p.Ala260Glu						p.A260E	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	779	-			260			Extracellular (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.779C>A	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723309	0.30503	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.37915	1.17	3.89	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.339072	0.21330	U	0.076308	T	0.36248	0.0960	M	0.71206	2.165	0.09310	N	0.999999	P	0.46952	0.887	B	0.44133	0.442	T	0.37079	-0.9721	10	0.66056	D	0.02	.	5.3219	0.15885	0.232:0.0:0.768:0.0	.	260	Q8NGS5	O13C4_HUMAN	E	260;289	ENSP00000277216:A260E	ENSP00000277216:A260E	A	-	2	0	OR13C4	106328533	0.000000	0.05858	0.976000	0.42696	0.600000	0.36913	0.067000	0.14510	2.136000	0.66102	0.460000	0.39030	GCA		PASS	0.468	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			15	147	15	147	---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617236	111617236	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:111617236G>A	ENST00000374667.3	-	1	2003	c.975C>T	c.(973-975)cgC>cgT	p.R325R		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	325						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.R325R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGTCCTGGCAGCGGCCCAGGC	0.677																																						uc004bdi.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(973-975)CGC>CGT		actin-like 7B							34.0	41.0	39.0					9																	111617236		2196	4288	6484	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617236G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.975C>T	9.37:g.111617236G>A							p.R325R	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	1040	-			325					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.975C>T	CCDS6771.1																																																																																				PASS	0.677	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		6	132	6	132	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123169494	123169494	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:123169494G>C	ENST00000349780.4	-	32	4938	c.4759C>G	c.(4759-4761)Cct>Gct	p.P1587A	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P1555A|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P1546A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1587					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.P1587A(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCCCTGAAAGGATCCTGCCCC	0.562																																						uc004bkf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(4759-4761)CCT>GCT		CDK5 regulatory subunit associated protein 2							73.0	69.0	71.0					9																	123169494		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123169494G>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4759C>G	9.37:g.123169494G>C	ENSP00000343818:p.Pro1587Ala					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.P596A|CDK5RAP2_uc004bke.2_Missense_Mutation_p.P872A|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.P852A|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.P852A|CDK5RAP2_uc011lya.1_Missense_Mutation_p.P852A|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P1357A|CDK5RAP2_uc004bki.2_3'UTR	p.P1587A	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			32	4940	-			1587					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4759C>G	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	7.505	0.653565	0.14580	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.23754	3.87;3.79;3.87;2.21;1.89	5.44	1.04	0.20106	.	0.730502	0.12330	N	0.478461	T	0.22166	0.0534	M	0.68593	2.085	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.09377	0.003;0.004;0.001;0.003	T	0.42258	-0.9462	10	0.07175	T	0.84	.	8.7373	0.34537	0.0:0.2447:0.3933:0.362	.	597;1555;1587;981	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	A	1555;1546;1587;981;597;1359	ENSP00000354065:P1555A;ENSP00000352258:P1546A;ENSP00000343818:P1587A;ENSP00000400395:P981A;ENSP00000409941:P597A	ENSP00000341695:P1359A	P	-	1	0	CDK5RAP2	122209315	0.004000	0.15560	0.012000	0.15200	0.871000	0.50021	0.270000	0.18607	0.205000	0.20568	0.655000	0.94253	CCT		PASS	0.562	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		11	113	11	113	---	---	---	---
DDX31	64794	broad.mit.edu	37	9	135538025	135538025	+	Silent	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:135538025G>T	ENST00000372159.3	-	2	599	c.448C>A	c.(448-450)Cgg>Agg	p.R150R	DDX31_ENST00000372153.1_Silent_p.R150R|DDX31_ENST00000438527.3_Silent_p.R21R|DDX31_ENST00000310532.2_Silent_p.R150R|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000544003.1_Silent_p.R54R	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	150						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R150R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCGTTCCTCCGTTTCGCTGGG	0.438																																						uc004cbq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(448-450)CGG>AGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							104.0	99.0	101.0					9																	135538025		2203	4300	6503	SO:0001819	synonymous_variant	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135538025G>T	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.448C>A	9.37:g.135538025G>T						DDX31_uc010mzu.1_Silent_p.R150R|DDX31_uc004cbr.1_Silent_p.R150R|DDX31_uc004cbs.1_Silent_p.R150R	p.R150R	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	2	600	-			150					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Silent	SNP	ENST00000372159.3	37	c.448C>A	CCDS6951.1																																																																																				PASS	0.438	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		4	158	4	158	---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136198994	136198994	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:136198994G>A	ENST00000372022.4	-	5	1062	c.797C>T	c.(796-798)gCg>gTg	p.A266V	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	266					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A266V(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTTCATCTTCGCCTCCAGCTC	0.667																																						uc004cdb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)GCG>GTG		surfeit 6							82.0	79.0	80.0					9																	136198994		2203	4300	6503	SO:0001583	missense	6838					granular component	DNA binding|RNA binding	g.chr9:136198994G>A	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.797C>T	9.37:g.136198994G>A	ENSP00000361092:p.Ala266Val						p.A266V	NM_006753	NP_006744	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	875	-			266					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	c.797C>T	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055710	0.36277	.	.	ENSG00000148296	ENST00000372022	T	0.14391	2.51	5.08	0.979	0.19745	.	1.097770	0.06807	N	0.789756	T	0.07503	0.0189	N	0.13043	0.29	0.21105	N	0.999787	P	0.37276	0.589	B	0.28465	0.09	T	0.35375	-0.9791	10	0.46703	T	0.11	0.0037	8.3762	0.32445	0.1295:0.3711:0.4994:0.0	.	266	O75683	SURF6_HUMAN	V	266	ENSP00000361092:A266V	ENSP00000361092:A266V	A	-	2	0	SURF6	135188815	0.802000	0.28943	0.984000	0.44739	0.951000	0.60555	1.062000	0.30555	0.133000	0.18654	0.467000	0.42956	GCG		PASS	0.667	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		6	187	6	187	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136635533	136635533	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:136635533G>A	ENST00000371850.3	-	27	2345	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C	VAV2_ENST00000371851.1_Missense_Mutation_p.R762C|VAV2_ENST00000406606.3_Missense_Mutation_p.R762C	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	772					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R772C(1)|p.R762C(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GAGGCCGAACGTTCCCGGGAC	0.657																																						uc004ces.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(2314-2316)CGT>TGT		vav 2 guanine nucleotide exchange factor isoform							119.0	96.0	104.0					9																	136635533		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136635533G>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2314C>T	9.37:g.136635533G>A	ENSP00000360916:p.Arg772Cys					VAV2_uc004cer.2_Missense_Mutation_p.R762C|VAV2_uc004cet.1_Missense_Mutation_p.R311C	p.R772C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	27	2360	-			772					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.2314C>T	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586444	0.86851	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;D	0.83075	-0.11;0.06;-1.68	4.47	4.47	0.54385	SH2 motif (1);	0.052593	0.85682	D	0.000000	D	0.84334	0.5449	L	0.38175	1.15	0.80722	D	1	P;D;D	0.89917	0.578;1.0;0.996	B;P;P	0.56514	0.183;0.8;0.764	D	0.86572	0.1848	10	0.66056	D	0.02	.	16.1158	0.81304	0.0:0.0:1.0:0.0	.	762;772;762	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	C	772;762;762;762	ENSP00000360916:R772C;ENSP00000360917:R762C;ENSP00000385362:R762C	ENSP00000317258:R762C	R	-	1	0	VAV2	135625354	1.000000	0.71417	0.965000	0.40720	0.604000	0.37047	9.469000	0.97679	2.026000	0.59711	0.462000	0.41574	CGT		PASS	0.657	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			7	97	7	97	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139329253	139329253	+	Missense_Mutation	SNP	C	C	T	rs199873582		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr9:139329253C>T	ENST00000371712.3	-	2	1277	c.875G>A	c.(874-876)cGc>cAc	p.R292H		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R292H(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGGGAAGTAGCGGGCCAGCTC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14255	0.001		0.0	False		,,,				2504	0.0					uc004cho.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(874-876)CGC>CAC		inositol polyphosphate-5-phosphatase E							28.0	26.0	26.0					9																	139329253		2195	4295	6490	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139329253C>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.875G>A	9.37:g.139329253C>T	ENSP00000360777:p.Arg292His					INPP5E_uc010nbm.2_Missense_Mutation_p.R292H	p.R292H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	2	1260	-		Myeloproliferative disorder(178;0.0511)	292					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.875G>A	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974064	0.74246	.	.	ENSG00000148384	ENST00000371712	D	0.97941	-4.62	4.53	1.4	0.22301	.	0.129405	0.51477	D	0.000094	D	0.97309	0.9120	M	0.70275	2.135	0.80722	D	1	D;D	0.65815	0.992;0.995	P;B	0.56916	0.809;0.441	D	0.95758	0.8798	10	0.87932	D	0	-19.2862	7.0092	0.24853	0.0:0.708:0.1434:0.1487	.	292;292	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	H	292	ENSP00000360777:R292H	ENSP00000360777:R292H	R	-	2	0	INPP5E	138449074	0.997000	0.39634	0.977000	0.42913	0.798000	0.45092	3.469000	0.53093	0.471000	0.27319	0.561000	0.74099	CGC		PASS	0.682	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		3	32	3	32	---	---	---	---
PRKCQ	5588	broad.mit.edu	37	10	6504316	6504316	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr10:6504316G>A	ENST00000263125.5	-	14	1556	c.1457C>T	c.(1456-1458)gCt>gTt	p.A486V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A486V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A361V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	486	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.A486V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AATGATTTCAGCAGCATAAAA	0.413																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(1456-1458)GCT>GTT		protein kinase C, theta							110.0	106.0	108.0					10																	6504316		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6504316G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1457C>T	10.37:g.6504316G>A	ENSP00000263125:p.Ala486Val					PRKCQ_uc009xim.1_Missense_Mutation_p.A486V|PRKCQ_uc001iji.1_Missense_Mutation_p.A519V|PRKCQ_uc009xin.1_Missense_Mutation_p.A450V|PRKCQ_uc010qax.1_Missense_Mutation_p.A361V	p.A486V	NM_006257	NP_006248	Q04759	KPCT_HUMAN			14	1532	-			486			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1457C>T	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243663	0.95272	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.65916	-0.18;-0.18;-0.18	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.87578	0.808;0.987;0.978;0.998	T	0.79274	-0.1871	10	0.87932	D	0	.	19.4241	0.94734	0.0:0.0:1.0:0.0	.	361;258;486;486	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	V	486;486;361	ENSP00000263125:A486V;ENSP00000380361:A486V;ENSP00000441752:A361V	ENSP00000263125:A486V	A	-	2	0	PRKCQ	6544322	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.473000	0.97714	2.577000	0.86979	0.563000	0.77884	GCT		PASS	0.413	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		9	87	9	87	---	---	---	---
SUV39H2	79723	broad.mit.edu	37	10	14939354	14939354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr10:14939354C>A	ENST00000354919.6	+	3	687	c.687C>A	c.(685-687)tgC>tgA	p.C229*	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Nonsense_Mutation_p.C169*	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	229	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.C229*(1)|p.C169*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TCTATGAATGCAACTCAAGGT	0.413																																						uc001inh.2																			2	Substitution - Nonsense(2)		lung(2)	breast(2)|ovary(1)	3						c.(505-507)TGC>TGA		suppressor of variegation 3-9 homolog 2							124.0	114.0	117.0					10																	14939354		2203	4300	6503	SO:0001587	stop_gained	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939354C>A	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.687C>A	10.37:g.14939354C>A	ENSP00000346997:p.Cys229*					SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Nonsense_Mutation_p.C169*|SUV39H2_uc001inj.2_Nonsense_Mutation_p.C169*	p.C169*	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN			2	563	+			229			Pre-SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Nonsense_Mutation	SNP	ENST00000354919.6	37	c.507C>A	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866528	0.51588	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	.	.	.	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2674	0.66129	0.0:0.929:0.0:0.071	.	.	.	.	X	229;169;169	.	ENSP00000319208:C169X	C	+	3	2	SUV39H2	14979360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.199000	0.51043	1.629000	0.50426	0.650000	0.86243	TGC		PASS	0.413	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		13	125	13	125	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129910038	129910038	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr10:129910038C>T	ENST00000368654.3	-	11	2506	c.2131G>A	c.(2131-2133)Gca>Aca	p.A711T	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.A351T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	711					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.A711T(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGAGAGTTTGCGTGGCCTGTA	0.433																																						uc001lke.2																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2131-2133)GCA>ACA		antigen identified by monoclonal antibody Ki-67							142.0	139.0	140.0					10																	129910038		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129910038C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2131G>A	10.37:g.129910038C>T	ENSP00000357643:p.Ala711Thr					MKI67_uc001lkf.2_Missense_Mutation_p.A351T|MKI67_uc009yav.1_Missense_Mutation_p.A286T|MKI67_uc009yaw.1_Intron	p.A711T	NM_002417	NP_002408	P46013	KI67_HUMAN			11	2326	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	711					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2131G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579628	0.86645	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.09350	2.99;3.02	5.13	5.13	0.70059	.	0.281585	0.30142	N	0.010316	T	0.32852	0.0843	M	0.67397	2.05	0.47009	D	0.999289	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.01753	-1.1281	10	0.87932	D	0	.	16.9443	0.86226	0.0:1.0:0.0:0.0	.	710;351;711	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	711;351;710;286	ENSP00000357643:A711T;ENSP00000357642:A351T	ENSP00000357641:A286T	A	-	1	0	MKI67	129800028	1.000000	0.71417	0.754000	0.31244	0.497000	0.33675	4.813000	0.62620	2.655000	0.90218	0.655000	0.94253	GCA		PASS	0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		10	121	10	121	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135106715	135106715	+	Silent	SNP	C	C	T	rs367667431		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr10:135106715C>T	ENST00000252936.3	-	6	891	c.852G>A	c.(850-852)gaG>gaA	p.E284E	RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000543663.1_Silent_p.E312E|TUBGCP2_ENST00000368563.2_Silent_p.E284E|TUBGCP2_ENST00000417178.2_Silent_p.E154E|TUBGCP2_ENST00000368562.1_5'Flank			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	284					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.E284E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCTGCCCGTACTCGAAGGAAG	0.557																																						uc001lmg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(850-852)GAG>GAA		tubulin, gamma complex associated protein 2		C		0,4406		0,0,2203	63.0	60.0	61.0		852	-1.9	0.9	10		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBGCP2	NM_006659.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		284/903	135106715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106715C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.852G>A	10.37:g.135106715C>T						TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.E312E|TUBGCP2_uc009ybk.1_Silent_p.E284E|TUBGCP2_uc010qvd.1_Silent_p.E154E|TUBGCP2_uc001lmh.1_RNA	p.E284E	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	7	1209	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	284					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.852G>A	CCDS7676.1																																																																																				PASS	0.557	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			8	96	8	96	---	---	---	---
OR52I2	143502	broad.mit.edu	37	11	4608686	4608686	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:4608686C>T	ENST00000312614.4	+	1	666	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A215V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTTTGGCCAGGTTAGCA	0.512																																						uc010qyh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(643-645)GCC>GTC		olfactory receptor, family 52, subfamily I,							188.0	180.0	183.0					11																	4608686		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608686C>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.644C>T	11.37:g.4608686C>T	ENSP00000308764:p.Ala215Val						p.A215V	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	644	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	215			Extracellular (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.644C>T	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531753	0.27387	.	.	ENSG00000226288	ENST00000312614	T	0.73047	-0.71	4.18	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.156467	0.29830	N	0.011084	T	0.55816	0.1944	L	0.38649	1.16	0.25562	N	0.986986	B	0.25105	0.118	B	0.27796	0.083	T	0.43310	-0.9399	10	0.33141	T	0.24	-8.131	6.4789	0.22051	0.0:0.6645:0.0:0.3355	.	215	Q8NH67	O52I2_HUMAN	V	215	ENSP00000308764:A215V	ENSP00000308764:A215V	A	+	2	0	OR52I2	4565262	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.170000	0.09897	0.373000	0.24621	-0.149000	0.13747	GCC		PASS	0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		23	291	23	291	---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221786	5221786	+	Silent	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:5221786A>G	ENST00000321255.1	-	1	144	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	49					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L49L(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATTGCCCAAAAGCACCATG	0.502																																						uc010qyz.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(145-147)TTG>CTG		olfactory receptor, family 51, subfamily V,							130.0	117.0	122.0					11																	5221786		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221786A>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.145T>C	11.37:g.5221786A>G							p.L49L	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	145	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	49			Helical; Name=1; (Potential).			Silent	SNP	ENST00000321255.1	37	c.145T>C	CCDS31375.1																																																																																				PASS	0.502	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		6	133	6	133	---	---	---	---
EIF3F	8665	broad.mit.edu	37	11	8016879	8016879	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:8016879G>C	ENST00000533626.1	+	9	1587	c.961G>C	c.(961-963)Gat>Cat	p.D321H	EIF3F_ENST00000309828.4_Missense_Mutation_p.D321H|EIF3F_ENST00000449102.2_Missense_Mutation_p.D172H|EIF3F_ENST00000537635.1_Missense_Mutation_p.D336H					eukaryotic translation initiation factor 3, subunit F									p.D321H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATAGTTCCCGATGACTTTGA	0.493																																						uc001mfw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(961-963)GAT>CAT		eukaryotic translation initiation factor 3,							211.0	203.0	205.0					11																	8016879		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8016879G>C	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.961G>C	11.37:g.8016879G>C	ENSP00000431800:p.Asp321His					EIF3F_uc010rbj.1_Missense_Mutation_p.D172H	p.D321H	NM_003754	NP_003745	O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	7	994	+			321						Missense_Mutation	SNP	ENST00000533626.1	37	c.961G>C	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533979	0.64972	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102;ENST00000531572	T;T;T;T	0.47869	1.41;1.41;1.41;0.83	4.34	4.34	0.51931	.	0.150530	0.64402	D	0.000018	T	0.58864	0.2152	L	0.41356	1.27	0.52501	D	0.999959	D	0.71674	0.998	D	0.71656	0.974	T	0.61594	-0.7031	10	0.59425	D	0.04	-6.7477	15.1692	0.72858	0.0:0.0:1.0:0.0	.	321	O00303	EIF3F_HUMAN	H	321;336;321;271;172;62	ENSP00000431800:D321H;ENSP00000442283:D336H;ENSP00000310040:D321H;ENSP00000396929:D172H	ENSP00000310040:D321H	D	+	1	0	EIF3F	7973455	1.000000	0.71417	0.550000	0.28217	0.642000	0.38348	9.596000	0.98267	2.361000	0.80049	0.555000	0.69702	GAT		PASS	0.493	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		23	263	23	263	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17153558	17153558	+	Silent	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:17153558T>C	ENST00000265970.7	-	11	2135	c.2136A>G	c.(2134-2136)tcA>tcG	p.S712S	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.S332S	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	712	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.S712S(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TGTGAGACAGTGAACATATCA	0.279																																						uc001mmq.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(2134-2136)TCA>TCG		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						87.0	91.0	90.0					11																	17153558		2200	4289	6489	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17153558T>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2136A>G	11.37:g.17153558T>C						PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.S332S|PIK3C2A_uc001mmr.3_Intron	p.S712S	NM_002645	NP_002636	O00443	P3C2A_HUMAN			11	2202	-			712					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.2136A>G	CCDS7824.1																																																																																				PASS	0.279	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	140	7	140	---	---	---	---
RCN1	5954	broad.mit.edu	37	11	32118747	32118747	+	Silent	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:32118747G>C	ENST00000054950.3	+	2	605	c.312G>C	c.(310-312)ctG>ctC	p.L104L	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Silent_p.L53L	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	104	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.L104L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CTGAGGAGCTGAAAACCTGGA	0.413																																						uc010reb.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(310-312)CTG>CTC		reticulocalbin 1 precursor							49.0	45.0	46.0					11																	32118747		2202	4299	6501	SO:0001819	synonymous_variant	5954					endoplasmic reticulum lumen	calcium ion binding	g.chr11:32118747G>C	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.312G>C	11.37:g.32118747G>C						RCN1_uc010rea.1_Silent_p.L53L|RCN1_uc001mtk.2_5'UTR	p.L104L	NM_002901	NP_002892	Q15293	RCN1_HUMAN			2	578	+	Lung SC(675;0.225)		104			EF-hand 1.		B7Z1M1|D3DR00	Silent	SNP	ENST00000054950.3	37	c.312G>C	CCDS7876.1																																																																																				PASS	0.413	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		4	33	4	33	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32956815	32956815	+	Silent	SNP	C	C	T	rs183189278	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:32956815C>T	ENST00000399302.2	+	4	3959	c.3624C>T	c.(3622-3624)ggC>ggT	p.G1208G	QSER1_ENST00000527788.1_Silent_p.G969G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1208								p.G1208G(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTGAAACTGGCGGTAACAGTC	0.428													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18690	0.0		0.001	False		,,,				2504	0.0					uc001mty.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3622-3624)GGC>GGT		glutamine and serine rich 1		C		7,3737		0,7,1865	120.0	119.0	119.0		3624	0.0	0.0	11		119	0,8206		0,0,4103	no	coding-synonymous	QSER1	NM_001076786.1		0,7,5968	TT,TC,CC		0.0,0.187,0.0586		1208/1736	32956815	7,11943	1872	4103	5975	SO:0001819	synonymous_variant	79832							g.chr11:32956815C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3624C>T	11.37:g.32956815C>T						QSER1_uc001mtz.1_Silent_p.G969G|QSER1_uc001mua.2_Silent_p.G713G	p.G1208G	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	3891	+	Breast(20;0.158)		1208					Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.3624C>T	CCDS41631.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.003	-2.543540	0.00142	0.00187	0.0	ENSG00000060749	ENST00000524678	.	.	.	5.31	0.0446	0.14226	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.32407	N	0.551143	.	.	.	.	.	.	T	0.39901	-0.9591	4	.	.	.	.	3.2283	0.06740	0.2222:0.4229:0.2411:0.1138	.	.	.	.	V	229	.	.	A	+	2	0	QSER1	32913391	0.003000	0.15002	0.004000	0.12327	0.008000	0.06430	-0.021000	0.12504	-0.258000	0.09446	-0.499000	0.04595	GCG		PASS	0.428	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		6	168	6	168	---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45950326	45950326	+	Missense_Mutation	SNP	G	G	A	rs140560270	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:45950326G>A	ENST00000531526.1	+	14	2207	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R668H|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R668H|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R699H|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R699H	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	699					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R699H(2)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GACTTGTCCCGCCACCATGGG	0.672													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16487	0.0		0.0	False		,,,				2504	0.0					uc001nbv.1																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2095-2097)CGC>CAC		glycosyltransferase-like 1B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	50.0	51.0		2096	5.6	0.9	11	dbSNP_134	51	0,8598		0,0,4299	no	missense	GYLTL1B	NM_152312.3	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	699/722	45950326	1,13003	2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45950326G>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.2096G>A	11.37:g.45950326G>A	ENSP00000432869:p.Arg699His					GYLTL1B_uc001nbw.1_Missense_Mutation_p.R668H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R699H|GYLTL1B_uc001nby.1_Missense_Mutation_p.R382H|GYLTL1B_uc001nbz.1_Missense_Mutation_p.A48T	p.R699H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	14	2207	+			699			Lumenal (Potential).		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.2096G>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608372	0.96626	2.27E-4	0.0	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	M	0.83118	2.625	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.978	D;D;P	0.68765	0.922;0.96;0.688	T	0.75258	-0.3381	10	0.62326	D	0.03	-27.9796	19.6939	0.96016	0.0:0.0:1.0:0.0	.	668;668;699	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	H	668;699;699;699;668	ENSP00000431932:R668H;ENSP00000432869:R699H;ENSP00000385235:R699H;ENSP00000324570:R699H;ENSP00000445044:R668H	ENSP00000324570:R699H	R	+	2	0	GYLTL1B	45906902	1.000000	0.71417	0.898000	0.35279	0.966000	0.64601	7.597000	0.82733	2.643000	0.89663	0.655000	0.94253	CGC		PASS	0.672	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		5	127	5	127	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46920945	46920945	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:46920945C>A	ENST00000378623.1	-	5	782	c.540G>T	c.(538-540)gaG>gaT	p.E180D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	180	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.E180D(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACGACAGTTCTCCTCATCGG	0.572																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(538-540)GAG>GAT		low density lipoprotein receptor-related protein							176.0	144.0	155.0					11																	46920945		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920945C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.540G>T	11.37:g.46920945C>A	ENSP00000367888:p.Glu180Asp					LRP4_uc009ylh.1_Missense_Mutation_p.E131D	p.E180D	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	5	686	-			180			Extracellular (Potential).|LDL-receptor class A 4.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.540G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015889	0.35606	.	.	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.95724	-3.79;-3.79	5.55	-0.0885	0.13673	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	N	0.05574	-0.02	0.46298	D	0.998974	B;B	0.27013	0.01;0.166	B;B	0.29176	0.015;0.099	T	0.71170	-0.4671	10	0.12430	T	0.62	.	7.024	0.24930	0.0:0.6217:0.1182:0.26	.	225;180	C9JRN7;O75096	.;LRP4_HUMAN	D	180;131	ENSP00000367888:E180D;ENSP00000434763:E131D	ENSP00000367888:E180D	E	-	3	2	LRP4	46877521	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	1.213000	0.32407	-0.282000	0.09128	0.561000	0.74099	GAG		PASS	0.572	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		11	209	11	209	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58893237	58893237	+	Missense_Mutation	SNP	C	C	T	rs556804835		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:58893237C>T	ENST00000343597.3	+	4	1858	c.1667C>T	c.(1666-1668)gCg>gTg	p.A556V	FAM111B_ENST00000529618.1_Missense_Mutation_p.A526V|FAM111B_ENST00000411426.1_Missense_Mutation_p.A526V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	556							catalytic activity (GO:0003824)	p.A556V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AATGGAAATGCGTTTCCTCCA	0.383																																						uc001nnl.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(1666-1668)GCG>GTG		hypothetical protein LOC374393 isoform a							103.0	98.0	99.0					11																	58893237		2201	4295	6496	SO:0001583	missense	374393						catalytic activity	g.chr11:58893237C>T	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1667C>T	11.37:g.58893237C>T	ENSP00000341565:p.Ala556Val					FAM111B_uc001nnm.2_Missense_Mutation_p.A526V|FAM111B_uc010rko.1_Missense_Mutation_p.A526V	p.A556V	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1910	+			556					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1667C>T	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.781054	0.31502	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.31510	1.49;1.49;1.49	4.83	-2.51	0.06365	Peptidase cysteine/serine, trypsin-like (1);	0.527792	0.15478	N	0.260236	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	P	0.42993	0.797	B	0.32533	0.147	T	0.28808	-1.0032	10	0.31617	T	0.26	.	7.2016	0.25885	0.4814:0.2657:0.2529:0.0	.	556	Q6SJ93	F111B_HUMAN	V	526;526;556	ENSP00000393855:A526V;ENSP00000432875:A526V;ENSP00000341565:A556V	ENSP00000341565:A556V	A	+	2	0	FAM111B	58649813	0.000000	0.05858	0.004000	0.12327	0.046000	0.14306	-0.159000	0.10056	-0.277000	0.09193	-0.181000	0.13052	GCG		PASS	0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		13	148	13	148	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61067618	61067618	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:61067618C>T	ENST00000301764.7	-	27	3810	c.3413G>A	c.(3412-3414)cGg>cAg	p.R1138Q	DDB1_ENST00000450997.2_Missense_Mutation_p.R449Q|DDB1_ENST00000538470.1_Missense_Mutation_p.R185Q|DDB1_ENST00000451943.2_Missense_Mutation_p.R125Q	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1138	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.R1138Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTAATGGATCCGAGTTAGCTC	0.597								Nucleotide excision repair (NER)																														uc001nrc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(3412-3414)CGG>CAG	NER	damage-specific DNA binding protein 1							115.0	81.0	93.0					11																	61067618		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61067618C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3413G>A	11.37:g.61067618C>T	ENSP00000301764:p.Arg1138Gln						p.R1138Q	NM_001923	NP_001914	Q16531	DDB1_HUMAN			27	3639	-			1138			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3413G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669949	0.88348	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.67953	2.075	0.80722	D	1	D	0.58970	0.984	B	0.37601	0.254	T	0.82285	-0.0533	10	0.56958	D	0.05	-17.8348	18.2015	0.89839	0.0:1.0:0.0:0.0	.	1138	Q16531	DDB1_HUMAN	Q	1138;125;449;185	ENSP00000301764:R1138Q;ENSP00000399813:R125Q;ENSP00000388705:R449Q;ENSP00000441522:R185Q	ENSP00000301764:R1138Q	R	-	2	0	DDB1	60824194	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.066000	0.76734	2.741000	0.93983	0.555000	0.69702	CGG		PASS	0.597	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		11	51	11	51	---	---	---	---
