#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	3334552	3334552	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:3334552A>G	ENST00000270722.5	+	11	2901	c.2852A>G	c.(2851-2853)tAc>tGc	p.Y951C	PRDM16_ENST00000378398.3_Missense_Mutation_p.Y951C|PRDM16_ENST00000378391.2_Missense_Mutation_p.Y951C|PRDM16_ENST00000442529.2_Missense_Mutation_p.Y950C|PRDM16_ENST00000511072.1_Missense_Mutation_p.Y952C|PRDM16_ENST00000514189.1_Missense_Mutation_p.Y951C|PRDM16_ENST00000441472.2_Missense_Mutation_p.Y950C|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	951	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				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.Y950C(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)		AAGGAGCGATACACGTGCAGG	0.652			T	EVI1	"""MDS, AML"""																																	uc001akf.2				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2851-2853)TAC>TGC		PR domain containing 16 isoform 1							23.0	26.0	25.0					1																	3334552		1963	4148	6111	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3334552A>G	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.2852A>G	1.37:g.3334552A>G	ENSP00000270722:p.Tyr951Cys					PRDM16_uc001akc.2_Missense_Mutation_p.Y950C|PRDM16_uc001akd.2_Missense_Mutation_p.Y950C|PRDM16_uc001ake.2_Missense_Mutation_p.Y951C|PRDM16_uc009vlh.2_Missense_Mutation_p.Y651C	p.Y951C	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)	11	2932	+	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)	951			Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2852A>G	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961355	0.74016	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.142732	0.31199	N	0.008076	T	0.79747	0.4499	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.85130	0.997;0.978;0.979;0.95	T	0.82438	-0.0457	10	0.87932	D	0	.	14.3452	0.66658	1.0:0.0:0.0:0.0	.	951;951;950;950	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	C	952;951;950;950;951;951;951;767;767;759	ENSP00000426975:Y952C;ENSP00000367651:Y951C;ENSP00000407968:Y950C;ENSP00000405253:Y950C;ENSP00000367643:Y951C;ENSP00000421400:Y951C;ENSP00000270722:Y951C;ENSP00000422504:Y767C;ENSP00000425796:Y759C	ENSP00000270722:Y951C	Y	+	2	0	PRDM16	3324412	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	8.811000	0.91954	1.871000	0.54225	0.460000	0.39030	TAC		PASS	0.652	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		18	13	18	13	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38409499	38409499	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:38409499C>A	ENST00000373026.1	-	3	219	c.219G>T	c.(217-219)gtG>gtT	p.V73V	INPP5B_ENST00000373024.3_Silent_p.V73V|INPP5B_ENST00000373023.2_Silent_p.V73V|INPP5B_ENST00000373021.1_Silent_p.V73V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	73	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.V73V(1)|p.V110V(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)				GCGAGACTGGCACTATCTGGT	0.582																																						uc001ccg.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)	1						c.(217-219)GTG>GTT		inositol polyphosphate-5-phosphatase, 75kDa							95.0	93.0	94.0					1																	38409499		1957	4155	6112	SO:0001819	synonymous_variant	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.chr1:38409499C>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.219G>T	1.37:g.38409499C>A						INPP5B_uc009vvk.1_Silent_p.V14V|INPP5B_uc001cch.2_Silent_p.V14V	p.V73V	NM_005540	NP_005531	P32019	I5P2_HUMAN			4	313	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	73					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.219G>T																																																																																					PASS	0.582	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		51	23	51	23	---	---	---	---
CFAP57	149465	broad.mit.edu	37	1	43665131	43665131	+	Missense_Mutation	SNP	C	C	T	rs376583075		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:43665131C>T	ENST00000372492.4	+	9	1823	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	WDR65_ENST00000528956.1_Missense_Mutation_p.T500M|RNA5SP46_ENST00000362370.1_RNA	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		500								p.T500M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACACCACCACGAGCCTAGAG	0.498																																						uc001cip.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1498-1500)ACG>ATG		WD repeat domain 65		C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	236.0	185.0	202.0		1499,1499,1499	5.4	1.0	1		202	0,8600		0,0,4300	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	500/699,500/699,500/699	43665131	1,13005	2203	4300	6503	SO:0001583	missense	149465							g.chr1:43665131C>T																												ENST00000372492.4:c.1499C>T	1.37:g.43665131C>T	ENSP00000361570:p.Thr500Met					EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.T489M|WDR65_uc001ciq.1_Missense_Mutation_p.T500M	p.T500M	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN			9	1620	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	500			WD 7.		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1499C>T		.	.	.	.	.	.	.	.	.	.	C	15.68	2.903969	0.52333	2.27E-4	0.0	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.07688	3.17;3.52	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.171927	0.51477	D	0.000089	T	0.24392	0.0591	M	0.75447	2.3	0.34159	D	0.668493	D;D	0.63880	0.984;0.993	P;P	0.60286	0.648;0.872	T	0.21655	-1.0239	10	0.34782	T	0.22	.	14.3904	0.66975	0.0:0.9269:0.0:0.0731	.	500;500	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	M	500	ENSP00000361570:T500M;ENSP00000435310:T500M	ENSP00000361570:T500M	T	+	2	0	WDR65	43437718	0.993000	0.37304	0.986000	0.45419	0.685000	0.39939	2.953000	0.49105	2.533000	0.85409	0.561000	0.74099	ACG		PASS	0.498	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			76	38	76	38	---	---	---	---
BCAS2	10286	broad.mit.edu	37	1	115113346	115113346	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:115113346C>A	ENST00000369541.3	-	5	492	c.445G>T	c.(445-447)Gca>Tca	p.A149S	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	149					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)		p.A149S(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCTGTGCGTGTTCAATC	0.269																																						uc001efa.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(445-447)GCA>TCA		breast carcinoma amplified sequence 2							33.0	28.0	30.0					1																	115113346		2188	4294	6482	SO:0001583	missense	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115113346C>A	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.445G>T	1.37:g.115113346C>A	ENSP00000358554:p.Ala149Ser					DENND2C_uc001eez.2_RNA	p.A149S	NM_005872	NP_005863	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	498	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	149			Potential.		Q6FGS0	Missense_Mutation	SNP	ENST00000369541.3	37	c.445G>T	CCDS874.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491430	0.64074	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.68	5.68	0.88126	.	0.095984	0.64402	D	0.000001	T	0.50309	0.1608	L	0.58302	1.8	0.80722	D	1	B	0.27316	0.175	B	0.30179	0.112	T	0.47497	-0.9113	9	0.22706	T	0.39	-19.754	20.1467	0.98079	0.0:1.0:0.0:0.0	.	149	O75934	SPF27_HUMAN	S	149	.	ENSP00000358554:A149S	A	-	1	0	BCAS2	114914869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.144000	0.58057	2.838000	0.97847	0.655000	0.94253	GCA		PASS	0.269	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		8	10	8	10	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115401310	115401310	+	Missense_Mutation	SNP	G	G	T	rs199737243		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:115401310G>T	ENST00000369522.3	+	6	674	c.434G>T	c.(433-435)cGa>cTa	p.R145L	SYCP1_ENST00000369518.1_Missense_Mutation_p.R145L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	145					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.R145L(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGCACAGCGAAAAGCCATT	0.333																																						uc001efr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(433-435)CGA>CTA		synaptonemal complex protein 1							115.0	120.0	118.0					1																	115401310		2203	4299	6502	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401310G>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.434G>T	1.37:g.115401310G>T	ENSP00000358535:p.Arg145Leu					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R145L|SYCP1_uc009wgw.2_Missense_Mutation_p.R145L	p.R145L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	643	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	145			Potential.		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.434G>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815275	0.90790	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.57273	0.41;0.41;0.41	5.11	5.11	0.69529	.	0.070231	0.64402	D	0.000015	T	0.62889	0.2465	M	0.68952	2.095	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.57820	-0.7745	10	0.21540	T	0.41	-5.0933	18.1352	0.89617	0.0:0.0:1.0:0.0	.	145;145	B7ZLS9;Q15431	.;SYCP1_HUMAN	L	145	ENSP00000358535:R145L;ENSP00000410011:R145L;ENSP00000358531:R145L	ENSP00000358531:R145L	R	+	2	0	SYCP1	115202833	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.978000	0.76147	2.375000	0.81037	0.563000	0.77884	CGA		PASS	0.333	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		50	30	50	30	---	---	---	---
RBM8A	9939	broad.mit.edu	37	1	145509204	145509204	+	Missense_Mutation	SNP	G	G	T	rs368052749		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:145509204G>T	ENST00000330165.8	+	6	587	c.518G>T	c.(517-519)cGt>cTt	p.R173L	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.R172L|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	173					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R173L(1)		kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCGGAGACGTCGCTGACAG	0.498																																						uc001ent.1																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)CGT>CTT		RNA binding motif protein 8A							61.0	61.0	61.0					1																	145509204		2203	4299	6502	SO:0001583	missense	9939				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr1:145509204G>T	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.518G>T	1.37:g.145509204G>T	ENSP00000333001:p.Arg173Leu					NBPF10_uc001emp.3_Intron|RBM8A_uc001enu.1_Missense_Mutation_p.R172L|RBM8A_uc001enw.1_5'Flank	p.R173L	NM_005105	NP_005096	Q9Y5S9	RBM8A_HUMAN			6	547	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173					B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	c.518G>T	CCDS916.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719332	0.68844	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.75704	-0.96;-0.96	4.41	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.57446	0.2054	L	0.55213	1.73	0.54753	D	0.999985	P;P	0.47841	0.901;0.841	B;B	0.41988	0.372;0.206	T	0.63834	-0.6547	10	0.72032	D	0.01	-3.0865	10.0852	0.42415	0.0994:0.0:0.9006:0.0	.	172;173	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	L	173;172	ENSP00000333001:R173L;ENSP00000358313:R172L	ENSP00000333001:R173L	R	+	2	0	RBM8A	144220561	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	6.659000	0.74412	1.071000	0.40834	0.561000	0.74099	CGT		PASS	0.498	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		77	48	77	48	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						uc001eqq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1426-1428)AAG>CAG		hypothetical protein LOC25832		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln					LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Missense_Mutation_p.K387Q|NBPF14_uc010pae.1_Missense_Mutation_p.K143Q|NBPF14_uc010paf.1_Missense_Mutation_p.K631Q|NBPF14_uc010pad.1_5'Flank|NBPF14_uc001eqs.1_Intron	p.K476Q	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			12	1443	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		PASS	0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		6	35	6	35	---	---	---	---
SF3B4	10262	broad.mit.edu	37	1	149895540	149895540	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:149895540C>A	ENST00000271628.8	-	6	1753	c.1169G>T	c.(1168-1170)cGa>cTa	p.R390L		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	390					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R390L(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTGGGGGTCGTGGAGGGCC	0.642																																						uc001etj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1168-1170)CGA>CTA		splicing factor 3b, subunit 4							13.0	17.0	16.0					1																	149895540		2200	4293	6493	SO:0001583	missense	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149895540C>A	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.1169G>T	1.37:g.149895540C>A	ENSP00000271628:p.Arg390Leu					SF3B4_uc001eti.1_Missense_Mutation_p.R154L|SF3B4_uc001etk.1_Missense_Mutation_p.R390L	p.R390L	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		6	1220	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		390					Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	c.1169G>T	CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118229	0.37339	.	.	ENSG00000143368	ENST00000271628	T	0.22336	1.96	4.48	4.48	0.54585	.	0.256383	0.37304	N	0.002142	T	0.09202	0.0227	L	0.34521	1.04	0.47994	D	0.999569	P	0.36599	0.56	B	0.31390	0.129	T	0.08269	-1.0730	10	0.62326	D	0.03	.	15.8897	0.79286	0.0:1.0:0.0:0.0	.	390	Q15427	SF3B4_HUMAN	L	390	ENSP00000271628:R390L	ENSP00000271628:R390L	R	-	2	0	SF3B4	148162164	0.997000	0.39634	0.972000	0.41901	0.993000	0.82548	3.622000	0.54217	2.313000	0.78055	0.655000	0.94253	CGA		PASS	0.642	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		22	11	22	11	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279999	152279999	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:152279999A>T	ENST00000368799.1	-	3	7398	c.7363T>A	c.(7363-7365)Tcc>Acc	p.S2455T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2455	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2455T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTTGGGACGTTGAGTGC	0.582									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7363-7365)TCC>ACC		filaggrin							344.0	316.0	325.0					1																	152279999		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279999A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7363T>A	1.37:g.152279999A>T	ENSP00000357789:p.Ser2455Thr						p.S2455T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7399	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2455			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7363T>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	7.031	0.560544	0.13498	.	.	ENSG00000143631	ENST00000368799	T	0.03635	3.86	3.16	-1.54	0.08584	.	.	.	.	.	T	0.01029	0.0034	L	0.61387	1.9	0.09310	N	1	B	0.31548	0.328	B	0.27262	0.078	T	0.46331	-0.9199	9	0.21540	T	0.41	.	2.8289	0.05494	0.4954:0.0:0.1233:0.3814	.	2455	P20930	FILA_HUMAN	T	2455	ENSP00000357789:S2455T	ENSP00000357789:S2455T	S	-	1	0	FLG	150546623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.735000	0.04888	-0.609000	0.05724	0.397000	0.26171	TCC		PASS	0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		201	699	201	699	---	---	---	---
PMF1	11243	broad.mit.edu	37	1	156206080	156206080	+	Splice_Site	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:156206080C>T	ENST00000368273.4	+	4	386	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PMF1_ENST00000368279.3_Intron|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.R124C|PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368277.3_Splice_Site_p.R124C|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1									p.R124C(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GCCCTCCAGGCGCCCCAGCGG	0.617																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	uc001fnq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CGC>TGC		polyamine-modulated factor 1							65.0	67.0	66.0					1																	156206080		2203	4300	6503	SO:0001630	splice_region_variant	11243				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity	g.chr1:156206080C>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.375-1C>T	1.37:g.156206080C>T						PMF1_uc001fnr.2_Intron|BGLAP_uc001fns.1_Intron	p.R124C	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN			4	393	+	Hepatocellular(266;0.158)		124						Missense_Mutation	SNP	ENST00000368273.4	37	c.370C>T	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218638	0.79464	.	.	ENSG00000160783	ENST00000368273;ENST00000368277	T;T	0.32988	1.43;1.43	5.81	5.81	0.92471	.	.	.	.	.	T	0.44371	0.1290	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39502	-0.9611	9	0.87932	D	0	.	12.9545	0.58418	0.0:0.9222:0.0:0.0778	.	124	Q6P1K2	PMF1_HUMAN	C	126;124	ENSP00000357256:R126C;ENSP00000357260:R124C	ENSP00000357256:R126C	R	+	1	0	PMF1	154472704	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.406000	0.44557	2.763000	0.94921	0.650000	0.86243	CGC		PASS	0.617	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221	Missense_Mutation	63	272	63	272	---	---	---	---
NES	10763	broad.mit.edu	37	1	156647042	156647042	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:156647042C>T	ENST00000368223.3	-	1	147	c.15G>A	c.(13-15)atG>atA	p.M5I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	5	Head.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.M5I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCCTCCCCCATGCAGCCCT	0.642																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(13-15)ATG>ATA		nestin							12.0	15.0	14.0					1																	156647042		1996	4119	6115	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156647042C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.15G>A	1.37:g.156647042C>T	ENSP00000357206:p.Met5Ile						p.M5I	NM_006617	NP_006608	P48681	NEST_HUMAN			1	148	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		5			Head.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.15G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992817	0.54041	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.84800	-1.9	5.09	2.01	0.26516	.	.	.	.	.	T	0.48169	0.1485	N	0.08118	0	0.26767	N	0.969876	B	0.16396	0.017	B	0.09377	0.004	T	0.39800	-0.9596	9	0.48119	T	0.1	.	5.262	0.15578	0.1443:0.6252:0.1488:0.0817	.	5	P48681	NEST_HUMAN	I	5	ENSP00000357206:M5I	ENSP00000255024:M5I	M	-	3	0	NES	154913666	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	0.706000	0.25690	0.102000	0.17638	0.462000	0.41574	ATG		PASS	0.642	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		21	84	21	84	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156846302	156846302	+	Silent	SNP	G	G	A	rs138423540		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:156846302G>A	ENST00000524377.1	+	14	1784	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	NTRK1_ENST00000358660.3_Silent_p.E578E|NTRK1_ENST00000368196.3_Silent_p.E575E|NTRK1_ENST00000392302.2_Silent_p.E545E	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E581E(1)|p.E545E(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCTGCACCGAGGGCCGCCCCC	0.667			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1741-1743)GAG>GAA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						38.0	35.0	36.0					1																	156846302		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846302G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1743G>A	1.37:g.156846302G>A		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.E545E|NTRK1_uc009wsi.1_Silent_p.E280E|NTRK1_uc001fqi.1_Silent_p.E575E|NTRK1_uc009wsk.1_Silent_p.E578E	p.E581E	NM_002529	NP_002520	P04629	NTRK1_HUMAN			14	1799	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		581			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.1743G>A	CCDS1161.1																																																																																				PASS	0.667	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		64	46	64	46	---	---	---	---
OR10X1	128367	broad.mit.edu	37	1	158549599	158549599	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:158549599C>A	ENST00000368150.1	-	1	90	c.91G>T	c.(91-93)Gtt>Ttt	p.V31F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V31F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAAAAGCCAACAAGAATGAAT	0.368																																						uc010pin.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)GTT>TTT		olfactory receptor, family 10, subfamily X,							123.0	120.0	121.0					1																	158549599		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549599C>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.91G>T	1.37:g.158549599C>A	ENSP00000357132:p.Val31Phe						p.V31F	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	91	-	all_hematologic(112;0.0378)		31			Extracellular (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.91G>T	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298903	0.10622	.	.	ENSG00000186400	ENST00000368150	T	0.00446	7.39	5.13	-5.69	0.02428	.	0.343745	0.21033	N	0.081313	T	0.00109	0.0003	L	0.59436	1.845	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.47433	-0.9118	10	0.66056	D	0.02	.	7.893	0.29688	0.0:0.1854:0.3867:0.4279	.	31	Q8NGY0	O10X1_HUMAN	F	31	ENSP00000357132:V31F	ENSP00000357132:V31F	V	-	1	0	OR10X1	156816223	0.000000	0.05858	0.009000	0.14445	0.348000	0.29142	-1.641000	0.02007	-0.679000	0.05217	-0.142000	0.14014	GTT		PASS	0.368	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		74	242	74	242	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	159002392	159002392	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:159002392C>A	ENST00000295809.7	+	7	1495	c.1240C>A	c.(1240-1242)Cct>Act	p.P414T	IFI16_ENST00000368131.4_Missense_Mutation_p.P414T|IFI16_ENST00000430894.2_Missense_Mutation_p.P362T|IFI16_ENST00000448393.2_Missense_Mutation_p.P414T|IFI16_ENST00000368132.3_Missense_Mutation_p.P414T|IFI16_ENST00000359709.3_Missense_Mutation_p.P358T|IFI16_ENST00000340979.6_Missense_Mutation_p.P414T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	414					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.P414T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GCTTCCATATCCTTCAGAGGC	0.463																																						uc001ftg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1240-1242)CCT>ACT		interferon, gamma-inducible protein 16							129.0	120.0	123.0					1																	159002392		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159002392C>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1240C>A	1.37:g.159002392C>A	ENSP00000295809:p.Pro414Thr					IFI16_uc010pis.1_Missense_Mutation_p.P358T|IFI16_uc001fth.2_Missense_Mutation_p.P13T|IFI16_uc010pit.1_Missense_Mutation_p.P13T	p.P414T	NM_005531	NP_005522	Q16666	IF16_HUMAN			7	1530	+	all_hematologic(112;0.0429)		414					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1240C>A		.	.	.	.	.	.	.	.	.	.	C	6.678	0.493676	0.12702	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.06449	3.3;3.55;3.57;3.57;3.43	2.15	-4.3	0.03710	.	.	.	.	.	T	0.01287	0.0042	N	0.25647	0.755	0.09310	N	1	B;B;B	0.28713	0.003;0.073;0.22	B;B;B	0.36244	0.004;0.06;0.22	T	0.45527	-0.9255	9	0.38643	T	0.18	.	3.5034	0.07681	0.5114:0.2191:0.0:0.2695	.	362;414;414	E7EPR3;Q16666-3;Q16666-2	.;.;.	T	414;414;414;414;362	ENSP00000295809:P414T;ENSP00000342741:P414T;ENSP00000357113:P414T;ENSP00000357114:P414T;ENSP00000394935:P362T	ENSP00000295809:P414T	P	+	1	0	IFI16	157269016	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.827000	0.00746	-1.869000	0.01141	-0.475000	0.04921	CCT		PASS	0.463	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		9	152	9	152	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172222761	172222761	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:172222761G>A	ENST00000355305.5	+	16	1895	c.1738G>A	c.(1738-1740)Gat>Aat	p.D580N	DNM3_ENST00000367731.1_Missense_Mutation_p.D570N|DNM3_ENST00000520906.1_Missense_Mutation_p.D570N|DNM3_ENST00000358155.4_Missense_Mutation_p.D570N			Q9UQ16	DYN3_HUMAN	dynamin 3	580	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D570N(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAAGTTCGGGATGTGGAAAA	0.393																																						uc001gie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1708-1710)GAT>AAT		dynamin 3 isoform a							59.0	56.0	57.0					1																	172222761		1844	4114	5958	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172222761G>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1738G>A	1.37:g.172222761G>A	ENSP00000347457:p.Asp580Asn					DNM3_uc009wwb.2_Missense_Mutation_p.D570N|DNM3_uc001gif.2_Missense_Mutation_p.D570N	p.D570N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			15	1884	+			580			PH.		