SDHAF2	54949	broad.mit.edu	37	11	61205522	61205522	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:61205522A>G	ENST00000301761.2	+	3	381	c.307A>G	c.(307-309)Aac>Gac	p.N103D	SDHAF2_ENST00000537782.1_Missense_Mutation_p.N103D|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.N91D|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000534878.1_Missense_Mutation_p.N103D	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2									p.N103D(1)		large_intestine(3)|lung(4)|ovary(2)	9						AAAGCAGCTGAACCTCTATGA	0.393																																						uc001nrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(307-309)AAC>GAC		succinate dehydrogenase complex assembly factor							167.0	155.0	159.0					11																	61205522		2202	4299	6501	SO:0001583	missense	54949	Familial_Paragangliomas			mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205522A>G	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.307A>G	11.37:g.61205522A>G	ENSP00000301761:p.Asn103Asp						p.N103D	NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN			3	329	+			103						Missense_Mutation	SNP	ENST00000301761.2	37	c.307A>G	CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671276	0.47781	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	T;T	0.75260	-0.92;-0.92	6.17	6.17	0.99709	.	0.241987	0.49916	D	0.000139	T	0.38427	0.1040	N	0.00368	-1.59	0.80722	D	1	P	0.43542	0.81	P	0.45946	0.498	T	0.61623	-0.7025	10	0.02654	T	1	-31.3989	5.9184	0.19067	0.7769:0.0:0.0758:0.1473	.	103	Q9NX18	SDHF2_HUMAN	D	103	ENSP00000443130:N103D;ENSP00000301761:N103D	ENSP00000440939:N103D	N	+	1	0	SDHAF2;RP11-286N22.8	60962098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.858000	0.48356	2.371000	0.80710	0.533000	0.62120	AAC		PASS	0.393	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841		8	145	8	145	---	---	---	---
INCENP	3619	broad.mit.edu	37	11	61897526	61897526	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:61897526G>C	ENST00000394818.3	+	4	729	c.527G>C	c.(526-528)cGc>cCc	p.R176P	INCENP_ENST00000278849.4_Missense_Mutation_p.R176P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	176					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.R176P(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCAGTGAGCGCCAGAATGCT	0.617																																						uc001nsw.1																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(526-528)CGC>CCC		inner centromere protein antigens 135/155kDa							62.0	55.0	57.0					11																	61897526		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61897526G>C	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.527G>C	11.37:g.61897526G>C	ENSP00000378295:p.Arg176Pro					INCENP_uc009ynv.2_Missense_Mutation_p.R176P|INCENP_uc009ynw.1_Missense_Mutation_p.R176P|INCENP_uc001nsx.1_Missense_Mutation_p.R176P	p.R176P	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			4	729	+			176					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.527G>C	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004410	0.35320	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.23348	1.93;1.91	4.73	1.23	0.21249	.	0.408433	0.21084	N	0.080438	T	0.37320	0.0999	M	0.61703	1.905	0.19300	N	0.999979	D;P;P	0.71674	0.998;0.936;0.894	P;P;P	0.59056	0.851;0.699;0.503	T	0.10753	-1.0616	10	0.72032	D	0.01	.	7.6308	0.28238	0.3317:0.0:0.6683:0.0	.	176;176;176	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	P	176	ENSP00000378295:R176P;ENSP00000278849:R176P	ENSP00000278849:R176P	R	+	2	0	INCENP	61654102	0.255000	0.24002	0.203000	0.23512	0.045000	0.14185	0.357000	0.20199	0.409000	0.25649	0.561000	0.74099	CGC		PASS	0.617	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		13	74	13	74	---	---	---	---
EFEMP2	30008	broad.mit.edu	37	11	65635415	65635415	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:65635415T>C	ENST00000307998.6	-	10	1317	c.1087A>G	c.(1087-1089)Atc>Gtc	p.I363V	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.I363V	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	363					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.I363V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTCGCCTGGATCTGGAACACG	0.582																																						uc001ofy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1087-1089)ATC>GTC		EGF-containing fibulin-like extracellular matrix							115.0	108.0	110.0					11																	65635415		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635415T>C	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1087A>G	11.37:g.65635415T>C	ENSP00000309953:p.Ile363Val					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.I363V	p.I363V	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1281	-			363					A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1087A>G	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	T	33	5.202954	0.94997	.	.	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;D;D;D;T	0.85411	-1.98;-1.6;-1.55;-1.5;-1.28	5.37	5.37	0.77165	.	0.000000	0.53938	D	0.000057	D	0.90823	0.7118	M	0.75264	2.295	0.58432	D	0.999998	P;P	0.48640	0.913;0.803	P;P	0.61592	0.891;0.847	D	0.91621	0.5311	10	0.66056	D	0.02	.	13.3002	0.60321	0.0:0.0:0.0:1.0	.	363;363	E9PRU1;O95967	.;FBLN4_HUMAN	V	22;79;363;363;16	ENSP00000436536:I22V;ENSP00000436521:I79V;ENSP00000434151:I363V;ENSP00000309953:I363V;ENSP00000436526:I16V	ENSP00000309953:I363V	I	-	1	0	EFEMP2	65391991	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.689000	0.84165	2.044000	0.60594	0.374000	0.22700	ATC		PASS	0.582	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		22	161	22	161	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94731334	94731334	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:94731334G>A	ENST00000335080.5	+	3	1630	c.798G>A	c.(796-798)caG>caA	p.Q266Q	KDM4D_ENST00000536741.1_Silent_p.Q266Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	266	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.Q266Q(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCATAACTCAGGAGGCTGGAG	0.547																																						uc001pfe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)CAG>CAA		jumonji domain containing 2D							70.0	71.0	71.0					11																	94731334		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731334G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.798G>A	11.37:g.94731334G>A							p.Q266Q	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1630	+			266			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.798G>A	CCDS8302.1																																																																																				PASS	0.547	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		5	82	5	82	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107923528	107923528	+	Splice_Site	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:107923528G>A	ENST00000393094.2	+	5	1169	c.553G>A	c.(553-555)Gtt>Att	p.V185I		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	185					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.V185I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGAATCCTATGGTATGTTCTG	0.343																																						uc001pjv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)GTT>ATT		Vasopressin-activated calcium-mobilizing							88.0	86.0	86.0					11																	107923528		2201	4298	6499	SO:0001630	splice_region_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107923528G>A	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.553+1G>A	11.37:g.107923528G>A						CUL5_uc001pju.2_RNA	p.V185I	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	5	1220	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	185					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.553G>A	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.355886|5.355886	0.95854|0.95854	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000532782|ENST00000393094	.|T	.|0.76448	.|-1.02	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.172420	.|0.51477	.|D	.|0.000096	D|D	0.90140|0.90140	0.6919|0.6919	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D	.|0.60575	.|0.988	.|D	.|0.67103	.|0.949	D|D	0.91111|0.91111	0.4922|0.4922	5|10	.|0.72032	.|D	.|0.01	-17.1441|-17.1441	19.9574|19.9574	0.97228|0.97228	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|185	.|Q93034	.|CUL5_HUMAN	Y|I	81|185	.|ENSP00000376808:V185I	.|ENSP00000376808:V185I	C|V	+|+	2|1	0|0	CUL5|CUL5	107428738|107428738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	9.827000|9.827000	0.99397|0.99397	2.720000|2.720000	0.93068|0.93068	0.643000|0.643000	0.83706|0.83706	TGT|GTT		PASS	0.343	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1		Missense_Mutation	6	51	6	51	---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128781427	128781427	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr11:128781427C>T	ENST00000338350.4	+	3	611	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	KCNJ5_ENST00000529694.1_Missense_Mutation_p.R87C|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R87C			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	87					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.R87C(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCTCAAGTGGCGCTTCAACTT	0.552																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(259-261)CGC>TGC		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						151.0	127.0	135.0					11																	128781427		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781427C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.259C>T	11.37:g.128781427C>T	ENSP00000339960:p.Arg87Cys					KCNJ5_uc009zck.2_Missense_Mutation_p.R87C|KCNJ5_uc001qew.2_Missense_Mutation_p.R87C	p.R87C	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	573	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	87			Helical; Name=M1; (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.259C>T	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586187	0.86851	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95980	-3.87;-3.87;-3.87	5.21	5.21	0.72293	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.047201	0.85682	D	0.000000	D	0.98422	0.9475	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.99628	1.0985	10	0.87932	D	0	.	18.7604	0.91848	0.0:1.0:0.0:0.0	.	87	P48544	IRK5_HUMAN	C	87	ENSP00000433295:R87C;ENSP00000339960:R87C;ENSP00000434266:R87C	ENSP00000339960:R87C	R	+	1	0	KCNJ5	128286637	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.071000	0.71229	2.436000	0.82500	0.555000	0.69702	CGC		PASS	0.552	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		10	149	10	149	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1005492	1005492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:1005492C>T	ENST00000315939.6	+	24	6482	c.5839C>T	c.(5839-5841)Cag>Tag	p.Q1947*	WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q1699*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q2207*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q2445*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q1540*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1947					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.Q1947*(1)|p.Q2207*(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGGACGTTTTCAGGTGACAAC	0.488																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Nonsense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(5839-5841)CAG>TAG		WNK lysine deficient protein kinase 1							119.0	115.0	116.0					12																	1005492		2203	4300	6503	SO:0001587	stop_gained	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005492C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5839C>T	12.37:g.1005492C>T	ENSP00000313059:p.Gln1947*					WNK1_uc001qip.3_Nonsense_Mutation_p.Q1699*|WNK1_uc001qir.3_Nonsense_Mutation_p.Q1120*	p.Q1947*	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	6346	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1947					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	ENST00000315939.6	37	c.5839C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	50	17.026338	0.99877	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.6765	19.9197	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	1699;1947;2207;1120;2445;1540	.	ENSP00000252477:Q1120X	Q	+	1	0	WNK1	875753	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.329000	0.59260	2.702000	0.92279	0.655000	0.94253	CAG		PASS	0.488	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		5	114	5	114	---	---	---	---
ADIPOR2	79602	broad.mit.edu	37	12	1889659	1889659	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:1889659G>T	ENST00000357103.4	+	5	757	c.506G>T	c.(505-507)cGc>cTc	p.R169L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	169					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.R169L(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TATATGTTTCGCCCAAATATC	0.403																																						uc001qjm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)CGC>CTC		adiponectin receptor 2							151.0	155.0	153.0					12																	1889659		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889659G>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.506G>T	12.37:g.1889659G>T	ENSP00000349616:p.Arg169Leu					ADIPOR2_uc001qjn.2_Missense_Mutation_p.R169L	p.R169L	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	703	+	Ovarian(42;0.107)		169			Extracellular (Potential).		Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.506G>T	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118195	0.77323	.	.	ENSG00000006831	ENST00000357103	T	0.26223	1.75	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	N	0.25957	0.775	0.80722	D	1	B	0.32829	0.386	B	0.36418	0.224	T	0.02917	-1.1094	10	0.07813	T	0.8	-16.8535	20.1865	0.98220	0.0:0.0:1.0:0.0	.	169	Q86V24	ADR2_HUMAN	L	169	ENSP00000349616:R169L	ENSP00000349616:R169L	R	+	2	0	ADIPOR2	1759920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.775000	0.95449	0.655000	0.94253	CGC		PASS	0.403	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		32	275	32	275	---	---	---	---
A2M	2	broad.mit.edu	37	12	9265040	9265040	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:9265040C>A	ENST00000318602.7	-	3	670	c.363G>T	c.(361-363)atG>atT	p.M121I		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	121					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.M121I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CGTTCTTAACCATCACTGTGG	0.448																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(361-363)ATG>ATT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						111.0	107.0	108.0					12																	9265040		1939	4159	6098	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9265040C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.363G>T	12.37:g.9265040C>A	ENSP00000323929:p.Met121Ile					A2M_uc009zgk.1_Intron	p.M121I	NM_000014	NP_000005	P01023	A2MG_HUMAN			3	476	-			121					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.363G>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	4.611	0.113597	0.08831	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.40756	1.02;1.02	5.77	0.776	0.18532	.	0.588299	0.15711	N	0.248407	T	0.14917	0.0360	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.48119	T	0.1	.	4.4993	0.11856	0.1438:0.5445:0.0:0.3116	.	121	P01023	A2MG_HUMAN	I	121;136;121	ENSP00000323929:M121I;ENSP00000385710:M121I	ENSP00000323929:M121I	M	-	3	0	A2M	9156307	0.343000	0.24818	0.001000	0.08648	0.007000	0.05969	0.136000	0.15974	-0.119000	0.11830	-0.808000	0.03180	ATG		PASS	0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	60	7	60	---	---	---	---
GSG1	83445	broad.mit.edu	37	12	13243687	13243687	+	Silent	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:13243687T>C	ENST00000432710.2	-	2	246	c.114A>G	c.(112-114)tcA>tcG	p.S38S	GSG1_ENST00000396310.2_Silent_p.S22S|GSG1_ENST00000537302.1_Silent_p.S25S|GSG1_ENST00000351606.6_Silent_p.S38S|GSG1_ENST00000457134.2_Silent_p.S25S|GSG1_ENST00000396302.3_Silent_p.S25S|GSG1_ENST00000324458.8_Silent_p.S38S|GSG1_ENST00000337630.6_Silent_p.S25S	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	25						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S38S(2)|p.S25S(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGAAGCTGAGTGATAGCATGC	0.552																																						uc001rbn.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(112-114)TCA>TCG		germ cell associated 1 isoform 4							120.0	105.0	110.0					12																	13243687		2203	4300	6503	SO:0001819	synonymous_variant	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13243687T>C	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.114A>G	12.37:g.13243687T>C						GSG1_uc001rbj.2_Silent_p.S25S|GSG1_uc001rbk.2_Silent_p.S25S|GSG1_uc001rbl.2_Silent_p.S25S|GSG1_uc001rbm.2_Silent_p.S25S|GSG1_uc001rbo.2_Silent_p.S38S|GSG1_uc001rbp.2_Silent_p.S38S|GSG1_uc001rbq.1_Silent_p.S38S	p.S38S	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	2	287	-		Prostate(47;0.183)	25			Helical; (Potential).		Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Silent	SNP	ENST00000432710.2	37	c.114A>G	CCDS55808.1																																																																																				PASS	0.552	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		6	113	6	113	---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49170131	49170131	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:49170131C>T	ENST00000307885.4	-	7	2232	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R513H|ADCY6_ENST00000357869.3_Missense_Mutation_p.R513H	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	513					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R513H(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GATGTGGATGCGGCTGTATGT	0.667																																						uc001rsh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1537-1539)CGC>CAC		adenylate cyclase 6 isoform a							114.0	91.0	99.0					12																	49170131		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170131C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1538G>A	12.37:g.49170131C>T	ENSP00000311405:p.Arg513His					ADCY6_uc001rsj.3_Missense_Mutation_p.R513H|ADCY6_uc001rsi.3_Missense_Mutation_p.R513H|ADCY6_uc010slw.1_5'Flank	p.R513H	NM_015270	NP_056085	O43306	ADCY6_HUMAN			7	2198	-			513			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1538G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676888	0.67928	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.81579	-1.51;-1.51;-1.51	4.0	4.0	0.46444	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000001	D	0.88757	0.6523	M	0.73598	2.24	0.58432	D	0.999994	D;D	0.89917	0.973;1.0	B;D	0.91635	0.306;0.999	D	0.90044	0.4144	10	0.62326	D	0.03	.	15.398	0.74812	0.0:1.0:0.0:0.0	.	513;513	O43306-2;O43306	.;ADCY6_HUMAN	H	513	ENSP00000350536:R513H;ENSP00000446730:R513H;ENSP00000311405:R513H	ENSP00000311405:R513H	R	-	2	0	ADCY6	47456398	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	7.590000	0.82653	2.237000	0.73441	0.313000	0.20887	CGC		PASS	0.667	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		4	81	4	81	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49421039	49421039	+	Nonsense_Mutation	SNP	G	G	A	rs398123721		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:49421039G>A	ENST00000301067.7	-	48	14709	c.14710C>T	c.(14710-14712)Cga>Tga	p.R4904*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4904					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4904*(1)|p.R4634*(1)									GAGAGCTGTCGCACATCCAGA	0.612																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(14710-14712)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							80.0	86.0	84.0					12																	49421039		1928	4096	6024	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49421039G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14710C>T	12.37:g.49421039G>A	ENSP00000301067:p.Arg4904*	HNSCC(34;0.089)					p.R4904*	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	14710	-			4904					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.14710C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	55	23.487047	0.99955	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.03	3.09	0.35607	.	0.000000	0.30714	N	0.009029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.1659	0.42879	0.0:0.0:0.6254:0.3746	.	.	.	.	X	4904	.	ENSP00000301067:R4904X	R	-	1	2	MLL2	47707306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.890000	0.63178	0.987000	0.38709	0.655000	0.94253	CGA		PASS	0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	152	6	152	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56078904	56078904	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:56078904G>T	ENST00000555728.1	-	26	3512	c.3484C>A	c.(3484-3486)Ctg>Atg	p.L1162M	ITGA7_ENST00000257879.6_Missense_Mutation_p.L1118M|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000347027.6_Missense_Mutation_p.L1112M|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Missense_Mutation_p.L1025M|ITGA7_ENST00000553804.1_Missense_Mutation_p.L1122M			Q13683	ITA7_HUMAN	integrin, alpha 7	1162	3 X 4 AA repeats of D-X-H-P.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.L1122M(1)|p.L1118M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCAGCAGCCAGGATGGGGTGT	0.682																																						uc001shh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(3364-3366)CTG>ATG		integrin alpha 7 isoform 1 precursor							35.0	36.0	35.0					12																	56078904		2203	4299	6502	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078904G>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3484C>A	12.37:g.56078904G>T	ENSP00000452387:p.Leu1162Met					ITGA7_uc001shg.2_Missense_Mutation_p.L1118M|ITGA7_uc010sps.1_Missense_Mutation_p.L1025M|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.L365M|ITGA7_uc009znx.2_Missense_Mutation_p.L999M	p.L1122M	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			25	3584	-			1162			3 X 4 AA repeats of D-X-H-P.|Cytoplasmic (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3364C>A		.	.	.	.	.	.	.	.	.	.	G	17.06	3.292960	0.60086	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	T;T;T;T;T	0.73469	-0.74;-0.73;-0.67;-0.34;-0.75	4.76	0.714	0.18180	.	0.261082	0.17879	U	0.158922	T	0.69351	0.3101	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.982;0.999;0.982	T	0.66544	-0.5897	10	0.66056	D	0.02	.	4.2653	0.10761	0.3552:0.0:0.4959:0.1489	.	1025;1162;1122;1181	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	M	1122;1118;1112;1025;1162	ENSP00000452120:L1122M;ENSP00000257879:L1118M;ENSP00000343009:L1112M;ENSP00000393844:L1025M;ENSP00000452387:L1162M	ENSP00000257879:L1118M	L	-	1	2	ITGA7	54365171	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	0.847000	0.27696	0.083000	0.17047	0.555000	0.69702	CTG		PASS	0.682	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		6	40	6	40	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57593149	57593149	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:57593149C>T	ENST00000243077.3	+	61	10297	c.9831C>T	c.(9829-9831)gaC>gaT	p.D3277D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3277					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D3277D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCCATGGACCTGCATGTCT	0.627																																						uc001snd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(9829-9831)GAC>GAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						146.0	137.0	140.0					12																	57593149		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57593149C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9831C>T	12.37:g.57593149C>T							p.D3277D	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	61	10297	+			3277			LDL-receptor class B 30.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.9831C>T	CCDS8932.1																																																																																				PASS	0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		6	154	6	154	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94965417	94965417	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:94965417G>C	ENST00000261226.4	-	4	1359	c.1228C>G	c.(1228-1230)Ctc>Gtc	p.L410V	TMCC3_ENST00000551457.1_Missense_Mutation_p.L379V	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	410						integral component of membrane (GO:0016021)		p.L410V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCCCAGGAGAACTTTAGCA	0.527																																						uc001tdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1228-1230)CTC>GTC		transmembrane and coiled-coil domain family 3							229.0	209.0	216.0					12																	94965417		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94965417G>C	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1228C>G	12.37:g.94965417G>C	ENSP00000261226:p.Leu410Val					TMCC3_uc001tdi.2_Missense_Mutation_p.L379V	p.L410V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			4	1346	-			410					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.1228C>G	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403332	0.62288	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.52526	0.66;0.66	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	L	0.49571	1.57	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.61272	-0.7096	10	0.44086	T	0.13	-23.1783	19.5055	0.95113	0.0:0.0:1.0:0.0	.	410	Q9ULS5	TMCC3_HUMAN	V	410;379	ENSP00000261226:L410V;ENSP00000449888:L379V	ENSP00000261226:L410V	L	-	1	0	TMCC3	93489548	1.000000	0.71417	0.747000	0.31113	0.625000	0.37756	7.562000	0.82300	2.613000	0.88420	0.561000	0.74099	CTC		PASS	0.527	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		8	114	8	114	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94965482	94965482	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:94965482G>A	ENST00000261226.4	-	4	1294	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	TMCC3_ENST00000551457.1_Missense_Mutation_p.S357F	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	388						integral component of membrane (GO:0016021)		p.S388F(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCAGCTTAGAAATGCGAGT	0.552																																						uc001tdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1162-1164)TCT>TTT		transmembrane and coiled-coil domain family 3							137.0	129.0	132.0					12																	94965482		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94965482G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1163C>T	12.37:g.94965482G>A	ENSP00000261226:p.Ser388Phe					TMCC3_uc001tdi.2_Missense_Mutation_p.S357F	p.S388F	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			4	1281	-			388			Potential.		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.1163C>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923180	0.73213	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.56444	0.46;0.46	5.55	5.55	0.83447	.	0.157654	0.64402	D	0.000017	T	0.72203	0.3431	M	0.80183	2.485	0.80722	D	1	D	0.55172	0.97	P	0.57846	0.828	T	0.75836	-0.3177	10	0.72032	D	0.01	-7.7525	19.5055	0.95113	0.0:0.0:1.0:0.0	.	388	Q9ULS5	TMCC3_HUMAN	F	388;357	ENSP00000261226:S388F;ENSP00000449888:S357F	ENSP00000261226:S388F	S	-	2	0	TMCC3	93489613	1.000000	0.71417	0.351000	0.25721	0.786000	0.44442	6.427000	0.73378	2.613000	0.88420	0.561000	0.74099	TCT		PASS	0.552	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		9	75	9	75	---	---	---	---
TDG	6996	broad.mit.edu	37	12	104378655	104378655	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:104378655C>T	ENST00000392872.3	+	8	1155	c.921C>T	c.(919-921)gaC>gaT	p.D307D	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Silent_p.D103D|TDG_ENST00000544861.1_Silent_p.D164D|TDG_ENST00000266775.9_Silent_p.D303D	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	307					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.D307D(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAATATGGACGTTCAAGAGG	0.373								Base excision repair (BER), DNA glycosylases																														uc001tkg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(919-921)GAC>GAT	BER_DNA_glycosylases	thymine-DNA glycosylase							148.0	128.0	135.0					12																	104378655		2203	4300	6503	SO:0001819	synonymous_variant	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104378655C>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.921C>T	12.37:g.104378655C>T						TDG_uc009zuk.2_Silent_p.D303D|TDG_uc010swi.1_Silent_p.D164D|TDG_uc010swj.1_Silent_p.D95D	p.D307D	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	8	1144	+			307					Q8IUZ6|Q8IZM3	Silent	SNP	ENST00000392872.3	37	c.921C>T	CCDS9095.1																																																																																				PASS	0.373	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			6	119	6	119	---	---	---	---
KIAA1033	23325	broad.mit.edu	37	12	105536924	105536924	+	Missense_Mutation	SNP	G	G	A	rs374704979		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:105536924G>A	ENST00000332180.5	+	20	2000	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H		NM_015275.1	NP_056090.1			KIAA1033									p.R638H(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGTGCTTTGCGCGACTGTGTA	0.333																																						uc001tld.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(1912-1914)CGC>CAC		hypothetical protein LOC23325							85.0	75.0	78.0					12																	105536924		1847	4090	5937	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105536924G>A	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1913G>A	12.37:g.105536924G>A	ENSP00000328062:p.Arg638His					KIAA1033_uc010swr.1_Missense_Mutation_p.R639H|KIAA1033_uc010sws.1_Missense_Mutation_p.R450H	p.R638H	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			20	2000	+			638						Missense_Mutation	SNP	ENST00000332180.5	37	c.1913G>A	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091930	0.94149	.	.	ENSG00000136051	ENST00000332180	T	0.43294	0.95	5.8	5.8	0.92144	.	0.046829	0.85682	D	0.000000	T	0.46678	0.1405	L	0.39898	1.24	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.48454	0.578;0.578	T	0.37337	-0.9710	10	0.51188	T	0.08	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	639;638	B7ZKT9;Q2M389	.;WASH7_HUMAN	H	638	ENSP00000328062:R638H	ENSP00000328062:R638H	R	+	2	0	KIAA1033	104061054	1.000000	0.71417	0.983000	0.44433	0.908000	0.53690	9.869000	0.99810	2.740000	0.93945	0.650000	0.86243	CGC		PASS	0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		3	45	3	45	---	---	---	---
ANAPC5	51433	broad.mit.edu	37	12	121746350	121746350	+	Missense_Mutation	SNP	G	G	A	rs115934510		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:121746350G>A	ENST00000261819.3	-	17	2322	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	ANAPC5_ENST00000344395.4_Missense_Mutation_p.A622V|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A622V|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A721V|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A400V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	734					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.A734V(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAGAGCATCGCACACCGGTT	0.562																																						uc001uag.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(3)|breast(2)|kidney(1)	6						c.(2200-2202)GCG>GTG		anaphase-promoting complex subunit 5 isoform a							111.0	104.0	107.0					12																	121746350		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746350G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2201C>T	12.37:g.121746350G>A	ENSP00000261819:p.Ala734Val					ANAPC5_uc010szu.1_Missense_Mutation_p.A400V|ANAPC5_uc001uae.2_Missense_Mutation_p.A298V|ANAPC5_uc010szv.1_Missense_Mutation_p.A336V|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.A622V	p.A734V	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN			17	2323	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		734					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2201C>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355967	0.95854	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T	0.75367	-0.93	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.106601	0.64402	D	0.000005	T	0.82033	0.4949	L	0.58101	1.795	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.995	P;P;P	0.57009	0.811;0.559;0.652	D	0.83620	0.0139	10	0.87932	D	0	.	18.6393	0.91389	0.0:0.0:1.0:0.0	.	400;622;734	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	V	622;721;734;400;336;622	ENSP00000438754:A400V	ENSP00000261819:A734V	A	-	2	0	ANAPC5	120230733	1.000000	0.71417	0.617000	0.29091	0.991000	0.79684	8.733000	0.91539	2.646000	0.89796	0.563000	0.77884	GCG		PASS	0.562	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			18	159	18	159	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	122016728	122016728	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:122016728C>T	ENST00000377071.4	-	2	322	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	RP13-941N14.1_ENST00000541574.1_lincRNA|KDM2B_ENST00000536437.1_De_novo_Start_OutOfFrame|KDM2B_ENST00000538046.2_Missense_Mutation_p.V84M|KDM2B_ENST00000377069.4_Missense_Mutation_p.V53M	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	84					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.V84M(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGGCGTGCACGAAGTCCCCC	0.697																																						uc001uat.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(250-252)GTG>ATG		F-box and leucine-rich repeat protein 10 isoform							38.0	44.0	42.0					12																	122016728		2075	4195	6270	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:122016728C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.250G>A	12.37:g.122016728C>T	ENSP00000366271:p.Val84Met					KDM2B_uc001uas.2_Missense_Mutation_p.V53M|KDM2B_uc001uau.2_Translation_Start_Site|KDM2B_uc001uav.3_Missense_Mutation_p.V84M	p.V84M	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			2	354	-			84					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.250G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939799	0.73557	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000539371	T;T;T	0.72835	-0.69;-0.69;-0.69	4.06	4.06	0.47325	.	0.309988	0.22740	N	0.056209	T	0.78923	0.4360	M	0.87758	2.905	0.80722	D	1	D;D;D	0.61697	0.971;0.971;0.99	B;P;B	0.47206	0.379;0.541;0.391	D	0.85396	0.1128	10	0.87932	D	0	-15.2607	16.5044	0.84266	0.0:1.0:0.0:0.0	.	84;84;53	E7EML5;Q8NHM5;A8MRS1	.;KDM2B_HUMAN;.	M	84;53;84;84;84;47;53	ENSP00000366269:V53M;ENSP00000366271:V84M;ENSP00000398279:V47M	ENSP00000261824:V84M	V	-	1	0	KDM2B	120501111	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.274000	0.65569	2.105000	0.64084	0.456000	0.33151	GTG		PASS	0.697	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		6	62	6	62	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133331494	133331494	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr12:133331494C>A	ENST00000357997.5	-	2	496	c.407G>T	c.(406-408)aGg>aTg	p.R136M	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R74M|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R136M	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	136					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.R136M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTTCAAAATCCTTTGTGGGTC	0.498																																						uc001ukx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)AGG>ATG		ankyrin repeat and LEM domain containing 2							61.0	62.0	61.0					12																	133331494		1904	4131	6035	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331494C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.407G>T	12.37:g.133331494C>A	ENSP00000350686:p.Arg136Met					ANKLE2_uc001uky.3_Missense_Mutation_p.R74M	p.R136M	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	474	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	136					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.407G>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520956	0.44866	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.32272	1.9;1.89;1.46	5.07	1.81	0.25067	.	1.269830	0.04974	N	0.464333	T	0.32406	0.0828	M	0.63428	1.95	0.09310	N	1	P;P	0.47191	0.891;0.826	P;B	0.45276	0.475;0.351	T	0.33189	-0.9878	10	0.48119	T	0.1	-3.3056	0.5693	0.00692	0.1816:0.357:0.1758:0.2856	.	136;136	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	M	74;136;136	ENSP00000446268:R74M;ENSP00000350686:R136M;ENSP00000337651:R136M	ENSP00000337651:R136M	R	-	2	0	ANKLE2	131841567	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-1.233000	0.02934	1.139000	0.42245	0.650000	0.86243	AGG		PASS	0.498	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			7	89	7	89	---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46425674	46425674	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr13:46425674C>A	ENST00000400405.2	-	1	197	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	31					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A31S(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGTTGCCCGGCAGCGGAGAAA	0.483																																						uc001vap.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(91-93)GCC>TCC		seven in absentia homolog 3							81.0	88.0	86.0					13																	46425674		1951	4164	6115	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46425674C>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.91G>T	13.37:g.46425674C>A	ENSP00000383256:p.Ala31Ser						p.A31S	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			1	173	-			31					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.91G>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833844	0.50951	.	.	ENSG00000215475	ENST00000400405	.	.	.	5.25	4.41	0.53225	.	0.075209	0.53938	U	0.000060	T	0.41396	0.1157	N	0.24115	0.695	0.34676	D	0.724238	P	0.51057	0.941	P	0.49140	0.601	T	0.53662	-0.8407	9	0.33940	T	0.23	.	13.0927	0.59174	0.0:0.9227:0.0:0.0773	.	31	Q8IW03	SIAH3_HUMAN	S	31	.	ENSP00000383256:A31S	A	-	1	0	SIAH3	45323675	0.993000	0.37304	0.384000	0.26145	0.518000	0.34316	3.458000	0.53014	1.352000	0.45808	0.655000	0.94253	GCC		PASS	0.483	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		4	120	4	120	---	---	---	---
KPNA3	3839	broad.mit.edu	37	13	50280449	50280449	+	Silent	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr13:50280449T>C	ENST00000261667.3	-	13	1506	c.1092A>G	c.(1090-1092)gtA>gtG	p.V364V		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	364	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.V364V(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CAGCATCTATTACAGCTTGAA	0.358																																						uc001vdj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1090-1092)GTA>GTG		karyopherin alpha 3							112.0	96.0	101.0					13																	50280449		2203	4300	6503	SO:0001819	synonymous_variant	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50280449T>C	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1092A>G	13.37:g.50280449T>C							p.V364V	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	13	1507	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	364			ARM 8.|NLS binding site (minor) (By similarity).		O00191|O43195|Q5JVM9|Q96AA7	Silent	SNP	ENST00000261667.3	37	c.1092A>G	CCDS9421.1																																																																																				PASS	0.358	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		4	75	4	75	---	---	---	---
SLC15A1	6564	broad.mit.edu	37	13	99364785	99364785	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr13:99364785C>A	ENST00000376503.5	-	10	832	c.777G>T	c.(775-777)gaG>gaT	p.E259D		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	259					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.E259D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCAGCCAGTGCTCCCTCTTGG	0.418																																						uc001vno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)GAG>GAT		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						131.0	123.0	125.0					13																	99364785		2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99364785C>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.777G>T	13.37:g.99364785C>A	ENSP00000365686:p.Glu259Asp						p.E259D	NM_005073	NP_005064	P46059	S15A1_HUMAN			10	854	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		259			Cytoplasmic (Potential).		Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.777G>T	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429773	0.43122	.	.	ENSG00000088386	ENST00000376503	T	0.04654	3.58	5.24	3.07	0.35406	Major facilitator superfamily domain, general substrate transporter (1);	0.312733	0.33272	N	0.005085	T	0.11281	0.0275	L	0.60012	1.86	0.80722	D	1	B	0.31859	0.343	P	0.46389	0.515	T	0.04294	-1.0962	10	0.56958	D	0.05	-3.3667	10.1172	0.42598	0.0:0.7463:0.0:0.2537	.	259	P46059	S15A1_HUMAN	D	259	ENSP00000365686:E259D	ENSP00000365686:E259D	E	-	3	2	SLC15A1	98162786	0.212000	0.23540	1.000000	0.80357	0.996000	0.88848	-0.454000	0.06770	1.301000	0.44836	0.650000	0.86243	GAG		PASS	0.418	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		15	109	15	109	---	---	---	---
C14orf183	196913	broad.mit.edu	37	14	50550460	50550460	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr14:50550460C>G	ENST00000305273.1	-	5	883	c.884G>C	c.(883-885)tGg>tCg	p.W295S	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	295								p.W295S(1)		endometrium(2)|large_intestine(2)|lung(3)	7						GACTGGCATCCATTCGCTGCT	0.552																																						uc010tqk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)TGG>TCG		hypothetical protein LOC196913							68.0	78.0	75.0					14																	50550460		2069	4218	6287	SO:0001583	missense	196913							g.chr14:50550460C>G	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.884G>C	14.37:g.50550460C>G	ENSP00000303234:p.Trp295Ser						p.W295S	NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN			5	884	-			295						Missense_Mutation	SNP	ENST00000305273.1	37	c.884G>C	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	C	3.224	-0.159003	0.06544	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.82	-0.13	0.13498	.	.	.	.	.	T	0.16428	0.0395	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.20605	-1.0270	8	0.87932	D	0	.	3.4837	0.07611	0.0:0.4623:0.1975:0.3401	.	295	Q8WXQ3	CN183_HUMAN	S	295	.	ENSP00000303234:W295S	W	-	2	0	C14orf183	49620210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.294000	0.19047	-0.027000	0.13873	-0.515000	0.04445	TGG		PASS	0.552	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830		13	112	13	112	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53619565	53619565	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr14:53619565G>A	ENST00000323669.5	-	1	251	c.252C>T	c.(250-252)ctC>ctT	p.L84L	AL356020.1_ENST00000584587.1_RNA|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000395606.1_Silent_p.L84L|DDHD1_ENST00000357758.3_Silent_p.L84L	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	84					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L84L(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTCGTCACTGAGGCAGGGGT	0.701																																						uc001xai.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(250-252)CTC>CTT		DDHD domain containing 1 isoform c							30.0	35.0	34.0					14																	53619565		2202	4300	6502	SO:0001819	synonymous_variant	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619565G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.252C>T	14.37:g.53619565G>A						DDHD1_uc001xaj.2_Silent_p.L84L|DDHD1_uc001xah.2_Silent_p.L84L	p.L84L	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			1	482	-	Breast(41;0.037)		84					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	c.252C>T	CCDS53895.1																																																																																				PASS	0.701	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			5	31	5	31	---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64898281	64898281	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr14:64898281C>T	ENST00000545908.1	+	14	1740	c.1511C>T	c.(1510-1512)gCc>gTc	p.A504V	MTHFD1_ENST00000216605.8_Missense_Mutation_p.A448V|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	448	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.A448V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GACATCCATGCCATCACTGCA	0.463																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1342-1344)GCC>GTC		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						100.0	83.0	89.0					14																	64898281		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64898281C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1511C>T	14.37:g.64898281C>T	ENSP00000438588:p.Ala504Val					MTHFD1_uc010aqe.2_Missense_Mutation_p.A484V|MTHFD1_uc010aqf.2_Missense_Mutation_p.A504V	p.A448V	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	14	1730	+			448			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.1343C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.799298	0.96960	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.87	5.87	0.94306	.	0.236062	0.43260	D	0.000589	T	0.78509	0.4294	H	0.99286	4.5	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.993	D;D;P	0.73708	0.969;0.981;0.894	D	0.86827	0.2008	10	0.87932	D	0	-18.3279	20.5827	0.99408	0.0:1.0:0.0:0.0	.	504;448;448	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	V	504;448;504;428	ENSP00000438588:A504V;ENSP00000450560:A448V;ENSP00000216605:A504V;ENSP00000451309:A428V	ENSP00000216605:A448V	A	+	2	0	MTHFD1	63968034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.463	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			4	74	4	74	---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	97018866	97018866	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr14:97018866A>C	ENST00000216277.8	+	17	1791	c.1571A>C	c.(1570-1572)gAc>gCc	p.D524A	PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524A	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	524	Ser/Thr-rich.	Interaction with RNA. {ECO:0000250}.			gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.D524A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGCAGCCTCGACTTGTCTATG	0.413																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1570-1572)GAC>GCC		poly(A) polymerase alpha							112.0	103.0	106.0					14																	97018866		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97018866A>C	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1571A>C	14.37:g.97018866A>C	ENSP00000216277:p.Asp524Ala					PAPOLA_uc001yfr.2_Missense_Mutation_p.D524A|PAPOLA_uc010twv.1_Missense_Mutation_p.D524A|PAPOLA_uc010avp.2_Missense_Mutation_p.D274A	p.D524A	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	17	1781	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	524			Ser/Thr-rich.	Interaction with RNA (By similarity).	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1571A>C	CCDS9946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.62|16.62	3.173265|3.173265	0.57584|0.57584	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626|ENST00000556459	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71400|0.71400	0.3335|0.3335	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28933|.	0.228;0.179;0.179|.	B;B;B|.	0.27796|.	0.083;0.052;0.052|.	T|T	0.70726|0.70726	-0.4793|-0.4793	9|5	0.30854|.	T|.	0.27|.	.|.	15.5924|15.5924	0.76543|0.76543	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	540;540;524|.	F5H5I8;B4DYF4;P51003|.	.;.;PAPOA_HUMAN|.	A|P	524;540;524;274|25	.|.	ENSP00000216277:D524A|.	D|T	+|+	2|1	0|0	PAPOLA|PAPOLA	96088619|96088619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.672000|7.672000	0.83956|0.83956	2.137000|2.137000	0.66172|0.66172	0.528000|0.528000	0.53228|0.53228	GAC|ACT		PASS	0.413	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			6	101	6	101	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28493709	28493709	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:28493709G>C	ENST00000261609.7	-	21	3332	c.3224C>G	c.(3223-3225)tCa>tGa	p.S1075*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S1075*(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)		AGAAATATCTGAGGTCTGACC	0.393																																						uc001zbj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3223-3225)TCA>TGA		hect domain and RLD 2							91.0	88.0	89.0					15																	28493709		2203	4300	6503	SO:0001587	stop_gained	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.chr15:28493709G>C	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.3224C>G	15.37:g.28493709G>C	ENSP00000261609:p.Ser1075*						p.S1075*	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)	21	3330	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1075						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.3224C>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	42	9.596008	0.99214	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.08	5.08	0.68730	.	0.704813	0.13742	N	0.365920	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.8403	0.92182	0.0:0.0:1.0:0.0	.	.	.	.	X	1075	.	ENSP00000261609:S1075X	S	-	2	0	HERC2	26167304	0.912000	0.30974	0.836000	0.33094	0.955000	0.61496	3.191000	0.50981	2.524000	0.85096	0.467000	0.42956	TCA		PASS	0.393	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		3	51	3	51	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42710039	42710039	+	Silent	SNP	G	G	A	rs201113453	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:42710039G>A	ENST00000263805.4	-	18	5885	c.5559C>T	c.(5557-5559)tgC>tgT	p.C1853C	ZNF106_ENST00000565611.1_Silent_p.C1038C|ZNF106_ENST00000565380.1_Silent_p.C1081C	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1853					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.C1853C(1)									AAAAAGCATCGCAGTTCTTCC	0.463													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18952	0.0		0.0	False		,,,				2504	0.0					uc001zpw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(5557-5559)TGC>TGT		zinc finger protein 106 homolog		G		4,4402	8.1+/-20.4	0,4,2199	128.0	119.0	122.0		5559	-2.9	1.0	15		122	7,8591	5.7+/-21.5	0,7,4292	no	coding-synonymous	ZFP106	NM_022473.1		0,11,6491	AA,AG,GG		0.0814,0.0908,0.0846		1853/1884	42710039	11,12993	2203	4299	6502	SO:0001819	synonymous_variant	64397					nucleolus	zinc ion binding	g.chr15:42710039G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5559C>T	15.37:g.42710039G>A						ZFP106_uc001zpu.2_Silent_p.C951C|ZFP106_uc001zpv.2_Silent_p.C1038C|ZFP106_uc001zpx.2_Silent_p.C1081C	p.C1853C	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	18	5894	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	1853					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.5559C>T	CCDS32208.1																																																																																				PASS	0.463	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	90	8	90	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44920876	44920876	+	Silent	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:44920876G>C	ENST00000261866.7	-	10	2074	c.2058C>G	c.(2056-2058)ctC>ctG	p.L686L	SPG11_ENST00000559193.1_Silent_p.L686L|SPG11_ENST00000535302.2_Silent_p.L686L|SPG11_ENST00000558319.1_Silent_p.L686L|SPG11_ENST00000427534.2_Silent_p.L686L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	686					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.L686L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTCAAAGCTGAGTTTCTTCC	0.338																																						uc001ztx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2056-2058)CTC>CTG		spatacsin isoform 1							192.0	178.0	183.0					15																	44920876		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44920876G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2058C>G	15.37:g.44920876G>C						SPG11_uc010ueh.1_Silent_p.L686L|SPG11_uc010uei.1_Silent_p.L686L|SPG11_uc001zua.1_Silent_p.L686L	p.L686L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	10	2089	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	686			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.2058C>G	CCDS10112.1																																																																																				PASS	0.338	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			11	157	11	157	---	---	---	---
FAM227B	196951	broad.mit.edu	37	15	49882125	49882125	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:49882125G>A	ENST00000299338.6	-	4	488	c.185C>T	c.(184-186)tCa>tTa	p.S62L	FAM227B_ENST00000558594.1_Missense_Mutation_p.S62L|FAM227B_ENST00000561064.1_Missense_Mutation_p.S62L|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000560246.1_Missense_Mutation_p.S62L	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	62								p.S62L(1)									TGAAACAAATGAACTATCTTC	0.308																																						uc001zxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)TCA>TTA		hypothetical protein LOC196951							54.0	59.0	57.0					15																	49882125		2195	4286	6481	SO:0001583	missense	196951							g.chr15:49882125G>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.185C>T	15.37:g.49882125G>A	ENSP00000299338:p.Ser62Leu					C15orf33_uc001zxm.2_Missense_Mutation_p.S62L	p.S62L	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	4	479	-		all_lung(180;0.00187)	62					Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.185C>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820231	0.71028	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.62	4.62	0.57501	.	0.556446	0.15143	N	0.278165	T	0.74504	0.3725	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.996;0.996	P;D	0.64776	0.857;0.929	T	0.75405	-0.3329	9	0.72032	D	0.01	-0.2516	13.1424	0.59442	0.0:0.0:1.0:0.0	.	62;62	Q96M60-2;Q96M60	.;CO033_HUMAN	L	62	.	ENSP00000299338:S62L	S	-	2	0	C15orf33	47669417	1.000000	0.71417	0.996000	0.52242	0.735000	0.41995	4.082000	0.57635	2.554000	0.86153	0.591000	0.81541	TCA		PASS	0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		10	102	10	102	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65682603	65682603	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:65682603G>A	ENST00000352385.2	-	13	2507	c.2298C>T	c.(2296-2298)atC>atT	p.I766I		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	766	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I766I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						ACCGAAGCCAGATGGATGTGG	0.552																																						uc002aou.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2296-2298)ATC>ATT		immunoglobulin superfamily, DCC subclass, member							94.0	80.0	85.0					15																	65682603		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65682603G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2298C>T	15.37:g.65682603G>A						IGDCC4_uc002aot.1_Silent_p.I354I	p.I766I	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			13	2508	-			766			Fibronectin type-III 4.|Extracellular (Potential).		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.2298C>T	CCDS10206.1																																																																																				PASS	0.552	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		7	89	7	89	---	---	---	---
SMAD3	4088	broad.mit.edu	37	15	67358513	67358513	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:67358513C>T	ENST00000327367.4	+	1	331	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F7F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCCTGCCTTTCACTCCCCCGA	0.706																																						uc002aqj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(19-21)TTC>TTT		mothers against decapentaplegic homolog 3							34.0	35.0	34.0					15																	67358513		2195	4299	6494	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67358513C>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.21C>T	15.37:g.67358513C>T							p.F7F	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	1	319	+			7					A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.21C>T	CCDS10222.1																																																																																				PASS	0.706	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		3	13	3	13	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79339219	79339219	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:79339219C>T	ENST00000419573.3	-	5	1021	c.747G>A	c.(745-747)ctG>ctA	p.L249L	RASGRF1_ENST00000558480.2_Silent_p.L249L|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	249	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L249L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGCCTCCAGCATGCTGA	0.602																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(745-747)CTG>CTA		Ras protein-specific guanine							124.0	95.0	105.0					15																	79339219		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79339219C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.747G>A	15.37:g.79339219C>T						RASGRF1_uc002bep.2_Silent_p.L249L|RASGRF1_uc010blm.1_Silent_p.L171L|RASGRF1_uc002ber.3_Silent_p.L249L	p.L249L	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			5	1122	-			249			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.747G>A	CCDS10309.1																																																																																				PASS	0.602	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		11	104	11	104	---	---	---	---