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.1708G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.432309	0.96150	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000520906	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.76002	2.32	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.16289	0.011;0.015;0.015	T	0.70464	-0.4864	10	0.54805	T	0.06	.	18.2597	0.90031	0.0:0.0:1.0:0.0	.	570;570;570	E5RHK8;Q9UQ16-2;Q9UQ16-3	.;.;.	N	580;570;580;570;570	ENSP00000350876:D570N;ENSP00000347457:D580N;ENSP00000356705:D570N;ENSP00000429701:D570N	ENSP00000347457:D580N	D	+	1	0	DNM3	170489384	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.536000	0.98067	2.632000	0.89209	0.557000	0.71058	GAT		PASS	0.393	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		3	24	3	24	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175325459	175325459	+	Silent	SNP	A	A	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:175325459A>C	ENST00000367674.2	-	16	3822	c.3114T>G	c.(3112-3114)tcT>tcG	p.S1038S	TNR_ENST00000263525.2_Silent_p.S1038S			Q92752	TENR_HUMAN	tenascin R	1038	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S1038S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTCACGAGTAGAAAAGTTGG	0.478																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3112-3114)TCT>TCG		tenascin R precursor							249.0	218.0	228.0					1																	175325459		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325459A>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3114T>G	1.37:g.175325459A>C						TNR_uc009wwu.1_Silent_p.S1038S	p.S1038S	NM_003285	NP_003276	Q92752	TENR_HUMAN			14	3195	-	Renal(580;0.146)		1038			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.3114T>G	CCDS1318.1																																																																																				PASS	0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		72	221	72	221	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067167	190067167	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:190067167G>C	ENST00000367462.3	-	8	2513	c.2282C>G	c.(2281-2283)aCg>aGg	p.T761R	BRINP3_ENST00000534846.1_Missense_Mutation_p.T659R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	761					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T761R(1)									TAATTTGGTCGTGTCATAATC	0.398																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2281-2283)ACG>AGG		family with sequence similarity 5, member C							151.0	148.0	149.0					1																	190067167		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067167G>C	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2282C>G	1.37:g.190067167G>C	ENSP00000356432:p.Thr761Arg					FAM5C_uc010pot.1_Missense_Mutation_p.T659R	p.T761R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2514	-	Prostate(682;0.198)		761					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2282C>G	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548097	0.65311	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20463	2.34;2.07	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	T	0.41124	-0.9526	10	0.87932	D	0	.	17.0858	0.86611	0.0:0.0:1.0:0.0	.	659;761	B7Z260;Q76B58	.;FAM5C_HUMAN	R	761;659	ENSP00000356432:T761R;ENSP00000438022:T659R	ENSP00000356432:T761R	T	-	2	0	FAM5C	188333790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.901000	0.87382	2.626000	0.88956	0.557000	0.71058	ACG		PASS	0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		76	305	76	305	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197398609	197398609	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:197398609C>A	ENST00000367400.3	+	8	2842	c.2707C>A	c.(2707-2709)Cat>Aat	p.H903N	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.H384N|CRB1_ENST00000367397.1_Missense_Mutation_p.H284N|CRB1_ENST00000535699.1_Missense_Mutation_p.H879N|CRB1_ENST00000367399.2_Missense_Mutation_p.H791N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	903	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H903N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGTGTTTGCCATTCCCGGTG	0.498																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2707-2709)CAT>AAT		crumbs homolog 1 precursor							189.0	171.0	177.0					1																	197398609		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398609C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2707C>A	1.37:g.197398609C>A	ENSP00000356370:p.His903Asn					CRB1_uc010poz.1_Missense_Mutation_p.H879N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.H791N|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.H384N|CRB1_uc001gub.1_Missense_Mutation_p.H552N	p.H903N	NM_201253	NP_957705	P82279	CRUM1_HUMAN			8	2842	+			903			Extracellular (Potential).|EGF-like 13.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2707C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	6.017	0.371438	0.11409	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;T;T;T;T	0.91945	-2.94;-0.99;-0.99;-0.99;-0.99	5.55	0.63	0.17693	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.82148	0.4974	N	0.17631	0.505	0.26543	N	0.974057	P;B;B;P	0.37864	0.61;0.302;0.175;0.523	B;B;B;B	0.32677	0.093;0.05;0.093;0.15	T	0.69304	-0.5180	9	0.25106	T	0.35	.	9.1259	0.36814	0.0:0.2871:0.0:0.7129	.	879;791;552;903	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	879;903;791;384;284;552	ENSP00000438786:H879N;ENSP00000356370:H903N;ENSP00000356369:H791N;ENSP00000444556:H384N;ENSP00000356367:H284N	ENSP00000356367:H284N	H	+	1	0	CRB1	195665232	0.998000	0.40836	0.076000	0.20297	0.016000	0.09150	2.379000	0.44318	-0.140000	0.11394	-0.768000	0.03414	CAT		PASS	0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		252	141	252	141	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206634438	206634438	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:206634438G>A	ENST00000414007.1	+	19	2469	c.2469G>A	c.(2467-2469)caG>caA	p.Q823Q				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	963					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.Q823Q(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TAGAACGGCAGAGCAGTGTCA	0.567																																						uc001hdy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2626-2628)CAG>CAA		SLIT-ROBO Rho GTPase activating protein 2							55.0	61.0	59.0					1																	206634438		1953	4154	6107	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206634438G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2469G>A	1.37:g.206634438G>A						SRGAP2_uc010pru.1_Silent_p.Q799Q	p.Q876Q	NM_015326	NP_056141	O75044	FNBP2_HUMAN			20	2961	+	Breast(84;0.137)		963			Potential.			Silent	SNP	ENST00000414007.1	37	c.2628G>A		.	.	.	.	.	.	.	.	.	.	G	5.427	0.264008	0.10294	.	.	ENSG00000163486	ENST00000295713	.	.	.	6.04	4.95	0.65309	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.31813	N	0.62693	.	.	.	.	.	.	T	0.62364	-0.6870	3	.	.	.	.	10.7718	0.46327	0.1902:0.0:0.8098:0.0	.	.	.	.	K	877	.	.	E	+	1	0	SRGAP2	204701061	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.834000	0.39171	2.873000	0.98535	0.561000	0.74099	GAG		PASS	0.567	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		15	63	15	63	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215759950	215759950	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:215759950G>A	ENST00000259154.4	+	9	1033	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	247					protein homooligomerization (GO:0051260)			p.D247N(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGGAGACAAAGACAAAATGGT	0.448																																						uc001hks.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(739-741)GAC>AAC		potassium channel tetramerisation domain							203.0	198.0	199.0					1																	215759950		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215759950G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.739G>A	1.37:g.215759950G>A	ENSP00000259154:p.Asp247Asn					KCTD3_uc001hkt.2_Missense_Mutation_p.D247N|KCTD3_uc010pub.1_Missense_Mutation_p.D145N|KCTD3_uc009xdn.2_5'UTR	p.D247N	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	9	1033	+			247			WD 1.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.739G>A	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386811	0.82902	.	.	ENSG00000136636	ENST00000259154	T	0.41065	1.01	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	M	0.66939	2.045	0.80722	D	1	D;B	0.62365	0.991;0.093	P;B	0.56434	0.798;0.05	T	0.58645	-0.7600	10	0.49607	T	0.09	-34.5878	18.7242	0.91708	0.0:0.0:1.0:0.0	.	247;247	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	N	247	ENSP00000259154:D247N	ENSP00000259154:D247N	D	+	1	0	KCTD3	213826573	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.476000	0.97823	2.669000	0.90835	0.591000	0.81541	GAC		PASS	0.448	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		79	318	79	318	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216246232	216246232	+	Splice_Site	SNP	T	T	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:216246232T>G	ENST00000307340.3	-	29	6242	c.5856A>C	c.(5854-5856)gcA>gcC	p.A1952A	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Splice_Site_p.A1952A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1952	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A1952A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTATTTACCTGCTCCTGTTG	0.378										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5854-5856)GCA>GCC		usherin isoform B							139.0	112.0	121.0					1																	216246232		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216246232T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5857+1A>C	1.37:g.216246232T>G		HNSCC(13;0.011)					p.A1952A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	29	6243	-			1952			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.5856A>C	CCDS31025.1																																																																																				PASS	0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Silent	155	105	155	105	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227348261	227348261	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:227348261G>C	ENST00000366769.3	-	6	1967	c.676C>G	c.(676-678)Ctg>Gtg	p.L226V	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L226V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L226V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L226V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L226V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L226V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L226V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.L226V(3)		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)				TCTTCCATCAGCTTCAGACAA	0.308																																						uc001hqr.2																			3	Substitution - Missense(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(676-678)CTG>GTG		CDC42-binding protein kinase alpha isoform B							135.0	143.0	140.0					1																	227348261		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.chr1:227348261G>C	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.676C>G	1.37:g.227348261G>C	ENSP00000355731:p.Leu226Val					CDC42BPA_uc001hqs.2_Missense_Mutation_p.L226V|CDC42BPA_uc009xes.2_Missense_Mutation_p.L226V|CDC42BPA_uc010pvs.1_Missense_Mutation_p.L226V	p.L226V	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			6	1619	-		all_cancers(173;0.156)|Prostate(94;0.0792)	226			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.676C>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664503	0.47572	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.18	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	L	0.28014	0.82	0.51482	D	0.999927	D;D;P;P	0.63046	0.976;0.992;0.76;0.494	P;P;P;B	0.62649	0.905;0.884;0.589;0.411	T	0.64424	-0.6411	10	0.54805	T	0.06	.	6.2812	0.21009	0.1631:0.0:0.6865:0.1504	.	226;226;226;226	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	V	226	ENSP00000355731:L226V;ENSP00000355729:L226V;ENSP00000335341:L226V;ENSP00000355728:L226V;ENSP00000355726:L226V;ENSP00000443275:L226V;ENSP00000355727:L226V	ENSP00000335341:L226V	L	-	1	2	CDC42BPA	225414884	0.977000	0.34250	1.000000	0.80357	0.998000	0.95712	1.454000	0.35178	1.166000	0.42689	0.585000	0.79938	CTG		PASS	0.308	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		12	281	12	281	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233515049	233515049	+	Missense_Mutation	SNP	G	G	T	rs200336839	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:233515049G>T	ENST00000366624.3	+	9	2558	c.2297G>T	c.(2296-2298)cGg>cTg	p.R766L	MLK4_ENST00000366622.1_Missense_Mutation_p.R212L	NM_032435.2	NP_115811.2												p.R766L(1)									ATCTTCCAGCGGGCTTCCAAG	0.602																																						uc001hvt.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(2296-2298)CGG>CTG		mixed lineage kinase 4							59.0	67.0	64.0					1																	233515049		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233515049G>T																												ENST00000366624.3:c.2297G>T	1.37:g.233515049G>T	ENSP00000355583:p.Arg766Leu					KIAA1804_uc001hvu.3_Missense_Mutation_p.R212L	p.R766L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			9	2558	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	766						Missense_Mutation	SNP	ENST00000366624.3	37	c.2297G>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425760	0.43020	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	D;T	0.82081	-1.57;2.29	4.85	1.9	0.25705	.	0.251234	0.32386	N	0.006165	T	0.65933	0.2739	N	0.25245	0.725	0.39613	D	0.9699	P;B	0.37781	0.608;0.015	B;B	0.33042	0.157;0.006	T	0.58831	-0.7567	10	0.38643	T	0.18	.	6.1324	0.20213	0.0739:0.1344:0.6522:0.1395	.	213;766	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	L	766;212	ENSP00000355583:R766L;ENSP00000355581:R212L	ENSP00000355581:R212L	R	+	2	0	RP5-862P8.2	231581672	1.000000	0.71417	0.041000	0.18516	0.703000	0.40648	4.634000	0.61325	0.236000	0.21180	0.650000	0.86243	CGG		PASS	0.602	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			133	91	133	91	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237550599	237550599	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:237550599G>A	ENST00000366574.2	+	9	912	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	RYR2_ENST00000542537.1_Missense_Mutation_p.G183S|RYR2_ENST00000360064.6_Missense_Mutation_p.G197S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	199	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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.G197S(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)			TTATGGCAACGGCAGCTTACA	0.493																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(595-597)GGC>AGC		cardiac muscle ryanodine receptor							114.0	115.0	114.0					1																	237550599		2002	4177	6179	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.chr1:237550599G>A	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.595G>A	1.37:g.237550599G>A	ENSP00000355533:p.Gly199Ser						p.G199S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	715	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	199			Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.595G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258942	0.39896	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98249	-4.82;-4.82;-4.82	5.22	3.33	0.38152	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.258092	0.30473	N	0.009560	D	0.96423	0.8833	M	0.68317	2.08	0.80722	D	1	B	0.16802	0.019	B	0.11329	0.006	D	0.93268	0.6649	10	0.38643	T	0.18	.	9.87	0.41168	0.1722:0.0:0.8278:0.0	.	199	Q92736	RYR2_HUMAN	S	199;197;183	ENSP00000355533:G199S;ENSP00000353174:G197S;ENSP00000443798:G183S	ENSP00000353174:G197S	G	+	1	0	RYR2	235617222	1.000000	0.71417	0.579000	0.28588	0.830000	0.47004	3.143000	0.50608	0.580000	0.29522	0.591000	0.81541	GGC		PASS	0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		59	178	59	178	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240421269	240421269	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:240421269A>G	ENST00000319653.9	+	7	4320	c.4090A>G	c.(4090-4092)Aga>Gga	p.R1364G	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1364	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R1507G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCAACAAAAGATCACAAGC	0.308																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4090-4092)AGA>GGA		formin 2							103.0	102.0	102.0					1																	240421269		2203	4298	6501	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240421269A>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4090A>G	1.37:g.240421269A>G	ENSP00000318884:p.Arg1364Gly					FMN2_uc010pye.1_Missense_Mutation_p.R1368G|FMN2_uc010pyf.1_Missense_Mutation_p.R10G|FMN2_uc010pyg.1_Intron	p.R1364G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		7	4315	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1364			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4090A>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165652	0.78339	.	.	ENSG00000155816	ENST00000319653;ENST00000441342	T;T	0.21734	1.99;1.99	5.42	5.42	0.78866	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000002	T	0.55955	0.1953	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67086	-0.5759	10	0.87932	D	0	.	15.7561	0.78025	1.0:0.0:0.0:0.0	.	10;1364	F5H2C1;Q9NZ56	.;FMN2_HUMAN	G	1364;10	ENSP00000318884:R1364G;ENSP00000388922:R10G	ENSP00000318884:R1364G	R	+	1	2	FMN2	238487892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.184000	0.50926	2.186000	0.69663	0.459000	0.35465	AGA		PASS	0.308	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		99	85	99	85	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752240	247752240	+	Silent	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:247752240G>T	ENST00000320065.1	+	1	579	c.579G>T	c.(577-579)gtG>gtT	p.V193V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V193V(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTTGTGTGGGCACCACGT	0.537																																						uc010pyy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)GTG>GTT		olfactory receptor, family 2, subfamily G,							169.0	170.0	170.0					1																	247752240		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752240G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.579G>T	1.37:g.247752240G>T							p.V193V	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	579	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		193			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.579G>T	CCDS31092.1																																																																																				PASS	0.537	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			93	246	93	246	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875180	247875180	+	Missense_Mutation	SNP	C	C	T	rs372005274		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:247875180C>T	ENST00000302084.2	-	1	925	c.878G>A	c.(877-879)cGt>cAt	p.R293H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293L(1)|p.R293H(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCCTTATTACGAAGCGTATA	0.438																																						uc001idj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(877-879)CGT>CAT		olfactory receptor, family 6, subfamily F,		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	123.0	123.0		878	1.5	0.0	1		123	0,8600		0,0,4300	no	missense	OR6F1	NM_001005286.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	293/309	247875180	1,13005	2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875180C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.878G>A	1.37:g.247875180C>T	ENSP00000305640:p.Arg293His						p.R293H	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	878	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		293			Cytoplasmic (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.878G>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515575	0.27123	2.27E-4	0.0	ENSG00000169214	ENST00000302084	T	0.41065	1.01	3.49	1.54	0.23209	.	0.174240	0.25349	N	0.031304	T	0.48995	0.1531	M	0.93420	3.415	0.09310	N	1	B	0.20671	0.047	B	0.14023	0.01	T	0.52779	-0.8530	10	0.72032	D	0.01	-8.9544	6.9123	0.24342	0.1716:0.7308:0.0:0.0976	.	293	Q8NGZ6	OR6F1_HUMAN	H	293	ENSP00000305640:R293H	ENSP00000305640:R293H	R	-	2	0	OR6F1	245941803	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.804000	0.27098	0.268000	0.21939	0.591000	0.81541	CGT		PASS	0.438	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		168	117	168	117	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343511	248343511	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:248343511G>T	ENST00000359682.2	+	1	224	c.224G>T	c.(223-225)tGc>tTc	p.C75F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C75F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGCTCATCTGCACCACCGTA	0.498																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(223-225)TGC>TTC		olfactory receptor, family 2, subfamily M,							261.0	252.0	255.0					1																	248343511		2203	4297	6500	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343511G>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.224G>T	1.37:g.248343511G>T	ENSP00000352710:p.Cys75Phe						p.C75F	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	224	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		75			Helical; Name=2; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.224G>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	4.998	0.185239	0.09495	.	.	ENSG00000198601	ENST00000359682	T	0.00477	7.14	2.03	-0.343	0.12632	GPCR, rhodopsin-like superfamily (1);	0.258791	0.20212	U	0.096868	T	0.00356	0.0011	L	0.33624	1.015	0.09310	N	1	B	0.20671	0.047	B	0.20577	0.03	T	0.44726	-0.9309	10	0.72032	D	0.01	.	10.6053	0.45390	0.0:0.6373:0.3627:0.0	.	75	Q96R28	OR2M2_HUMAN	F	75	ENSP00000352710:C75F	ENSP00000352710:C75F	C	+	2	0	OR2M2	246410134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.536000	0.23129	-0.233000	0.09797	-0.531000	0.04308	TGC		PASS	0.498	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		97	690	97	690	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248437053	248437053	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:248437053G>T	ENST00000318021.2	-	1	85	c.64C>A	c.(64-66)Cac>Aac	p.H22N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H22N(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGACTTGGTGGGCTCTGGTG	0.463																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(64-66)CAC>AAC		olfactory receptor, family 2, subfamily T,							51.0	53.0	53.0					1																	248437053		2200	4294	6494	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437053G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.64C>A	1.37:g.248437053G>T	ENSP00000324687:p.His22Asn						p.H22N	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	64	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		22			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.64C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	14.33	2.504593	0.44558	.	.	ENSG00000177212	ENST00000318021	T	0.00428	7.44	2.7	2.7	0.31948	.	0.000000	0.36628	U	0.002492	T	0.00440	0.0014	L	0.43923	1.385	0.27792	N	0.942798	D	0.52996	0.957	P	0.52159	0.691	T	0.58194	-0.7679	10	0.18276	T	0.48	.	9.4515	0.38729	0.0:0.0:0.7869:0.2131	.	22	Q8NG76	O2T33_HUMAN	N	22	ENSP00000324687:H22N	ENSP00000324687:H22N	H	-	1	0	OR2T33	246503676	0.000000	0.05858	0.391000	0.26233	0.095000	0.18619	0.240000	0.18042	1.437000	0.47472	0.494000	0.49563	CAC		PASS	0.463	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		57	178	57	178	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458858	248458858	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:248458858G>A	ENST00000317996.1	-	1	22	c.23C>T	c.(22-24)cCa>cTa	p.P8L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P8L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AATAAAATCTGGGGTAGTATT	0.438																																						uc010pzj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(22-24)CCA>CTA		olfactory receptor, family 2, subfamily T,							73.0	75.0	74.0					1																	248458858		2203	4297	6500	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458858G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.23C>T	1.37:g.248458858G>A	ENSP00000324583:p.Pro8Leu						p.P8L	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	23	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		8			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.23C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.829033	0.16749	.	