ZNF592	9640	broad.mit.edu	37	15	85327190	85327190	+	Silent	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:85327190G>T	ENST00000560079.2	+	4	1572	c.1284G>T	c.(1282-1284)gtG>gtT	p.V428V	ZNF592_ENST00000299927.3_Silent_p.V428V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	428					cell death (GO:0008219)|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.V428V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGTGCCTGTGGAAGAGCACT	0.597																																						uc002bld.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(1282-1284)GTG>GTT		zinc finger protein 592							50.0	56.0	54.0					15																	85327190		2203	4299	6502	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327190G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1284G>T	15.37:g.85327190G>T						ZNF592_uc010upb.1_RNA	p.V428V	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1620	+			428					Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.1284G>T	CCDS32317.1																																																																																				PASS	0.597	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		6	84	6	84	---	---	---	---
TTC23	64927	broad.mit.edu	37	15	99758814	99758814	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr15:99758814C>T	ENST00000394132.2	-	8	1377	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	TTC23_ENST00000262074.4_Missense_Mutation_p.R187Q|TTC23_ENST00000558613.1_Missense_Mutation_p.R187Q|TTC23_ENST00000394129.2_Missense_Mutation_p.R187Q|TTC23_ENST00000394130.1_Missense_Mutation_p.R187Q|TTC23_ENST00000558663.1_Missense_Mutation_p.R187Q|TTC23_ENST00000394135.3_Missense_Mutation_p.R187Q|TTC23_ENST00000394136.1_Missense_Mutation_p.R187Q			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	187								p.R187Q(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TAATCTGATCCGTGCTTCAAT	0.408																																						uc002bur.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)CGG>CAG		tetratricopeptide repeat domain 23							197.0	182.0	187.0					15																	99758814		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99758814C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.560G>A	15.37:g.99758814C>T	ENSP00000377690:p.Arg187Gln					TTC23_uc002bus.2_Missense_Mutation_p.R187Q|TTC23_uc002but.2_Missense_Mutation_p.R187Q|TTC23_uc002buu.2_Missense_Mutation_p.R187Q|TTC23_uc002buv.2_Missense_Mutation_p.R187Q|TTC23_uc002bux.2_Missense_Mutation_p.R187Q|TTC23_uc002buw.2_Missense_Mutation_p.R187Q|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.R187Q|TTC23_uc010bor.2_Missense_Mutation_p.R187Q|TTC23_uc002buz.2_Missense_Mutation_p.R187Q	p.R187Q	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		7	1091	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		187			TPR 3.		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.560G>A	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102586	0.20632	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.76186	-0.76;-0.76;-0.76;-0.76;-0.03;-1.0	5.44	-0.201	0.13212	Tetratricopeptide-like helical (1);	0.305482	0.30338	N	0.009844	T	0.62804	0.2458	M	0.65975	2.015	0.09310	N	1	B;B	0.27498	0.18;0.059	B;B	0.17722	0.019;0.015	T	0.48246	-0.9052	10	0.12766	T	0.61	-6.4362	8.3876	0.32510	0.0:0.5608:0.0:0.4392	.	187;187	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	Q	187	ENSP00000377690:R187Q;ENSP00000377693:R187Q;ENSP00000262074:R187Q;ENSP00000377692:R187Q;ENSP00000377688:R187Q;ENSP00000457901:R187Q	ENSP00000262074:R187Q	R	-	2	0	TTC23	97576337	0.001000	0.12720	0.011000	0.14972	0.346000	0.29079	0.073000	0.14640	-0.028000	0.13850	-0.136000	0.14681	CGG		PASS	0.408	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		4	175	4	175	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15814831	15814831	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:15814831C>A	ENST00000300036.5	-	33	4765	c.4656G>T	c.(4654-4656)gaG>gaT	p.E1552D	NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1559D|MYH11_ENST00000576790.2_Missense_Mutation_p.E1552D|MYH11_ENST00000396324.3_Missense_Mutation_p.E1559D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1552					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.E1552D(1)|p.E1559D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCAGCTCGTCCTCCAGCTCTT	0.642			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4654-4656)GAG>GAT		smooth muscle myosin heavy chain 11 isoform							99.0	92.0	94.0					16																	15814831		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814831C>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4656G>T	16.37:g.15814831C>A	ENSP00000300036:p.Glu1552Asp					MYH11_uc002ddv.2_Missense_Mutation_p.E1559D|MYH11_uc002ddw.2_Missense_Mutation_p.E1552D|MYH11_uc002ddx.2_Missense_Mutation_p.E1559D|MYH11_uc010bvg.2_Missense_Mutation_p.E1384D|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E258D|NDE1_uc002ddz.1_5'Flank	p.E1552D	NM_002474	NP_002465	P35749	MYH11_HUMAN			33	4763	-			1552			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4656G>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626810	0.66901	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	4.97	3.03	0.35002	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94076	0.8101	M	0.88979	2.995	0.80722	D	1	P;B;B;B;P	0.46784	0.769;0.225;0.225;0.225;0.884	P;B;B;B;P	0.55011	0.572;0.364;0.364;0.364;0.766	D	0.93277	0.6657	10	0.72032	D	0.01	.	10.1408	0.42734	0.0:0.8385:0.0:0.1615	.	1559;1552;1559;1552;1559	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	1552;1552;1559;1559;1559	ENSP00000300036:E1552D;ENSP00000345136:E1552D;ENSP00000379616:E1559D;ENSP00000407821:E1559D	ENSP00000300036:E1552D	E	-	3	2	MYH11	15722332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.214000	0.42853	0.517000	0.28361	0.561000	0.74099	GAG		PASS	0.642	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		10	109	10	109	---	---	---	---
GDE1	51573	broad.mit.edu	37	16	19516332	19516332	+	Missense_Mutation	SNP	C	C	T	rs571341439		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:19516332C>T	ENST00000353258.3	-	5	899	c.719G>A	c.(718-720)cGc>cAc	p.R240H	CTA-363E6.7_ENST00000569345.1_RNA	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	240	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)	p.R240H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGTATCATAGCGTGGTTTCCC	0.408																																						uc002dgh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(718-720)CGC>CAC		glycerophosphodiester phosphodiesterase 1							197.0	189.0	192.0					16																	19516332		2197	4300	6497	SO:0001583	missense	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19516332C>T		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.719G>A	16.37:g.19516332C>T	ENSP00000261386:p.Arg240His					GDE1_uc002dgi.2_Missense_Mutation_p.R130H	p.R240H	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN			5	883	-			240			Lumenal (Potential).|GDPD.		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	c.719G>A	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273809	0.95459	.	.	ENSG00000006007	ENST00000353258	T	0.11385	2.78	5.66	5.66	0.87406	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.21348	-1.0248	10	0.62326	D	0.03	-21.2336	19.7376	0.96214	0.0:1.0:0.0:0.0	.	240	Q9NZC3	GDE1_HUMAN	H	240	ENSP00000261386:R240H	ENSP00000261386:R240H	R	-	2	0	GDE1	19423833	1.000000	0.71417	0.957000	0.39632	0.878000	0.50629	7.437000	0.80417	2.673000	0.90976	0.655000	0.94253	CGC		PASS	0.408	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		6	223	6	223	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24980023	24980023	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:24980023C>T	ENST00000289968.6	-	5	412	c.343G>A	c.(343-345)Gtt>Att	p.V115I	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.V115I|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.V115I|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	115	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.V115I(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TCCTTCTCAACAAAGACTTCG	0.552																																						uc002dnb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(343-345)GTT>ATT		nadrin isoform 1							127.0	108.0	114.0					16																	24980023		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24980023C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.343G>A	16.37:g.24980023C>T	ENSP00000289968:p.Val115Ile					ARHGAP17_uc002dnc.2_Missense_Mutation_p.V115I|ARHGAP17_uc010vcf.1_5'UTR|ARHGAP17_uc002dnf.2_Missense_Mutation_p.V23I|ARHGAP17_uc002dng.1_Missense_Mutation_p.V115I	p.V115I	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	5	436	-			115			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.343G>A	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004099	0.35320	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.65916	-0.18;-0.18;-0.18	5.85	0.673	0.17941	BAR (3);	0.581536	0.14178	N	0.336226	T	0.42494	0.1205	N	0.16233	0.39	0.09310	N	1	B;B;B;B	0.18610	0.012;0.015;0.001;0.029	B;B;B;B	0.24701	0.006;0.03;0.003;0.055	T	0.27872	-1.0061	10	0.26408	T	0.33	.	8.7536	0.34633	0.0:0.5457:0.0:0.4543	.	115;115;115;115	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	I	115	ENSP00000289968:V115I;ENSP00000303130:V115I;ENSP00000406950:V115I	ENSP00000289968:V115I	V	-	1	0	ARHGAP17	24887524	0.303000	0.24463	0.017000	0.16124	0.825000	0.46686	0.515000	0.22801	-0.008000	0.14320	0.643000	0.83706	GTT		PASS	0.552	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		12	189	12	189	---	---	---	---
KCTD13	253980	broad.mit.edu	37	16	29922394	29922394	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:29922394C>T	ENST00000568000.1	-	5	1659	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	220					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)	p.E220K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CAGCAGATCTCGTCCCCCAGG	0.562																																						uc002duv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)GAG>AAG		potassium channel tetramerisation domain							85.0	71.0	76.0					16																	29922394		2197	4300	6497	SO:0001583	missense	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29922394C>T	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.658G>A	16.37:g.29922394C>T	ENSP00000455785:p.Glu220Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	p.E220K	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN			5	849	-			220					A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	ENST00000568000.1	37	c.658G>A	CCDS10661.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790381	0.90367	.	.	ENSG00000174943	ENST00000308768	T	0.57595	0.39	5.43	5.43	0.79202	.	0.299003	0.29185	N	0.012889	T	0.58850	0.2151	M	0.78456	2.415	0.80722	D	1	D	0.55800	0.973	B	0.42653	0.394	T	0.67628	-0.5622	10	0.66056	D	0.02	-12.0901	18.2331	0.89941	0.0:1.0:0.0:0.0	.	220	Q8WZ19	BACD1_HUMAN	K	220	ENSP00000311202:E220K	ENSP00000311202:E220K	E	-	1	0	KCTD13	29829895	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	5.930000	0.70104	2.835000	0.97688	0.650000	0.86243	GAG		PASS	0.562	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863		10	79	10	79	---	---	---	---
FTO	79068	broad.mit.edu	37	16	53844090	53844090	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:53844090C>T	ENST00000471389.1	+	2	306	c.84C>T	c.(82-84)ctC>ctT	p.L28L	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	28					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.L28L(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACACTTGGCTCCCTTATCTGA	0.343																																						uc002ehr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(82-84)CTC>CTT		fat mass and obesity associated							82.0	88.0	86.0					16																	53844090		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53844090C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.84C>T	16.37:g.53844090C>T						FTO_uc010vha.1_5'UTR	p.L28L	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			2	306	+			28					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.84C>T	CCDS32448.1																																																																																				PASS	0.343	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		8	81	8	81	---	---	---	---
PSKH1	5681	broad.mit.edu	37	16	67943531	67943531	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:67943531C>T	ENST00000291041.5	+	2	1049	c.879C>T	c.(877-879)ggC>ggT	p.G293G		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G293G(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TACTCAGTGGCACCATGCCGT	0.587																																						uc002euv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(877-879)GGC>GGT		protein serine kinase H1							97.0	80.0	86.0					16																	67943531		2198	4300	6498	SO:0001819	synonymous_variant	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67943531C>T	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.879C>T	16.37:g.67943531C>T						PSKH1_uc010cet.2_Silent_p.G293G	p.G293G	NM_006742	NP_006733	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	1049	+		Ovarian(137;0.192)	293			Protein kinase.		Q9NY19	Silent	SNP	ENST00000291041.5	37	c.879C>T	CCDS10851.1																																																																																				PASS	0.587	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		5	74	5	74	---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86601394	86601394	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:86601394C>A	ENST00000320354.4	+	1	538	c.453C>A	c.(451-453)gaC>gaA	p.D151E	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	151					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D151E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TGGACCCGGACTCCTACAACA	0.622									Late-onset Hereditary Lymphedema																													uc002fjq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GAC>GAA		forkhead box C2							53.0	64.0	60.0					16																	86601394		2198	4300	6498	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601394C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.453C>A	16.37:g.86601394C>A	ENSP00000326371:p.Asp151Glu						p.D151E	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	538	+			151			Fork-head.		C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.453C>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807064	0.70797	.	.	ENSG00000176692	ENST00000320354	D	0.94966	-3.57	4.54	4.54	0.55810	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.56097	U	0.000021	D	0.91009	0.7172	N	0.16016	0.355	0.58432	D	0.999994	P	0.37207	0.587	P	0.44422	0.449	D	0.91632	0.5319	10	0.48119	T	0.1	.	15.9261	0.79618	0.0:1.0:0.0:0.0	.	151	Q99958	FOXC2_HUMAN	E	151	ENSP00000326371:D151E	ENSP00000326371:D151E	D	+	3	2	FOXC2	85158895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.163000	0.31798	2.075000	0.62263	0.558000	0.71614	GAC		PASS	0.622	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		10	99	10	99	---	---	---	---
KIF1C	10749	broad.mit.edu	37	17	4908161	4908161	+	Missense_Mutation	SNP	G	G	A	rs539953623		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:4908161G>A	ENST00000320785.5	+	13	1388	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	344	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.R344H(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TATGCTGACCGCACCAAGCAA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20809	0.0		0.0	False		,,,				2504	0.0				Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1030-1032)CGC>CAC		kinesin family member 1C							76.0	79.0	78.0					17																	4908161		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4908161G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1031G>A	17.37:g.4908161G>A	ENSP00000320821:p.Arg344His						p.R344H	NM_006612	NP_006603	O43896	KIF1C_HUMAN			13	1357	+			344					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.1031G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612331	0.87258	.	.	ENSG00000129250	ENST00000320785	D	0.90620	-2.7	4.73	4.73	0.59995	Kinesin, motor domain (3);	.	.	.	.	D	0.96886	0.8983	H	0.97103	3.94	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.97909	1.0307	9	0.87932	D	0	.	15.6111	0.76716	0.0:0.0:1.0:0.0	.	344	O43896	KIF1C_HUMAN	H	344	ENSP00000320821:R344H	ENSP00000320821:R344H	R	+	2	0	KIF1C	4848885	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	9.611000	0.98342	2.623000	0.88846	0.591000	0.81541	CGC		PASS	0.612	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			5	129	5	129	---	---	---	---
TEKT1	83659	broad.mit.edu	37	17	6704111	6704111	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:6704111T>C	ENST00000338694.2	-	7	1133	c.1004A>G	c.(1003-1005)tAt>tGt	p.Y335C	TEKT1_ENST00000535086.1_Missense_Mutation_p.Y189C	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	335						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.Y335C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CATTAGCCTATATTGTGCGAC	0.567											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gdt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1003-1005)TAT>TGT		tektin 1							224.0	200.0	208.0					17																	6704111		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704111T>C		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1004A>G	17.37:g.6704111T>C	ENSP00000341346:p.Tyr335Cys		OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_uc010vth.1_Missense_Mutation_p.Y189C	p.Y335C	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			7	1114	-		Myeloproliferative disorder(207;0.0255)	335			Potential.		D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.1004A>G	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	T	9.387	1.074533	0.20227	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02837	4.14;4.14	5.85	3.5	0.40072	.	0.533446	0.21639	N	0.071373	T	0.06690	0.0171	M	0.87682	2.9	0.39733	D	0.971633	B	0.21309	0.054	B	0.27608	0.081	T	0.02728	-1.1118	10	0.44086	T	0.13	.	7.1863	0.25801	0.0:0.0777:0.1465:0.7758	.	335	Q969V4	TEKT1_HUMAN	C	335;189	ENSP00000341346:Y335C;ENSP00000444142:Y189C	ENSP00000341346:Y335C	Y	-	2	0	TEKT1	6644835	0.523000	0.26274	0.629000	0.29254	0.014000	0.08584	0.778000	0.26732	1.146000	0.42352	0.533000	0.62120	TAT		PASS	0.567	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		5	202	5	202	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8049287	8049287	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:8049287G>T	ENST00000317276.4	-	17	2444	c.2207C>A	c.(2206-2208)cCc>cAc	p.P736H	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.P716H|PER1_ENST00000354903.5_Missense_Mutation_p.P720H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	736	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.P736H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGACTCCGGGGGCTTCTTGTC	0.637			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(2206-2208)CCC>CAC	Other_conserved_DNA_damage_response_genes	period 1							64.0	66.0	66.0					17																	8049287		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049287G>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2207C>A	17.37:g.8049287G>T	ENSP00000314420:p.Pro736His					PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.P720H	p.P736H	NM_002616	NP_002607	O15534	PER1_HUMAN			17	2445	-			736			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2207C>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093194	0.76756	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.39592	2.41;1.07	5.43	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.61036	1.89	0.50313	D	0.999861	D;D	0.89917	0.988;1.0	P;D	0.83275	0.746;0.996	T	0.63143	-0.6703	10	0.72032	D	0.01	-24.7723	12.1955	0.54294	0.0833:0.0:0.9167:0.0	.	720;736	B4DI49;O15534	.;PER1_HUMAN	H	736;720	ENSP00000314420:P736H;ENSP00000346979:P720H	ENSP00000314420:P736H	P	-	2	0	PER1	7990012	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.622000	0.54217	1.317000	0.45149	-0.244000	0.11960	CCC		PASS	0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			13	108	13	108	---	---	---	---
ARHGAP44	9912	broad.mit.edu	37	17	12883479	12883479	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:12883479G>C	ENST00000379672.5	+	19	2168	c.1868G>C	c.(1867-1869)gGa>gCa	p.G623A	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G623A|ARHGAP44_ENST00000578087.1_3'UTR|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G617A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	623					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.G623A(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCTCAACCTGGAGCTCAGCCG	0.627																																						uc002gnr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1867-1869)GGA>GCA		Rho GTPase-activating protein RICH2							25.0	31.0	29.0					17																	12883479		1906	4124	6030	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12883479G>C		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1868G>C	17.37:g.12883479G>C	ENSP00000368994:p.Gly623Ala					RICH2_uc010vvk.1_Missense_Mutation_p.G623A|RICH2_uc010vvl.1_Missense_Mutation_p.G617A|RICH2_uc002gns.3_Missense_Mutation_p.G417A|RICH2_uc010vvm.1_Missense_Mutation_p.G617A|RICH2_uc010vvn.1_Intron	p.G623A	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			19	2195	+			623					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.1868G>C	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120153	0.01785	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T;T	0.60548	2.34;2.32;0.18	0.149	0.149	0.14863	.	1.144020	0.06533	N	0.741844	T	0.47710	0.1460	N	0.08118	0	0.09310	N	1	B;D;B;B	0.56968	0.03;0.978;0.0;0.03	B;D;B;B	0.65874	0.005;0.939;0.002;0.005	T	0.43956	-0.9359	9	0.02654	T	1	.	.	.	.	.	617;81;279;623	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	A	623;279;617;81	ENSP00000368994:G623A;ENSP00000342566:G617A;ENSP00000262444:G81A	ENSP00000262444:G81A	G	+	2	0	ARHGAP44	12824204	0.034000	0.19679	0.003000	0.11579	0.020000	0.10135	0.966000	0.29331	0.192000	0.20272	0.195000	0.17529	GGA		PASS	0.627	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		9	30	9	30	---	---	---	---
TTC19	54902	broad.mit.edu	37	17	15907564	15907564	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:15907564C>G	ENST00000261647.5	+	6	1038	c.569C>G	c.(568-570)gCt>gGt	p.A190G	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Missense_Mutation_p.A311G	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	190					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.A311G(1)		central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATCTATGCTGCGCAGAAC	0.418																																						uc002gph.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(931-933)GCT>GGT		tetratricopeptide repeat domain 19							111.0	116.0	114.0					17																	15907564		2203	4300	6503	SO:0001583	missense	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15907564C>G	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.569C>G	17.37:g.15907564C>G	ENSP00000261647:p.Ala190Gly					TTC19_uc010cox.1_RNA	p.A311G	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	950	+			190			TPR 2.		A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	ENST00000261647.5	37	c.932C>G	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674054	0.88445	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	T	0.76709	-1.04	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	L	0.60455	1.87	0.48696	D	0.999695	.	.	.	.	.	.	T	0.80926	-0.1164	8	0.39692	T	0.17	-9.5398	15.6578	0.77155	0.0:1.0:0.0:0.0	.	.	.	.	G	190;311;190	ENSP00000261647:A190G	ENSP00000261647:A311G	A	+	2	0	TTC19	15848289	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.119000	0.64679	2.767000	0.95098	0.655000	0.94253	GCT		PASS	0.418	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		11	128	11	128	---	---	---	---
NLK	51701	broad.mit.edu	37	17	26518101	26518101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:26518101C>T	ENST00000407008.3	+	9	2009	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	431	Required for homodimerization and kinase activation and localization to the nucleus. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R431*(1)|p.R419*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423																																						uc010crj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1291-1293)CGA>TGA		nemo like kinase							188.0	148.0	161.0					17																	26518101		2203	4300	6503	SO:0001587	stop_gained	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26518101C>T	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1291C>T	17.37:g.26518101C>T	ENSP00000384625:p.Arg431*					NLK_uc010cri.1_RNA	p.R431*	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	9	1503	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		431					B2RCX1|Q2PNI9|Q6P2A3	Nonsense_Mutation	SNP	ENST00000407008.3	37	c.1291C>T	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	C	37	6.288810	0.97444	.	.	ENSG00000087095	ENST00000407008	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7044	19.3813	0.94536	0.0:1.0:0.0:0.0	.	.	.	.	X	431	.	ENSP00000384625:R431X	R	+	1	2	NLK	23542228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.547000	0.67249	2.824000	0.97209	0.655000	0.94253	CGA		PASS	0.423	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		9	122	9	122	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27066122	27066122	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:27066122G>A	ENST00000268766.6	+	10	1354	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	440					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L451L(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGGAGGCTTTGCTGGGCTATG	0.587																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1318-1320)TTG>TTA		NIMA-related kinase 8							98.0	92.0	94.0					17																	27066122		2203	4300	6503	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27066122G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1320G>A	17.37:g.27066122G>A							p.L440L	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			10	1320	+	Lung NSC(42;0.0158)		440			RCC1 2.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.1320G>A	CCDS32597.1																																																																																				PASS	0.587	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			7	147	7	147	---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39017927	39017927	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:39017927C>G	ENST00000251643.4	-	8	1494	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	491	Tail.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E491Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ATTAGTTCTTCAATTTCCTGA	0.373																																						uc002hvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1471-1473)GAA>CAA		keratin 12							126.0	125.0	125.0					17																	39017927		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39017927C>G		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1471G>C	17.37:g.39017927C>G	ENSP00000251643:p.Glu491Gln						p.E491Q	NM_000223	NP_000214	Q99456	K1C12_HUMAN			8	1495	-		Breast(137;0.000301)	491			Tail.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.1471G>C	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602973	0.46423	.	.	ENSG00000187242	ENST00000251643	D	0.82711	-1.64	5.41	3.35	0.38373	.	0.143577	0.31936	N	0.006839	T	0.69360	0.3102	N	0.12746	0.255	0.32010	N	0.602184	B	0.30851	0.297	B	0.23852	0.049	T	0.71155	-0.4675	10	0.66056	D	0.02	.	15.8286	0.78733	0.0:0.7432:0.2568:0.0	.	491	Q99456	K1C12_HUMAN	Q	491	ENSP00000251643:E491Q	ENSP00000251643:E491Q	E	-	1	0	KRT12	36271453	0.847000	0.29606	0.906000	0.35671	0.975000	0.68041	1.357000	0.34090	0.599000	0.29845	0.655000	0.94253	GAA		PASS	0.373	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		10	121	10	121	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40837258	40837258	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:40837258G>A	ENST00000264638.4	+	5	752	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	179					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.G179S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTATTTCGACGGCGACGATGC	0.627																																						uc002iay.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(535-537)GGC>AGC		contactin associated protein 1 precursor							87.0	81.0	83.0					17																	40837258		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837258G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.535G>A	17.37:g.40837258G>A	ENSP00000264638:p.Gly179Ser					CNTNAP1_uc010wgs.1_RNA	p.G179S	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	5	751	+		Breast(137;0.000143)	179			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264638.4	37	c.535G>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684076	0.96774	.	.	ENSG00000108797	ENST00000264638	D	0.81908	-1.55	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.082436	0.51477	D	0.000095	D	0.90800	0.7111	M	0.76727	2.345	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.91616	0.5307	10	0.66056	D	0.02	.	17.0354	0.86473	0.0:0.0:1.0:0.0	.	179	P78357	CNTP1_HUMAN	S	179	ENSP00000264638:G179S	ENSP00000264638:G179S	G	+	1	0	CNTNAP1	38090784	1.000000	0.71417	0.982000	0.44146	0.896000	0.52359	9.089000	0.94137	2.436000	0.82500	0.561000	0.74099	GGC		PASS	0.627	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		4	127	4	127	---	---	---	---
DHX8	1659	broad.mit.edu	37	17	41570888	41570888	+	Silent	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:41570888G>C	ENST00000262415.3	+	7	1011	c.939G>C	c.(937-939)gtG>gtC	p.V313V	DHX8_ENST00000540306.1_Silent_p.V313V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	313	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.V313V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTGATGTCGTGAGCAAAGGCC	0.572																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|pancreas(1)	4						c.(937-939)GTG>GTC		DEAH (Asp-Glu-Ala-His) box polypeptide 8							174.0	150.0	158.0					17																	41570888		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41570888G>C	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.939G>C	17.37:g.41570888G>C						DHX8_uc010wif.1_Silent_p.V222V|DHX8_uc010wig.1_Silent_p.V313V	p.V313V	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	7	1012	+		Breast(137;0.00908)	313			S1 motif.			Silent	SNP	ENST00000262415.3	37	c.939G>C	CCDS11464.1																																																																																				PASS	0.572	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			11	137	11	137	---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46863659	46863659	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:46863659T>G	ENST00000393382.3	-	12	1769	c.1628A>C	c.(1627-1629)aAg>aCg	p.K543T	TTLL6_ENST00000433608.2_Missense_Mutation_p.K236T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6									p.K495T(1)|p.K221T(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTGGAAGGGCTTTTTCTCCCG	0.522																																						uc010wlo.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1627-1629)AAG>ACG		tubulin tyrosine ligase-like family, member 6							336.0	322.0	327.0					17																	46863659		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46863659T>G	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1628A>C	17.37:g.46863659T>G	ENSP00000377043:p.Lys543Thr					TTLL6_uc002iob.2_Missense_Mutation_p.K236T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.K296T|TTLL6_uc002iod.2_Missense_Mutation_p.K390T	p.K543T	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			13	1663	-			495						Missense_Mutation	SNP	ENST00000393382.3	37	c.1628A>C	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688175	0.68271	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	2.14	0.27477	.	12.496000	0.00166	N	0.000000	T	0.60444	0.2269	M	0.69823	2.125	0.09310	N	1	D;P;D	0.69078	0.997;0.944;0.96	D;P;P	0.63033	0.91;0.563;0.59	T	0.08576	-1.0715	9	0.51188	T	0.08	.	4.455	0.11639	0.3028:0.0822:0.0:0.615	.	495;296;236	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	543;236;221;495	.	ENSP00000302547:K236T	K	-	2	0	TTLL6	44218658	0.114000	0.22134	0.002000	0.10522	0.237000	0.25408	1.441000	0.35035	0.129000	0.18514	0.459000	0.35465	AAG		PASS	0.522	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		10	462	10	462	---	---	---	---