.	ENSG00000177201	ENST00000317996	T	0.00452	7.34	1.56	1.56	0.23342	.	2.030560	0.03385	N	0.200928	T	0.00328	0.0010	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	10	0.59425	D	0.04	.	10.6061	0.45394	0.0:0.0:1.0:0.0	.	8	Q8NG77	O2T12_HUMAN	L	8	ENSP00000324583:P8L	ENSP00000324583:P8L	P	-	2	0	OR2T12	246525481	0.002000	0.14202	0.001000	0.08648	0.083000	0.17756	1.332000	0.33805	0.650000	0.30769	0.184000	0.17185	CCA		PASS	0.438	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		156	113	156	113	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248845103	248845103	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:248845103C>A	ENST00000342623.3	-	1	526	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R168I(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CACACTGGATCTGCAAACGTG	0.532																																						uc001ieu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)AGA>ATA		olfactory receptor, family 14, subfamily I,							100.0	94.0	96.0					1																	248845103		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845103C>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.503G>T	1.37:g.248845103C>A	ENSP00000339726:p.Arg168Ile						p.R168I	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	503	-			168			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.503G>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	15.50	2.852913	0.51270	.	.	ENSG00000189181	ENST00000342623	T	0.37058	1.22	3.49	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.136777	0.31624	N	0.007336	T	0.42921	0.1224	L	0.47190	1.495	0.09310	N	1	D	0.61697	0.99	D	0.63597	0.916	T	0.17684	-1.0361	10	0.59425	D	0.04	.	4.0652	0.09857	0.235:0.6394:0.0:0.1256	.	168	A6ND48	O14I1_HUMAN	I	168	ENSP00000339726:R168I	ENSP00000339726:R168I	R	-	2	0	OR14I1	246911726	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.566000	0.23593	0.617000	0.30160	0.543000	0.68304	AGA		PASS	0.532	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		16	59	16	59	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17912378	17912378	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:17912378C>G	ENST00000448223.2	-	7	779	c.510G>C	c.(508-510)gaG>gaC	p.E170D	SMC6_ENST00000402989.1_Missense_Mutation_p.E170D|SMC6_ENST00000351948.4_Missense_Mutation_p.E170D|SMC6_ENST00000381272.4_Missense_Mutation_p.E196D	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	170					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.E170D(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGCAATCAGCTCTTCTTTCC	0.333																																						uc002rco.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(508-510)GAG>GAC		SMC6 protein							88.0	87.0	87.0					2																	17912378		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17912378C>G	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.510G>C	2.37:g.17912378C>G	ENSP00000404092:p.Glu170Asp					SMC6_uc010exo.2_Missense_Mutation_p.E170D|SMC6_uc002rcn.2_Missense_Mutation_p.E170D|SMC6_uc002rcp.1_Missense_Mutation_p.E196D|SMC6_uc002rcq.2_Missense_Mutation_p.E196D|SMC6_uc002rcr.1_Missense_Mutation_p.E170D	p.E170D	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			7	806	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		170					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.510G>C	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120636	0.56613	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.67698	-0.28;-0.28;3.31;-0.28;3.31	5.8	-1.58	0.08479	RecF/RecN/SMC (1);	0.045201	0.85682	D	0.000000	T	0.58878	0.2153	L	0.38953	1.18	0.41603	D	0.988864	P;B;P	0.41929	0.722;0.292;0.765	P;B;P	0.48982	0.462;0.268;0.597	T	0.53500	-0.8430	10	0.18710	T	0.47	.	11.8675	0.52501	0.0:0.4105:0.0:0.5895	.	196;196;170	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	D	170;170;196;170;196	ENSP00000404092:E170D;ENSP00000323439:E170D;ENSP00000370672:E196D;ENSP00000384539:E170D;ENSP00000408644:E196D	ENSP00000323439:E170D	E	-	3	2	SMC6	17775859	0.640000	0.27243	0.989000	0.46669	0.903000	0.53119	-0.292000	0.08332	-0.122000	0.11766	-0.225000	0.12378	GAG		PASS	0.333	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		47	88	47	88	---	---	---	---
OSR1	130497	broad.mit.edu	37	2	19553399	19553399	+	Silent	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:19553399C>G	ENST00000272223.2	-	2	512	c.168G>C	c.(166-168)acG>acC	p.T56T	OSR1_ENST00000536433.1_Silent_p.T56T	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	56					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T56T(1)		breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGTAGCCCAGCGTCCACTGAT	0.627																																						uc002rdc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(166-168)ACG>ACC		odd-skipped related 1							43.0	43.0	43.0					2																	19553399		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553399C>G	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.168G>C	2.37:g.19553399C>G							p.T56T	NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN			2	471	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	56					B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.168G>C	CCDS1694.1																																																																																				PASS	0.627	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		25	39	25	39	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39222461	39222461	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:39222461A>G	ENST00000426016.1	-	21	3235	c.3149T>C	c.(3148-3150)aTg>aCg	p.M1050T	SOS1_ENST00000402219.2_Missense_Mutation_p.M1050T|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000395038.2_Missense_Mutation_p.M1050T			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1050					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M1050T(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GGGATGCCTCATGGTACCTGG	0.418									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(3148-3150)ATG>ACG		son of sevenless homolog 1							135.0	132.0	133.0					2																	39222461		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39222461A>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3149T>C	2.37:g.39222461A>G	ENSP00000387784:p.Met1050Thr					SOS1_uc002rrj.3_Missense_Mutation_p.M664T	p.M1050T	NM_005633	NP_005624	Q07889	SOS1_HUMAN			20	3190	-		all_hematologic(82;0.21)	1050					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.3149T>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394272	0.42410	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.76316	-0.87;-0.87;-1.01	5.91	5.91	0.95273	.	0.079816	0.85682	D	0.000000	T	0.68860	0.3047	L	0.44542	1.39	0.80722	D	1	B	0.31581	0.329	B	0.28916	0.096	T	0.66015	-0.6028	10	0.08179	T	0.78	.	16.3436	0.83110	1.0:0.0:0.0:0.0	.	1050	Q07889	SOS1_HUMAN	T	1050;1050;782;1050;1050	ENSP00000387784:M1050T;ENSP00000384675:M1050T;ENSP00000378479:M1050T	ENSP00000263879:M1050T	M	-	2	0	SOS1	39075965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.729000	0.74775	2.269000	0.75478	0.533000	0.62120	ATG		PASS	0.418	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		91	112	91	112	---	---	---	---
CAMKMT	79823	broad.mit.edu	37	2	44981257	44981257	+	Splice_Site	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:44981257G>T	ENST00000378494.3	+	9	806	c.762G>T	c.(760-762)agG>agT	p.R254S		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	254						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)	p.R254S(1)		breast(2)|large_intestine(3)|lung(5)	10						TCCAGCCCAGGGTAAGTATGT	0.418																																						uc002rum.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)AGG>AGT		hypothetical protein LOC79823							237.0	240.0	239.0					2																	44981257		2203	4300	6503	SO:0001630	splice_region_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44981257G>T		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.762+1G>T	2.37:g.44981257G>T							p.R254S	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN			9	866	+		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)	254					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	c.762G>T	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	G	2.608	-0.291478	0.05568	.	.	ENSG00000143919	ENST00000378494	T	0.08984	3.03	5.79	0.603	0.17541	.	0.429139	0.30940	N	0.008565	T	0.01905	0.0060	N	0.01352	-0.895	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45483	-0.9258	10	0.05833	T	0.94	-0.0107	5.3019	0.15783	0.3252:0.0:0.4529:0.2219	.	254	Q7Z624	CMKMT_HUMAN	S	254	ENSP00000367755:R254S	ENSP00000367755:R254S	R	+	3	2	CAMKMT	44834761	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	0.467000	0.22035	0.165000	0.19558	-0.126000	0.14955	AGG		PASS	0.418	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Missense_Mutation	22	385	22	385	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50149369	50149369	+	Missense_Mutation	SNP	C	C	A	rs200604893		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:50149369C>A	ENST00000406316.2	-	22	5623	c.4147G>T	c.(4147-4149)Ggc>Tgc	p.G1383C	NRXN1_ENST00000402717.3_Missense_Mutation_p.G1405C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1383C|NRXN1_ENST00000404971.1_Missense_Mutation_p.G1453C|NRXN1_ENST00000342183.5_Missense_Mutation_p.G348C|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1413C|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1405C|NRXN1_ENST00000401710.1_Missense_Mutation_p.G401C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1383					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G1454C(1)|p.G1453C(1)|p.G348C(1)|p.G1383C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCTCTCTGCCGCCTGCTCGG	0.507																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1042-1044)GGC>TGC		neurexin 1 isoform beta precursor							35.0	32.0	33.0					2																	50149369		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149369C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4147G>T	2.37:g.50149369C>A	ENSP00000384311:p.Gly1383Cys					NRXN1_uc002rxb.3_Missense_Mutation_p.G1082C|NRXN1_uc010fbq.2_Missense_Mutation_p.G1453C|NRXN1_uc002rxe.3_Missense_Mutation_p.G1383C|NRXN1_uc010yon.1_Missense_Mutation_p.G48C|NRXN1_uc002rxa.3_Missense_Mutation_p.G45C	p.G348C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	1849	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	348			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1042G>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.03|15.03	2.712694|2.712694	0.48517|0.48517	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262	T;T;T;T;T;T;T;T|.	0.71222|.	0.96;2.13;0.15;0.11;-0.55;-0.44;-0.15;-0.02|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.198657|.	0.18870|.	U|.	0.128879|.	T|T	0.47838|0.47838	0.1467|0.1467	N|N	0.22421|0.22421	0.69|0.69	0.35980|0.35980	D|D	0.835954|0.835954	P;B;D;D;P;D|.	0.65815|.	0.913;0.011;0.992;0.995;0.915;0.993|.	B;B;P;P;P;P|.	0.56514|.	0.284;0.052;0.8;0.767;0.622;0.767|.	T|T	0.51988|0.51988	-0.8635|-0.8635	10|5	0.54805|.	T|.	0.06|.	.|.	14.9645|14.9645	0.71182|0.71182	0.0:0.8581:0.1419:0.0|0.0:0.8581:0.1419:0.0	.|.	48;1453;348;1383;1402;45|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.	.;.;NRX1B_HUMAN;.;.;.|.	C|L	348;302;401;1453;1383;1405;1413;1454;1405;1383|49	ENSP00000341184:G348C;ENSP00000385580:G401C;ENSP00000385142:G1453C;ENSP00000384311:G1383C;ENSP00000434015:G1405C;ENSP00000385017:G1413C;ENSP00000385434:G1405C;ENSP00000385681:G1383C|.	ENSP00000341184:G348C|.	G|R	-|-	1|2	0|0	NRXN1|NRXN1	50002873|50002873	0.997000|0.997000	0.39634|0.39634	0.931000|0.931000	0.37212|0.37212	0.862000|0.862000	0.49288|0.49288	3.788000|3.788000	0.55446|0.55446	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GGC|CGG		PASS	0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			13	29	13	29	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74146658	74146658	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:74146658T>A	ENST00000409624.1	+	10	1730	c.1087T>A	c.(1087-1089)Tat>Aat	p.Y363N	ACTG2_ENST00000409731.3_Missense_Mutation_p.Y320N|ACTG2_ENST00000345517.3_Missense_Mutation_p.Y363N			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	363					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Y363N(1)		large_intestine(3)|lung(14)|skin(1)	18						CAAGCCTGAGTATGATGAGGC	0.532																																						uc002sjw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)TAT>AAT		actin, gamma 2 propeptide							79.0	78.0	78.0					2																	74146658		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146658T>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1087T>A	2.37:g.74146658T>A	ENSP00000386857:p.Tyr363Asn					ACTG2_uc010fey.2_Missense_Mutation_p.Y363N|ACTG2_uc010yrn.1_Missense_Mutation_p.Y320N	p.Y363N	NM_001615	NP_001606	P63267	ACTH_HUMAN			9	1209	+			363					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.1087T>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536617	0.65085	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.99353	-5.77;-5.77;-5.77	4.8	4.8	0.61643	Actin, conserved site (1);	0.341489	0.23149	N	0.051376	D	0.99796	0.9913	H	0.99988	5.28	0.50813	D	0.999892	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96485	0.9359	10	0.87932	D	0	.	13.7474	0.62883	0.0:0.0:0.0:1.0	.	320;363	E9PG30;P63267	.;ACTH_HUMAN	N	320;363;363	ENSP00000386929:Y320N;ENSP00000295137:Y363N;ENSP00000386857:Y363N	ENSP00000295137:Y363N	Y	+	1	0	ACTG2	74000166	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.825000	0.86693	2.142000	0.66516	0.482000	0.46254	TAT		PASS	0.532	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		41	50	41	50	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74881627	74881627	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:74881627A>T	ENST00000357877.2	+	1	273	c.124A>T	c.(124-126)Aga>Tga	p.R42*	SEMA4F_ENST00000339773.5_Nonsense_Mutation_p.R42*	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	42	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.R42*(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTCGGTGCCCAGAACCTCGCT	0.726																																						uc002sna.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(124-126)AGA>TGA		semaphorin W precursor							7.0	9.0	8.0					2																	74881627		2116	4132	6248	SO:0001587	stop_gained	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74881627A>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.124A>T	2.37:g.74881627A>T	ENSP00000350547:p.Arg42*					SEMA4F_uc010ysb.1_Nonsense_Mutation_p.R42*|SEMA4F_uc010ffq.1_Nonsense_Mutation_p.R42*|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Nonsense_Mutation_p.R42*	p.R42*	NM_004263	NP_004254	O95754	SEM4F_HUMAN			1	235	+			42			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Nonsense_Mutation	SNP	ENST00000357877.2	37	c.124A>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.961256	0.92791	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	.	.	.	3.86	2.64	0.31445	.	0.913135	0.09218	N	0.832225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	7.0808	0.25229	0.7681:0.2319:0.0:0.0	.	.	.	.	X	42	.	ENSP00000342675:R42X	R	+	1	2	SEMA4F	74735135	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	1.582000	0.36568	0.618000	0.30179	0.260000	0.18958	AGA		PASS	0.726	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		15	24	15	24	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79254179	79254179	+	Missense_Mutation	SNP	C	C	A	rs115709602	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:79254179C>A	ENST00000272324.5	+	4	399	c.215C>A	c.(214-216)cCc>cAc	p.P72H	REG3G_ENST00000393897.2_Missense_Mutation_p.P72H|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	72	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P72H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGAAGCGGCCCTCTGGAAAA	0.557																																						uc002snw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)CCC>CAC		regenerating islet-derived 3 gamma precursor							137.0	134.0	135.0					2																	79254179		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254179C>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.215C>A	2.37:g.79254179C>A	ENSP00000272324:p.Pro72His					REG3G_uc002snx.2_Missense_Mutation_p.P72H|REG3G_uc010ffu.2_Intron	p.P72H	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	300	+			72			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.215C>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375399	0.24857	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.18174	2.23;2.23	4.83	2.01	0.26516	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.704642	0.12952	N	0.425749	T	0.23330	0.0564	L	0.43701	1.375	0.09310	N	1	D	0.54397	0.966	P	0.60541	0.876	T	0.11916	-1.0568	10	0.27082	T	0.32	.	4.2395	0.10642	0.1815:0.628:0.0:0.1904	.	72	Q6UW15	REG3G_HUMAN	H	72	ENSP00000377475:P72H;ENSP00000272324:P72H	ENSP00000272324:P72H	P	+	2	0	REG3G	79107687	0.000000	0.05858	0.010000	0.14722	0.711000	0.40976	0.070000	0.14573	0.316000	0.23135	0.655000	0.94253	CCC		PASS	0.557	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		78	130	78	130	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79971647	79971647	+	Silent	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:79971647T>A	ENST00000402739.4	+	2	242	c.237T>A	c.(235-237)gcT>gcA	p.A79A	CTNNA2_ENST00000361291.4_Silent_p.A113A|CTNNA2_ENST00000540488.1_Silent_p.A79A|CTNNA2_ENST00000496558.1_Silent_p.A79A|CTNNA2_ENST00000466387.1_Silent_p.A79A|CTNNA2_ENST00000541047.1_Silent_p.A79A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	79					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A79A(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACAGATCGCTAAGGAGAGTC	0.453																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(235-237)GCT>GCA		catenin, alpha 2 isoform 1							92.0	94.0	93.0					2																	79971647		1985	4177	6162	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971647T>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.237T>A	2.37:g.79971647T>A						CTNNA2_uc010yse.1_Silent_p.A79A|CTNNA2_uc010ysf.1_Silent_p.A79A|CTNNA2_uc010ysg.1_Silent_p.A79A	p.A79A	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	242	+			79					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.237T>A																																																																																					PASS	0.453	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		18	39	18	39	---	---	---	---
IGKV3-20	28912	broad.mit.edu	37	2	89442273	89442273	+	RNA	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:89442273C>A	ENST00000492167.1	-	0	183									immunoglobulin kappa variable 3-20																		TCTGACTGGCCCTGCAGGAGA	0.552																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							73.0	73.0	73.0					2																	89442273		1968	4160	6128			0							g.chr2:89442273C>A	X12686		2p11.2	2012-02-08			ENSG00000239951	ENSG00000239951		"""Immunoglobulins / IGK locus"""	5817	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151639		2.37:g.89442273C>A						uc002stl.2_Intron								33		-									RNA	SNP	ENST00000492167.1	37	c.4144G>T																																																																																					PASS	0.552	IGKV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323388.1	NG_000834		60	93	60	93	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98409296	98409296	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:98409296C>T	ENST00000186436.5	-	31	3925	c.3697G>A	c.(3697-3699)Gaa>Aaa	p.E1233K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1233						integral component of membrane (GO:0016021)		p.E1233K(1)|p.E1120K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGACGTTTTCCACGTCAGCT	0.512																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3697-3699)GAA>AAA		RW1 protein							124.0	109.0	114.0					2																	98409296		2154	4270	6424	SO:0001583	missense	23505					integral to membrane		g.chr2:98409296C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3697G>A	2.37:g.98409296C>T	ENSP00000186436:p.Glu1233Lys						p.E1233K	NM_015348	NP_056163	Q92545	TM131_HUMAN			31	3926	-			1233						Missense_Mutation	SNP	ENST00000186436.5	37	c.3697G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760885	0.69763	.	.	ENSG00000075568	ENST00000186436	T	0.31510	1.49	6.03	5.13	0.70059	.	0.638861	0.18198	N	0.148618	T	0.29126	0.0724	L	0.50333	1.59	0.80722	D	1	B	0.21821	0.061	B	0.23275	0.045	T	0.09885	-1.0654	10	0.07990	T	0.79	-5.3095	16.7628	0.85516	0.0:0.8707:0.1293:0.0	.	1233	Q92545	TM131_HUMAN	K	1233	ENSP00000186436:E1233K	ENSP00000186436:E1233K	E	-	1	0	TMEM131	97775728	0.999000	0.42202	0.996000	0.52242	0.999000	0.98932	3.070000	0.50033	1.491000	0.48482	0.655000	0.94253	GAA		PASS	0.512	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		6	64	6	64	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112539964	112539964	+	Silent	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:112539964A>T	ENST00000341068.3	-	43	5956	c.5184T>A	c.(5182-5184)tcT>tcA	p.S1728S		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1728					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)		p.S1728S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCGGGCTTCAGAGTTCCTGT	0.433																																						uc002thi.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(5182-5184)TCT>TCA		anaphase promoting complex subunit 1							13.0	15.0	14.0					2																	112539964		2179	4276	6455	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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		g.chr2:112539964A>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5184T>A	2.37:g.112539964A>T							p.S1728S	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			43	5431	-			1728					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.5184T>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	A	9.406	1.079337	0.20227	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.24	0.379	0.16213	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.449	3.1516	0.06490	0.4771:0.0:0.2355:0.2874	.	.	.	.	R	1263	.	.	X	-	1	0	ANAPC1	112256435	0.055000	0.20627	1.000000	0.80357	0.955000	0.61496	-0.523000	0.06230	0.121000	0.18284	0.397000	0.26171	TGA		PASS	0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		7	62	7	62	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133542370	133542370	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:133542370C>T	ENST00000409261.1	-	14	2387	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D672N|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	672								p.D672N(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTTCCGCATCAAATATCACA	0.443																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2014-2016)GAT>AAT		Nck-associated protein 5 isoform 1							124.0	120.0	122.0					2																	133542370		1890	4110	6000	SO:0001583	missense	344148						protein binding	g.chr2:133542370C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2014G>A	2.37:g.133542370C>T	ENSP00000387128:p.Asp672Asn					NCKAP5_uc002ttq.2_Intron	p.D672N	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2388	-			672					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2014G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.299285	0.81136	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.44482	0.92;0.92	5.64	5.64	0.86602	.	0.000000	0.39909	U	0.001240	T	0.50000	0.1590	L	0.34521	1.04	0.80722	D	1	P	0.51537	0.946	P	0.55667	0.781	T	0.48234	-0.9053	10	0.87932	D	0	.	18.0683	0.89398	0.0:1.0:0.0:0.0	.	672	O14513	NCKP5_HUMAN	N	672	ENSP00000387128:D672N;ENSP00000380603:D672N	ENSP00000380603:D672N	D	-	1	0	NCKAP5	133258840	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.625000	0.61262	2.937000	0.99478	0.651000	0.88453	GAT		PASS	0.443	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		94	132	94	132	---	---	---	---