PHB	5245	broad.mit.edu	37	17	47482457	47482457	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:47482457C>T	ENST00000300408.3	-	7	788	c.716G>A	c.(715-717)cGc>cAc	p.R239H	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'Flank|RP11-1079K10.4_ENST00000506504.3_RNA	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	239					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)	p.R239H(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TTCCAGCTTGCGCAGCTCGAT	0.622																																						uc002iox.1																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)CGC>CAC		prohibitin							36.0	28.0	31.0					17																	47482457		2203	4300	6503	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47482457C>T		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.716G>A	17.37:g.47482457C>T	ENSP00000300408:p.Arg239His						p.R239H	NM_002634	NP_002625	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		7	789	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		239					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.716G>A	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909322	0.72868	.	.	ENSG00000167085	ENST00000300408;ENST00000419140	.	.	.	5.56	5.56	0.83823	.	0.050762	0.85682	D	0.000000	T	0.72898	0.3518	M	0.84219	2.685	0.80722	D	1	B	0.17465	0.022	B	0.19666	0.026	T	0.72080	-0.4398	9	0.87932	D	0	.	19.1209	0.93364	0.0:1.0:0.0:0.0	.	239	P35232	PHB_HUMAN	H	239	.	ENSP00000300408:R239H	R	-	2	0	PHB	44837456	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.790000	0.85794	2.603000	0.88011	0.655000	0.94253	CGC		PASS	0.622	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		3	18	3	18	---	---	---	---
EME1	146956	broad.mit.edu	37	17	48458295	48458295	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:48458295G>C	ENST00000338165.4	+	9	1790	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H	EME1_ENST00000393271.2_Missense_Mutation_p.D583H|EME1_ENST00000511648.2_Missense_Mutation_p.D583H	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	570					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.D570H(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGATAGTGCTGACTGATTCTA	0.502								Direct reversal of damage;Homologous recombination																														uc002iqs.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1708-1710)GAC>CAC	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							94.0	77.0	83.0					17																	48458295		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48458295G>C	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1708G>C	17.37:g.48458295G>C	ENSP00000339897:p.Asp570His					EME1_uc010dbp.1_Missense_Mutation_p.D583H|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	p.D570H	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		9	1781	+	Breast(11;5.62e-19)		570					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.1708G>C	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909325	0.52439	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.15834	2.4;2.39;2.39	6.16	6.16	0.99307	.	0.196582	0.36167	N	0.002757	T	0.34948	0.0915	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.63192	0.912;0.819	T	0.00569	-1.1666	10	0.87932	D	0	-5.0994	19.0403	0.92995	0.0:0.0:1.0:0.0	.	583;570	Q96AY2-2;Q96AY2	.;EME1_HUMAN	H	570;583;583	ENSP00000339897:D570H;ENSP00000376952:D583H;ENSP00000421700:D583H	ENSP00000339897:D570H	D	+	1	0	EME1	45813294	0.999000	0.42202	0.983000	0.44433	0.042000	0.13812	3.569000	0.53827	2.937000	0.99478	0.650000	0.86243	GAC		PASS	0.502	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		4	77	4	77	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917580	48917580	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:48917580G>T	ENST00000311378.4	+	2	1459	c.931G>T	c.(931-933)Gca>Tca	p.A311S	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A218S	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	311					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A311S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCATCAGGCTGCAGCCACCTC	0.662																																						uc002isv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(931-933)GCA>TCA		WFIKKN2 protein							50.0	44.0	46.0					17																	48917580		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917580G>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.931G>T	17.37:g.48917580G>T	ENSP00000311184:p.Ala311Ser					WFIKKN2_uc010dbu.2_Missense_Mutation_p.A218S	p.A311S	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1625	+			311					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.931G>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.441121	0.01098	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.80738	-1.41;-1.41	5.44	-4.53	0.03462	.	1.123260	0.06360	N	0.711481	T	0.54191	0.1843	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44832	-0.9302	10	0.09338	T	0.73	.	4.8453	0.13510	0.329:0.0:0.1936:0.4774	.	311	Q8TEU8	WFKN2_HUMAN	S	218;311	ENSP00000405889:A218S;ENSP00000311184:A311S	ENSP00000311184:A311S	A	+	1	0	WFIKKN2	46272579	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.291000	0.08343	-0.672000	0.05266	0.651000	0.88453	GCA		PASS	0.662	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		7	62	7	62	---	---	---	---
RNFT1	51136	broad.mit.edu	37	17	58040334	58040334	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:58040334G>A	ENST00000305783.8	-	2	423	c.368C>T	c.(367-369)gCa>gTa	p.A123V	RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_Missense_Mutation_p.A86V|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	123						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A123V(1)|p.A86V(1)		large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AGTCAGCCTTGCTTCACTGTG	0.483																																						uc002iya.2																			2	Substitution - Missense(2)		lung(2)		0						c.(367-369)GCA>GTA		PTD016 protein							123.0	96.0	105.0					17																	58040334		2203	4300	6503	SO:0001583	missense	51136					integral to membrane	zinc ion binding	g.chr17:58040334G>A	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.368C>T	17.37:g.58040334G>A	ENSP00000304670:p.Ala123Val					uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.A123V|RNFT1_uc002iyd.3_Missense_Mutation_p.A123V	p.A123V	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	461	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		123					Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	ENST00000305783.8	37	c.368C>T	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259064	0.80246	.	.	ENSG00000189050	ENST00000305783;ENST00000442346	T	0.46451	0.87	5.54	4.56	0.56223	.	0.417482	0.27088	N	0.020983	T	0.48169	0.1485	M	0.62723	1.935	0.38737	D	0.953801	P;D;B	0.56746	0.873;0.977;0.386	P;P;B	0.48030	0.523;0.564;0.052	T	0.52298	-0.8594	10	0.30078	T	0.28	-5.9771	16.3115	0.82873	0.0:0.1326:0.8674:0.0	.	123;123;123	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	V	123;86	ENSP00000304670:A123V	ENSP00000304670:A123V	A	-	2	0	RNFT1	55395116	0.964000	0.33143	1.000000	0.80357	0.946000	0.59487	1.517000	0.35867	1.292000	0.44672	-0.282000	0.10007	GCA		PASS	0.483	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		5	122	5	122	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63554607	63554607	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:63554607C>T	ENST00000375702.5	-	1	240	c.132G>A	c.(130-132)caG>caA	p.Q44Q	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Silent_p.Q44Q			Q9Y2T1	AXIN2_HUMAN	axin 2	44				QPGVGKGQVTKPMSVSSNTRRNEDGL -> HHGGQGPGHQT HVCLFQHQAERRWV (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.Q44Q(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTTTGGTGACCTGGCCCTTGC	0.682									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(130-132)CAG>CAA		axin 2							51.0	53.0	52.0					17																	63554607		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554607C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.132G>A	17.37:g.63554607C>T						AXIN2_uc010den.1_Silent_p.Q44Q|AXIN2_uc002jfh.2_Silent_p.Q44Q|AXIN2_uc002jfj.1_Silent_p.Q44Q	p.Q44Q	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			2	421	-			44	QPGVGKGQVTKPMSVSSNTRRNEDGL -> HHGGQGPGHQT HVCLFQHQAERRWV (in Ref. 2; AAF22799).				Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.132G>A																																																																																					PASS	0.682	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		5	100	5	100	---	---	---	---
PRPSAP1	5635	broad.mit.edu	37	17	74308994	74308994	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr17:74308994G>C	ENST00000446526.3	-	9	1401	c.956C>G	c.(955-957)tCt>tGt	p.S319C	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.S216C|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	290					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.S290C(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGCCTCTGCAGACAGGATGCC	0.502																																						uc010wta.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(955-957)TCT>TGT		phosphoribosyl pyrophosphate							80.0	83.0	82.0					17																	74308994		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74308994G>C	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.956C>G	17.37:g.74308994G>C	ENSP00000414624:p.Ser319Cys					PRPSAP1_uc010wtb.1_Missense_Mutation_p.S216C	p.S319C	NM_002766	NP_002757	Q14558	KPRA_HUMAN			9	1402	-			290					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.956C>G	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987598	0.93106	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.76968	-1.06;-1.06;-1.06	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93430	0.6784	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	290;319	Q14558;Q14558-2	KPRA_HUMAN;.	C	319;216;216	ENSP00000414624:S319C;ENSP00000314973:S216C;ENSP00000392838:S216C	ENSP00000314973:S216C	S	-	2	0	PRPSAP1	71820589	1.000000	0.71417	0.968000	0.41197	0.800000	0.45204	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	TCT		PASS	0.502	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		15	108	15	108	---	---	---	---
TXNDC2	84203	broad.mit.edu	37	18	9886977	9886977	+	Silent	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr18:9886977C>A	ENST00000306084.6	+	2	700	c.501C>A	c.(499-501)gcC>gcA	p.A167A	TXNDC2_ENST00000536353.2_Silent_p.A100A|TXNDC2_ENST00000357775.5_Silent_p.A100A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	167	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.A167A(1)|p.A100A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCCCAAGGCCTCAGTGAAGC	0.552																																						uc002koi.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(499-501)GCC>GCA		thioredoxin domain-containing 2 isoform 2							124.0	131.0	129.0					18																	9886977		2203	4300	6503	SO:0001819	synonymous_variant	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886977C>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.501C>A	18.37:g.9886977C>A						TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Silent_p.A100A	p.A167A	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	950	+			167			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|4.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.501C>A	CCDS42414.1																																																																																				PASS	0.552	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			7	229	7	229	---	---	---	---
CABLES1	91768	broad.mit.edu	37	18	20768804	20768804	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr18:20768804G>A	ENST00000256925.7	+	2	848	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	CABLES1_ENST00000420687.2_Missense_Mutation_p.R18Q|CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000585061.1_3'UTR	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	283	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.R283Q(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCTGCAGACGGCGCCTCATC	0.408																																						uc002kuc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(847-849)CGG>CAG		Cdk5 and Abl enzyme substrate 1 isoform 2							63.0	60.0	61.0					18																	20768804		1813	4074	5887	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20768804G>A	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.848G>A	18.37:g.20768804G>A	ENSP00000256925:p.Arg283Gln					CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Missense_Mutation_p.R18Q	p.R283Q	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			2	848	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		283			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.848G>A	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597504	0.96602	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.55588	0.51;0.61	5.61	5.61	0.85477	.	0.054736	0.85682	D	0.000000	T	0.69287	0.3094	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.964;0.992	T	0.68716	-0.5335	10	0.54805	T	0.06	-19.1622	19.7126	0.96102	0.0:0.0:1.0:0.0	.	18;283	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	Q	283;18	ENSP00000256925:R283Q;ENSP00000413851:R18Q	ENSP00000256925:R283Q	R	+	2	0	CABLES1	19022802	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.290000	0.96065	2.664000	0.90586	0.650000	0.86243	CGG		PASS	0.408	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		4	61	4	61	---	---	---	---
RNF152	220441	broad.mit.edu	37	18	59483590	59483590	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr18:59483590G>A	ENST00000312828.3	-	2	1206	c.107C>T	c.(106-108)tCa>tTa	p.S36L		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	36					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S36L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CAGGCACACTGAACAGCAGGT	0.612																																						uc002lih.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(106-108)TCA>TTA		ring finger protein 152							51.0	52.0	52.0					18																	59483590		2203	4300	6503	SO:0001583	missense	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483590G>A	AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.107C>T	18.37:g.59483590G>A	ENSP00000316628:p.Ser36Leu						p.S36L	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN			2	519	-		Colorectal(73;0.186)	36			RING-type.		B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	c.107C>T	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286191	0.80803	.	.	ENSG00000176641	ENST00000312828	D	0.92911	-3.13	4.97	4.97	0.65823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.90940	0.7152	N	0.10733	0.035	0.80722	D	1	D	0.56287	0.975	D	0.76071	0.987	D	0.89396	0.3692	10	0.20519	T	0.43	-3.831	18.4187	0.90579	0.0:0.0:1.0:0.0	.	36	Q8N8N0	RN152_HUMAN	L	36	ENSP00000316628:S36L	ENSP00000316628:S36L	S	-	2	0	RNF152	57634570	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	8.831000	0.92068	2.600000	0.87896	0.655000	0.94253	TCA		PASS	0.612	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		13	106	13	106	---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74962959	74962959	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr18:74962959C>T	ENST00000299727.3	+	1	455	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	152					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.A152V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TCCCGCAACGCGCTGCTGGGC	0.692																																						uc002lms.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(454-456)GCG>GTG		galanin receptor 1							51.0	45.0	47.0					18																	74962959		2202	4299	6501	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962959C>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.455C>T	18.37:g.74962959C>T	ENSP00000299727:p.Ala152Val						p.A152V	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	952	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	152			Helical; Name=4; (Potential).		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.455C>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147416	0.94603	.	.	ENSG00000166573	ENST00000299727	T	0.40225	1.04	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.67205	-0.5729	10	0.87932	D	0	.	16.7748	0.85548	0.0:1.0:0.0:0.0	.	152	P47211	GALR1_HUMAN	V	152	ENSP00000299727:A152V	ENSP00000299727:A152V	A	+	2	0	GALR1	73091947	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.441000	0.80485	2.044000	0.60594	0.591000	0.81541	GCG		PASS	0.692	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			8	70	8	70	---	---	---	---
POLR2E	5434	broad.mit.edu	37	19	1090909	1090909	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:1090909C>T	ENST00000215587.7	-	4	710	c.427G>A	c.(427-429)Gag>Aag	p.E143K	POLR2E_ENST00000586746.1_Missense_Mutation_p.E143K|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	143					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E143K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCCACCTCGTGCTCCGTG	0.647																																						uc002lre.3																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GAG>AAG		DNA directed RNA polymerase II polypeptide E							49.0	47.0	48.0					19																	1090909		2203	4299	6502	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1090909C>T		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.427G>A	19.37:g.1090909C>T	ENSP00000215587:p.Glu143Lys					POLR2E_uc010xgf.1_RNA	p.E143K	NM_002695	NP_002686	P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	504	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	143					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.427G>A	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892460	0.52121	.	.	ENSG00000099817	ENST00000215587	T	0.51574	0.7	3.47	3.47	0.39725	RNA polymerase, subunit H/Rpb5 C-terminal (4);RNA polymerase, subunit H/Rpb5, conserved site (1);	0.055023	0.64402	D	0.000001	T	0.51278	0.1665	M	0.78223	2.4	0.80722	D	1	B	0.29671	0.254	B	0.32677	0.15	T	0.59198	-0.7499	10	0.48119	T	0.1	0.0011	14.4804	0.67579	0.0:1.0:0.0:0.0	.	143	P19388	RPAB1_HUMAN	K	143	ENSP00000215587:E143K	ENSP00000215587:E143K	E	-	1	0	POLR2E	1041909	1.000000	0.71417	0.933000	0.37362	0.615000	0.37417	7.321000	0.79088	1.912000	0.55364	0.491000	0.48974	GAG		PASS	0.647	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		6	52	6	52	---	---	---	---
AES	166	broad.mit.edu	37	19	3061229	3061229	+	Silent	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:3061229G>C	ENST00000327141.4	-	2	410	c.54C>G	c.(52-54)ctC>ctG	p.L18L	AES_ENST00000586839.1_5'UTR|AES_ENST00000592330.1_5'UTR|AES_ENST00000221561.8_Silent_p.L85L	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	18	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.L85L(1)		lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGAATTTGAGTTGCTGGG	0.652																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)CTC>CTG		amino-terminal enhancer of split isoform b							153.0	150.0	151.0					19																	3061229		2203	4300	6503	SO:0001819	synonymous_variant	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3061229G>C	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.54C>G	19.37:g.3061229G>C						AES_uc002lwz.1_Silent_p.L18L|AES_uc002lxa.1_5'UTR|AES_uc002lxb.1_Silent_p.L85L|AES_uc002lxc.2_Silent_p.L85L	p.L18L	NM_001130	NP_001121	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	227	-		Hepatocellular(1079;0.137)	18			Gln-rich (Q domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37	c.54C>G	CCDS12102.1																																																																																				PASS	0.652	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		17	205	17	205	---	---	---	---
LONP1	9361	broad.mit.edu	37	19	5711826	5711826	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:5711826C>G	ENST00000360614.3	-	4	983	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	LONP1_ENST00000590729.1_Intron|LONP1_ENST00000540670.2_Missense_Mutation_p.E80Q|LONP1_ENST00000585374.1_Missense_Mutation_p.E162Q|LONP1_ENST00000593119.1_Missense_Mutation_p.E212Q	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial									p.E276Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAACGTTCTCTACCTCCACC	0.672																																						uc002mcx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)GAG>CAG		mitochondrial lon peptidase 1 precursor							87.0	79.0	82.0					19																	5711826		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5711826C>G	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.826G>C	19.37:g.5711826C>G	ENSP00000353826:p.Glu276Gln					LONP1_uc002mcy.2_Missense_Mutation_p.E212Q|LONP1_uc010duh.2_Missense_Mutation_p.E17Q|LONP1_uc010dui.2_Intron|LONP1_uc002mcz.2_Missense_Mutation_p.E80Q	p.E276Q	NM_004793	NP_004784	P36776	LONM_HUMAN			4	859	-			276			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.826G>C	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226860	0.58668	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.49720	0.77;0.77	4.87	4.87	0.63330	Peptidase S16, lon N-terminal (2);	0.180516	0.47455	D	0.000234	T	0.70351	0.3214	M	0.84585	2.705	0.80722	D	1	D;D	0.53885	0.963;0.963	D;P	0.64410	0.925;0.906	T	0.75775	-0.3199	10	0.62326	D	0.03	-11.101	15.5045	0.75728	0.0:1.0:0.0:0.0	.	212;276	Q8N8K8;P36776	.;LONM_HUMAN	Q	276;240;80	ENSP00000353826:E276Q;ENSP00000441523:E80Q	ENSP00000351177:E240Q	E	-	1	0	LONP1	5662826	1.000000	0.71417	0.872000	0.34217	0.269000	0.26545	5.191000	0.65110	2.249000	0.74217	0.555000	0.69702	GAG		PASS	0.672	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		9	136	9	136	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6828713	6828713	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:6828713G>C	ENST00000602142.1	+	12	1255	c.1173G>C	c.(1171-1173)gaG>gaC	p.E391D	VAV1_ENST00000596764.1_Missense_Mutation_p.E359D|VAV1_ENST00000539284.1_Missense_Mutation_p.E294D|VAV1_ENST00000599806.1_Missense_Mutation_p.E336D|VAV1_ENST00000304076.2_Missense_Mutation_p.E391D	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	391					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E391D(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGTCCATTGAGAACCTGGTGA	0.627																																						uc002mfu.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1171-1173)GAG>GAC		vav 1 guanine nucleotide exchange factor							96.0	93.0	94.0					19																	6828713		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828713G>C		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1173G>C	19.37:g.6828713G>C	ENSP00000472929:p.Glu391Asp					VAV1_uc010xjh.1_Missense_Mutation_p.E359D|VAV1_uc010dva.1_Missense_Mutation_p.E391D|VAV1_uc002mfv.1_Missense_Mutation_p.E336D	p.E391D	NM_005428	NP_005419	P15498	VAV_HUMAN			12	1270	+			391					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1173G>C	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419853	0.62622	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.89746	-2.56;-2.56	5.28	4.25	0.50352	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	M	0.82323	2.585	0.53005	D	0.999961	B;B;B;B	0.14438	0.002;0.001;0.01;0.001	B;B;B;B	0.14023	0.001;0.001;0.01;0.004	T	0.82246	-0.0552	10	0.19147	T	0.46	.	10.9298	0.47211	0.0908:0.0:0.9092:0.0	.	294;391;336;391	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	D	391;294	ENSP00000302269:E391D;ENSP00000443242:E294D	ENSP00000302269:E391D	E	+	3	2	VAV1	6779713	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.344000	0.33941	2.484000	0.83849	0.591000	0.81541	GAG		PASS	0.627	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			19	229	19	229	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065822	9065822	+	Silent	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:9065822G>T	ENST00000397910.4	-	3	21827	c.21624C>A	c.(21622-21624)gcC>gcA	p.A7208A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7210	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A7208A(2)|p.A2841A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGTGATGTGGCTTTGGATG	0.473																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21622-21624)GCC>GCA		mucin 16							226.0	216.0	219.0					19																	9065822		2078	4211	6289	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065822G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21624C>A	19.37:g.9065822G>T							p.A7208A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21828	-			7210			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21624C>A	CCDS54212.1																																																																																				PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	179	20	179	---	---	---	---
DDX39A	10212	broad.mit.edu	37	19	14522397	14522397	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:14522397A>G	ENST00000242776.4	-	4	451	c.350T>C	c.(349-351)gTc>gCc	p.V117A	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.V117A|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	117	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V117A(1)		NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						GTGGCACATGACCAGGACCGT	0.582																																						uc010xnp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)GTC>GCC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39							120.0	101.0	107.0					19																	14522397		2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14522397A>G	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.350T>C	19.37:g.14522397A>G	ENSP00000242776:p.Val117Ala					DDX39_uc002myo.2_Missense_Mutation_p.V117A|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.V117A	p.V117A	NM_005804	NP_005795	O00148	DX39A_HUMAN			4	395	-			117			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.350T>C	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	a	19.70	3.876809	0.72180	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.51574	3.2;0.7;0.7	3.98	3.98	0.46160	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.070723	0.56097	D	0.000036	T	0.71779	0.3380	M	0.91459	3.21	0.58432	D	0.999995	D;P	0.71674	0.998;0.921	D;D	0.71414	0.973;0.936	T	0.78048	-0.2356	10	0.87932	D	0	-33.0409	11.1275	0.48328	1.0:0.0:0.0:0.0	.	117;117	B1Q2N1;O00148	.;DX39A_HUMAN	A	160;117;117;117	ENSP00000242776:V117A;ENSP00000322749:V117A;ENSP00000392929:V117A	ENSP00000242776:V117A	V	-	2	0	DDX39A	14383397	1.000000	0.71417	0.995000	0.50966	0.890000	0.51754	8.314000	0.89980	1.584000	0.49913	0.529000	0.55759	GTC		PASS	0.582	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		6	66	6	66	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16035633	16035633	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:16035633G>A	ENST00000402119.4	-	5	1011	c.585C>T	c.(583-585)atC>atT	p.I195I	CYP4F11_ENST00000248041.8_Silent_p.I195I|CYP4F11_ENST00000326742.8_Silent_p.I195I|CYP4F11_ENST00000591841.1_Intron	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.I195I(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCATGAGGCTGATGTGTTCAA	0.532																																						uc002nbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(583-585)ATC>ATT		cytochrome P450 family 4 subfamily F polypeptide							99.0	84.0	89.0					19																	16035633		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16035633G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.585C>T	19.37:g.16035633G>A						CYP4F11_uc010eab.1_Silent_p.I195I|CYP4F11_uc002nbt.2_Silent_p.I195I	p.I195I	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			6	621	-			195						Silent	SNP	ENST00000402119.4	37	c.585C>T	CCDS12337.1																																																																																				PASS	0.532	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		7	72	7	72	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16942351	16942351	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:16942351G>A	ENST00000248054.5	+	3	295	c.274G>A	c.(274-276)Gag>Aag	p.E92K	SIN3B_ENST00000379803.1_Missense_Mutation_p.E92K|SIN3B_ENST00000596802.1_Missense_Mutation_p.E92K					SIN3 transcription regulator family member B									p.E92K(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTCTTCCACGAGCACCCTGA	0.453																																						uc002ney.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)GAG>AAG		SIN3 homolog B, transcription regulator							224.0	207.0	213.0					19																	16942351		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16942351G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.274G>A	19.37:g.16942351G>A	ENSP00000248054:p.Glu92Lys					SIN3B_uc002new.2_Missense_Mutation_p.E92K|SIN3B_uc002nex.2_Missense_Mutation_p.E24K|SIN3B_uc002nez.1_Missense_Mutation_p.E92K	p.E92K	NM_015260	NP_056075	O75182	SIN3B_HUMAN			3	288	+			92			Interaction with REST (By similarity).|PAH 1.			Missense_Mutation	SNP	ENST00000248054.5	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	G	28.8	4.955852	0.92726	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.42513	0.97;0.97	4.67	3.61	0.41365	.	0.054978	0.64402	D	0.000001	T	0.44159	0.1280	N	0.20685	0.6	0.47407	D	0.999414	D;P;D	0.71674	0.998;0.741;0.994	P;B;P	0.59056	0.851;0.129;0.748	T	0.47459	-0.9116	10	0.66056	D	0.02	-13.9952	13.8624	0.63569	0.0:0.154:0.846:0.0	.	92;92;92	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	K	92	ENSP00000369131:E92K;ENSP00000248054:E92K	ENSP00000248054:E92K	E	+	1	0	SIN3B	16803351	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.291000	0.96070	0.936000	0.37367	0.455000	0.32223	GAG		PASS	0.453	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		7	241	7	241	---	---	---	---