CXCR4	7852	broad.mit.edu	37	2	136873260	136873260	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:136873260G>A	ENST00000241393.3	-	2	342	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	CXCR4_ENST00000409817.1_Silent_p.L84L|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	80					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.L84L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GCCACTGACAGGTGCAGCCTG	0.512																																						uc002tuz.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(238-240)CTG>TTG		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						177.0	168.0	171.0					2																	136873260		2203	4300	6503	SO:0001819	synonymous_variant	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873260G>A	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.238C>T	2.37:g.136873260G>A						CXCR4_uc002tuy.2_Silent_p.L84L|CXCR4_uc010fnk.2_Silent_p.L65L	p.L80L	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	333	-			80			Helical; Name=2.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	ENST00000241393.3	37	c.238C>T	CCDS46420.1																																																																																				PASS	0.512	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			14	216	14	216	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152487332	152487332	+	Splice_Site	SNP	C	C	T	rs111841612		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:152487332C>T	ENST00000172853.10	-	63	9038	c.8891G>A	c.(8890-8892)cGt>cAt	p.R2964H	NEB_ENST00000409198.1_Splice_Site_p.R2964H|NEB_ENST00000427231.2_Splice_Site_p.R3207H|NEB_ENST00000603639.1_Splice_Site_p.R3207H|NEB_ENST00000604864.1_Splice_Site_p.R3207H|NEB_ENST00000397345.3_Splice_Site_p.R3207H			P20929	NEBU_HUMAN	nebulin	2964					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.R3207H(1)|p.R2964H(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTATAAACGCTATAAAAG	0.318													.|||	1	0.000199681	0.0	0.0	5008	,	,		18854	0.0		0.001	False		,,,				2504	0.0					uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(8890-8892)CGT>CAT		nebulin isoform 3		C	HIS/ARG,HIS/ARG,HIS/ARG	0,3676		0,0,1838	91.0	75.0	80.0		9620,9620,8891	3.8	1.0	2	dbSNP_132	80	2,8212		0,2,4105	yes	missense-near-splice,missense-near-splice,missense-near-splice	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,2,5943	TT,TC,CC		0.0243,0.0,0.0168	probably-damaging,probably-damaging,probably-damaging	3207/8526,3207/8526,2964/6670	152487332	2,11888	1838	4107	5945	SO:0001630	splice_region_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.chr2:152487332C>T	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.8890-1G>A	2.37:g.152487332C>T						NEB_uc002txu.2_Missense_Mutation_p.R311H	p.R2964H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	63	9082	-			2964			Nebulin 80.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8891G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.40	2.823299	0.50739	0.0	2.43E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.6	3.81	0.43845	.	0.061297	0.64402	D	0.000005	T	0.62356	0.2421	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.60642	-0.7223	10	0.41790	T	0.15	.	12.7641	0.57383	0.0:0.8661:0.0:0.1339	.	2964	P20929	NEBU_HUMAN	H	2964;3207;3207;2964	ENSP00000386259:R2964H;ENSP00000380505:R3207H;ENSP00000416578:R3207H;ENSP00000172853:R2964H	ENSP00000172853:R2964H	R	-	2	0	NEB	152195578	0.002000	0.14202	0.979000	0.43373	0.362000	0.29581	0.242000	0.18087	0.839000	0.34971	0.563000	0.77884	CGT		PASS	0.318	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Missense_Mutation	3	19	3	19	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166744965	166744965	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:166744965C>T	ENST00000243344.7	-	25	3420	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	TTC21B_ENST00000536175.1_Missense_Mutation_p.E33K	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1095					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.E1095K(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGCACAGATTCTTGCTTCTCA	0.348																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(3283-3285)GAA>AAA		tetratricopeptide repeat domain 21B							75.0	67.0	70.0					2																	166744965		2202	4299	6501	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166744965C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3283G>A	2.37:g.166744965C>T	ENSP00000243344:p.Glu1095Lys					TTC21B_uc002udj.1_RNA	p.E1095K	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			25	3416	-			1095					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3283G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954752	0.92726	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.65364	-0.15;0.06	5.89	5.89	0.94794	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.80982	2.52	0.80722	D	1	D	0.54964	0.969	P	0.55923	0.787	T	0.76372	-0.2983	10	0.40728	T	0.16	-21.2891	20.2361	0.98357	0.0:1.0:0.0:0.0	.	1095	Q7Z4L5	TT21B_HUMAN	K	33;1095	ENSP00000438692:E33K;ENSP00000243344:E1095K	ENSP00000243344:E1095K	E	-	1	0	TTC21B	166453211	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.081000	0.71309	2.791000	0.96007	0.591000	0.81541	GAA		PASS	0.348	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		5	78	5	78	---	---	---	---
KLHL23	151230	broad.mit.edu	37	2	170591838	170591838	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:170591838G>T	ENST00000392647.2	+	2	558	c.314G>T	c.(313-315)aGa>aTa	p.R105I	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.R105I	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	105								p.R105I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						ATAACTAAAAGAAATGTTCAA	0.363																																						uc002ufh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)AGA>ATA		kelch-like 23							63.0	67.0	65.0					2																	170591838		2201	4300	6501	SO:0001583	missense	151230							g.chr2:170591838G>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.314G>T	2.37:g.170591838G>T	ENSP00000376419:p.Arg105Ile					KLHL23_uc002ufi.1_Missense_Mutation_p.R105I	p.R105I	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN			4	652	+			105					Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.314G>T	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760305	0.49468	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.67345	-0.26;-0.26	5.81	5.81	0.92471	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.148266	0.64402	D	0.000008	T	0.69115	0.3075	L	0.42245	1.32	0.33347	D	0.570527	P	0.39847	0.691	P	0.45538	0.484	T	0.69304	-0.5180	9	0.52906	T	0.07	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	105	Q8NBE8	KLH23_HUMAN	I	105	ENSP00000272797:R105I;ENSP00000376419:R105I	ENSP00000272797:R105I	R	+	2	0	KLHL23	170300084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.734000	0.47368	2.738000	0.93877	0.655000	0.94253	AGA		PASS	0.363	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		51	81	51	81	---	---	---	---
DLX2	1746	broad.mit.edu	37	2	172967087	172967087	+	Silent	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:172967087G>T	ENST00000234198.4	-	1	541	c.180C>A	c.(178-180)acC>acA	p.T60T	DLX2_ENST00000466293.2_Silent_p.T60T|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	60					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)	p.T60T(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGTCGGTGGCGGTGGACACCG	0.731																																					GBM(188;775 2993 11256 23072)	uc002uhn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(178-180)ACC>ACA		distal-less homeobox 2							20.0	22.0	21.0					2																	172967087		2159	4208	6367	SO:0001819	synonymous_variant	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967087G>T	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.180C>A	2.37:g.172967087G>T						DLX2_uc010zdx.1_Silent_p.T60T	p.T60T	NM_004405	NP_004396	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	392	-			60					B4DMK4|B7ZA14	Silent	SNP	ENST00000234198.4	37	c.180C>A	CCDS2248.1																																																																																				PASS	0.731	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			9	9	9	9	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098815	178098815	+	Missense_Mutation	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:178098815T>C	ENST00000397062.3	-	2	784	c.230A>G	c.(229-231)gAt>gGt	p.D77G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D61G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D61G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D61G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D61G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	77					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D77V(3)|p.D77G(3)|p.D77A(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TGTCTCTTCATCTAGTTGTAA	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		8	Substitution - Missense(8)		lung(5)|oesophagus(3)	central_nervous_system(1)	1						c.(229-231)GAT>GGT		nuclear factor erythroid 2-like 2 isoform 1							150.0	148.0	148.0					2																	178098815		1896	4105	6001	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098815T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.230A>G	2.37:g.178098815T>C	ENSP00000380252:p.Asp77Gly	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D61G|NFE2L2_uc010zfa.1_Missense_Mutation_p.D61G|NFE2L2_uc002uli.3_Missense_Mutation_p.D61G|NFE2L2_uc010fra.2_Missense_Mutation_p.D61G|NFE2L2_uc010frb.2_Missense_Mutation_p.D61G	p.D77G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	785	-			77					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.230A>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572113	0.65765	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.998	T	0.69461	-0.5139	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	61;61;61;77	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	61;77;61;61;61;61;61	ENSP00000380253:D61G;ENSP00000380252:D77G;ENSP00000411575:D61G;ENSP00000391590:D61G;ENSP00000400073:D61G;ENSP00000412191:D61G;ENSP00000410015:D61G	ENSP00000380252:D77G	D	-	2	0	NFE2L2	177807061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAT		PASS	0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		54	79	54	79	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179441890	179441890	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:179441890T>A	ENST00000591111.1	-	274	64473	c.64249A>T	c.(64249-64251)Aca>Tca	p.T21417S	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T14118S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13993S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T14185S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T23058S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T20490S			Q8WZ42	TITIN_HUMAN	titin	21417	Fibronectin type-III 55. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T14118S(1)|p.T20490S(1)|p.T14185S(1)|p.T20488S(1)|p.T13993S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTAAGTGTTGCTTTTTCA	0.458																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(61468-61470)ACA>TCA		titin isoform N2-A							64.0	63.0	64.0					2																	179441890		1955	4143	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441890T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64249A>T	2.37:g.179441890T>A	ENSP00000465570:p.Thr21417Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T14185S|TTN_uc010zfi.1_Missense_Mutation_p.T14118S|TTN_uc010zfj.1_Missense_Mutation_p.T13993S|uc002umv.1_5'Flank	p.T20490S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61692	-			21417					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.61468A>T		.	.	.	.	.	.	.	.	.	.	T	13.63	2.294418	0.40594	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.71	4.52	0.55395	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59905	0.2228	L	0.46567	1.45	0.45490	D	0.998456	D;D;D;D	0.61080	0.989;0.989;0.989;0.979	P;P;P;P	0.57283	0.817;0.817;0.817;0.752	T	0.62632	-0.6813	9	0.87932	D	0	.	12.1709	0.54157	0.0:0.0677:0.0:0.9323	.	13993;14118;14185;21417	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20490;13993;14185;14118;13991	ENSP00000343764:T20490S;ENSP00000434586:T13993S;ENSP00000340554:T14185S;ENSP00000352154:T14118S	ENSP00000340554:T14185S	T	-	1	0	TTN	179150136	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.232000	0.72313	1.058000	0.40530	0.528000	0.53228	ACA		PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	54	34	54	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179575470	179575470	+	Missense_Mutation	SNP	C	C	T	rs527663092		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:179575470C>T	ENST00000591111.1	-	96	27627	c.27403G>A	c.(27403-27405)Gcc>Acc	p.A9135T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9452T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8208T			Q8WZ42	TITIN_HUMAN	titin	13266	Ig-like 74.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A8208T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAGGTGGGCGCTGTTTTCC	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17618	0.0		0.0	False		,,,				2504	0.0					uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24622-24624)GCC>ACC		titin isoform N2-A							160.0	153.0	155.0					2																	179575470		1937	4145	6082	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575470C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27403G>A	2.37:g.179575470C>T	ENSP00000465570:p.Ala9135Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A4869T	p.A8208T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	24846	-			9135					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24622G>A		.	.	.	.	.	.	.	.	.	.	C	14.88	2.667581	0.47677	.	.	ENSG00000155657	ENST00000342992	T	0.41065	1.01	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32436	0.0829	L	0.31578	0.945	0.80722	D	1	B	0.29115	0.233	B	0.20384	0.029	T	0.10314	-1.0635	9	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	9135	Q8WZ42	TITIN_HUMAN	T	8208	ENSP00000343764:A8208T	ENSP00000343764:A8208T	A	-	1	0	TTN	179283715	0.673000	0.27539	0.996000	0.52242	0.966000	0.64601	1.121000	0.31283	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	111	64	111	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179598145	179598145	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:179598145G>A	ENST00000591111.1	-	52	15148	c.14924C>T	c.(14923-14925)cCc>cTc	p.P4975L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P5292L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P4048L			Q8WZ42	TITIN_HUMAN	titin	12354	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P4048L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCATTTGGGCTTCAGTTC	0.478																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12142-12144)CCC>CTC		titin isoform N2-A							142.0	142.0	142.0					2																	179598145		1901	4131	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598145G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14924C>T	2.37:g.179598145G>A	ENSP00000465570:p.Pro4975Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P709L	p.P4048L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		51	12367	-			4975					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12143C>T		.	.	.	.	.	.	.	.	.	.	G	12.58	1.980250	0.34942	.	.	ENSG00000155657	ENST00000342992	T	0.64438	-0.1	5.86	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40645	0.1125	N	0.04508	-0.205	0.80722	D	1	B	0.16802	0.019	B	0.18871	0.023	T	0.35301	-0.9794	9	0.87932	D	0	.	11.1651	0.48539	0.1405:0.0:0.8595:0.0	.	4975	Q8WZ42	TITIN_HUMAN	L	4048	ENSP00000343764:P4048L	ENSP00000343764:P4048L	P	-	2	0	TTN	179306390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.298000	0.65710	1.479000	0.48272	0.655000	0.94253	CCC		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		102	170	102	170	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179656920	179656920	+	Missense_Mutation	SNP	C	C	A	rs139178471		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:179656920C>A	ENST00000591111.1	-	10	1765	c.1541G>T	c.(1540-1542)aGa>aTa	p.R514I	TTN_ENST00000359218.5_Missense_Mutation_p.R514I|TTN_ENST00000460472.2_Missense_Mutation_p.R514I|TTN_ENST00000342175.6_Missense_Mutation_p.R514I|TTN_ENST00000589042.1_Missense_Mutation_p.R514I|TTN_ENST00000360870.5_Missense_Mutation_p.R514I|TTN_ENST00000342992.6_Missense_Mutation_p.R514I			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R514I(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTCTTTTCTTATCTGCAA	0.284																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1540-1542)AGA>ATA		titin isoform N2-A							64.0	66.0	66.0					2																	179656920		2200	4296	6496	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179656920C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1541G>T	2.37:g.179656920C>A	ENSP00000465570:p.Arg514Ile					TTN_uc010zfh.1_Missense_Mutation_p.R514I|TTN_uc010zfi.1_Missense_Mutation_p.R514I|TTN_uc010zfj.1_Missense_Mutation_p.R514I|TTN_uc002unb.2_Missense_Mutation_p.R514I|TTN_uc010frg.1_Missense_Mutation_p.R188I	p.R514I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		10	1765	-			514					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1541G>T		.	.	.	.	.	.	.	.	.	.	C	14.19	2.460667	0.43736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	5.88	5.88	0.94601	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67515	0.2901	L	0.32530	0.975	0.42188	D	0.991717	D;D;D;D;D	0.76494	0.996;0.996;0.996;0.996;0.999	D;D;D;D;D	0.83275	0.99;0.99;0.99;0.99;0.996	T	0.69785	-0.5051	9	0.87932	D	0	.	15.7442	0.77926	0.0:1.0:0.0:0.0	.	514;514;514;514;514	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	514;514;514;514;514;514;110	ENSP00000343764:R514I;ENSP00000434586:R514I;ENSP00000340554:R514I;ENSP00000352154:R514I;ENSP00000354117:R514I;ENSP00000405517:R110I	ENSP00000340554:R514I	R	-	2	0	TTN	179365165	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.100000	0.57762	2.774000	0.95407	0.655000	0.94253	AGA		PASS	0.284	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	40	31	40	---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182388249	182388249	+	Missense_Mutation	SNP	A	A	G	rs201758248		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:182388249A>G	ENST00000397033.2	+	19	2589	c.2159A>G	c.(2158-2160)cAt>cGt	p.H720R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	720					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.H720R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATGTAGATCATCTCTCAAGG	0.328																																						uc002unu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2158-2160)CAT>CGT		integrin alpha 4 precursor	Natalizumab(DB00108)						118.0	114.0	116.0					2																	182388249		1849	4093	5942	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182388249A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2159A>G	2.37:g.182388249A>G	ENSP00000380227:p.His720Arg					ITGA4_uc010frj.1_Missense_Mutation_p.H202R|ITGA4_uc002unv.2_5'UTR	p.H720R	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		19	2922	+			720			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2159A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	2.827	-0.243440	0.05906	.	.	ENSG00000115232	ENST00000397033	T	0.47528	0.84	5.24	-0.0145	0.13980	Integrin alpha-2 (1);	0.416813	0.27311	N	0.019946	T	0.24353	0.0590	N	0.22421	0.69	0.22903	N	0.998583	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.16897	-1.0387	10	0.11485	T	0.65	.	5.6143	0.17422	0.5261:0.1383:0.3356:0.0	.	542;720	Q59H74;P13612	.;ITA4_HUMAN	R	720	ENSP00000380227:H720R	ENSP00000380227:H720R	H	+	2	0	ITGA4	182096494	0.966000	0.33281	0.998000	0.56505	0.982000	0.71751	1.624000	0.37018	0.046000	0.15833	0.477000	0.44152	CAT		PASS	0.328	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			35	48	35	48	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802960	185802960	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:185802960A>T	ENST00000302277.6	+	4	3431	c.2837A>T	c.(2836-2838)aAt>aTt	p.N946I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	946							metal ion binding (GO:0046872)	p.N946I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATAAATCTTAATGAAAAGCAA	0.398																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2836-2838)AAT>ATT		zinc finger protein 804A							72.0	72.0	72.0					2																	185802960		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802960A>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2837A>T	2.37:g.185802960A>T	ENSP00000303252:p.Asn946Ile						p.N946I	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3431	+			946					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2837A>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	9.075	0.997942	0.19043	.	.	ENSG00000170396	ENST00000302277	T	0.06218	3.33	5.41	-1.24	0.09435	.	0.712376	0.12950	N	0.425891	T	0.07234	0.0183	L	0.36672	1.1	0.09310	N	1	B	0.28512	0.214	B	0.34873	0.191	T	0.35276	-0.9795	10	0.56958	D	0.05	-5.3622	12.3557	0.55174	0.4977:0.0:0.5023:0.0	.	946	Q7Z570	Z804A_HUMAN	I	946	ENSP00000303252:N946I	ENSP00000303252:N946I	N	+	2	0	ZNF804A	185511205	0.000000	0.05858	0.028000	0.17463	0.605000	0.37080	-0.268000	0.08607	-0.166000	0.10890	0.383000	0.25322	AAT		PASS	0.398	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		44	65	44	65	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189857616	189857616	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:189857616C>A	ENST00000304636.3	+	15	1170	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T	COL3A1_ENST00000317840.5_Missense_Mutation_p.P334T	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	334	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P334T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTTTCAGGGCCCTCCTGGTCC	0.383																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1000-1002)CCT>ACT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						86.0	95.0	92.0					2																	189857616		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189857616C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1000C>A	2.37:g.189857616C>A	ENSP00000304408:p.Pro334Thr					COL3A1_uc010frw.1_RNA	p.P334T	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		15	1117	+			334			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1000C>A	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.338713|3.338713	0.60963|0.60963	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000450867|ENST00000304636;ENST00000317840	.|D;D	.|0.96856	.|-4.15;-4.15	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|0.000000	0.48767|0.48767	D|D	0.000164|0.000164	D|D	0.97451|0.97451	0.9166|0.9166	M|M	0.72118|0.72118	2.19|2.19	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.58268	.|0.982	.|P	.|0.62813	.|0.907	D|D	0.97051|0.97051	0.9764|0.9764	6|10	.|0.46703	.|T	.|0.11	.|.	15.5263|15.5263	0.75910|0.75910	0.0:0.8625:0.1375:0.0|0.0:0.8625:0.1375:0.0	.|.	.|334	.|P02461	.|CO3A1_HUMAN	H|T	33|334	.|ENSP00000304408:P334T;ENSP00000315243:P334T	.|ENSP00000304408:P334T	P|P	+|+	2|1	0|0	COL3A1|COL3A1	189565861|189565861	0.995000|0.995000	0.38212|0.38212	0.816000|0.816000	0.32577|0.32577	0.902000|0.902000	0.53008|0.53008	3.584000|3.584000	0.53936|0.53936	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	CCC|CCT		PASS	0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		58	101	58	101	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196664156	196664156	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:196664156C>T	ENST00000312428.6	-	55	10317	c.10217G>A	c.(10216-10218)gGa>gAa	p.G3406E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3406	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G3406E(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATGCACGTCCCAATCTGTT	0.403																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(10216-10218)GGA>GAA		dynein, axonemal, heavy chain 7							94.0	96.0	95.0					2																	196664156		1854	4097	5951	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196664156C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10217G>A	2.37:g.196664156C>T	ENSP00000311273:p.Gly3406Glu						p.G3406E	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			55	10318	-			3406			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10217G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318726	0.60524	.	.	ENSG00000118997	ENST00000312428	T	0.13657	2.57	5.07	5.07	0.68467	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.90483	3.12	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	T	0.52351	-0.8587	10	0.51188	T	0.08	.	18.2292	0.89928	0.0:1.0:0.0:0.0	.	3406	Q8WXX0	DYH7_HUMAN	E	3406	ENSP00000311273:G3406E	ENSP00000311273:G3406E	G	-	2	0	DNAH7	196372401	1.000000	0.71417	0.824000	0.32777	0.096000	0.18686	5.790000	0.69038	2.619000	0.88677	0.557000	0.71058	GGA		PASS	0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		59	84	59	84	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196825095	196825095	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:196825095G>T	ENST00000312428.6	-	18	2880	c.2780C>A	c.(2779-2781)aCa>aAa	p.T927K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	927	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.T927K(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAATAAATGTCCCAGTTTC	0.368																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(2779-2781)ACA>AAA		dynein, axonemal, heavy chain 7							122.0	120.0	121.0					2																	196825095		1859	4106	5965	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825095G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2780C>A	2.37:g.196825095G>T	ENSP00000311273:p.Thr927Lys						p.T927K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			18	2881	-			927			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2780C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873096	0.72180	.	.	ENSG00000118997	ENST00000312428	T	0.62232	0.04	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	2.542860	0.01377	N	0.012763	D	0.85535	0.5719	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70051	-0.4978	10	0.54805	T	0.06	.	19.7123	0.96100	0.0:0.0:1.0:0.0	.	927	Q8WXX0	DYH7_HUMAN	K	927	ENSP00000311273:T927K	ENSP00000311273:T927K	T	-	2	0	DNAH7	196533340	1.000000	0.71417	0.970000	0.41538	0.894000	0.52154	4.087000	0.57671	2.661000	0.90470	0.585000	0.79938	ACA		PASS	0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		95	163	95	163	---	---	---	---