NDUFA13	51079	broad.mit.edu	37	19	19625912	19625912	+	5'Flank	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:19625912C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.G109R|NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.G109R|NDUFA13_ENST00000252576.5_5'Flank|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.G109R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCCTGAACTCCGGGGATGCGC	0.637																																						uc002nmr.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(325-327)GGA>AGA		testis-specific serine kinase 6							37.0	39.0	38.0					19																	19625912		2203	4299	6502	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625912C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625912C>T	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	p.G109R	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	558	-			109			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.325G>A	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	4.729	0.135579	0.09032	.	.	ENSG00000178093	ENST00000360913	T	0.23950	1.88	4.85	2.62	0.31277	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.200129	0.24841	U	0.035161	T	0.14227	0.0344	N	0.17564	0.495	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.18461	-1.0336	10	0.87932	D	0	.	7.2007	0.25879	0.2019:0.698:0.0:0.1001	.	109	Q9BXA6	TSSK6_HUMAN	R	109	ENSP00000354168:G109R	ENSP00000354168:G109R	G	-	1	0	TSSK6	19486912	0.012000	0.17670	0.597000	0.28824	0.014000	0.08584	1.782000	0.38654	1.061000	0.40601	-0.665000	0.03846	GGA		PASS	0.637	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		6	61	6	61	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769840	31769840	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:31769840G>T	ENST00000240587.4	-	2	1186	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	287					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L287M(1)|p.L104M(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAATCCTGCAGGGACTCAAAG	0.522																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(859-861)CTG>ATG		zinc finger protein 537							116.0	105.0	109.0					19																	31769840		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769840G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.859C>A	19.37:g.31769840G>T	ENSP00000240587:p.Leu287Met						p.L287M	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	924	-	Esophageal squamous(110;0.226)		287			C2H2-type 2.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.859C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274447	0.59649	.	.	ENSG00000121297	ENST00000240587	T	0.46063	0.88	5.67	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.54323	1.7	0.80722	D	1	P	0.39003	0.654	P	0.57679	0.825	T	0.63060	-0.6721	10	0.87932	D	0	-14.7103	16.5992	0.84807	0.0:0.1304:0.8696:0.0	.	287	Q63HK5	TSH3_HUMAN	M	287	ENSP00000240587:L287M	ENSP00000240587:L287M	L	-	1	2	TSHZ3	36461680	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.432000	0.66514	1.357000	0.45904	0.655000	0.94253	CTG		PASS	0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	154	6	154	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210533	37210533	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:37210533C>G	ENST00000536254.2	+	6	1129	c.907C>G	c.(907-909)Cac>Gac	p.H303D	ZNF567_ENST00000360729.4_Missense_Mutation_p.H272D|ZNF567_ENST00000392163.2_Missense_Mutation_p.H272D|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.H272D|ZNF567_ENST00000588311.1_Missense_Mutation_p.H272D			Q8N184	ZN567_HUMAN	zinc finger protein 567	303					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.H272D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCAGAGAACTCACACAGGAGA	0.423																																						uc010xtl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)CAC>GAC		zinc finger protein 567							51.0	53.0	52.0					19																	37210533		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210533C>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.907C>G	19.37:g.37210533C>G	ENSP00000441838:p.His303Asp					ZNF567_uc002oeo.1_Missense_Mutation_p.H303D|ZNF567_uc010xtk.1_Missense_Mutation_p.H303D|ZNF567_uc002oep.3_Missense_Mutation_p.H272D|ZNF567_uc002oeq.1_Missense_Mutation_p.H272D	p.H303D	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1129	+	Esophageal squamous(110;0.198)		303			C2H2-type 3.		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.907C>G		.	.	.	.	.	.	.	.	.	.	C	15.98	2.993789	0.54041	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	D;D;D	0.88975	-2.45;-2.45;-2.45	4.83	4.83	0.62350	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.142318	0.32868	N	0.005556	D	0.95446	0.8521	M	0.91459	3.21	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.995	D	0.96247	0.9180	10	0.87932	D	0	.	15.4644	0.75387	0.0:1.0:0.0:0.0	.	303;272	Q8N184;F8WEL6	ZN567_HUMAN;.	D	303;303;272;302;272	ENSP00000441838:H303D;ENSP00000353957:H272D;ENSP00000376003:H272D	ENSP00000353957:H272D	H	+	1	0	ZNF567	41902373	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	6.858000	0.75461	2.508000	0.84585	0.462000	0.41574	CAC		PASS	0.423	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		3	56	3	56	---	---	---	---
PSG11	5680	broad.mit.edu	37	19	43523150	43523150	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:43523150C>T	ENST00000401740.1	-	3	584	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	PSG11_ENST00000320078.7_Missense_Mutation_p.A161T|PSG11_ENST00000306322.7_Missense_Mutation_p.A39T|PSG11_ENST00000403486.1_Missense_Mutation_p.A39T|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	161	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A161T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTCTCCATGGCCTCCCTGGGG	0.522																																						uc002ovm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(481-483)GCC>ACC		pregnancy specific beta-1-glycoprotein 11							211.0	215.0	214.0					19																	43523150		2200	4297	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523150C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.481G>A	19.37:g.43523150C>T	ENSP00000384995:p.Ala161Thr					PSG11_uc002ouw.2_Missense_Mutation_p.A167T|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A167T|PSG11_uc002ovn.1_Missense_Mutation_p.A167T|PSG11_uc002ovo.1_Missense_Mutation_p.A39T|PSG11_uc002ovp.1_Missense_Mutation_p.A39T	p.A161T	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	588	-		Prostate(69;0.00682)	161			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.481G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	4.713	0.132492	0.09032	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	1.13	-2.25	0.06888	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.22541	0.071;0.006	B;B	0.26770	0.073;0.033	T	0.37798	-0.9690	9	0.54805	T	0.06	.	2.3214	0.04211	0.0:0.3913:0.3332:0.2755	.	39;161	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	T	161;39;39;161	ENSP00000319140:A161T;ENSP00000385427:A39T;ENSP00000304913:A39T;ENSP00000384995:A161T	ENSP00000304913:A39T	A	-	1	0	PSG11	48214990	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-2.155000	0.01284	-0.387000	0.07809	0.184000	0.17185	GCC		PASS	0.522	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		17	311	17	311	---	---	---	---
RCN3	57333	broad.mit.edu	37	19	50046438	50046438	+	Missense_Mutation	SNP	G	G	A	rs139927137		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:50046438G>A	ENST00000270645.3	+	7	1402	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	319						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)	p.E319K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CAACTATGGCGAGGACCTGAC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15130	0.0		0.001	False		,,,				2504	0.0					uc002poj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(955-957)GAG>AAG		reticulocalbin 3, EF-hand calcium binding domain							71.0	54.0	59.0					19																	50046438		2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50046438G>A	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.955G>A	19.37:g.50046438G>A	ENSP00000270645:p.Glu319Lys						p.E319K	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	7	1402	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	319					Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.955G>A	CCDS12771.1	7	0.003205128205128205	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	3	0.00395778364116095	G	35	5.506088	0.96386	.	.	ENSG00000142552	ENST00000270645	T	0.55930	0.49	4.42	4.42	0.53409	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77651	-0.2508	10	0.52906	T	0.07	-42.339	16.0347	0.80617	0.0:0.0:1.0:0.0	.	319	Q96D15	RCN3_HUMAN	K	319	ENSP00000270645:E319K	ENSP00000270645:E319K	E	+	1	0	RCN3	54738250	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	7.453000	0.80700	2.297000	0.77311	0.555000	0.69702	GAG		PASS	0.632	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		3	45	3	45	---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52519532	52519532	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:52519532C>T	ENST00000270649.6	-	5	1863	c.1319G>A	c.(1318-1320)cGc>cAc	p.R440H	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	440					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.R440H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AATAAGAGTGCGCTTTGTGGT	0.408																																						uc002pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(1318-1320)CGC>CAC		zinc finger protein 614							124.0	124.0	124.0					19																	52519532		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519532C>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1319G>A	19.37:g.52519532C>T	ENSP00000270649:p.Arg440His					ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.R143H	p.R440H	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1721	-		all_neural(266;0.0505)	440			C2H2-type 8.		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1319G>A	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387486	0.25031	.	.	ENSG00000142556	ENST00000270649	T	0.15139	2.45	3.5	-5.14	0.02875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	N	0.11154	0.105	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.37220	-0.9715	9	0.87932	D	0	.	0.4869	0.00557	0.3874:0.1858:0.219:0.2079	.	440	Q8N883	ZN614_HUMAN	H	440	ENSP00000270649:R440H	ENSP00000270649:R440H	R	-	2	0	ZNF614	57211344	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-1.731000	0.01853	-0.464000	0.06963	0.563000	0.77884	CGC		PASS	0.408	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		8	186	8	186	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55708603	55708603	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:55708603C>A	ENST00000376350.3	-	9	1894	c.1872G>T	c.(1870-1872)agG>agT	p.R624S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.R446S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	624	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R624S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCATTGGTCCTGCTGGTCT	0.577																																						uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1870-1872)AGG>AGT		protein tyrosine phosphatase, receptor type, H							129.0	113.0	118.0					19																	55708603		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708603C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1872G>T	19.37:g.55708603C>A	ENSP00000365528:p.Arg624Ser					PTPRH_uc010esv.2_Missense_Mutation_p.R446S|PTPRH_uc002qjs.2_Missense_Mutation_p.R631S	p.R624S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1945	-		Renal(1328;0.245)	624			Extracellular (Potential).|Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1872G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	5.855	0.342024	0.11069	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54071	0.59;0.59	4.65	-2.15	0.07102	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.456209	0.16436	N	0.214485	T	0.18635	0.0447	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.22276	0.067;0.054;0.025	B;B;B	0.32393	0.145;0.042;0.05	T	0.26326	-1.0106	10	0.10111	T	0.7	.	1.2591	0.01998	0.1691:0.3252:0.3084:0.1973	.	446;446;624	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	S	624;446	ENSP00000365528:R624S;ENSP00000263434:R446S	ENSP00000263434:R446S	R	-	3	2	PTPRH	60400415	0.000000	0.05858	0.003000	0.11579	0.421000	0.31385	-0.865000	0.04250	-0.030000	0.13804	0.561000	0.74099	AGG		PASS	0.577	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			21	114	21	114	---	---	---	---
ZSCAN22	342945	broad.mit.edu	37	19	58849911	58849911	+	Missense_Mutation	SNP	C	C	T	rs201399248		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:58849911C>T	ENST00000329665.4	+	3	842	c.695C>T	c.(694-696)gCg>gTg	p.A232V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	232					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A232V(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGTTCTAGTGCGTGGCCAAAC	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20180	0.001		0.0	False		,,,				2504	0.0					uc002qsc.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	pancreas(1)	1						c.(694-696)GCG>GTG		zinc finger and SCAN domain containing 22							165.0	172.0	170.0					19																	58849911		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58849911C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.695C>T	19.37:g.58849911C>T	ENSP00000332433:p.Ala232Val					ZSCAN22_uc010yhz.1_Missense_Mutation_p.R227C	p.A232V	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	842	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	232					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.695C>T	CCDS12975.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.12	1.264052	0.23136	.	.	ENSG00000182318	ENST00000329665	T	0.08282	3.11	4.02	-7.45	0.01374	.	.	.	.	.	T	0.02267	0.0070	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	9	0.25751	T	0.34	.	0.6009	0.00744	0.3425:0.2541:0.232:0.1714	.	232	P10073	ZSC22_HUMAN	V	232	ENSP00000332433:A232V	ENSP00000332433:A232V	A	+	2	0	ZSCAN22	63541723	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-1.269000	0.02834	-1.015000	0.03375	-0.657000	0.03884	GCG		PASS	0.522	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		22	307	22	307	---	---	---	---
ZNF324B	388569	broad.mit.edu	37	19	58966636	58966636	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr19:58966636G>A	ENST00000336614.4	+	4	432	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	ZNF324B_ENST00000545523.1_Missense_Mutation_p.V109I|ZNF324B_ENST00000391696.1_Missense_Mutation_p.V99I	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	109					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.V109I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GACTACTAGCGTCTTCCCAGT	0.547																																						uc002qsv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(325-327)GTC>ATC		zinc finger protein 324B							83.0	92.0	89.0					19																	58966636		2203	4300	6503	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58966636G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.325G>A	19.37:g.58966636G>A	ENSP00000337473:p.Val109Ile					ZNF324B_uc002qsu.1_Missense_Mutation_p.V99I|ZNF324B_uc010euq.1_Missense_Mutation_p.V109I	p.V109I	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	432	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	109					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.325G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	3.257	-0.151979	0.06585	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.08370	3.41;3.41;3.1	2.0	-4.0	0.04057	.	1.210900	0.06429	N	0.723745	T	0.04679	0.0127	N	0.16656	0.425	0.09310	N	1	B;B	0.15719	0.007;0.014	B;B	0.12837	0.003;0.008	T	0.43956	-0.9359	10	0.26408	T	0.33	.	5.7661	0.18227	0.622:0.1648:0.2132:0.0	.	109;99	Q6AW86;C9JTQ8	Z324B_HUMAN;.	I	109;109;99	ENSP00000337473:V109I;ENSP00000438930:V109I;ENSP00000375578:V99I	ENSP00000337473:V109I	V	+	1	0	ZNF324B	63658448	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.069000	0.11542	-1.385000	0.02101	-0.332000	0.08345	GTC		PASS	0.547	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		7	101	7	101	---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21328833	21328833	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr20:21328833C>T	ENST00000377191.3	+	18	1810	c.1715C>T	c.(1714-1716)gCt>gTt	p.A572V	XRN2_ENST00000430571.2_Missense_Mutation_p.A496V|XRN2_ENST00000539513.1_Missense_Mutation_p.A518V	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	572					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A572V(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCACCATTTGCTTCAGACTTT	0.348																																						uc002wsf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1714-1716)GCT>GTT		5'-3' exoribonuclease 2							130.0	120.0	123.0					20																	21328833		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21328833C>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1715C>T	20.37:g.21328833C>T	ENSP00000366396:p.Ala572Val					XRN2_uc002wsg.1_Missense_Mutation_p.A496V|XRN2_uc010zsk.1_Missense_Mutation_p.A518V	p.A572V	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			18	1810	+			572					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.1715C>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283694	0.95489	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.71579	-0.58;-0.58;-0.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80037	-0.1550	10	0.34782	T	0.22	-15.957	19.5216	0.95187	0.0:1.0:0.0:0.0	.	572	Q9H0D6	XRN2_HUMAN	V	572;496;518	ENSP00000366396:A572V;ENSP00000413548:A496V;ENSP00000441113:A518V	ENSP00000366396:A572V	A	+	2	0	XRN2	21276833	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.417000	0.80156	2.679000	0.91253	0.591000	0.81541	GCT		PASS	0.348	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		4	80	4	80	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35127697	35127697	+	Intron	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr20:35127697C>T	ENST00000373907.2	+	8	2209				DLGAP4_ENST00000373913.3_Missense_Mutation_p.A688V|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A688V|DLGAP4_ENST00000475894.1_Intron|DLGAP4_ENST00000340491.4_Intron|DLGAP4_ENST00000339266.5_Intron			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.A688V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGACCCAAAGCGATCGATGTG	0.587																																						uc002xff.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2062-2064)GCG>GTG		disks large-associated protein 4 isoform a							130.0	92.0	105.0					20																	35127697		2203	4300	6503	SO:0001627	intron_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35127697C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2011-294C>T	20.37:g.35127697C>T						DLGAP4_uc010zvp.1_Missense_Mutation_p.A688V|DLGAP4_uc002xfg.2_Intron|DLGAP4_uc002xfh.2_Intron|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'UTR	p.A688V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			9	2498	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2063C>T		.	.	.	.	.	.	.	.	.	.	C	11.79	1.744243	0.30865	.	.	ENSG00000080845	ENST00000373913;ENST00000401952	T;T	0.29655	1.56;1.56	5.58	4.58	0.56647	.	.	.	.	.	T	0.39911	0.1096	M	0.88105	2.93	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.38478	-0.9659	9	0.41790	T	0.15	.	10.9391	0.47262	0.1865:0.8135:0.0:0.0	.	688	Q9Y2H0-1	.	V	688	ENSP00000363023:A688V;ENSP00000384954:A688V	ENSP00000363023:A688V	A	+	2	0	DLGAP4	34561111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.282000	0.33226	2.621000	0.88768	0.650000	0.86243	GCG		PASS	0.587	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		4	88	4	88	---	---	---	---
PTGIS	5740	broad.mit.edu	37	20	48164500	48164500	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr20:48164500C>T	ENST00000244043.4	-	3	284	c.255G>A	c.(253-255)gcG>gcA	p.A85A	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	85					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.A85A(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	CCCACACCACCGCGTCGTAGG	0.557																																						uc002xut.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(253-255)GCG>GCA		prostaglandin I2 synthase	Phenylbutazone(DB00812)						114.0	100.0	105.0					20																	48164500		2203	4300	6503	SO:0001819	synonymous_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48164500C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.255G>A	20.37:g.48164500C>T						PTGIS_uc010zyi.1_Intron	p.A85A	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	309	-			85					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	c.255G>A	CCDS13419.1																																																																																				PASS	0.557	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			5	140	5	140	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60578821	60578821	+	Silent	SNP	C	C	T	rs140240263		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr20:60578821C>T	ENST00000252996.4	-	8	2336	c.2337G>A	c.(2335-2337)acG>acA	p.T779T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	779					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T779T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTGCTGAGGCGTGGTGAGCA	0.677																																						uc002ybs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2335-2337)ACG>ACA		TBP-associated factor 4		C		0,4404		0,0,2202	40.0	34.0	36.0		2337	-8.3	0.2	20	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAF4	NM_003185.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		779/1086	60578821	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60578821C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2337G>A	20.37:g.60578821C>T							p.T779T	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		8	2337	-	Breast(26;1e-08)		779					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.2337G>A	CCDS33500.1																																																																																				PASS	0.677	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		4	30	4	30	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62591483	62591483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr20:62591483G>A	ENST00000450537.1	-	17	2497	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	ZNF512B_ENST00000217130.3_Nonsense_Mutation_p.R813*|ZNF512B_ENST00000369888.1_Nonsense_Mutation_p.R813*			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	813					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.R813*(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTGATGTTCGGAACCAGTTC	0.552																																						uc002yhl.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2437-2439)CGA>TGA		zinc finger protein 512B							80.0	88.0	85.0					20																	62591483		2203	4300	6503	SO:0001587	stop_gained	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62591483G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2437C>T	20.37:g.62591483G>A	ENSP00000393795:p.Arg813*						p.R813*	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			17	2491	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		813					Q08AK9|Q9ULM4	Nonsense_Mutation	SNP	ENST00000450537.1	37	c.2437C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	39	7.590537	0.98378	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.98	4.03	0.46877	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-8.169	11.959	0.52997	0.0821:0.0:0.9178:0.0	.	.	.	.	X	813	.	ENSP00000217130:R813X	R	-	1	2	ZNF512B	62061927	1.000000	0.71417	0.982000	0.44146	0.725000	0.41563	3.831000	0.55776	1.093000	0.41377	0.313000	0.20887	CGA		PASS	0.552	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		11	75	11	75	---	---	---	---
MRAP	56246	broad.mit.edu	37	21	33684247	33684247	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr21:33684247C>T	ENST00000399784.2	+	5	646	c.459C>T	c.(457-459)ctC>ctT	p.L153L	MRAP_ENST00000399786.3_Intron|MRAP_ENST00000339944.4_Intron|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000303645.5_Silent_p.L153L	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	153					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.L153L(1)		endometrium(1)|large_intestine(2)|lung(3)	6						GGGGTCCCCTCGTCAGGAGCA	0.602																																						uc002ypj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)CTC>CTT		melanocortin 2 receptor accessory protein							46.0	46.0	46.0					21																	33684247		2203	4299	6502	SO:0001819	synonymous_variant	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33684247C>T	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.459C>T	21.37:g.33684247C>T						MRAP_uc002ypk.2_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.1_Silent_p.L94L|MRAP_uc002ypl.2_Silent_p.L153L	p.L153L	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN			5	646	+			153			Extracellular (Potential).		Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	ENST00000399784.2	37	c.459C>T	CCDS13613.1																																																																																				PASS	0.602	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		5	116	5	116	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43277285	43277285	+	Splice_Site	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr21:43277285C>A	ENST00000269844.3	-	11	1493	c.1383G>T	c.(1381-1383)aaG>aaT	p.K461N	PRDM15_ENST00000422911.1_Splice_Site_p.K132N|PRDM15_ENST00000398548.1_Splice_Site_p.K132N|PRDM15_ENST00000538201.1_Splice_Site_p.K95N|PRDM15_ENST00000447207.2_Splice_Site_p.K95N	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	461	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.K461N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CAGCCTTTACCTTCAGGGGAA	0.527																																						uc002yzq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)AAG>AAT		PR domain containing 15 isoform 1							68.0	72.0	71.0					21																	43277285		2203	4300	6503	SO:0001630	splice_region_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43277285C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1383+1G>T	21.37:g.43277285C>A						PRDM15_uc002yzo.2_Missense_Mutation_p.K132N|PRDM15_uc002yzp.2_Missense_Mutation_p.K132N|PRDM15_uc002yzr.1_Missense_Mutation_p.K132N	p.K461N	NM_022115	NP_071398	P57071	PRD15_HUMAN			11	1494	-			461			SET.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1383G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315214	0.81358	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.10192	2.96;2.96;2.96;2.95;2.9	5.58	5.58	0.84498	SET domain (1);	.	.	.	.	T	0.36826	0.0981	M	0.78456	2.415	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.994;0.991;0.995	T	0.03483	-1.1032	8	.	.	.	-1.0659	19.5714	0.95421	0.0:1.0:0.0:0.0	.	461;132;132	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	N	132;132;95;95;461;95	ENSP00000408592:K132N;ENSP00000381556:K132N;ENSP00000444044:K95N;ENSP00000390245:K95N;ENSP00000269844:K461N	.	K	-	3	2	PRDM15	42150354	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.241000	0.78201	2.626000	0.88956	0.655000	0.94253	AAG		PASS	0.527	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	Missense_Mutation	7	78	7	78	---	---	---	---
FTCD	10841	broad.mit.edu	37	21	47575431	47575432	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr21:47575431_47575432GG>AA	ENST00000291670.5	-	1	49_50	c.6_7CC>TT	c.(4-9)tcCCag>tcTTag	p.Q3*	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Nonsense_Mutation_p.Q3*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.Q3*|FTCD_ENST00000397748.1_Nonsense_Mutation_p.Q3*|FTCD_ENST00000355384.2_Nonsense_Mutation_p.Q3*|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Nonsense_Mutation_p.Q3*	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	3	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.Q3*(2)|p.S2S(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TCCACCAGCTGGGACATGGCCA	0.624																																						uc002zif.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	pancreas(1)|skin(1)	2						c.(7-9)CAG>TAG|c.(4-6)TCC>TCT		formiminotransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)																																			SO:0001587	stop_gained	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47575431G>A|g.chr21:47575432G>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.6_7delinsAA	21.37:g.47575431_47575432delinsAA	ENSP00000291670:p.Gln3*					FTCD_uc002zig.2_Nonsense_Mutation_p.Q3*|FTCD_uc002zih.2_Nonsense_Mutation_p.Q3*|FTCD_uc010gqf.2_Nonsense_Mutation_p.Q3*|FTCD_uc010gqg.1_5'UTR|FTCD_uc002zig.2_Silent_p.S2S|FTCD_uc002zih.2_Silent_p.S2S|FTCD_uc010gqf.2_Silent_p.S2S|FTCD_uc010gqg.1_5'UTR	p.Q3*|p.S2S	NM_006657	NP_006648	O95954	FTCD_HUMAN		Colorectal(79;0.235)	1	51|50	-	Breast(49;0.214)		3|2			Formiminotransferase N-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Nonsense_Mutation|Silent	SNP	ENST00000291670.5	37	c.7C>T|c.6C>T	CCDS13731.1																																																																																				PASS	0.624	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		13	58	13	58	---	---	---	---