FZD7	8324	broad.mit.edu	37	2	202899509	202899509	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:202899509G>T	ENST00000286201.1	+	1	200	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	47	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G47C(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCCGGACCACGGCTTCTGCCA	0.697																																						uc002uyw.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(139-141)GGC>TGC		frizzled 7 precursor							105.0	91.0	96.0					2																	202899509		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202899509G>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.139G>T	2.37:g.202899509G>T	ENSP00000286201:p.Gly47Cys						p.G47C	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	200	+			47			FZ.|Extracellular (Potential).		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.139G>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915909	0.73098	.	.	ENSG00000155760	ENST00000286201	T	0.76578	-1.03	4.51	4.51	0.55191	Frizzled domain (3);	0.000000	0.85682	D	0.000000	D	0.90120	0.6913	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92438	0.5959	10	0.66056	D	0.02	.	17.2167	0.86946	0.0:0.0:1.0:0.0	.	47	O75084	FZD7_HUMAN	C	47	ENSP00000286201:G47C	ENSP00000286201:G47C	G	+	1	0	FZD7	202607754	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.738000	0.98835	2.037000	0.60232	0.313000	0.20887	GGC		PASS	0.697	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		51	79	51	79	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211471664	211471664	+	Splice_Site	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:211471664G>T	ENST00000233072.5	+	18	2387	c.2191G>T	c.(2191-2193)Ggc>Tgc	p.G731C	CPS1_ENST00000430249.2_Splice_Site_p.G737C|CPS1_ENST00000451903.2_Splice_Site_p.G280C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	731	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.G731C(1)|p.G737C(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAAGCCACTGGGTAAGACCA	0.418																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2191-2193)GGC>TGC		carbamoyl-phosphate synthetase 1 isoform b							54.0	51.0	52.0					2																	211471664		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211471664G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2192+1G>T	2.37:g.211471664G>T						CPS1_uc010fur.2_Missense_Mutation_p.G737C|CPS1_uc010fus.2_Missense_Mutation_p.G280C	p.G731C	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	18	2323	+			731			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2191G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475940	0.84640	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.99571	-6.19;-6.19;-6.19	5.77	5.77	0.91146	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96563	0.9417	10	0.87932	D	0	-8.7926	19.9792	0.97320	0.0:0.0:1.0:0.0	.	741;731	Q59HF8;P31327	.;CPSM_HUMAN	C	737;739;731;280	ENSP00000402608:G737C;ENSP00000233072:G731C;ENSP00000406136:G280C	ENSP00000233072:G731C	G	+	1	0	CPS1	211179909	1.000000	0.71417	0.999000	0.59377	0.788000	0.44548	9.476000	0.97823	2.727000	0.93392	0.591000	0.81541	GGC		PASS	0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	34	52	34	52	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211512690	211512690	+	Missense_Mutation	SNP	A	A	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:211512690A>C	ENST00000233072.5	+	26	3441	c.3245A>C	c.(3244-3246)cAg>cCg	p.Q1082P	CPS1_ENST00000430249.2_Missense_Mutation_p.Q1088P|CPS1_ENST00000451903.2_Missense_Mutation_p.Q631P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1082					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.Q1088P(1)|p.Q1082P(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGCCCCCTGCAGATCGACAGG	0.507																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3244-3246)CAG>CCG		carbamoyl-phosphate synthetase 1 isoform b							113.0	105.0	108.0					2																	211512690		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211512690A>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3245A>C	2.37:g.211512690A>C	ENSP00000233072:p.Gln1082Pro					CPS1_uc010fur.2_Missense_Mutation_p.Q1088P|CPS1_uc010fus.2_Missense_Mutation_p.Q631P	p.Q1082P	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	26	3377	+			1082					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3245A>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052627	0.55218	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97553	-4.43;-4.43;-4.43	5.9	5.9	0.94986	PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	L	0.54323	1.7	0.58432	D	0.999998	P;P	0.41546	0.754;0.754	P;P	0.45506	0.483;0.483	D	0.95311	0.8412	10	0.26408	T	0.33	-8.2535	16.3232	0.82961	1.0:0.0:0.0:0.0	.	1092;1082	Q59HF8;P31327	.;CPSM_HUMAN	P	1088;1090;1082;631	ENSP00000402608:Q1088P;ENSP00000233072:Q1082P;ENSP00000406136:Q631P	ENSP00000233072:Q1082P	Q	+	2	0	CPS1	211220935	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.962000	0.93254	2.254000	0.74563	0.482000	0.46254	CAG		PASS	0.507	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			38	90	38	90	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212989506	212989506	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:212989506C>T	ENST00000342788.4	-	2	515	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ERBB4_ENST00000402597.1_Missense_Mutation_p.E69K|ERBB4_ENST00000436443.1_Missense_Mutation_p.E69K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	69					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E69K(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CGGTTGTGCTCAATGCTGGTT	0.512										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(205-207)GAG>AAG		v-erb-a erythroblastic leukemia viral oncogene							151.0	130.0	137.0					2																	212989506		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212989506C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.205G>A	2.37:g.212989506C>T	ENSP00000342235:p.Glu69Lys	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.E69K|ERBB4_uc010zji.1_Missense_Mutation_p.E69K|ERBB4_uc010zjj.1_Missense_Mutation_p.E69K|ERBB4_uc010fut.1_Missense_Mutation_p.E69K	p.E69K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	2	303	-		Renal(323;0.06)|Lung NSC(271;0.197)	69			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.205G>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184775	0.57909	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.43	5.43	0.79202	EGF receptor, L domain (1);	0.106541	0.64402	D	0.000006	T	0.79713	0.4493	L	0.56769	1.78	0.54753	D	0.999988	P;B;P;P	0.46395	0.851;0.319;0.851;0.877	B;B;B;B	0.36186	0.14;0.047;0.14;0.219	T	0.79967	-0.1580	10	0.32370	T	0.25	.	19.241	0.93883	0.0:1.0:0.0:0.0	.	69;69;69;69	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	69;69;69;10	ENSP00000342235:E69K;ENSP00000403204:E69K;ENSP00000385565:E69K;ENSP00000405564:E10K	ENSP00000342235:E69K	E	-	1	0	ERBB4	212697751	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	7.769000	0.85360	2.548000	0.85928	0.655000	0.94253	GAG		PASS	0.512	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		33	58	33	58	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219892395	219892395	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:219892395G>A	ENST00000341552.5	-	13	2271	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	CCDC108_ENST00000441968.1_Missense_Mutation_p.L730F|CCDC108_ENST00000409865.3_Missense_Mutation_p.L719F|CCDC108_ENST00000453220.1_Missense_Mutation_p.L730F|CCDC108_ENST00000410037.1_Missense_Mutation_p.L665F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	730						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L730F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCTTCGAGCTCCACCGTG	0.612																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2188-2190)CTC>TTC		coiled-coil domain containing 108 isoform 1							82.0	85.0	84.0					2																	219892395		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892395G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2188C>T	2.37:g.219892395G>A	ENSP00000340776:p.Leu730Phe					CCDC108_uc010fwa.1_Missense_Mutation_p.L173F|CCDC108_uc010zkp.1_Missense_Mutation_p.L719F|CCDC108_uc010zkq.1_Missense_Mutation_p.L665F	p.L730F	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2272	-		Renal(207;0.0915)	730					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2188C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352958	0.61293	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.18016	2.28;2.28;2.28;2.24;2.25	5.18	5.18	0.71444	.	0.000000	0.40728	N	0.001029	T	0.39911	0.1096	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.13629	-1.0502	10	0.72032	D	0.01	-24.3284	12.231	0.54488	0.0772:0.0:0.9228:0.0	.	719;664;730	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	F	730;730;730;206;719;665;664	ENSP00000340776:L730F;ENSP00000413377:L730F;ENSP00000409117:L730F;ENSP00000386945:L719F;ENSP00000386258:L665F	ENSP00000340776:L730F	L	-	1	0	CCDC108	219600639	1.000000	0.71417	0.996000	0.52242	0.389000	0.30415	3.898000	0.56281	2.688000	0.91661	0.655000	0.94253	CTC		PASS	0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		5	203	5	203	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225367790	225367790	+	Splice_Site	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:225367790C>T	ENST00000264414.4	-	10	1716		c.e10-1		CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CACATTCAGTCTGTGGAGGAA	0.353																																						uc002vny.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.e10-1		cullin 3							210.0	193.0	199.0					2																	225367790		2203	4300	6503	SO:0001630	splice_region_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225367790C>T	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1378-1G>A	2.37:g.225367790C>T						CUL3_uc010zls.1_Splice_Site_p.T394_splice|CUL3_uc010fwy.1_Splice_Site_p.T466_splice|CUL3_uc002vnz.1_5'Flank	p.T460_splice	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	10	1762	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)						A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37	c.1378_splice	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717003	0.89205	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225076034	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	.		PASS	0.353	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Intron	125	187	125	187	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227895204	227895204	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:227895204C>T	ENST00000396625.3	-	41	4135	c.3928G>A	c.(3928-3930)Gga>Aga	p.G1310R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1310R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1310	Triple-helical region.				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.G1310R(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)		CCTTTGTATCCTGGAGGGCCT	0.532																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3928-3930)GGA>AGA		alpha 4 type IV collagen precursor							121.0	119.0	120.0					2																	227895204		1907	4116	6023	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227895204C>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.3928G>A	2.37:g.227895204C>T	ENSP00000379866:p.Gly1310Arg						p.G1310R	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)	41	4582	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1310			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3928G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009468	0.54361	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.45	5.45	0.79879	.	.	.	.	.	D	0.99638	0.9867	H	0.97516	4.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97662	1.0161	9	0.87932	D	0	.	14.7832	0.69781	0.0:1.0:0.0:0.0	.	1310	P53420	CO4A4_HUMAN	R	1310	ENSP00000379866:G1310R;ENSP00000328553:G1310R	ENSP00000328553:G1310R	G	-	1	0	COL4A4	227603448	0.999000	0.42202	0.971000	0.41717	0.682000	0.39822	4.199000	0.58426	2.566000	0.86566	0.609000	0.83330	GGA		PASS	0.532	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		99	130	99	130	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227942619	227942619	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:227942619C>A	ENST00000396625.3	-	25	2185	c.1978G>T	c.(1978-1980)Ggt>Tgt	p.G660C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G660C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	660	Triple-helical region.				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.G660C(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)		CCTTTCTGACCCTTCAAGCCA	0.458																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(1978-1980)GGT>TGT		alpha 4 type IV collagen precursor							21.0	23.0	22.0					2																	227942619		1803	4055	5858	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942619C>A		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.1978G>T	2.37:g.227942619C>A	ENSP00000379866:p.Gly660Cys						p.G660C	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)	25	2632	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	660			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1978G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195945	0.78902	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97906	-4.6;-4.6	5.82	5.82	0.92795	.	.	.	.	.	D	0.99269	0.9745	H	0.97491	4.015	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98883	1.0770	9	0.87932	D	0	.	17.8873	0.88861	0.0:1.0:0.0:0.0	.	660	P53420	CO4A4_HUMAN	C	660	ENSP00000379866:G660C;ENSP00000328553:G660C	ENSP00000328553:G660C	G	-	1	0	COL4A4	227650863	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.414000	0.52693	2.765000	0.95021	0.650000	0.86243	GGT		PASS	0.458	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		13	41	13	41	---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233410280	233410280	+	Silent	SNP	C	C	A	rs121912671		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:233410280C>A	ENST00000389494.3	+	12	1429	c.1408C>A	c.(1408-1410)Cga>Aga	p.R470R	CHRNG_ENST00000389492.3_Silent_p.R418R	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	470					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.R470R(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCTGGTGGGCCGAGTGCTGGA	0.632																																						uc002vsx.1																			2	Substitution - coding silent(2)		lung(2)		0	GRCh37	CM062515	CHRNG	M	rs121912671	c.(1408-1410)CGA>AGA		cholinergic receptor, nicotinic, gamma							94.0	67.0	76.0					2																	233410280		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233410280C>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1408C>A	2.37:g.233410280C>A						CHRNG_uc010fye.1_Silent_p.R418R	p.R470R	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	12	1429	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	470			Cytoplasmic (Potential).		B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.1408C>A	CCDS33400.1																																																																																				PASS	0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		29	42	29	42	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546384	233546384	+	Silent	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:233546384C>G	ENST00000264059.3	+	4	1152	c.675C>G	c.(673-675)ctC>ctG	p.L225L	snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000410095.1_Silent_p.L113L|EFHD1_ENST00000409708.1_Silent_p.L113L|EFHD1_ENST00000409613.1_Silent_p.L129L	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	225					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.L225L(1)		NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGAGGCGGCTCCGCCAGGCAG	0.562																																						uc002vtc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)CTC>CTG		EF-hand domain family, member D1							84.0	75.0	78.0					2																	233546384		2203	4300	6503	SO:0001819	synonymous_variant	80303						calcium ion binding|protein binding	g.chr2:233546384C>G		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.675C>G	2.37:g.233546384C>G						EFHD1_uc010fyf.2_Silent_p.L129L|EFHD1_uc002vtd.2_Silent_p.L113L	p.L225L	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	883	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	225					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Silent	SNP	ENST00000264059.3	37	c.675C>G	CCDS2497.1																																																																																				PASS	0.562	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		62	89	62	89	---	---	---	---
CAND2	23066	broad.mit.edu	37	3	12856708	12856708	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:12856708A>T	ENST00000456430.2	+	8	1116	c.1075A>T	c.(1075-1077)Atc>Ttc	p.I359F	CAND2_ENST00000295989.5_Missense_Mutation_p.I266F	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	359					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.I266F(1)|p.I359F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCCAAGTGCATCGCAGCCTT	0.602																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(1075-1077)ATC>TTC		TBP-interacting protein isoform 1							57.0	65.0	62.0					3																	12856708		2151	4253	6404	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856708A>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1075A>T	3.37:g.12856708A>T	ENSP00000387641:p.Ile359Phe					CAND2_uc003bxj.2_Missense_Mutation_p.I266F	p.I359F	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			8	1124	+			359			HEAT 8.		B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1075A>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629303	0.28978	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.68025	-0.3;-0.3	4.86	-9.71	0.00518	Armadillo-like helical (1);Armadillo-type fold (1);	1.038110	0.07630	N	0.928409	T	0.44074	0.1276	N	0.22421	0.69	0.46317	D	0.998987	B;B	0.14012	0.009;0.009	B;B	0.16722	0.016;0.015	T	0.08411	-1.0723	10	0.51188	T	0.08	-26.6343	6.5604	0.22483	0.0934:0.6205:0.067:0.2191	.	359;266	O75155;O75155-2	CAND2_HUMAN;.	F	266;359	ENSP00000295989:I266F;ENSP00000387641:I359F	ENSP00000295989:I266F	I	+	1	0	CAND2	12831708	0.000000	0.05858	0.003000	0.11579	0.601000	0.36947	-1.709000	0.01890	-2.677000	0.00410	-0.396000	0.06452	ATC		PASS	0.602	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		43	38	43	38	---	---	---	---
FBLN2	2199	broad.mit.edu	37	3	13659716	13659716	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:13659716G>T	ENST00000295760.7	+	6	1939	c.1870G>T	c.(1870-1872)Gtg>Ttg	p.V624L	FBLN2_ENST00000535798.1_Missense_Mutation_p.V650L|FBLN2_ENST00000404922.3_Missense_Mutation_p.V624L|FBLN2_ENST00000492059.1_Missense_Mutation_p.V624L	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	624	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.V624L(1)|p.V43L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATCAATACTGTGGGTTCTTA	0.632																																						uc011avb.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1870-1872)GTG>TTG		fibulin 2 isoform b precursor							94.0	101.0	99.0					3																	13659716		2071	4215	6286	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659716G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1870G>T	3.37:g.13659716G>T	ENSP00000295760:p.Val624Leu					FBLN2_uc011auz.1_Missense_Mutation_p.V650L|FBLN2_uc011ava.1_Missense_Mutation_p.V624L|FBLN2_uc011avc.1_Missense_Mutation_p.V624L	p.V624L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		6	1995	+			624			EGF-like 1; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1870G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	g	15.57	2.872109	0.51695	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.06	4.18	0.49190	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.244911	0.35291	N	0.003314	D	0.93963	0.8067	N	0.04746	-0.17	0.31389	N	0.678119	P;D;D	0.76494	0.883;0.999;0.999	P;D;D	0.81914	0.625;0.995;0.995	D	0.90125	0.4202	10	0.11794	T	0.64	.	13.4463	0.61142	0.0:0.1576:0.8424:0.0	.	624;624;650	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	L	650;624;624;624	ENSP00000445705:V650L;ENSP00000384169:V624L;ENSP00000295760:V624L;ENSP00000420042:V624L	ENSP00000295760:V624L	V	+	1	0	FBLN2	13634717	1.000000	0.71417	0.967000	0.41034	0.675000	0.39556	5.493000	0.66899	1.106000	0.41623	0.639000	0.83563	GTG		PASS	0.632	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		95	39	95	39	---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17053469	17053469	+	Missense_Mutation	SNP	C	C	G	rs140113907		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:17053469C>G	ENST00000418129.2	+	2	2718	c.2253C>G	c.(2251-2253)caC>caG	p.H751Q	PLCL2_ENST00000396755.2_Missense_Mutation_p.H751Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.H751Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	877	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.H751Q(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TATTTGTCCACGTGGCTATTA	0.468																																						uc011awc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2605-2607)CAC>CAG		phospholipase C-like 2 isoform 1		C	GLN/HIS,GLN/HIS	1,4405	2.1+/-5.4	0,1,2202	104.0	107.0	106.0		2635,2253	-3.7	1.0	3	dbSNP_134	106	0,8600		0,0,4300	no	missense,missense	PLCL2	NM_001144382.1,NM_015184.5	24,24	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	877/1128,751/1002	17053469	1,13005	2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17053469C>G	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2253C>G	3.37:g.17053469C>G	ENSP00000409637:p.His751Gln					PLCL2_uc011awd.1_Missense_Mutation_p.H751Q	p.H869Q	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	2712	+			877					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2607C>G	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.681098|3.681098	0.68042|0.68042	2.27E-4|2.27E-4	0.0|0.0	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.13901|.	2.55;2.55;2.55|.	5.74|5.74	-3.7|-3.7	0.04437|0.04437	C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63546|0.63546	0.2520|0.2520	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	T|T	0.63097|0.63097	-0.6713|-0.6713	9|4	0.62326|.	D|.	0.03|.	.|.	14.3757|14.3757	0.66874|0.66874	0.0:0.177:0.0:0.823|0.0:0.177:0.0:0.823	.|.	877|.	Q9UPR0|.	PLCL2_HUMAN|.	Q|R	751;878;751;751|495	ENSP00000409637:H751Q;ENSP00000379979:H751Q;ENSP00000412836:H751Q|.	ENSP00000285094:H878Q|.	H|T	+|+	3|2	2|0	PLCL2|PLCL2	17028473|17028473	0.793000|0.793000	0.28825|0.28825	0.954000|0.954000	0.39281|0.39281	0.956000|0.956000	0.61745|0.61745	-0.078000|-0.078000	0.11375|0.11375	-0.628000|-0.628000	0.05582|0.05582	-0.424000|-0.424000	0.05967|0.05967	CAC|ACG		PASS	0.468	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			84	38	84	38	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	61975462	61975462	+	Missense_Mutation	SNP	A	A	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:61975462A>C	ENST00000474889.1	+	3	731	c.354A>C	c.