SLC25A18	83733	broad.mit.edu	37	22	18070729	18070729	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:18070729C>T	ENST00000327451.6	+	9	1152	c.614C>T	c.(613-615)gCc>gTc	p.A205V	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.A205V	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	205						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)	p.A205V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CCACTGTTTGCCAACCTTAAC	0.557																																					Colon(118;1560 1625 18964 29606 50093)	uc002zmp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)GCC>GTC		solute carrier	L-Glutamic Acid(DB00142)						245.0	198.0	214.0					22																	18070729		2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18070729C>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.614C>T	22.37:g.18070729C>T	ENSP00000329033:p.Ala205Val					SLC25A18_uc010gqx.2_Missense_Mutation_p.A205V|SLC25A18_uc002zmq.1_Missense_Mutation_p.A205V	p.A205V	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	9	1108	+			205			Solcar 2.|Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000327451.6	37	c.614C>T	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284502	0.95517	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.79352	-1.26;-1.26	4.68	4.68	0.58851	Mitochondrial carrier domain (2);	0.174101	0.49916	D	0.000126	D	0.88142	0.6357	M	0.81614	2.55	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.89692	0.3898	10	0.62326	D	0.03	.	16.7801	0.85561	0.0:1.0:0.0:0.0	.	205	Q9H1K4	GHC2_HUMAN	V	205	ENSP00000329033:A205V;ENSP00000382710:A205V	ENSP00000329033:A205V	A	+	2	0	SLC25A18	16450729	1.000000	0.71417	0.940000	0.37924	0.988000	0.76386	5.550000	0.67268	2.311000	0.77944	0.555000	0.69702	GCC		PASS	0.557	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		6	135	6	135	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19959465	19959465	+	Missense_Mutation	SNP	G	G	A	rs34687532	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:19959465G>A	ENST00000263207.3	-	18	3016	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	ARVCF_ENST00000406259.1_Missense_Mutation_p.R903W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R846W|ARVCF_ENST00000401994.1_Missense_Mutation_p.R846W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R840W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	909			R -> Q (in dbSNP:rs34638476).|R -> W (in dbSNP:rs34687532).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R909W(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTGGCCTCCGCTCCCTCCGG	0.647													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18718	0.0		0.001	False		,,,				2504	0.001					uc002zqz.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(2725-2727)CGG>TGG		armadillo repeat protein		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	72.0	67.0	69.0		2725	0.4	0.1	22	dbSNP_126	69	9,8591	7.1+/-27.0	0,9,4291	yes	missense	ARVCF	NM_001670.2	101	0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846	probably-damaging	909/963	19959465	11,12995	2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19959465G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2725C>T	22.37:g.19959465G>A	ENSP00000263207:p.Arg909Trp					ARVCF_uc002zqy.2_Missense_Mutation_p.R425W	p.R909W	NM_001670	NP_001661	O00192	ARVC_HUMAN			18	2996	-	Colorectal(54;0.0993)		909					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2725C>T	CCDS13771.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	9.168	1.020414	0.19433	4.54E-4	0.001047	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.70045	-0.45;-0.4;-0.4;-0.4;-0.45	4.01	0.426	0.16479	.	0.494780	0.22007	N	0.065939	T	0.51787	0.1695	L	0.48642	1.525	0.29239	N	0.87278	B;B	0.15473	0.007;0.013	B;B	0.09377	0.004;0.003	T	0.38908	-0.9639	9	.	.	.	-1.2126	6.9404	0.24490	0.0877:0.0:0.5989:0.3134	rs34687532	909;425	O00192;E7EV58	ARVC_HUMAN;.	W	909;846;846;840;903	ENSP00000263207:R909W;ENSP00000342042:R846W;ENSP00000384341:R846W;ENSP00000384732:R840W;ENSP00000385444:R903W	.	R	-	1	2	ARVCF	18339465	0.018000	0.18449	0.084000	0.20598	0.061000	0.15899	0.685000	0.25378	0.066000	0.16515	0.462000	0.41574	CGG		PASS	0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		8	114	8	114	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20819605	20819605	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:20819605G>T	ENST00000328879.4	-	4	808	c.652C>A	c.(652-654)Ctt>Att	p.L218I	KLHL22_ENST00000440659.2_Missense_Mutation_p.L75I	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	218					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.L218I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGGTAGAGAAGGGCCCCCTCA	0.582																																						uc002zsl.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(652-654)CTT>ATT		kelch-like							35.0	37.0	36.0					22																	20819605		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819605G>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.652C>A	22.37:g.20819605G>T	ENSP00000331682:p.Leu218Ile					KLHL22_uc011ahr.1_Missense_Mutation_p.L75I|KLHL22_uc002zsm.1_Missense_Mutation_p.L218I	p.L218I	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	761	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.652C>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127111	0.56721	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967;ENST00000458248	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.32	4.31	0.51392	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	L	0.45744	1.44	0.53688	D	0.999978	D;D	0.76494	0.999;0.99	D;D	0.85130	0.997;0.91	T	0.67154	-0.5742	10	0.07644	T	0.81	.	8.1694	0.31245	0.1815:0.0:0.8185:0.0	.	75;218	B7Z2G1;Q53GT1	.;KLH22_HUMAN	I	218;75;141;250;218	ENSP00000331682:L218I;ENSP00000405521:L75I;ENSP00000400095:L141I;ENSP00000403999:L250I;ENSP00000398616:L218I	ENSP00000331682:L218I	L	-	1	0	KLHL22	19149605	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	5.509000	0.67012	1.244000	0.43870	0.655000	0.94253	CTT		PASS	0.582	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		3	49	3	49	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20819760	20819760	+	Missense_Mutation	SNP	C	C	T	rs373742566		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:20819760C>T	ENST00000328879.4	-	4	653	c.497G>A	c.(496-498)cGc>cAc	p.R166H	KLHL22_ENST00000440659.2_Missense_Mutation_p.R23H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	166					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.R166H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCAGTCAGGCGGCTCAAGTC	0.502																																						uc002zsl.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(496-498)CGC>CAC		kelch-like							62.0	64.0	63.0					22																	20819760		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819760C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.497G>A	22.37:g.20819760C>T	ENSP00000331682:p.Arg166His					KLHL22_uc011ahr.1_Missense_Mutation_p.R23H|KLHL22_uc002zsm.1_Missense_Mutation_p.R166H	p.R166H	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	606	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	166					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.497G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148570	0.37923	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.43	0.89	0.19218	BTB/Kelch-associated (2);	0.411083	0.30177	N	0.010227	T	0.47728	0.1461	N	0.24115	0.695	0.30154	N	0.802759	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.44143	-0.9347	10	0.48119	T	0.1	.	8.8495	0.35190	0.0:0.6776:0.0:0.3224	.	23;166	B7Z2G1;Q53GT1	.;KLH22_HUMAN	H	166;23;89;198;166;200	ENSP00000331682:R166H;ENSP00000405521:R23H;ENSP00000400095:R89H;ENSP00000403999:R198H;ENSP00000398616:R166H;ENSP00000397882:R200H	ENSP00000331682:R166H	R	-	2	0	KLHL22	19149760	0.843000	0.29541	0.998000	0.56505	0.993000	0.82548	1.174000	0.31932	0.257000	0.21650	0.655000	0.94253	CGC		PASS	0.502	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		7	63	7	63	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21064988	21064988	+	Splice_Site	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:21064988G>A	ENST00000572273.1	-	52	6138	c.5908C>T	c.(5908-5910)Cgg>Tgg	p.R1970W	PI4KA_ENST00000414196.3_Splice_Site_p.R780W|PI4KA_ENST00000255882.6_Splice_Site_p.R2028W			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1970	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.R1970W(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGGCTCACCGCACAGCCAGG	0.587																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(5908-5910)CGG>TGG		phosphatidylinositol 4-kinase type 3 alpha							180.0	157.0	165.0					22																	21064988		2203	4300	6503	SO:0001630	splice_region_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21064988G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5909+1C>T	22.37:g.21064988G>A						PI4KA_uc010gsp.2_Missense_Mutation_p.R361W|PI4KA_uc002zsy.3_Missense_Mutation_p.R780W	p.R1970W	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		52	6139	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1970			PI3K/PI4K.		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.5908C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.976664	0.74360	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.23754	1.89;1.89	5.01	2.74	0.32292	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.76366	-0.2985	10	0.87932	D	0	-17.0665	12.3526	0.55157	0.0:0.0:0.5821:0.4179	.	361;1970	A8MTF1;P42356	.;PI4KA_HUMAN	W	1970;780;361	ENSP00000402981:R780W;ENSP00000382162:R361W	ENSP00000255882:R1970W	R	-	1	2	PI4KA	19394988	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.486000	0.45259	1.195000	0.43115	0.536000	0.68110	CGG		PASS	0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	Missense_Mutation	4	84	4	84	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422432	26422432	+	Missense_Mutation	SNP	C	C	A	rs200512148		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:26422432C>A	ENST00000407587.2	+	43	6664	c.6495C>A	c.(6493-6495)gaC>gaA	p.D2165E	MYO18B_ENST00000335473.7_Missense_Mutation_p.D2164E|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2164E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2164						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D2165E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCTGGGGACACTGAGAGGA	0.512																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6490-6492)GAC>GAA		myosin XVIIIB							113.0	124.0	121.0					22																	26422432		1897	4122	6019	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422432C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6495C>A	22.37:g.26422432C>A	ENSP00000386096:p.Asp2165Glu					MYO18B_uc003aca.1_Missense_Mutation_p.D2045E|MYO18B_uc010guy.1_Missense_Mutation_p.D2046E|MYO18B_uc010guz.1_Missense_Mutation_p.D2044E|MYO18B_uc011aka.1_Missense_Mutation_p.D1318E|MYO18B_uc011akb.1_Missense_Mutation_p.D1677E|MYO18B_uc010gva.1_Missense_Mutation_p.D147E|MYO18B_uc010gvb.1_RNA	p.D2164E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	6742	+			2164					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6492C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785873|2.785873	0.49997|0.49997	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88046|.	-2.31;-2.31;-2.33|.	5.48|5.48	-0.185|-0.185	0.13276|0.13276	.|.	0.000000|.	0.33753|.	N|.	0.004584|.	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	0.999999|0.999999	P;P;D;P;D|.	0.76494|.	0.884;0.941;0.999;0.884;0.999|.	B;P;D;B;D|.	0.80764|.	0.256;0.453;0.987;0.4;0.994|.	T|T	0.38243|0.38243	-0.9670|-0.9670	10|5	0.12766|.	T|.	0.61|.	.|.	8.6644|8.6644	0.34112|0.34112	0.0:0.4961:0.0:0.5039|0.0:0.4961:0.0:0.5039	.|.	1677;2166;2164;2165;2164|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	E|K	2164;2164;2165|114	ENSP00000441229:D2164E;ENSP00000334563:D2164E;ENSP00000386096:D2165E|.	ENSP00000334563:D2164E|.	D|T	+|+	3|2	2|0	MYO18B|MYO18B	24752432|24752432	0.000000|0.000000	0.05858|0.05858	0.068000|0.068000	0.19968|0.19968	0.048000|0.048000	0.14542|0.14542	-1.259000|-1.259000	0.02861|0.02861	-0.132000|-0.132000	0.11557|0.11557	-0.469000|-0.469000	0.05056|0.05056	GAC|ACA		PASS	0.512	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		15	258	15	258	---	---	---	---
SEC14L3	266629	broad.mit.edu	37	22	30864530	30864530	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:30864530G>A	ENST00000215812.4	-	5	478	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	SEC14L3_ENST00000415957.2_Missense_Mutation_p.R71C|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R71C|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R71C|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R53C|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R53C|SEC14L3_ENST00000403066.1_Missense_Mutation_p.R71C	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	130	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R130C(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGCAGGATGCGCTCACAGTCC	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(388-390)CGC>TGC		SEC14-like 3	Vitamin E(DB00163)						165.0	119.0	135.0					22																	30864530		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30864530G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.388C>T	22.37:g.30864530G>A	ENSP00000215812:p.Arg130Cys					SEC14L3_uc003ahz.2_Missense_Mutation_p.R53C|SEC14L3_uc003aia.2_Missense_Mutation_p.R71C|SEC14L3_uc003aib.2_Missense_Mutation_p.R71C	p.R130C	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			5	477	-			130			CRAL-TRIO.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.388C>T	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350380	0.61183	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.55	2.42	0.29668	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.580802	0.18547	N	0.138033	T	0.80374	0.4611	M	0.69358	2.11	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.58970	0.849;0.849	T	0.75399	-0.3331	10	0.38643	T	0.18	-4.5324	4.6242	0.12470	0.0806:0.2789:0.4972:0.1433	.	53;130	E9PE57;Q9UDX4	.;S14L3_HUMAN	C	71;71;130;53;71;71;53	ENSP00000385941:R71C;ENSP00000401864:R71C;ENSP00000215812:R130C;ENSP00000385004:R53C;ENSP00000383896:R71C;ENSP00000444691:R71C;ENSP00000439752:R53C	ENSP00000215812:R130C	R	-	1	0	SEC14L3	29194530	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.514000	0.22786	0.456000	0.26937	0.637000	0.83480	CGC		PASS	0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		9	112	9	112	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37491609	37491609	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:37491609C>A	ENST00000346753.3	-	6	756	c.640G>T	c.(640-642)Gca>Tca	p.A214S	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A205S|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A205S|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A214S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A205S	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	214	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.A214S(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GAATTCAATGCAGCTATGTCT	0.338																																						uc003aqs.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|skin(1)	6						c.(640-642)GCA>TCA		transmembrane protease, serine 6							96.0	98.0	97.0					22																	37491609		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37491609C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.640G>T	22.37:g.37491609C>A	ENSP00000334962:p.Ala214Ser					TMPRSS6_uc003aqt.1_Missense_Mutation_p.A205S|TMPRSS6_uc003aqu.2_Missense_Mutation_p.A205S	p.A214S	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			6	754	-			214			CUB 1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.640G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153782	0.01700	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.91740	-2.9;-2.9;-2.9;-2.9;-0.85	5.11	2.79	0.32731	.	1.087510	0.07083	N	0.837482	D	0.83413	0.5249	N	0.08118	0	0.09310	N	1	B;B;B	0.28933	0.228;0.034;0.02	B;B;B	0.25140	0.058;0.036;0.01	T	0.72418	-0.4300	10	0.36615	T	0.2	.	11.2666	0.49114	0.1355:0.7897:0.0:0.0748	.	214;205;214	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	S	205;214;205;205;214	ENSP00000371211:A205S;ENSP00000334962:A214S;ENSP00000385453:A205S;ENSP00000384964:A205S;ENSP00000397691:A214S	ENSP00000334962:A214S	A	-	1	0	TMPRSS6	35821555	0.959000	0.32827	0.011000	0.14972	0.421000	0.31385	1.852000	0.39348	1.141000	0.42275	0.563000	0.77884	GCA		PASS	0.338	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		6	57	6	57	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40038863	40038863	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:40038863A>G	ENST00000402142.3	+	7	1118	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C	CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y373C|CACNA1I_ENST00000471970.1_3'UTR|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y373C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.Y373C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y373C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y373C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	373					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.Y373C(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CACTCCTTCTACAACTTCATC	0.557																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1117-1119)TAC>TGC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						87.0	83.0	84.0					22																	40038863		2106	4237	6343	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40038863A>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1118A>G	22.37:g.40038863A>G	ENSP00000385019:p.Tyr373Cys					CACNA1I_uc003ayd.2_Missense_Mutation_p.Y373C|CACNA1I_uc003aye.2_Missense_Mutation_p.Y288C|CACNA1I_uc003ayf.2_Missense_Mutation_p.Y288C	p.Y373C	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			7	1118	+	Melanoma(58;0.0749)		373			I.|Extracellular (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.1118A>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774694	0.70107	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.09	4.06	0.47325	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	H	0.97051	3.93	0.52099	D	0.999948	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.98799	1.0739	10	0.87932	D	0	.	10.6459	0.45619	0.9246:0.0:0.0754:0.0	.	373;373;373;373	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	373	ENSP00000385019:Y373C;ENSP00000384093:Y373C;ENSP00000383887:Y373C;ENSP00000385680:Y373C;ENSP00000337829:Y373C;ENSP00000383028:Y373C	ENSP00000337829:Y373C	Y	+	2	0	CACNA1I	38368809	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	0.790000	0.33803	-0.256000	0.11100	TAC		PASS	0.557	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		5	20	5	20	---	---	---	---
SLC25A17	10478	broad.mit.edu	37	22	41173355	41173355	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:41173355G>A	ENST00000435456.2	-	6	607	c.474C>T	c.(472-474)cgC>cgT	p.R158R	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Silent_p.R121R|SLC25A17_ENST00000402844.3_Silent_p.R76R|SLC25A17_ENST00000542412.1_Silent_p.R85R	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	158					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)	p.R158R(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTCCTTCATCGCGAATGATCT	0.408																																						uc003azc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)CGC>CGT		solute carrier family 25 (mitochondrial carrier;							83.0	71.0	75.0					22																	41173355		2203	4300	6503	SO:0001819	synonymous_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41173355G>A	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.474C>T	22.37:g.41173355G>A						SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_Silent_p.R121R|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Silent_p.R85R	p.R158R	NM_006358	NP_006349	O43808	PM34_HUMAN			6	614	-			158			Lumenal (Potential).|Solcar 2.		A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Silent	SNP	ENST00000435456.2	37	c.474C>T	CCDS14005.1																																																																																				PASS	0.408	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		5	49	5	49	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50657616	50657616	+	Missense_Mutation	SNP	C	C	T	rs200841925		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr22:50657616C>T	ENST00000248846.5	-	20	4611	c.4507G>A	c.(4507-4509)Gct>Act	p.A1503T	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1503					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.A1503T(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAGTCGACAGCGGCCTTGTTC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		16298	0.001		0.0	False		,,,				2504	0.0					uc003bkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(4507-4509)GCT>ACT		tubulin, gamma complex associated protein 6		C	THR/ALA	0,4406		0,0,2203	46.0	41.0	43.0		4507	1.7	0.0	22		43	1,8599		0,1,4299	yes	missense	TUBGCP6	NM_020461.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1503/1820	50657616	1,13005	2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50657616C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4507G>A	22.37:g.50657616C>T	ENSP00000248846:p.Ala1503Thr					TUBGCP6_uc003bka.1_Missense_Mutation_p.A590T|TUBGCP6_uc010har.1_Missense_Mutation_p.A1495T|TUBGCP6_uc010has.1_RNA	p.A1503T	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	20	5019	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1503					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4507G>A	CCDS14087.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.938	1.216779	0.22373	0.0	1.16E-4	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.07114	3.22;3.22	5.02	1.69	0.24217	.	0.973888	0.08480	N	0.939740	T	0.12347	0.0300	L	0.46157	1.445	0.20403	N	0.999902	D;D;D	0.63046	0.958;0.992;0.99	B;P;P	0.52823	0.353;0.71;0.586	T	0.24297	-1.0164	10	0.52906	T	0.07	.	2.5221	0.04682	0.209:0.4122:0.0:0.3788	.	1495;1503;1503	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	T	1503;189	ENSP00000248846:A1503T;ENSP00000405979:A189T	ENSP00000248846:A1503T	A	-	1	0	TUBGCP6	48999743	0.061000	0.20836	0.000000	0.03702	0.071000	0.16799	1.625000	0.37029	0.482000	0.27582	0.491000	0.48974	GCT		PASS	0.662	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	27	4	27	---	---	---	---
ARSH	347527	broad.mit.edu	37	X	2945446	2945446	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:2945446G>A	ENST00000381130.2	+	7	1129	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	377					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)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.E377K(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGTGATCAATGAGCCCACCAG	0.527																																						uc011mhj.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1129-1131)GAG>AAG		arylsulfatase family, member H							189.0	143.0	159.0					X																	2945446		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2945446G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1129G>A	X.37:g.2945446G>A	ENSP00000370522:p.Glu377Lys						p.E377K	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			7	1129	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	377						Missense_Mutation	SNP	ENST00000381130.2	37	c.1129G>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883406	0.51908	.	.	ENSG00000205667	ENST00000381130	D	0.98666	-5.06	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.057929	0.64402	U	0.000003	D	0.98943	0.9641	M	0.83692	2.655	0.47547	D	0.99945	D	0.64830	0.994	D	0.68192	0.956	D	0.99026	1.0819	10	0.46703	T	0.11	.	14.2922	0.66286	0.0:0.0:1.0:0.0	.	377	Q5FYA8	ARSH_HUMAN	K	377	ENSP00000370522:E377K	ENSP00000370522:E377K	E	+	1	0	ARSH	2955446	1.000000	0.71417	0.006000	0.13384	0.005000	0.04900	3.922000	0.56462	1.328000	0.45358	0.596000	0.82720	GAG		PASS	0.527	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		5	144	5	144	---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337594	13337594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:13337594G>A	ENST00000380622.2	-	1	924	c.460C>T	c.(460-462)Cga>Tga	p.R154*	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	154	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.R154*(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTTGTAATCGAGCCAAGAAA	0.398																																						uc010ned.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(460-462)CGA>TGA		ataxin 3-like							67.0	62.0	63.0					X																	13337594		1568	3582	5150	SO:0001587	stop_gained	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337594G>A		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.460C>T	X.37:g.13337594G>A	ENSP00000369996:p.Arg154*						p.R154*	NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN			1	925	-			154			Josephin.		B2RNY8	Nonsense_Mutation	SNP	ENST00000380622.2	37	c.460C>T	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.662439	0.88251	.	.	ENSG00000123594	ENST00000380622	.	.	.	0.661	-1.32	0.09201	.	0.158522	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	2.877	0.05634	0.2105:0.0:0.5294:0.26	.	.	.	.	X	154	.	ENSP00000369996:R154X	R	-	1	2	ATXN3L	13247515	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.219000	0.42899	-1.058000	0.03197	-1.746000	0.00682	CGA		PASS	0.398	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		9	81	9	81	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17744705	17744705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:17744705C>T	ENST00000380060.3	+	6	2754	c.2416C>T	c.(2416-2418)Cag>Tag	p.Q806*	NHS_ENST00000398097.3_Nonsense_Mutation_p.Q650*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	827					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Q806*(1)|p.Q650*(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TTGTGCCTGGCAGGACTACTT	0.522																																						uc004cxx.2																			2	Substitution - Nonsense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2416-2418)CAG>TAG		Nance-Horan syndrome protein isoform 1							105.0	102.0	103.0					X																	17744705		2203	4300	6503	SO:0001587	stop_gained	4810					nucleus		g.chrX:17744705C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2416C>T	X.37:g.17744705C>T	ENSP00000369400:p.Gln806*					NHS_uc011mix.1_Nonsense_Mutation_p.Q827*|NHS_uc004cxy.2_Nonsense_Mutation_p.Q650*|NHS_uc004cxz.2_Nonsense_Mutation_p.Q629*|NHS_uc004cya.2_Nonsense_Mutation_p.Q529*	p.Q806*	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	2754	+	Hepatocellular(33;0.183)		806					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	c.2416C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	42	9.276306	0.99122	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.93	5.93	0.95920	.	0.290587	0.34291	N	0.004093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-4.7544	19.2927	0.94108	0.0:1.0:0.0:0.0	.	.	.	.	X	806;650;648	.	ENSP00000369397:Q648X	Q	+	1	0	NHS	17654626	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.230000	0.65321	2.509000	0.84616	0.538000	0.68166	CAG		PASS	0.522	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		8	276	8	276	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18775754	18775754	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:18775754G>A	ENST00000361511.4	+	8	900	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	PPEF1_ENST00000544635.1_Missense_Mutation_p.A71T|PPEF1_ENST00000543630.1_Missense_Mutation_p.A136T|PPEF1_ENST00000349874.5_Missense_Mutation_p.A136T|PPEF1_ENST00000359763.6_Missense_Mutation_p.A83T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	136	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.A136T(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GATACTTCATGCCCATTATGT	0.413																																						uc004cyq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)GCC>ACC		protein phosphatase with EF hand calcium-binding							232.0	224.0	227.0					X																	18775754		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18775754G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.406G>A	X.37:g.18775754G>A	ENSP00000354871:p.Ala136Thr					PPEF1_uc004cyp.2_Missense_Mutation_p.A136T|PPEF1_uc004cyr.2_Missense_Mutation_p.A136T|PPEF1_uc004cys.2_Missense_Mutation_p.A136T|PPEF1_uc011mja.1_Missense_Mutation_p.A71T|PPEF1_uc011mjb.1_Missense_Mutation_p.A80T	p.A136T	NM_006240	NP_006231	O14829	PPE1_HUMAN			8	887	+	Hepatocellular(33;0.183)		136			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.406G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108535	0.77096	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000472826;ENST00000544635	T;T;T;T;T;T	0.41758	0.99;3.36;0.99;0.99;0.99;0.99	4.76	4.76	0.60689	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Serine/threonine phosphatase, PPP5 (1);	0.526112	0.17905	N	0.158069	T	0.59293	0.2183	M	0.75615	2.305	0.39065	D	0.960597	D;D;D	0.76494	0.999;0.962;0.973	D;P;P	0.69479	0.964;0.85;0.71	T	0.57289	-0.7837	10	0.16896	T	0.51	-18.6718	11.9988	0.53219	0.0:0.0:1.0:0.0	.	136;136;136	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	T	136;83;136;136;46;71	ENSP00000354871:A136T;ENSP00000352806:A83T;ENSP00000341892:A136T;ENSP00000437785:A136T;ENSP00000419948:A46T;ENSP00000441289:A71T	ENSP00000341892:A136T	A	+	1	0	PPEF1	18685675	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	3.407000	0.52644	2.218000	0.71995	0.523000	0.50628	GCC		PASS	0.413	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		9	391	9	391	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27998586	27998586	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:27998586G>A	ENST00000441525.1	-	1	980	c.866C>T	c.(865-867)gCc>gTc	p.A289V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	289								p.A289V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAACTCGTGGGCAGGTCCCCT	0.527																																						uc004dbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(865-867)GCC>GTC		DDB1 and CUL4 associated factor 8-like 1							82.0	71.0	75.0					X																	27998586		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998586G>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.866C>T	X.37:g.27998586G>A	ENSP00000405222:p.Ala289Val						p.A289V	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	981	-			289			WD 3.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.866C>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641828	0.67244	.	.	ENSG00000226372	ENST00000441525	T	0.73363	-0.74	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.134270	0.50627	D	0.000115	T	0.64505	0.2604	L	0.41573	1.285	0.35185	D	0.772823	P	0.45672	0.864	P	0.50791	0.65	T	0.67321	-0.5700	10	0.02654	T	1	-3.1395	7.2758	0.26283	1.0E-4:0.0:0.9999:0.0	.	289	A6NGE4	DC8L1_HUMAN	V	289	ENSP00000405222:A289V	ENSP00000405222:A289V	A	-	2	0	DCAF8L1	27908507	0.213000	0.23551	0.565000	0.28409	0.222000	0.24845	2.192000	0.42649	0.691000	0.31592	0.284000	0.19432	GCC		PASS	0.527	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		8	114	8	114	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37027835	37027835	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:37027835G>C	ENST00000358047.3	+	1	1404	c.1352G>C	c.(1351-1353)cGc>cCc	p.R451P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	451								p.R451P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.617																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1351-1353)CGC>CCC		hypothetical protein LOC442444							64.0	62.0	63.0					X																	37027835		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027835G>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1352G>C	X.37:g.37027835G>C	ENSP00000367913:p.Arg451Pro						p.R451P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1366	+			451					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1352G>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	8.030	0.761609	0.15914	.	.	ENSG00000198173	ENST00000358047	T	0.21191	2.02	1.46	-2.93	0.05598	.	.	.	.	.	T	0.13756	0.0333	L	0.43923	1.385	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.33497	-0.9866	9	0.28530	T	0.3	.	4.2486	0.10684	0.2229:0.53:0.2471:0.0	.	451	Q5HY64	FA47C_HUMAN	P	451	ENSP00000367913:R451P	ENSP00000367913:R451P	R	+	2	0	FAM47C	36937756	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.427000	0.02441	-0.353000	0.08224	-0.527000	0.04329	CGC		PASS	0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		16	103	16	103	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37913575	37913575	+	Silent	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:37913575C>A	ENST00000357972.5	+	3	775	c.229C>A	c.(229-231)Cgg>Agg	p.R77R	SYTL5_ENST00000297875.2_Silent_p.R77R|SYTL5_ENST00000456733.2_Silent_p.R77R|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	77	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R77R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AATCTTTGACCGGGGAGACCC	0.507																																						uc004ddu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(229-231)CGG>AGG		synaptotagmin-like 5 isoform 1							96.0	83.0	87.0					X																	37913575		2202	4300	6502	SO:0001819	synonymous_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37913575C>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.229C>A	X.37:g.37913575C>A						SYTL5_uc004ddv.2_Silent_p.R77R|SYTL5_uc004ddx.2_Silent_p.R77R	p.R77R	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			4	763	+			77			FYVE-type.|RabBD.		A2RRF2	Silent	SNP	ENST00000357972.5	37	c.229C>A	CCDS14244.1																																																																																				PASS	0.507	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		16	115	16	115	---	---	---	---
ARAF	369	broad.mit.edu	37	X	47426043	47426043	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:47426043G>A	ENST00000377045.4	+	7	757	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	188					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.R188H(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCAGCCCCCGCACCCAGCAC	0.622													G|||	1	0.000264901	0.0	0.0	3775	,	,		10037	0.001		0.0	False		,,,				2504	0.0					uc011mlq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|ovary(1)|skin(1)	7						c.(562-564)CGC>CAC		v-raf murine sarcoma 3611 viral oncogene	Adenosine triphosphate(DB00171)						28.0	25.0	26.0					X																	47426043		2202	4299	6501	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47426043G>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.563G>A	X.37:g.47426043G>A	ENSP00000366244:p.Arg188His					ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.R54H|ARAF_uc011mlp.1_Missense_Mutation_p.R188H|ARAF_uc004dic.1_5'UTR	p.R188H	NM_001654	NP_001645	P10398	ARAF_HUMAN			7	696	+			188					P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.563G>A	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341094	0.01277	.	.	ENSG00000078061	ENST00000377045	T	0.74421	-0.84	5.37	2.02	0.26589	.	1.428110	0.03652	N	0.241251	T	0.59729	0.2215	N	0.22421	0.69	0.09310	N	0.999999	P;B	0.34629	0.46;0.0	B;B	0.26517	0.07;0.001	T	0.47209	-0.9135	10	0.29301	T	0.29	.	8.5422	0.33399	0.1819:0.0:0.6845:0.1336	.	188;54	P10398;B4DV85	ARAF_HUMAN;.	H	188	ENSP00000366244:R188H	ENSP00000366244:R188H	R	+	2	0	ARAF	47310987	0.896000	0.30565	0.181000	0.23098	0.004000	0.04260	2.153000	0.42282	0.100000	0.17581	-1.195000	0.01675	CGC		PASS	0.622	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			4	32	4	32	---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51640678	51640678	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:51640678G>A	ENST00000375722.1	+	6	1774	c.1522G>A	c.(1522-1524)Gtt>Att	p.V508I	MAGED1_ENST00000375695.2_Missense_Mutation_p.V564I|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.V508I|MAGED1_ENST00000326587.7_Missense_Mutation_p.V508I			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	508	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.V564I(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ATACACTGATGTTTATCCAGA	0.493										Multiple Myeloma(10;0.10)																												uc004dpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1522-1524)GTT>ATT		melanoma antigen family D, 1 isoform b							97.0	85.0	89.0					X																	51640678		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640678G>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1522G>A	X.37:g.51640678G>A	ENSP00000364874:p.Val508Ile	Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.V564I|MAGED1_uc004dpo.2_Missense_Mutation_p.V508I	p.V508I	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			6	1617	+	Ovarian(276;0.236)		508			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1522G>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	9.871	1.199054	0.22121	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	3.45	3.45	0.39498	.	0.000000	0.32444	N	0.006094	T	0.02807	0.0084	N	0.16307	0.4	0.30943	N	0.725647	P;B	0.39665	0.682;0.241	B;B	0.37451	0.224;0.25	T	0.27938	-1.0059	10	0.26408	T	0.33	.	5.932	0.19144	0.1432:0.0:0.8568:0.0	.	564;508	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	I	508;508;508;564	ENSP00000364927:V508I;ENSP00000364874:V508I;ENSP00000325333:V508I;ENSP00000364847:V564I	ENSP00000325333:V508I	V	+	1	0	MAGED1	51657418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.047000	0.41269	1.986000	0.57962	0.506000	0.49869	GTT		PASS	0.493	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		22	124	22	124	---	---	---	---
HSD17B10	3028	broad.mit.edu	37	X	53459056	53459056	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:53459056G>A	ENST00000168216.6	-	4	393	c.366C>T	c.(364-366)ctC>ctT	p.L122L	HSD17B10_ENST00000375304.5_Silent_p.L122L|HSD17B10_ENST00000375298.4_Silent_p.L122L|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	122			L -> V (in MHBD deficiency; dbSNP:rs28935476). {ECO:0000269|PubMed:12696021}.		branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)	p.L122L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						AGGTGCCCATGAGATTCACCT	0.537																																						uc004dsl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)CTC>CTT		hydroxysteroid (17-beta) dehydrogenase 10	NADH(DB00157)						89.0	74.0	79.0					X																	53459056		2203	4300	6503	SO:0001819	synonymous_variant	3028				branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity	g.chrX:53459056G>A	U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.366C>T	X.37:g.53459056G>A						HSD17B10_uc004dsm.1_Silent_p.L122L	p.L122L	NM_004493	NP_004484	Q99714	HCD2_HUMAN			4	397	-			122					Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	ENST00000168216.6	37	c.366C>T	CCDS14354.1																																																																																				PASS	0.537	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493		10	124	10	124	---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54476175	54476175	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:54476175G>T	ENST00000375135.3	-	14	2798	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	689	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L689M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCATGCTTCAGGAGGGTGGAG	0.517																																						uc004dtg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2065-2067)CTG>ATG		faciogenital dysplasia protein							128.0	121.0	123.0					X																	54476175		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54476175G>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2065C>A	X.37:g.54476175G>T	ENSP00000364277:p.Leu689Met					FGD1_uc011moi.1_Missense_Mutation_p.L447M	p.L689M	NM_004463	NP_004454	P98174	FGD1_HUMAN			14	2799	-			689			PH 1.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2065C>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	g	6.297	0.422990	0.11928	.	.	ENSG00000102302	ENST00000375135	D	0.88277	-2.36	5.56	2.75	0.32379	Pleckstrin homology-type (1);Pleckstrin homology domain (2);Zinc finger, FYVE/PHD-type (1);	0.182461	0.26742	N	0.022723	T	0.78207	0.4247	N	0.14661	0.345	0.21740	N	0.999566	B;B	0.16802	0.007;0.019	B;B	0.23716	0.017;0.048	T	0.67929	-0.5543	10	0.54805	T	0.06	-18.0933	7.4327	0.27137	0.0784:0.0:0.5045:0.4171	.	447;689	B4DS99;P98174	.;FGD1_HUMAN	M	689	ENSP00000364277:L689M	ENSP00000364277:L689M	L	-	1	2	FGD1	54492900	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	1.465000	0.35299	0.537000	0.28751	-0.274000	0.10170	CTG		PASS	0.517	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		8	130	8	130	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54954175	54954175	+	Silent	SNP	C	C	T	rs374166648		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:54954175C>T	ENST00000173898.7	+	11	1951	c.1839C>T	c.(1837-1839)caC>caT	p.H613H	TRO_ENST00000319167.8_Silent_p.H613H|TRO_ENST00000375022.4_Silent_p.H613H|TRO_ENST00000375041.2_Silent_p.H216H|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.H144H|TRO_ENST00000399736.1_Silent_p.H216H	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	613	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.H613H(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTCCTACCACGAGACTAGCA	0.502																																						uc004dtq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1837-1839)CAC>CAT		trophinin isoform 5		C	,,	0,3829		0,0,1629,571	59.0	57.0	58.0		1839,1839,1839	1.9	1.0	X		58	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	TRO	NM_001039705.1,NM_016157.2,NM_177556.1	,,	0,1,4056,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,,	613/1432,613/707,613/707	54954175	1,10556	2200	4300	6500	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54954175C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1839C>T	X.37:g.54954175C>T						TRO_uc004dts.2_Silent_p.H613H|TRO_uc004dtr.2_Silent_p.H613H|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Silent_p.H216H|TRO_uc011mok.1_Silent_p.H144H|TRO_uc004dtw.2_Silent_p.H216H|TRO_uc004dtx.2_Translation_Start_Site	p.H613H	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			11	1946	+			613			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.1839C>T	CCDS43959.1																																																																																				PASS	0.502	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	72	4	72	---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060194	68060194	+	Silent	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:68060194C>T	ENST00000204961.4	+	5	1518	c.738C>T	c.(736-738)gcC>gcT	p.A246A		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	246					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.A246A(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CTGTCGGTGCCGGTTGCGTCA	0.612																																						uc004dxd.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(736-738)GCC>GCT		ephrin-B1 precursor							55.0	56.0	55.0					X																	68060194		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060194C>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.738C>T	X.37:g.68060194C>T						EFNB1_uc004dxe.2_Silent_p.A246A	p.A246A	NM_004429	NP_004420	P98172	EFNB1_HUMAN			5	1518	+			246			Helical; (Potential).		D3DVU0	Silent	SNP	ENST00000204961.4	37	c.738C>T	CCDS14391.1																																																																																				PASS	0.612	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		8	41	8	41	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83723684	83723684	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:83723684C>T	ENST00000297977.5	-	3	1158	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	HDX_ENST00000373177.2_Missense_Mutation_p.M349I|HDX_ENST00000506585.2_Missense_Mutation_p.M291I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	349						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M349I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTGAATTTGGCATATTTCTTC	0.408																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1045-1047)ATG>ATA		highly divergent homeobox							124.0	105.0	111.0					X																	83723684		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723684C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1047G>A	X.37:g.83723684C>T	ENSP00000297977:p.Met349Ile					HDX_uc011mqv.1_Missense_Mutation_p.M349I|HDX_uc004eel.1_Missense_Mutation_p.M291I	p.M349I	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	1156	-			349					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1047G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.910567	0.00508	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.28454	1.61;1.61;1.61	5.53	3.77	0.43336	.	0.734866	0.13928	N	0.353075	T	0.21307	0.0513	L	0.36672	1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31308	-0.9948	10	0.15499	T	0.54	-14.6079	7.4533	0.27250	0.0:0.7114:0.1346:0.154	.	349	Q7Z353	HDX_HUMAN	I	349;291;349	ENSP00000297977:M349I;ENSP00000362272:M291I;ENSP00000423670:M349I	ENSP00000297977:M349I	M	-	3	0	HDX	83610340	0.994000	0.37717	0.967000	0.41034	0.381000	0.30169	0.595000	0.24029	0.522000	0.28464	0.415000	0.27848	ATG		PASS	0.408	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		8	117	8	117	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102005284	102005284	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:102005284C>G	ENST00000372735.1	+	4	1946	c.1361C>G	c.(1360-1362)tCc>tGc	p.S454C	BHLHB9_ENST00000361229.4_Missense_Mutation_p.S454C|BHLHB9_ENST00000447531.1_Missense_Mutation_p.S454C|BHLHB9_ENST00000448867.1_Missense_Mutation_p.S454C|BHLHB9_ENST00000457056.1_Missense_Mutation_p.S454C			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	454					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S454C(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATTTGCTGTCCTCAGGAAAT	0.368																																						uc010nog.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1360-1362)TCC>TGC		basic helix-loop-helix domain containing, class							73.0	75.0	74.0					X																	102005284		2202	4300	6502	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005284C>G	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1361C>G	X.37:g.102005284C>G	ENSP00000361820:p.Ser454Cys					BHLHB9_uc011mrq.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrr.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrs.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrt.1_Missense_Mutation_p.S454C|BHLHB9_uc004ejo.2_Missense_Mutation_p.S454C|BHLHB9_uc011mru.1_Missense_Mutation_p.S454C|BHLHB9_uc011mrv.1_Missense_Mutation_p.S454C	p.S454C	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1932	+			454					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1361C>G	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	1.241	-0.621433	0.03636	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	4.34	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.160493	0.29980	N	0.010709	T	0.21590	0.0520	L	0.29908	0.895	0.09310	N	1	B	0.25312	0.123	B	0.30105	0.111	T	0.17653	-1.0362	9	.	.	.	-14.0303	9.2111	0.37320	0.0:0.7857:0.2143:0.0	.	454	Q6PI77	BHLH9_HUMAN	C	454	ENSP00000403226:S454C;ENSP00000354675:S454C;ENSP00000405893:S454C;ENSP00000391722:S454C;ENSP00000361820:S454C	.	S	+	2	0	BHLHB9	101891940	0.018000	0.18449	0.006000	0.13384	0.034000	0.12701	1.507000	0.35758	1.155000	0.42497	0.422000	0.28245	TCC		PASS	0.368	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		19	159	19	159	---	---	---	---
PIH1D3	139212	broad.mit.edu	37	X	106462113	106462113	+	Silent	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:106462113G>A	ENST00000372453.3	+	4	308	c.246G>A	c.(244-246)gaG>gaA	p.E82E	PIH1D3_ENST00000336387.4_Silent_p.E82E|PIH1D3_ENST00000535523.1_Silent_p.E82E	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	82								p.E82E(1)									AAACCAGCGAGGAAAATAATG	0.398																																						uc004enc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)GAG>GAA		hypothetical protein LOC139212							85.0	79.0	81.0					X																	106462113		2203	4300	6503	SO:0001819	synonymous_variant	139212							g.chrX:106462113G>A	AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.246G>A	X.37:g.106462113G>A						CXorf41_uc004end.2_Silent_p.E82E	p.E82E	NM_173494	NP_775765	Q9NQM4	CX041_HUMAN			4	308	+			82					D3DUX5|Q86WE1	Silent	SNP	ENST00000372453.3	37	c.246G>A	CCDS14528.1																																																																																				PASS	0.398	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057832.1	NM_173494		3	60	3	60	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195610	111195610	+	Silent	SNP	C	C	T	rs150908311	byFrequency	TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:111195610C>T	ENST00000262839.2	-	2	957	c.39G>A	c.(37-39)ccG>ccA	p.P13P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	13					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.P13P(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTCTCTGTACGGTGAGTAGT	0.483													C|||	14	0.00370861	0.0	0.0029	3775	,	,		14672	0.001		0.0099	False		,,,				2504	0.001					uc004epl.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(37-39)CCG>CCA		transient receptor potential cation channel,		C		6,3829		0,6,0,1626,571	83.0	69.0	74.0		39	-7.9	0.9	X	dbSNP_134	74	40,6688		0,26,14,2402,1858	no	coding-synonymous	TRPC5	NM_012471.2		0,32,14,4028,2429	TT,TC,T,CC,C		0.5945,0.1565,0.4355		13/974	111195610	46,10517	2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195610C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.39G>A	X.37:g.111195610C>T						TRPC5_uc004epm.1_Silent_p.P13P	p.P13P	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	958	-			13			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.39G>A	CCDS14561.1																																																																																				PASS	0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		6	122	6	122	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119680457	119680457	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:119680457C>A	ENST00000404115.3	-	6	1246	c.845G>T	c.(844-846)aGc>aTc	p.S282I	CUL4B_ENST00000336592.6_Missense_Mutation_p.S269I|CUL4B_ENST00000371322.5_Missense_Mutation_p.S264I|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	282					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S264I(1)|p.S282I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAAAGAACGCTATCCAATGA	0.333																																						uc004esw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(844-846)AGC>ATC		cullin 4B isoform 1							67.0	61.0	63.0					X																	119680457		2202	4298	6500	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119680457C>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.845G>T	X.37:g.119680457C>A	ENSP00000384109:p.Ser282Ile					CUL4B_uc010nqq.2_5'UTR|CUL4B_uc004esv.2_Missense_Mutation_p.S264I	p.S282I	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			6	1282	-			282					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.845G>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010518	0.75046	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.43	5.43	0.79202	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	4.911050	0.00567	N	0.000292	D	0.88702	0.6508	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.55605	0.972;0.965	P;P	0.52710	0.707;0.583	T	0.76305	-0.3008	9	.	.	.	8.3619	17.1767	0.86843	0.0:1.0:0.0:0.0	.	282;264	Q13620;Q13620-1	CUL4B_HUMAN;.	I	264;269;282;86	ENSP00000360373:S264I;ENSP00000338919:S269I;ENSP00000384109:S282I;ENSP00000360374:S86I	.	S	-	2	0	CUL4B	119564485	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.953000	0.70290	2.267000	0.75376	0.594000	0.82650	AGC		PASS	0.333	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		6	54	6	54	---	---	---	---
XIAP	331	broad.mit.edu	37	X	123019782	123019782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:123019782C>A	ENST00000371199.3	+	2	569	c.270C>A	c.(268-270)tgC>tgA	p.C90*	XIAP_ENST00000355640.3_Nonsense_Mutation_p.C90*|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Nonsense_Mutation_p.C90*	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	90					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C90*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CCCCAAATTGCAGATTTATCA	0.423									X-linked Lymphoproliferative syndrome																													uc010nqu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(268-270)TGC>TGA		baculoviral IAP repeat-containing protein 4							73.0	69.0	70.0					X																	123019782		2203	4300	6503	SO:0001587	stop_gained	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019782C>A	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.270C>A	X.37:g.123019782C>A	ENSP00000360242:p.Cys90*					XIAP_uc004etx.2_Nonsense_Mutation_p.C90*|XIAP_uc010nqv.2_Intron	p.C90*	NM_001167	NP_001158	P98170	XIAP_HUMAN			2	396	+			90			BIR 1.		D3DTF2|Q9NQ14	Nonsense_Mutation	SNP	ENST00000371199.3	37	c.270C>A	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293512	0.80914	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.1089	12.3741	0.55271	0.0:0.9214:0.0:0.0786	.	.	.	.	X	90	.	.	C	+	3	2	XIAP	122847463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.451000	0.35145	2.429000	0.82318	0.508000	0.49915	TGC		PASS	0.423	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		21	131	21	131	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	124097472	124097472	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:124097472T>C	ENST00000371130.3	-	1	194	c.131A>G	c.(130-132)gAg>gGg	p.E44G	TENM1_ENST00000422452.2_Missense_Mutation_p.E44G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	44	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E44G(1)									GTGCAGGGTCTCCCTGGAGTT	0.408																																						uc004euj.2																			1	Substitution - Missense(1)	p.E44K(1)	lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(130-132)GAG>GGG		odz, odd Oz/ten-m homolog 1 isoform 3							306.0	280.0	289.0					X																	124097472		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124097472T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.131A>G	X.37:g.124097472T>C	ENSP00000360171:p.Glu44Gly					ODZ1_uc011muj.1_Missense_Mutation_p.E44G|ODZ1_uc010nqy.2_Missense_Mutation_p.E44G	p.E44G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			1	195	-			44			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.131A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954249	0.73902	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.42900	0.96;0.96	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.60353	0.2262	L	0.55990	1.75	0.58432	D	0.999994	D;D;B	0.76494	0.999;0.999;0.433	D;D;B	0.81914	0.995;0.995;0.23	T	0.63097	-0.6713	10	0.72032	D	0.01	.	15.0274	0.71680	0.0:0.0:0.0:1.0	.	44;44;44	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	44	ENSP00000360171:E44G;ENSP00000403954:E44G	ENSP00000360171:E44G	E	-	2	0	ODZ1	123925153	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.424000	0.80242	1.931000	0.55961	0.486000	0.48141	GAG		PASS	0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		8	487	8	487	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128674794	128674794	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:128674794A>T	ENST00000371113.4	+	2	278	c.113A>T	c.(112-114)cAa>cTa	p.Q38L	OCRL_ENST00000357121.5_Missense_Mutation_p.Q38L|OCRL_ENST00000486673.1_Intron	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	38	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.Q38L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGAACGGGCAATATGAGTAA	0.597																																						uc004euq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(112-114)CAA>CTA		phosphatidylinositol polyphosphate 5-phosphatase							60.0	63.0	62.0					X																	128674794		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128674794A>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.113A>T	X.37:g.128674794A>T	ENSP00000360154:p.Gln38Leu					OCRL_uc004eur.2_Missense_Mutation_p.Q38L	p.Q38L	NM_000276	NP_000267	Q01968	OCRL_HUMAN			2	278	+			38					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.113A>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326075	0.60743	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94613	-3.47;-3.47	4.56	4.56	0.56223	.	0.898588	0.09714	N	0.765291	D	0.89068	0.6610	N	0.17082	0.46	0.47511	D	0.999443	B;B	0.11235	0.004;0.002	B;B	0.12837	0.008;0.006	T	0.83017	-0.0169	10	0.62326	D	0.03	.	9.1354	0.36870	1.0:0.0:0.0:0.0	.	38;38	Q01968-2;Q01968	.;OCRL_HUMAN	L	38	ENSP00000360154:Q38L;ENSP00000349635:Q38L	ENSP00000349635:Q38L	Q	+	2	0	OCRL	128502475	0.996000	0.38824	0.995000	0.50966	0.996000	0.88848	2.780000	0.47742	1.674000	0.50907	0.417000	0.27973	CAA		PASS	0.597	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		12	105	12	105	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130220305	130220305	+	Silent	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:130220305G>T	ENST00000276211.5	+	10	1629	c.1284G>T	c.(1282-1284)gtG>gtT	p.V428V	ARHGAP36_ENST00000370921.1_Silent_p.V292V|ARHGAP36_ENST00000370922.1_Silent_p.V416V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	428					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V428V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACCCTCAGGTGCCTCCCCATA	0.483																																						uc004evz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1282-1284)GTG>GTT		hypothetical protein LOC158763 precursor							96.0	86.0	90.0					X																	130220305		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220305G>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1284G>T	X.37:g.130220305G>T						ARHGAP36_uc004ewa.2_Silent_p.V416V|ARHGAP36_uc004ewb.2_Silent_p.V397V|ARHGAP36_uc004ewc.2_Silent_p.V292V	p.V428V	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			10	1629	+			428					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.1284G>T	CCDS14628.1																																																																																				PASS	0.483	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		7	78	7	78	---	---	---	---
EMD	2010	broad.mit.edu	37	X	153609143	153609143	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:153609143G>A	ENST00000369842.4	+	5	718	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Missense_Mutation_p.E109K	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	144	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)	p.E144K(1)		lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCTTCTTCTGAAGAGGAGTG	0.612																																						uc004fkl.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM983737	EMD	M		c.(430-432)GAA>AAA		emerin							87.0	83.0	84.0					X																	153609143		2203	4300	6503	SO:0001583	missense	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153609143G>A	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.430G>A	X.37:g.153609143G>A	ENSP00000358857:p.Glu144Lys						p.E144K	NM_000117	NP_000108	P50402	EMD_HUMAN			5	678	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		144			Interaction with F-actin (Probable).		Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	c.430G>A	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478407	0.26511	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	D;D	0.86366	-1.69;-2.11	4.53	4.53	0.55603	.	0.423279	0.26103	N	0.026323	T	0.80465	0.4628	L	0.29908	0.895	0.35515	D	0.800979	P	0.47409	0.895	B	0.42030	0.373	D	0.86122	0.1569	10	0.59425	D	0.04	-9.9451	11.6869	0.51492	0.0:0.0:1.0:0.0	.	144	P50402	EMD_HUMAN	K	144;109	ENSP00000358857:E144K;ENSP00000358850:E109K	ENSP00000358850:E109K	E	+	1	0	EMD	153262337	0.980000	0.34600	0.851000	0.33527	0.024000	0.10985	2.748000	0.47483	2.240000	0.73641	0.436000	0.28706	GAA		PASS	0.612	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			18	204	18	204	---	---	---	---
EMD	2010	broad.mit.edu	37	X	153609540	153609540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chrX:153609540G>T	ENST00000369842.4	+	6	1036	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Nonsense_Mutation_p.E215*	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	250					cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)	p.E250*(1)		lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGCTGAAGAAGGCAACCC	0.592																																						uc004fkl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(748-750)GAA>TAA		emerin							37.0	35.0	36.0					X																	153609540		2198	4297	6495	SO:0001587	stop_gained	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153609540G>T	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.748G>T	X.37:g.153609540G>T	ENSP00000358857:p.Glu250*						p.E250*	NM_000117	NP_000108	P50402	EMD_HUMAN			6	996	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		250					Q6FI02	Nonsense_Mutation	SNP	ENST00000369842.4	37	c.748G>T	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031454	0.75504	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	.	.	.	5.08	5.08	0.68730	.	0.179045	0.47852	D	0.000202	.	.	.	.	.	.	0.37020	D	0.896174	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.7862	13.1458	0.59461	0.0:0.0:1.0:0.0	.	.	.	.	X	250;215	.	ENSP00000358850:E215X	E	+	1	0	EMD	153262734	0.925000	0.31364	0.176000	0.23000	0.017000	0.09413	2.762000	0.47597	2.253000	0.74438	0.513000	0.50165	GAA		PASS	0.592	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			9	79	9	79	---	---	---	---
NPIPB5	100132247	broad.mit.edu	37	16	22545666	22545684	+	Frame_Shift_Del	DEL	TGAGCGTCTGCGGGGGCCG	TGAGCGTCTGCGGGGGCCG	-	rs199969935|rs535232087		TCGA-39-5030-01A-01D-1441-08	TCGA-39-5030-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e7b63f2-6080-4bb0-b45d-a0d40dffcbe0	b8840076-c0a1-469e-ac61-efbf06758422	g.chr16:22545666_22545684delTGAGCGTCTGCGGGGGCCG	ENST00000517539.1	+	8	1437_1455	c.1362_1380delTGAGCGTCTGCGGGGGCCG	c.(1360-1380)gctgagcgtctgcgggggccgfs	p.AERLRGP454fs	NPIPB5_ENST00000424340.1_Frame_Shift_Del_p.AERLRGP454fs|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	454	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCTGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.557																																						uc010bxg.2																			0					0						c.(1360-1380)GCTGAGCGTCTGCGGGGGCCGfs		hypothetical protein LOC100132247				73,281		35,3,139							0.0			1	9,651		4,1,325	no	frameshift	LOC100132247	NM_001135865.1		39,4,464	A1A1,A1R,RR		1.3636,20.6215,8.0868				82,932				SO:0001589	frameshift_variant	100132247					integral to membrane		g.chr16:22545666_22545684delTGAGCGTCTGCGGGGGCCG		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1362_1380delTGAGCGTCTGCGGGGGCCG	16.37:g.22545666_22545684delTGAGCGTCTGCGGGGGCCG	ENSP00000430633:p.Ala454fs					LOC100132247_uc010vbv.1_Frame_Shift_Del_p.A454fs|LOC100132247_uc010vbw.1_Frame_Shift_Del_p.A454fs|LOC100132247_uc010bxi.2_Frame_Shift_Del_p.A435fs|LOC100132247_uc010bxk.2_Frame_Shift_Del_p.A271fs	p.A454fs	NM_001135865	NP_001129337	A8MRT5	K220L_HUMAN			9	1544_1562	+			454_460			Pro-rich.		B4DK13	Frame_Shift_Del	DEL	ENST00000517539.1	37	c.1362_1380delTGAGCGTCTGCGGGGGCCG	CCDS45443.1																																																																																					0.557	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	4	3	4	---	---	---	---