(352-354)aaA>aaC	p.K118N	PTPRG_ENST00000295874.10_Missense_Mutation_p.K118N	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	118	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K118N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCTGGATGAAAAACACAGGGA	0.423																																						uc003dlb.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(352-354)AAA>AAC		protein tyrosine phosphatase, receptor type, G							80.0	74.0	76.0					3																	61975462		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61975462A>C	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.354A>C	3.37:g.61975462A>C	ENSP00000418112:p.Lys118Asn					PTPRG_uc003dlc.2_Missense_Mutation_p.K118N	p.K118N	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	3	1073	+			118			Extracellular (Potential).|Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.354A>C	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748864	0.49257	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66815	-0.23;-0.23	5.92	3.56	0.40772	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.104676	0.64402	D	0.000004	T	0.77725	0.4173	M	0.67625	2.065	0.53005	D	0.999963	D;D	0.89917	1.0;0.957	D;P	0.83275	0.996;0.575	T	0.76594	-0.2902	10	0.62326	D	0.03	.	10.0748	0.42353	0.8646:0.0:0.1354:0.0	.	118;118	P23470-2;P23470	.;PTPRG_HUMAN	N	118	ENSP00000418112:K118N;ENSP00000295874:K118N	ENSP00000295874:K118N	K	+	3	2	PTPRG	61950502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.273000	0.33121	0.500000	0.27991	0.533000	0.62120	AAA		PASS	0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		12	38	12	38	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100962390	100962390	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:100962390G>T	ENST00000193391.7	-	13	2972	c.2785C>A	c.(2785-2787)Caa>Aaa	p.Q929K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	929	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.Q929K(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)	AAGAATCTTTGCTCCAGGGCT	0.408																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2785-2787)CAA>AAA		interphotoreceptor matrix proteoglycan 2							59.0	61.0	60.0					3																	100962390		2202	4300	6502	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100962390G>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.2785C>A	3.37:g.100962390G>T	ENSP00000193391:p.Gln929Lys					IMPG2_uc011bhe.1_Missense_Mutation_p.Q792K	p.Q929K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2988	-			929			Extracellular (Potential).|SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2785C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460311	0.63401	.	.	ENSG00000081148	ENST00000193391	T	0.36699	1.24	5.78	4.89	0.63831	SEA (3);	0.159370	0.44097	D	0.000489	T	0.53400	0.1794	M	0.66939	2.045	0.50467	D	0.999873	D;D	0.61080	0.989;0.978	P;P	0.57620	0.824;0.715	T	0.54563	-0.8275	10	0.40728	T	0.16	-4.0169	16.6437	0.85155	0.0:0.13:0.8699:0.0	.	929;929	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	929	ENSP00000193391:Q929K	ENSP00000193391:Q929K	Q	-	1	0	IMPG2	102445080	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	5.213000	0.65230	1.414000	0.47017	0.313000	0.20887	CAA		PASS	0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			20	14	20	14	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108183497	108183497	+	Silent	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:108183497A>G	ENST00000273353.3	-	16	1835	c.1779T>C	c.(1777-1779)caT>caC	p.H593H	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	593	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H593H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCCTGCATAATGGACAAGTT	0.413																																						uc003dxa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(1777-1779)CAT>CAC		myosin, heavy polypeptide 15							156.0	152.0	153.0					3																	108183497		1861	4101	5962	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108183497A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1779T>C	3.37:g.108183497A>G							p.H593H	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			16	1836	-			593			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.1779T>C	CCDS43127.1																																																																																				PASS	0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		186	61	186	61	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112357210	112357210	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:112357210G>T	ENST00000206423.3	-	2	2496	c.1543C>A	c.(1543-1545)Cct>Act	p.P515T	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.P515T	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	515	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.P515T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAGGCAGTAGGCCGGCTGAGG	0.488																																						uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1543-1545)CCT>ACT		steroid-sensitive protein 1 precursor							64.0	67.0	66.0					3																	112357210		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357210G>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1543C>A	3.37:g.112357210G>T	ENSP00000206423:p.Pro515Thr					CCDC80_uc011bhv.1_Missense_Mutation_p.P515T|CCDC80_uc003dzg.2_Missense_Mutation_p.P515T|CCDC80_uc003dzh.1_Missense_Mutation_p.P515T	p.P515T	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	1761	-			515			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1543C>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778204	0.70107	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.57752	0.38;0.38	5.78	5.78	0.91487	.	0.052892	0.85682	D	0.000000	T	0.59514	0.2199	L	0.34521	1.04	0.58432	D	0.999991	D;D;D	0.63046	0.992;0.986;0.986	P;P;P	0.59357	0.856;0.722;0.722	T	0.61681	-0.7013	10	0.87932	D	0	-8.3768	15.4972	0.75662	0.0:0.1378:0.8622:0.0	.	526;515;515	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	T	515;515;143	ENSP00000206423:P515T;ENSP00000411814:P515T	ENSP00000206423:P515T	P	-	1	0	CCDC80	113839900	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.691000	0.68249	2.741000	0.93983	0.555000	0.69702	CCT		PASS	0.488	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		31	173	31	173	---	---	---	---
HSPBAP1	79663	broad.mit.edu	37	3	122496727	122496727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:122496727C>A	ENST00000306103.2	-	2	234	c.91G>T	c.(91-93)Gag>Tag	p.E31*	HSPBAP1_ENST00000383659.1_Nonsense_Mutation_p.E31*|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	31						cytoplasm (GO:0005737)		p.E31*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TTTGCTTTCTCTGGCTTAAAA	0.343																																						uc003efu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(91-93)GAG>TAG		Hspb associated protein 1							120.0	109.0	113.0					3																	122496727		2203	4300	6503	SO:0001587	stop_gained	79663					cytoplasm		g.chr3:122496727C>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.91G>T	3.37:g.122496727C>A	ENSP00000302562:p.Glu31*					HSPBAP1_uc003efv.1_Nonsense_Mutation_p.E31*	p.E31*	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	2	214	-			31					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Nonsense_Mutation	SNP	ENST00000306103.2	37	c.91G>T	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	C	36	5.643288	0.96704	.	.	ENSG00000169087	ENST00000383659;ENST00000306103	.	.	.	5.21	5.21	0.72293	.	0.969624	0.08568	N	0.926539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.0564	0.80809	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000302562:E31X	E	-	1	0	HSPBAP1	123979417	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.215000	0.58534	2.693000	0.91896	0.650000	0.86243	GAG		PASS	0.343	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		17	33	17	33	---	---	---	---
ROPN1	54763	broad.mit.edu	37	3	123688018	123688018	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:123688018C>A	ENST00000184183.4	-	7	963	c.623G>T	c.(622-624)aGg>aTg	p.R208M	ROPN1_ENST00000405845.3_Missense_Mutation_p.R208M	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	208						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R208M(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CAGCTGAACCCTGGGGTTTTG	0.373																																						uc003eha.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(622-624)AGG>ATG		ropporin							134.0	124.0	127.0					3																	123688018		2203	4300	6503	SO:0001583	missense	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123688018C>A	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.623G>T	3.37:g.123688018C>A	ENSP00000184183:p.Arg208Met						p.R208M	NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	7	964	-			208					D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	c.623G>T	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740713	0.69304	.	.	ENSG00000065371	ENST00000184183;ENST00000405845	T;T	0.25414	1.8;1.8	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	T	0.25457	0.0619	N	0.22421	0.69	0.80722	D	1	P	0.50528	0.936	P	0.48141	0.568	T	0.01574	-1.1321	10	0.56958	D	0.05	-9.1988	15.5414	0.76052	0.0:1.0:0.0:0.0	.	208	Q9HAT0	ROP1A_HUMAN	M	208	ENSP00000184183:R208M;ENSP00000385919:R208M	ENSP00000184183:R208M	R	-	2	0	ROPN1	125170708	0.999000	0.42202	1.000000	0.80357	0.854000	0.48673	1.697000	0.37784	2.737000	0.93849	0.561000	0.74099	AGG		PASS	0.373	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		46	125	46	125	---	---	---	---
MGLL	11343	broad.mit.edu	37	3	127540634	127540634	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:127540634T>A	ENST00000434178.2	-	2	924	c.28A>T	c.(28-30)Acc>Tcc	p.T10S	MGLL_ENST00000265052.5_Missense_Mutation_p.T20S|MGLL_ENST00000453507.2_Missense_Mutation_p.T20S|MGLL_ENST00000398104.1_Missense_Mutation_p.T10S			Q99685	MGLL_HUMAN	monoglyceride lipase	10					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)	p.T10S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CTCTGCGGGGTCCGCCTGGGG	0.517																																						uc003ejx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)ACC>TCC		monoglyceride lipase isoform 2							114.0	120.0	118.0					3																	127540634		1882	4107	5989	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127540634T>A	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.28A>T	3.37:g.127540634T>A	ENSP00000402798:p.Thr10Ser					MGLL_uc003ejw.2_Missense_Mutation_p.T20S|MGLL_uc011bko.1_Missense_Mutation_p.T20S|MGLL_uc010hsp.1_Missense_Mutation_p.T10S	p.T10S	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN			2	173	-			10					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.28A>T	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103065	0.37145	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T	0.40756	1.02	4.97	3.81	0.43845	.	0.329390	0.27912	N	0.017349	T	0.21590	0.0520	N	0.11064	0.09	0.27574	N	0.949798	B;B;B;B	0.21381	0.055;0.026;0.016;0.006	B;B;B;B	0.21360	0.034;0.008;0.003;0.009	T	0.16778	-1.0391	10	0.20046	T	0.44	-5.6668	9.023	0.36211	0.0:0.084:0.0:0.916	.	20;10;10;20	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	S	10;20;10;20;20;10	ENSP00000417489:T10S	ENSP00000265052:T20S	T	-	1	0	MGLL	129023324	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	3.545000	0.53648	0.757000	0.33036	0.482000	0.46254	ACC		PASS	0.517	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		174	42	174	42	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130424510	130424510	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:130424510C>T	ENST00000356763.3	-	12	3384	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	943					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E943K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGCTGAAGTTCAGTTTTACAA	0.403																																						uc003enj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(2827-2829)GAA>AAA		phosphoinositide-3-kinase, regulatory subunit 4							182.0	170.0	174.0					3																	130424510		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130424510C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2827G>A	3.37:g.130424510C>T	ENSP00000349205:p.Glu943Lys						p.E943K	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			12	3408	-			943					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2827G>A	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	36	5.729222	0.96856	.	.	ENSG00000196455	ENST00000356763	T	0.06608	3.28	5.72	5.72	0.89469	WD40 repeat-like-containing domain (1);	0.049473	0.85682	D	0.000000	T	0.16599	0.0399	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.09773	-1.0659	10	0.21014	T	0.42	-22.8457	19.865	0.96801	0.0:1.0:0.0:0.0	.	943	Q99570	PI3R4_HUMAN	K	943	ENSP00000349205:E943K	ENSP00000349205:E943K	E	-	1	0	PIK3R4	131907200	1.000000	0.71417	0.747000	0.31113	0.984000	0.73092	7.779000	0.85648	2.685000	0.91497	0.655000	0.94253	GAA		PASS	0.403	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		47	216	47	216	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141163318	141163318	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:141163318G>C	ENST00000514251.1	+	4	2367	c.2088G>C	c.(2086-2088)ttG>ttC	p.L696F	ZBTB38_ENST00000441582.2_Missense_Mutation_p.L696F|ZBTB38_ENST00000321464.5_Missense_Mutation_p.L697F					zinc finger and BTB domain containing 38									p.L696F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTTTATCTTTGAGTAATAGCA	0.463																																						uc003etw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2086-2088)TTG>TTC		zinc finger and BTB domain containing 38							82.0	84.0	83.0					3																	141163318		2010	4191	6201	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163318G>C	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2088G>C	3.37:g.141163318G>C	ENSP00000426387:p.Leu696Phe					ZBTB38_uc010hun.2_Missense_Mutation_p.L693F|ZBTB38_uc010huo.2_Missense_Mutation_p.L696F|ZBTB38_uc003ety.2_Missense_Mutation_p.L696F|ZBTB38_uc010hup.2_Missense_Mutation_p.L697F	p.L696F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3070	+			696						Missense_Mutation	SNP	ENST00000514251.1	37	c.2088G>C	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	6.247	0.413786	0.11812	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.09350	3.47;2.99;2.99;2.99	5.25	4.35	0.52113	.	1.282380	0.05210	N	0.506551	T	0.09555	0.0235	L	0.29908	0.895	0.27463	N	0.953096	B;B	0.25719	0.132;0.132	B;B	0.24155	0.051;0.051	T	0.17319	-1.0373	9	.	.	.	-0.7145	7.0202	0.24910	0.1295:0.237:0.6335:0.0	.	697;696	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	F	696;696;696;697	ENSP00000424254:L696F;ENSP00000426387:L696F;ENSP00000406955:L696F;ENSP00000372635:L697F	.	L	+	3	2	ZBTB38	142646008	0.981000	0.34729	0.787000	0.31911	0.046000	0.14306	2.183000	0.42565	2.441000	0.82636	0.650000	0.86243	TTG		PASS	0.463	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			4	197	4	197	---	---	---	---
TRPC1	7220	broad.mit.edu	37	3	142511727	142511727	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:142511727G>T	ENST00000476941.1	+	9	1985	c.1499G>T	c.(1498-1500)gGg>gTg	p.G500V	TRPC1_ENST00000273482.6_Missense_Mutation_p.G466V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	500					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.G466V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GTGGCAGAAGGGCTTTTTGCA	0.368																																						uc003evc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1498-1500)GGG>GTG		transient receptor potential cation channel,							168.0	150.0	156.0					3																	142511727		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142511727G>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1499G>T	3.37:g.142511727G>T	ENSP00000419313:p.Gly500Val					TRPC1_uc003evb.2_Missense_Mutation_p.G466V|TRPC1_uc011bni.1_Intron	p.G500V	NM_003304	NP_003295	P48995	TRPC1_HUMAN			9	1635	+			500			Extracellular (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1499G>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088070	0.94100	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.98567	-5.0;-5.0	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.959	D;P	0.68483	0.958;0.835	D	0.98611	1.0663	10	0.42905	T	0.14	-21.2968	19.2782	0.94040	0.0:0.0:1.0:0.0	.	500;466	P48995;P48995-2	TRPC1_HUMAN;.	V	500;466	ENSP00000419313:G500V;ENSP00000273482:G466V	ENSP00000273482:G466V	G	+	2	0	TRPC1	143994417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.858000	0.86971	2.622000	0.88805	0.557000	0.71058	GGG		PASS	0.368	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		78	124	78	124	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149290745	149290745	+	Silent	SNP	C	C	G	rs534445202		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:149290745C>G	ENST00000465804.1	-	4	730	c.474G>C	c.(472-474)gcG>gcC	p.A158A	WWTR1_ENST00000360632.3_Silent_p.A158A|WWTR1_ENST00000467467.1_Silent_p.A158A	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	158					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A158A(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCTGATTCATCGCCTTCCTAG	0.433			T	CAMTA1	epitheliod hemangioendothelioma																																	uc003exe.2				Dom	yes		3	3q23-q24	607392		WW domain containing transcription regulator 1			M					1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(472-474)GCG>GCC		WW domain containing transcription regulator 1							159.0	145.0	150.0					3																	149290745		2203	4300	6503	SO:0001819	synonymous_variant	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149290745C>G	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.474G>C	3.37:g.149290745C>G						WWTR1_uc003exf.2_Silent_p.A158A|WWTR1_uc011bns.1_Silent_p.A158A|WWTR1_uc003exh.2_Silent_p.A158A	p.A158A	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	490	-			158					D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	ENST00000465804.1	37	c.474G>C	CCDS3144.1																																																																																				PASS	0.433	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		6	149	6	149	---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron			P35080	PROF2_HUMAN	profilin 2	123					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G123R(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTATTCAATCCGCCTCCATGG	0.388																																						uc003ext.1																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GGA>AGA		profilin 2 isoform a							315.0	328.0	323.0					3																	149684332		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149684332C>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.367G>A	3.37:g.149684332C>T	ENSP00000239940:p.Gly123Arg					PFN2_uc003exs.1_Intron|PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron	p.G123R	NM_053024	NP_444252	P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	465	-			123					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.367G>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	9.449	1.090009	0.20390	.	.	ENSG00000070087	ENST00000239940;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.61	5.61	0.85477	.	0.456141	0.26213	N	0.025662	T	0.77545	0.4146	N	0.22421	0.69	0.80722	D	1	B	0.22276	0.067	B	0.11329	0.006	T	0.70821	-0.4768	10	0.18276	T	0.48	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	123	P35080	PROF2_HUMAN	R	123;108;74;74;74;74;74	ENSP00000239940:G123R;ENSP00000417351:G108R;ENSP00000417817:G74R;ENSP00000418142:G74R;ENSP00000418216:G74R;ENSP00000420202:G74R;ENSP00000420504:G74R	ENSP00000239940:G123R	G	-	1	0	PFN2	151167022	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.445000	0.80570	2.793000	0.96121	0.655000	0.94253	GGA		PASS	0.388	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		16	783	16	783	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150881801	150881801	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:150881801C>T	ENST00000474524.1	+	8	1267	c.1229C>T	c.(1228-1230)cCg>cTg	p.P410L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.P410L|MED12L_ENST00000422248.2_Missense_Mutation_p.P410L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	410						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P410L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCCCATGCCGGGTGGGAAC	0.522																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1228-1230)CCG>CTG		mediator of RNA polymerase II transcription,							54.0	53.0	54.0					3																	150881801		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150881801C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1229C>T	3.37:g.150881801C>T	ENSP00000417235:p.Pro410Leu					MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Missense_Mutation_p.P410L|MED12L_uc003eyo.2_Missense_Mutation_p.P410L	p.P410L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		8	1267	+			410					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1229C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904522	0.92035	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.61510	0.1;0.1;0.1	5.02	5.02	0.67125	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	0.973;0.966;1.0	P;B;D	0.83275	0.695;0.445;0.996	D	0.83447	0.0046	10	0.87932	D	0	-22.3085	17.9376	0.89017	0.0:1.0:0.0:0.0	.	410;410;410	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	L	410	ENSP00000403308:P410L;ENSP00000310760:P410L;ENSP00000417235:P410L	ENSP00000310760:P410L	P	+	2	0	MED12L	152364491	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.082000	0.76851	2.317000	0.78254	0.655000	0.94253	CCG		PASS	0.522	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		50	107	50	107	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151100489	151100489	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:151100489G>A	ENST00000474524.1	+	31	4569	c.4531G>A	c.(4531-4533)Gcg>Acg	p.A1511T	MED12L_ENST00000273432.4_Missense_Mutation_p.A1371T|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1511						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A1511T(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGACATAAAAGCGCGGCAGAT	0.348																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4531-4533)GCG>ACG		mediator of RNA polymerase II transcription,							65.0	64.0	64.0					3																	151100489		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151100489G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4531G>A	3.37:g.151100489G>A	ENSP00000417235:p.Ala1511Thr					MED12L_uc011bnz.1_Missense_Mutation_p.A1371T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A674T	p.A1511T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		31	4569	+			1511					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4531G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357473	0.82243	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59906	0.46;0.23	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	N	0.12746	0.255	0.80722	D	1	B;D;D	0.67145	0.34;0.996;0.993	B;D;D	0.79784	0.155;0.993;0.984	T	0.67252	-0.5717	10	0.51188	T	0.08	-19.6398	19.8545	0.96752	0.0:0.0:1.0:0.0	.	1371;1510;1511	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	T	1511;1371	ENSP00000417235:A1511T;ENSP00000273432:A1371T	ENSP00000273432:A1371T	A	+	1	0	MED12L	152583179	1.000000	0.71417	0.390000	0.26220	0.658000	0.38924	9.555000	0.98123	2.784000	0.95788	0.644000	0.83932	GCG		PASS	0.348	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		14	46	14	46	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167045904	167045904	+	Splice_Site	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:167045904C>A	ENST00000392766.2	-	11	1028	c.688G>T	c.(688-690)Gta>Tta	p.V230L	ZBBX_ENST00000392767.2_Splice_Site_p.V230L|ZBBX_ENST00000392764.1_Splice_Site_p.V201L|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Splice_Site_p.V230L|ZBBX_ENST00000455345.2_Splice_Site_p.V230L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	230						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V230L(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTAATTTCTACCTAATTAAAA	0.318																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(688-690)GTA>TTA		zinc finger, B-box domain containing							149.0	134.0	139.0					3																	167045904		1839	4087	5926	SO:0001630	splice_region_variant	79740					intracellular	zinc ion binding	g.chr3:167045904C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.688-1G>T	3.37:g.167045904C>A						ZBBX_uc011bpc.1_Missense_Mutation_p.V230L|ZBBX_uc003feq.2_Missense_Mutation_p.V201L	p.V230L	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			11	1011	-			230					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.688G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273351	0.23221	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12255	2.87;2.87;2.87;2.87;2.7	5.42	3.62	0.41486	.	1.482610	0.05538	U	0.565204	T	0.15132	0.0365	L	0.50333	1.59	0.29335	N	0.866439	B;B	0.34399	0.452;0.323	B;B	0.31337	0.128;0.038	T	0.22556	-1.0213	10	0.54805	T	0.06	-14.0278	7.4192	0.27063	0.0:0.8077:0.0:0.1923	.	230;230	A8MT70-2;A8MT70	.;ZBBX_HUMAN	L	230;230;230;230;201	ENSP00000376519:V230L;ENSP00000376520:V230L;ENSP00000390232:V230L;ENSP00000305065:V230L;ENSP00000376517:V201L	ENSP00000305065:V230L	V	-	1	0	ZBBX	168528598	0.976000	0.34144	0.968000	0.41197	0.034000	0.12701	0.871000	0.28023	1.283000	0.44513	0.557000	0.71058	GTA		PASS	0.318	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Missense_Mutation	82	110	82	110	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175184863	175184863	+	Missense_Mutation	SNP	G	G	C	rs372908344		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:175184863G>C	ENST00000454872.1	+	8	1552	c.1424G>C	c.(1423-1425)cGt>cCt	p.R475P	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	475						integral component of membrane (GO:0016021)		p.R475P(1)|p.R475H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCGTTTATCCGTGCCTTGATG	0.438																																						uc003fit.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	pancreas(1)	1						c.(1423-1425)CGT>CCT		N-acetylated alpha-linked acidic dipeptidase 2							186.0	180.0	182.0					3																	175184863		1969	4153	6122	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184863G>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1424G>C	3.37:g.175184863G>C	ENSP00000404705:p.Arg475Pro					NAALADL2_uc003fiu.1_Missense_Mutation_p.R468P|NAALADL2_uc010hwy.1_Missense_Mutation_p.R249P|NAALADL2_uc010hwz.1_Missense_Mutation_p.R69P	p.R475P	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	8	1511	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	475			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1424G>C	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048272	0.19827	.	.	ENSG00000177694	ENST00000454872	T	0.55234	0.53	5.58	-2.92	0.05615	Peptidase M28 (1);	0.866607	0.10260	N	0.696052	T	0.61937	0.2387	M	0.87617	2.895	0.19775	N	0.999955	P	0.41041	0.736	B	0.43052	0.406	T	0.64351	-0.6428	10	0.87932	D	0	0.1799	15.5622	0.76258	0.8883:0.0:0.1117:0.0	.	475	Q58DX5	NADL2_HUMAN	P	475	ENSP00000404705:R475P	ENSP00000404705:R475P	R	+	2	0	NAALADL2	176667557	0.933000	0.31639	0.217000	0.23759	0.036000	0.12997	0.531000	0.23052	-0.815000	0.04346	-0.237000	0.12165	CGT		PASS	0.438	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		97	207	97	207	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183904636	183904636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:183904636C>T	ENST00000429586.2	+	3	459	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Nonsense_Mutation_p.Q86*	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	92					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q92*(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCCCCTATCCAGTTGTCAAA	0.547																																						uc003fmz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(1)	4						c.(274-276)CAG>TAG		ATP-binding cassette, sub-family F (GCN20),							71.0	67.0	69.0					3																	183904636		2203	4300	6503	SO:0001587	stop_gained	55324						ATP binding|ATPase activity	g.chr3:183904636C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.274C>T	3.37:g.183904636C>T	ENSP00000411471:p.Gln92*					ABCF3_uc003fna.2_Nonsense_Mutation_p.Q86*|ABCF3_uc003fnb.2_5'Flank	p.Q92*	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	407	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		92					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Nonsense_Mutation	SNP	ENST00000429586.2	37	c.274C>T	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597290	0.96602	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-19.2174	18.1439	0.89649	0.0:1.0:0.0:0.0	.	.	.	.	X	92;86	.	ENSP00000292808:Q86X	Q	+	1	0	ABCF3	185387330	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.366000	0.73095	2.517000	0.84864	0.462000	0.41574	CAG		PASS	0.547	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		24	95	24	95	---	---	---	---
CLDN1	9076	broad.mit.edu	37	3	190026066	190026066	+	Nonstop_Mutation	SNP	T	T	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:190026066T>G	ENST00000295522.3	-	4	904	c.636A>C	c.(634-636)tgA>tgC	p.*212C		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	0					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.*212C(1)		lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGCCTCTGTGTCACACGTAGT	0.433																																						uc003fsh.2																			1	Nonstop extension(1)		lung(1)	lung(1)	1						c.(634-636)TGA>TGC		claudin 1							208.0	188.0	195.0					3																	190026066		2203	4300	6503	SO:0001578	stop_lost	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190026066T>G	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.636A>C	3.37:g.190026066T>G	ENSP00000295522:p.*212Trpext*10						p.*212C	NM_021101	NP_066924	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	4	856	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		212						Nonstop_Mutation	SNP	ENST00000295522.3	37	c.636A>C	CCDS3295.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939691	0.52972	.	.	ENSG00000163347	ENST00000295522;ENST00000545382	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9295	0.58278	0.0:0.0:0.0:1.0	.	.	.	.	C	212;167	.	.	X	-	3	0	CLDN1	191508760	1.000000	0.71417	0.968000	0.41197	0.897000	0.52465	5.608000	0.67654	2.371000	0.80710	0.533000	0.62120	TGA		PASS	0.433	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		39	311	39	311	---	---	---	---
CCDC50	152137	broad.mit.edu	37	3	191074882	191074882	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr3:191074882C>G	ENST00000392455.3	+	2	653	c.55C>G	c.(55-57)Cga>Gga	p.R19G	CCDC50_ENST00000392456.3_Missense_Mutation_p.R19G	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	19						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.R19G(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCTAGTATGCCGAGATTTTGC	0.378																																						uc003fsw.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(55-57)CGA>GGA		Ymer protein short isoform							139.0	133.0	135.0					3																	191074882		2203	4300	6503	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191074882C>G	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.55C>G	3.37:g.191074882C>G	ENSP00000376249:p.Arg19Gly					CCDC50_uc003fsv.2_Missense_Mutation_p.R19G	p.R19G	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	2	645	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		19					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.55C>G	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441512	0.43326	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.48836	0.8;0.8	5.56	3.7	0.42460	.	0.065995	0.64402	D	0.000010	T	0.62696	0.2449	L	0.56769	1.78	0.42234	D	0.991908	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.961	T	0.64394	-0.6418	10	0.87932	D	0	.	11.8995	0.52675	0.4903:0.5097:0.0:0.0	.	19;19	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	G	19	ENSP00000376249:R19G;ENSP00000376250:R19G	ENSP00000376249:R19G	R	+	1	2	CCDC50	192557576	1.000000	0.71417	0.999000	0.59377	0.440000	0.31957	1.688000	0.37690	0.643000	0.30638	0.591000	0.81541	CGA		PASS	0.378	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		16	72	16	72	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39839791	39839791	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:39839791C>T	ENST00000303538.8	-	32	4234	c.3695G>A	c.(3694-3696)aGc>aAc	p.S1232N		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.S1232N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCGGTCACTGCTGATGTTGCC	0.388																																						uc003guv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3694-3696)AGC>AAC		PDS5, regulator of cohesion maintenance, homolog							77.0	73.0	74.0					4																	39839791		1895	4119	6014	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39839791C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3695G>A	4.37:g.39839791C>T	ENSP00000303427:p.Ser1232Asn					PDS5A_uc010ifo.2_Missense_Mutation_p.S1192N	p.S1232N	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			32	4235	-			1232						Missense_Mutation	SNP	ENST00000303538.8	37	c.3695G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988033	0.53934	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.34	5.34	0.76211	.	0.371511	0.32719	N	0.005738	T	0.38931	0.1059	N	0.08118	0	0.80722	D	1	B	0.23990	0.095	B	0.20955	0.032	T	0.23691	-1.0181	8	.	.	.	-9.5515	19.0327	0.92963	0.0:1.0:0.0:0.0	.	1232	Q29RF7	PDS5A_HUMAN	N	1232	.	.	S	-	2	0	PDS5A	39516186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.114000	0.64648	2.502000	0.84385	0.655000	0.94253	AGC		PASS	0.388	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	25	3	25	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177267	44177267	+	Splice_Site	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:44177267C>A	ENST00000360029.3	-	2	1245	c.962G>T	c.(961-963)cGa>cTa	p.R321L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	321					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.R321L(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGAGGTGGTCCTAAAAAGGA	0.323										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(961-963)CGA>CTA		potassium channel tetramerisation domain							63.0	61.0	62.0					4																	44177267		2203	4300	6503	SO:0001630	splice_region_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177267C>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.962-1G>T	4.37:g.44177267C>A		HNSCC(17;0.042)					p.R321L	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1246	-			321					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.962G>T	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.859812|2.859812	0.51376|0.51376	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000515268|ENST00000360029	.|T	.|0.59502	.|0.26	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.146450	.|0.42682	.|D	.|0.000664	T|T	0.73345|0.73345	0.3575|0.3575	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63046	.|0.992	.|D	.|0.62955	.|0.909	T|T	0.77225|0.77225	-0.2666|-0.2666	5|10	.|0.87932	.|D	.|0	.|.	17.0403|17.0403	0.86487|0.86487	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|321	.|Q6ZWB6	.|KCTD8_HUMAN	Y|L	57|321	.|ENSP00000353129:R321L	.|ENSP00000353129:R321L	D|R	-|-	1|2	0|0	KCTD8|KCTD8	43872024|43872024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.708000|0.708000	0.40852|0.40852	6.282000|6.282000	0.72639|0.72639	2.571000|2.571000	0.86741|0.86741	0.585000|0.585000	0.79938|0.79938	GAC|CGA		PASS	0.323	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1		Missense_Mutation	25	16	25	16	---	---	---	---
USP46	64854	broad.mit.edu	37	4	53492340	53492340	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:53492340G>A	ENST00000441222.3	-	4	590	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	USP46_ENST00000451218.2_Missense_Mutation_p.L109F|USP46_ENST00000508499.1_Missense_Mutation_p.L129F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	136	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L136F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TCCTCCTGAAGGATGTCCGCA	0.373																																						uc003gzn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)CTT>TTT		ubiquitin specific peptidase 46 isoform 1							108.0	97.0	101.0					4																	53492340		1819	4086	5905	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53492340G>A	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.406C>T	4.37:g.53492340G>A	ENSP00000407818:p.Leu136Phe					USP46_uc003gzm.3_Missense_Mutation_p.L129F|USP46_uc011bzr.1_Missense_Mutation_p.L113F|USP46_uc011bzs.1_Missense_Mutation_p.L20F	p.L136F	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		4	591	-			136					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.406C>T	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181262	0.38511	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.07444	3.19;3.19;3.19	5.27	2.63	0.31362	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.44902	D	0.000403	T	0.31606	0.0802	M	0.91354	3.2	0.58432	D	0.999999	D;D;D;D	0.67145	0.989;0.989;0.996;0.986	D;D;D;D	0.72625	0.949;0.949;0.978;0.92	T	0.04664	-1.0935	10	0.66056	D	0.02	-10.7303	8.9097	0.35546	0.3153:0.0:0.6847:0.0	.	20;124;136;129	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	F	136;109;129	ENSP00000407818:L136F;ENSP00000390102:L109F;ENSP00000423244:L129F	ENSP00000407818:L136F	L	-	1	0	USP46	53187097	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	7.864000	0.87037	0.331000	0.23511	-0.806000	0.03193	CTT		PASS	0.373	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		4	48	4	48	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57237718	57237718	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:57237718A>T	ENST00000205214.6	-	5	940	c.760T>A	c.(760-762)Tca>Aca	p.S254T	AASDH_ENST00000502617.1_Missense_Mutation_p.S254T|AASDH_ENST00000602986.1_Missense_Mutation_p.S101T|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.S254T|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.S154T	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	254					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.S254T(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)				GCACCACTTGATAGAGCAAGA	0.423																																						uc003hbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(760-762)TCA>ACA		aminoadipate-semialdehyde dehydrogenase							118.0	98.0	105.0					4																	57237718		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57237718A>T	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.760T>A	4.37:g.57237718A>T	ENSP00000205214:p.Ser254Thr					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.S101T|AASDH_uc003hbo.2_Missense_Mutation_p.S154T|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.S254T|AASDH_uc003hbp.2_Missense_Mutation_p.S254T	p.S254T	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			5	913	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	254					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.760T>A	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	a	10.58	1.389764	0.25118	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.18	3.94	0.45596	AMP-dependent synthetase/ligase (1);	0.271687	0.36591	N	0.002512	T	0.19248	0.0462	N	0.11673	0.155	0.37430	D	0.913974	B;B;B;B	0.32526	0.226;0.374;0.313;0.099	B;B;B;B	0.34093	0.175;0.102;0.084;0.092	T	0.18053	-1.0349	10	0.02654	T	1	-6.1735	9.1805	0.37138	0.7534:0.0:0.0:0.2466	.	101;254;254;254	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	T	254;154;254;101;254	ENSP00000205214:S254T;ENSP00000423760:S154T;ENSP00000409656:S254T;ENSP00000421171:S254T	ENSP00000205214:S254T	S	-	1	0	AASDH	56932475	0.988000	0.35896	0.886000	0.34754	0.666000	0.39218	2.496000	0.45346	1.962000	0.57031	0.525000	0.51046	TCA		PASS	0.423	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		3	37	3	37	---	---	---	---
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						uc011cat.1																			3	Substitution - Missense(3)		lung(2)|kidney(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(517-519)TCT>CCT		mucin 7, secreted precursor							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_uc011cau.1_Missense_Mutation_p.S173P|MUC7_uc003hfj.2_Missense_Mutation_p.S173P|uc011cav.1_RNA	p.S173P	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			1.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		PASS	0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		3	138	3	138	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73986010	73986010	+	Silent	SNP	C	C	G	rs139894750	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:73986010C>G	ENST00000358602.4	-	21	4010	c.3894G>C	c.(3892-3894)gcG>gcC	p.A1298A	ANKRD17_ENST00000330838.6_Silent_p.A1047A|ANKRD17_ENST00000509867.2_Silent_p.A1185A|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1298					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A1298A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCCCACCTCCGCATATCCAC	0.443																																						uc003hgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(3892-3894)GCG>GCC		ankyrin repeat domain protein 17 isoform a							91.0	84.0	87.0					4																	73986010		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73986010C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3894G>C	4.37:g.73986010C>G						ANKRD17_uc003hgo.2_Silent_p.A1185A|ANKRD17_uc003hgq.2_Silent_p.A1047A|ANKRD17_uc003hgr.2_Silent_p.A1297A|ANKRD17_uc011cbd.1_Silent_p.A863A	p.A1298A	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		21	4011	-	Breast(15;0.000295)		1298			ANK 22.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.3894G>C	CCDS34004.1																																																																																				PASS	0.443	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		29	24	29	24	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113510904	113510904	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:113510904C>A	ENST00000505019.1	-	11	3228	c.3103G>T	c.(3103-3105)Gat>Tat	p.D1035Y	C4orf21_ENST00000309071.5_Missense_Mutation_p.D1035Y	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1035						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D1035Y(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAATGAAGATCATCAGGTAAA	0.358																																						uc003iau.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3103-3105)GAT>TAT		prematurely terminated mRNA decay factor-like							107.0	108.0	108.0					4																	113510904		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113510904C>A																												ENST00000505019.1:c.3103G>T	4.37:g.113510904C>A	ENSP00000424737:p.Asp1035Tyr					C4orf21_uc003iav.2_5'Flank|C4orf21_uc003iaw.2_Missense_Mutation_p.D1035Y	p.D1035Y	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	11	3314	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.3103G>T		.	.	.	.	.	.	.	.	.	.	C	15.42	2.827413	0.50845	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.86366	-2.11;1.48	5.23	2.53	0.30540	.	0.303444	0.23664	N	0.045781	D	0.88976	0.6584	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.63192	0.909;0.912	D	0.87358	0.2342	10	0.72032	D	0.01	-11.1857	7.7647	0.28972	0.0:0.7195:0.0:0.2805	.	1035;1035	Q86YA3;G5EA02	CD021_HUMAN;.	Y	1035	ENSP00000424737:D1035Y;ENSP00000309095:D1035Y	ENSP00000309095:D1035Y	D	-	1	0	C4orf21	113730353	0.966000	0.33281	0.959000	0.39883	0.654000	0.38779	0.459000	0.21908	0.702000	0.31825	0.585000	0.79938	GAT		PASS	0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			4	91	4	91	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156792	155156792	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:155156792C>A	ENST00000357232.4	-	25	7646	c.7647G>T	c.(7645-7647)gtG>gtT	p.V2549V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2549					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2549V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTATCAGAAACACTAAAAAGG	0.378																																						uc003inw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(7645-7647)GTG>GTT		dachsous 2 isoform 1							60.0	61.0	61.0					4																	155156792		2202	4300	6502	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156792C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7647G>T	4.37:g.155156792C>A							p.V2549V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7647	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2549			Helical; (Potential).		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.7647G>T	CCDS3785.1																																																																																				PASS	0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		27	10	27	10	---	---	---	---
HAND2	9464	broad.mit.edu	37	4	174450308	174450308	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:174450308C>A	ENST00000359562.4	-	1	1072	c.133G>T	c.(133-135)Ggc>Tgc	p.G45C	HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000507571.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	45					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G45C(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATGAGCCAGCCATGGAAGTAG	0.721																																						uc003ith.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)GGC>TGC		basic helix-loop-helix transcription factor							5.0	7.0	6.0					4																	174450308		1954	3943	5897	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174450308C>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.133G>T	4.37:g.174450308C>A	ENSP00000352565:p.Gly45Cys					NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.G45C|HAND2_uc010ire.1_Missense_Mutation_p.G45C	p.G45C	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1071	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	45					B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.133G>T	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278379	0.59758	.	.	ENSG00000164107	ENST00000359562;ENST00000393686	D	0.96885	-4.16	3.57	3.57	0.40892	.	0.115186	0.64402	N	0.000017	D	0.96163	0.8749	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69142	0.962;0.962;0.962	D	0.96728	0.9537	10	0.62326	D	0.03	-18.5607	15.3378	0.74273	0.0:1.0:0.0:0.0	.	45;45;45	B6ECG9;P61296;E9PCP7	.;HAND2_HUMAN;.	C	45	ENSP00000352565:G45C	ENSP00000352565:G45C	G	-	1	0	HAND2	174686883	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.841000	0.55850	1.829000	0.53265	0.462000	0.41574	GGC		PASS	0.721	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			16	2	16	2	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924884	188924884	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:188924884A>G	ENST00000326866.4	+	4	1331	c.923A>G	c.(922-924)gAg>gGg	p.E308G	ZFP42_ENST00000509524.1_Missense_Mutation_p.E308G	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	308					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E308G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATGAACAAGAGGGAAAGTAG	0.403																																						uc003izg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(922-924)GAG>GGG		zinc finger protein 42							49.0	49.0	49.0					4																	188924884		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924884A>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.923A>G	4.37:g.188924884A>G	ENSP00000317686:p.Glu308Gly					ZFP42_uc003izh.1_Missense_Mutation_p.E308G|ZFP42_uc003izi.1_Missense_Mutation_p.E308G	p.E308G	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	1168	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	308					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.923A>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261436	0.23051	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.12147	2.71;2.71	3.82	0.0488	0.14286	.	.	.	.	.	T	0.08670	0.0215	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	9	0.87932	D	0	.	7.4377	0.27164	0.726:0.0:0.274:0.0	.	308	Q96MM3	ZFP42_HUMAN	G	308	ENSP00000317686:E308G;ENSP00000424662:E308G	ENSP00000317686:E308G	E	+	2	0	ZFP42	189161878	0.967000	0.33354	0.001000	0.08648	0.001000	0.01503	1.446000	0.35090	0.025000	0.15241	-0.290000	0.09829	GAG		PASS	0.403	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		20	10	20	10	---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7875392	7875392	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:7875392C>A	ENST00000264668.2	+	4	416	c.386C>A	c.(385-387)aCc>aAc	p.T129N	MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.T102N|MTRR_ENST00000341013.6_Missense_Mutation_p.P51T	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	129	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.T129N(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCAGAATACACCTACTTTTGC	0.373																																						uc003jed.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)ACC>AAC		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						126.0	133.0	130.0					5																	7875392		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7875392C>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.386C>A	5.37:g.7875392C>A	ENSP00000264668:p.Thr129Asn					MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.T102N|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.T129N	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			4	416	+			129			FMN (By similarity).|Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.386C>A	CCDS3874.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.66|14.66|14.66	2.600614|2.600614|2.600614	0.46423|0.46423|0.46423	.|.|.	.|.|.	ENSG00000124275|ENSG00000124275|ENSG00000124275	ENST00000514220|ENST00000341013|ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217	.|T|T;T;T;T	.|0.55760|0.58797	.|0.5|0.31;0.31;0.31;0.31	5.46|5.46|5.46	5.46|5.46|5.46	0.80206|0.80206|0.80206	.|.|Flavodoxin/nitric oxide synthase (2);	.|.|0.049913	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.65428|0.65428|0.65428	0.2690|0.2690|0.2690	L|L|L	0.41027|0.41027|0.41027	1.25|1.25|1.25	0.24962|0.24962|0.24962	N|N|N	0.991729|0.991729|0.991729	.|.|D	.|.|0.76494	.|.|0.999	.|.|D	.|.|0.70487	.|.|0.969	T|T|T	0.56733|0.56733|0.56733	-0.7930|-0.7930|-0.7930	5|7|10	.|0.34782|0.20046	.|T|T	.|0.22|0.44	-20.4996|-20.4996|-20.4996	14.8659|14.8659|14.8659	0.70416|0.70416|0.70416	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.|.	.|.|129	.|.|Q9UBK8	.|.|MTRR_HUMAN	Q|T|N	30|51|129;102;102;102	.|ENSP00000341918:P51T|ENSP00000264668:T129N;ENSP00000402510:T102N;ENSP00000424599:T102N;ENSP00000421318:T102N	.|ENSP00000341918:P51T|ENSP00000264668:T129N	H|P|T	+|+|+	3|1|2	2|0|0	MTRR|MTRR|MTRR	7928392|7928392|7928392	0.989000|0.989000|0.989000	0.36119|0.36119|0.36119	0.909000|0.909000|0.909000	0.35828|0.35828|0.35828	0.719000|0.719000|0.719000	0.41307|0.41307|0.41307	2.834000|2.834000|2.834000	0.48167|0.48167|0.48167	2.706000|2.706000|2.706000	0.92434|0.92434|0.92434	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CCT|ACC		PASS	0.373	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			14	417	14	417	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24505315	24505315	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:24505315G>T	ENST00000264463.4	-	8	1806	c.1299C>A	c.(1297-1299)aaC>aaA	p.N433K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N433K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGAATGAATGTTAAAGATTC	0.368										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1297-1299)AAC>AAA		cadherin 10, type 2 preproprotein							101.0	96.0	98.0					5																	24505315		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505315G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1299C>A	5.37:g.24505315G>T	ENSP00000264463:p.Asn433Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.N433K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1631	-			433			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1299C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960995	0.74016	.	.	ENSG00000040731	ENST00000264463	T	0.48522	0.81	5.57	4.58	0.56647	Cadherin (4);Cadherin-like (1);	0.145208	0.64402	D	0.000010	T	0.37461	0.1004	L	0.43923	1.385	0.41837	D	0.990105	P	0.34724	0.465	B	0.37989	0.262	T	0.14476	-1.0471	10	0.25106	T	0.35	.	6.9248	0.24410	0.2579:0.0:0.7421:0.0	.	433	Q9Y6N8	CAD10_HUMAN	K	433	ENSP00000264463:N433K	ENSP00000264463:N433K	N	-	3	2	CDH10	24541072	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.437000	0.21543	2.600000	0.87896	0.655000	0.94253	AAC		PASS	0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		53	64	53	64	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24537743	24537743	+	Missense_Mutation	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:24537743T>C	ENST00000264463.4	-	3	779	c.272A>G	c.(271-273)tAt>tGt	p.Y91C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y91C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGATAAGATATATTTGAGTGA	0.373										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(271-273)TAT>TGT		cadherin 10, type 2 preproprotein							72.0	71.0	71.0					5																	24537743		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537743T>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.272A>G	5.37:g.24537743T>C	ENSP00000264463:p.Tyr91Cys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.Y91C	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	604	-			91			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.272A>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182502	0.78677	.	.	ENSG00000040731	ENST00000264463	T	0.76709	-1.04	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	H	0.98155	4.16	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.95145	0.8267	10	0.87932	D	0	.	15.4711	0.75441	0.0:0.0:0.0:1.0	.	91	Q9Y6N8	CAD10_HUMAN	C	91	ENSP00000264463:Y91C	ENSP00000264463:Y91C	Y	-	2	0	CDH10	24573500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.697000	0.84279	2.252000	0.74401	0.460000	0.39030	TAT		PASS	0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		147	13	147	13	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090943	32090943	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:32090943G>A	ENST00000438447.1	+	20	7777	c.7389G>A	c.(7387-7389)aaG>aaA	p.K2463K	PDZD2_ENST00000282493.3_Silent_p.K2463K			O15018	PDZD2_HUMAN	PDZ domain containing 2	2463					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.K2463K(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCTGTTAAGAGGAACAAGT	0.562																																						uc003jhl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(7387-7389)AAG>AAA		PDZ domain containing 2							75.0	76.0	76.0					5																	32090943		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090943G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7389G>A	5.37:g.32090943G>A						PDZD2_uc003jhm.2_Silent_p.K2463K	p.K2463K	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	7777	+			2463					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.7389G>A	CCDS34137.1																																																																																				PASS	0.562	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	276	10	276	---	---	---	---
F2RL2	2151	broad.mit.edu	37	5	75913823	75913823	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:75913823G>T	ENST00000296641.4	-	2	912	c.709C>A	c.(709-711)Ctt>Att	p.L237I	IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.L215I|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	237					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)	p.L237I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGCTGAACAAGATAATATTCC	0.453																																						uc003kem.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(709-711)CTT>ATT		coagulation factor II (thrombin) receptor-like 2							71.0	68.0	69.0					5																	75913823		2203	4300	6503	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75913823G>T	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.709C>A	5.37:g.75913823G>T	ENSP00000296641:p.Leu237Ile					IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.L215I	p.L237I	NM_004101	NP_004092	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	2	894	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	237			Extracellular (Potential).		B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.709C>A	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	G	6.074	0.382038	0.11524	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.72167	-0.63;-0.63	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.328049	0.29668	N	0.011509	T	0.46964	0.1420	N	0.12182	0.205	0.35095	D	0.764698	P	0.38420	0.63	B	0.34873	0.191	T	0.56232	-0.8013	10	0.12103	T	0.63	-19.8604	10.3511	0.43937	0.0:0.154:0.7061:0.1399	.	237	O00254	PAR3_HUMAN	I	237;215	ENSP00000296641:L237I;ENSP00000426703:L215I	ENSP00000296641:L237I	L	-	1	0	F2RL2	75949579	0.875000	0.30112	0.489000	0.27452	0.831000	0.47069	1.413000	0.34725	2.367000	0.80283	0.563000	0.77884	CTT		PASS	0.453	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			14	9	14	9	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90074700	90074700	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:90074700C>T	ENST00000405460.2	+	64	12964	c.12868C>T	c.(12868-12870)Cgt>Tgt	p.R4290C	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4290	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4290C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACAATCATCCGTTCCAGTGG	0.438																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12868-12870)CGT>TGT		G protein-coupled receptor 98 precursor							141.0	145.0	144.0					5																	90074700		2117	4245	6362	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074700C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12868C>T	5.37:g.90074700C>T	ENSP00000384582:p.Arg4290Cys					GPR98_uc003kjt.2_Missense_Mutation_p.R1996C|GPR98_uc003kjw.2_5'Flank	p.R4290C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	12964	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4290			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12868C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582898	0.86748	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.56275	0.47	5.61	5.61	0.85477	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.87759	0.2597	10	0.87932	D	0	.	19.6397	0.95753	0.0:1.0:0.0:0.0	.	4290	Q8WXG9	GPR98_HUMAN	C	4290	ENSP00000384582:R4290C	ENSP00000296619:R4290C	R	+	1	0	GPR98	90110456	1.000000	0.71417	0.125000	0.21846	0.013000	0.08279	7.031000	0.76491	2.632000	0.89209	0.655000	0.94253	CGT		PASS	0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		63	40	63	40	---	---	---	---
KCTD16	57528	broad.mit.edu	37	5	143853480	143853480	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:143853480G>T	ENST00000507359.3	+	3	2181	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	KCTD16_ENST00000512467.1_Missense_Mutation_p.D364Y	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	364					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.D364Y(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCGGAAAAGCGACTTACTCCG	0.522																																						uc003lnm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1090-1092)GAC>TAC		potassium channel tetramerisation domain							63.0	68.0	66.0					5																	143853480		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853480G>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1090G>T	5.37:g.143853480G>T	ENSP00000426548:p.Asp364Tyr					KCTD16_uc003lnn.1_Missense_Mutation_p.D364Y	p.D364Y	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		4	1719	+		all_hematologic(541;0.118)	364					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.1090G>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597571	0.87055	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.48201	0.82;0.82	6.17	6.17	0.99709	.	0.130087	0.51477	D	0.000081	T	0.61677	0.2366	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61917	-0.6964	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	364	Q68DU8	KCD16_HUMAN	Y	364	ENSP00000424151:D364Y;ENSP00000426548:D364Y	ENSP00000426548:D364Y	D	+	1	0	KCTD16	143833673	1.000000	0.71417	0.971000	0.41717	0.969000	0.65631	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.522	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		36	23	36	23	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160047944	160047944	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:160047944G>T	ENST00000327245.5	-	15	2672	c.1826C>A	c.(1825-1827)cCc>cAc	p.P609H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	609					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P609H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGCTTGAGGGTTTGATGGT	0.458																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1825-1827)CCC>CAC		ATPase, class V, type 10B							174.0	169.0	171.0					5																	160047944		1975	4162	6137	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047944G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1826C>A	5.37:g.160047944G>T	ENSP00000313600:p.Pro609His					ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.P167H	p.P609H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2673	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	609			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1826C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830873	0.32329	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.90197	-2.63;-2.63	5.53	5.53	0.82687	HAD-like domain (1);	0.362167	0.29558	N	0.011818	D	0.93792	0.8015	M	0.63843	1.955	0.32744	N	0.50731	D;D	0.64830	0.992;0.994	P;P	0.60886	0.88;0.823	D	0.94477	0.7690	9	.	.	.	.	18.4818	0.90815	0.0:0.0:1.0:0.0	.	217;609	Q2YDW8;O94823	.;AT10B_HUMAN	H	609;217	ENSP00000313600:P609H;ENSP00000431081:P217H	.	P	-	2	0	ATP10B	159980522	1.000000	0.71417	0.144000	0.22314	0.655000	0.38815	7.519000	0.81809	2.605000	0.88082	0.655000	0.94253	CCC		PASS	0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		132	75	132	75	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160757955	160757955	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr5:160757955G>T	ENST00000393959.1	-	8	1011	c.1012C>A	c.(1012-1014)Caa>Aaa	p.Q338K	GABRB2_ENST00000517901.1_Missense_Mutation_p.Q275K|GABRB2_ENST00000274547.2_Missense_Mutation_p.Q338K|GABRB2_ENST00000520240.1_Missense_Mutation_p.Q338K|GABRB2_ENST00000517547.1_Missense_Mutation_p.Q178K|GABRB2_ENST00000353437.6_Missense_Mutation_p.Q338K			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	338					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.Q338K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTTTCTTTTGGCGTTGGGGC	0.498																																						uc003lys.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1012-1014)CAA>AAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						96.0	99.0	98.0					5																	160757955		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160757955G>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1012C>A	5.37:g.160757955G>T	ENSP00000377531:p.Gln338Lys					GABRB2_uc011deh.1_Missense_Mutation_p.Q177K|GABRB2_uc003lyr.1_Missense_Mutation_p.Q338K|GABRB2_uc003lyt.1_Missense_Mutation_p.Q338K|GABRB2_uc010jiu.1_Missense_Mutation_p.Q275K	p.Q338K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1230	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	338			Cytoplasmic (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1012C>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063246	0.76187	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.26	5.26	0.73747	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.444590	0.03802	N	0.264617	D	0.88702	0.6508	N	0.17723	0.515	0.58432	D	0.999999	D;B;D;B	0.59357	0.985;0.002;0.975;0.032	D;B;P;B	0.73708	0.981;0.013;0.871;0.044	T	0.77563	-0.2541	10	0.12766	T	0.61	.	18.8686	0.92303	0.0:0.0:1.0:0.0	.	178;275;338;338	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	K	338;338;338;338;275;178	ENSP00000377531:Q338K;ENSP00000274547:Q338K;ENSP00000274546:Q338K;ENSP00000429320:Q338K;ENSP00000430532:Q275K;ENSP00000429750:Q178K	ENSP00000274547:Q338K	Q	-	1	0	GABRB2	160690533	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.763000	0.85283	2.451000	0.82905	0.563000	0.77884	CAA		PASS	0.498	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			110	54	110	54	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49578736	49578736	+	Splice_Site	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:49578736C>T	ENST00000371175.4	-	7	1094		c.e7+1		RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.?(2)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTTTTACTCACGTGTTGGAGG	0.502																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			2	Unknown(2)		lung(2)	breast(1)|skin(1)	2	GRCh37	CS982347	RHAG	S		c.e7+1		Rh-associated glycoprotein							86.0	79.0	82.0					6																	49578736		2203	4300	6503	SO:0001630	splice_region_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49578736C>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1067+1G>A	6.37:g.49578736C>T						RHAG_uc010jzl.2_Splice_Site_p.T356_splice|RHAG_uc010jzm.2_Intron	p.T356_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN			7	1129	-	Lung NSC(77;0.0255)							B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Splice_Site	SNP	ENST00000371175.4	37	c.1067_splice	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271583	0.23221	.	.	ENSG00000112077	ENST00000371175;ENST00000418071;ENST00000539403	.	.	.	5.03	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2681	0.54689	0.17:0.83:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHAG	49686695	0.992000	0.36948	0.792000	0.32020	0.110000	0.19582	2.839000	0.48207	1.223000	0.43536	0.655000	0.94253	.		PASS	0.502	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Intron	25	63	25	63	---	---	---	---
GSTA2	2939	broad.mit.edu	37	6	52622742	52622742	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:52622742C>T	ENST00000493422.1	-	2	159	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	2					epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.A2T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GGCTTCTCTGCCATGGTAGCA	0.463																																						uc003pay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)GCA>ACA		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						103.0	97.0	99.0					6																	52622742		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52622742C>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.4G>A	6.37:g.52622742C>T	ENSP00000420168:p.Ala2Thr						p.A2T	NM_000846	NP_000837	P09210	GSTA2_HUMAN			2	154	-	Lung NSC(77;0.118)		2					Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.4G>A	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	N	11.98	1.800660	0.31869	.	.	ENSG00000244067	ENST00000493422	T	0.01963	4.53	2.81	1.81	0.25067	Thioredoxin-like fold (1);	0.589727	0.16806	N	0.198778	T	0.03178	0.0093	M	0.76328	2.33	0.29996	N	0.816446	D	0.58268	0.982	P	0.56127	0.792	T	0.25984	-1.0116	10	0.56958	D	0.05	.	8.5022	0.33165	0.4177:0.5823:0.0:0.0	.	2	P09210	GSTA2_HUMAN	T	2	ENSP00000420168:A2T	ENSP00000420168:A2T	A	-	1	0	GSTA2	52730701	0.025000	0.19082	0.638000	0.29380	0.055000	0.15305	-0.852000	0.04308	1.317000	0.45149	0.184000	0.17185	GCA		PASS	0.463	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		49	63	49	63	---	---	---	---
DST	667	broad.mit.edu	37	6	56457026	56457026	+	Missense_Mutation	SNP	A	A	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:56457026A>C	ENST00000361203.3	-	45	12231	c.12224T>G	c.(12223-12225)aTt>aGt	p.I4075S	DST_ENST00000370788.2_Missense_Mutation_p.I1989S|DST_ENST00000370754.5_Missense_Mutation_p.I4255S|DST_ENST00000312431.6_Missense_Mutation_p.I4075S|DST_ENST00000446842.2_Missense_Mutation_p.I3751S|DST_ENST00000370769.4_Missense_Mutation_p.I4077S|DST_ENST00000244364.6_Missense_Mutation_p.I1663S|DST_ENST00000421834.2_Missense_Mutation_p.I1989S			Q03001	DYST_HUMAN	dystonin	4075					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.I4077S(1)|p.I1663S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCCACCGCAATAGGTTCAGA	0.448																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6499-6501)ATT>AGT		dystonin isoform 2							84.0	81.0	82.0					6																	56457026		1875	4106	5981	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56457026A>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12224T>G	6.37:g.56457026A>C	ENSP00000354508:p.Ile4075Ser					DST_uc003pcz.3_Missense_Mutation_p.I1989S|DST_uc011dxj.1_Missense_Mutation_p.I2018S|DST_uc011dxk.1_Missense_Mutation_p.I2029S|DST_uc003pcy.3_Missense_Mutation_p.I1663S|DST_uc010kaa.1_RNA	p.I2167S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		43	6528	-	Lung NSC(77;0.103)		4075			Spectrin 3.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6500T>G		.	.	.	.	.	.	.	.	.	.	A	19.08	3.757998	0.69648	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.51574	1.26;1.26;1.26;1.26;1.26;0.7;1.26;1.26	5.8	5.8	0.92144	.	0.000000	0.52532	D	0.000069	T	0.57213	0.2038	L	0.55481	1.735	0.29194	N	0.875695	D;D;D;P;D	0.89917	0.987;1.0;0.999;0.864;0.974	P;D;D;P;P	0.85130	0.856;0.997;0.968;0.724;0.886	T	0.60742	-0.7203	9	0.54805	T	0.06	.	16.1537	0.81640	1.0:0.0:0.0:0.0	.	1989;4077;4255;4075;1663	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	1663;4255;4077;1989;3751;4075;1989;4075	ENSP00000244364:I1663S;ENSP00000359790:I4255S;ENSP00000359805:I4077S;ENSP00000400883:I1989S;ENSP00000393645:I3751S;ENSP00000307959:I4075S;ENSP00000359824:I1989S;ENSP00000354508:I4075S	ENSP00000244364:I1663S	I	-	2	0	DST	56564985	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.659000	0.91116	2.213000	0.71641	0.528000	0.53228	ATT		PASS	0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	31	17	31	---	---	---	---
DST	667	broad.mit.edu	37	6	56504519	56504519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:56504519A>T	ENST00000361203.3	-	16	2046	c.2039T>A	c.(2038-2040)tTa>tAa	p.L680*	DST_ENST00000370788.2_Nonsense_Mutation_p.L680*|DST_ENST00000518935.1_Nonsense_Mutation_p.L354*|DST_ENST00000370754.5_Nonsense_Mutation_p.L858*|DST_ENST00000312431.6_Nonsense_Mutation_p.L680*|DST_ENST00000446842.2_Nonsense_Mutation_p.L354*|DST_ENST00000370769.4_Nonsense_Mutation_p.L680*|DST_ENST00000244364.6_Nonsense_Mutation_p.L354*|DST_ENST00000370765.6_Nonsense_Mutation_p.L354*|DST_ENST00000421834.2_Nonsense_Mutation_p.L680*			Q03001	DYST_HUMAN	dystonin	680					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L354*(3)|p.L680*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGACTCTCTAATCTGTGCAA	0.328																																						uc003pdf.2																			4	Substitution - Nonsense(4)		lung(4)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2572-2574)TTA>TAA		dystonin isoform 2							123.0	137.0	133.0					6																	56504519		2202	4298	6500	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504519A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2039T>A	6.37:g.56504519A>T	ENSP00000354508:p.Leu680*					DST_uc003pcz.3_Nonsense_Mutation_p.L680*|DST_uc011dxj.1_Nonsense_Mutation_p.L709*|DST_uc011dxk.1_Nonsense_Mutation_p.L720*|DST_uc011dxl.1_Nonsense_Mutation_p.L709*|DST_uc003pcy.3_Nonsense_Mutation_p.L354*|DST_uc003pdb.2_Nonsense_Mutation_p.L354*|DST_uc003pdc.3_Nonsense_Mutation_p.L354*|DST_uc003pdd.3_Nonsense_Mutation_p.L354*|DST_uc003pde.2_Nonsense_Mutation_p.L796*	p.L858*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		19	2601	-	Lung NSC(77;0.103)		680					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.2573T>A		.	.	.	.	.	.	.	.	.	.	A	34	5.307265	0.95629	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.	.	.	5.56	5.56	0.83823	.	0.000000	0.40144	N	0.001179	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7146	0.77658	1.0:0.0:0.0:0.0	.	.	.	.	X	354;858;680;680;354;680;680;680;354;720;354;354	.	ENSP00000244364:L354X	L	-	2	0	DST	56612478	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.962000	0.93254	2.116000	0.64780	0.455000	0.32223	TTA		PASS	0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		108	160	108	160	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64394311	64394311	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:64394311G>T	ENST00000262043.3	+	4	1028	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	PHF3_ENST00000393387.1_Missense_Mutation_p.D230Y|PHF3_ENST00000509330.1_Missense_Mutation_p.D230Y			Q92576	PHF3_HUMAN	PHD finger protein 3	230					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D230Y(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGAAATGAAGGATGAAGATGG	0.378																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(688-690)GAT>TAT		PHD finger protein 3							124.0	108.0	114.0					6																	64394311		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394311G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.688G>T	6.37:g.64394311G>T	ENSP00000262043:p.Asp230Tyr					PHF3_uc010kaf.1_Missense_Mutation_p.D230Y|PHF3_uc003pem.2_Missense_Mutation_p.D183Y|PHF3_uc010kag.1_Missense_Mutation_p.D142Y|PHF3_uc010kah.1_Missense_Mutation_p.D44Y|PHF3_uc003pen.2_Missense_Mutation_p.D142Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.D230Y	p.D230Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	714	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		230					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.688G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453826	0.26161	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.55234	1.96;1.46;1.88;1.5;0.53;1.88	5.73	2.98	0.34508	.	0.192934	0.25430	N	0.030736	T	0.40448	0.1117	L	0.50333	1.59	0.28137	N	0.929956	P;P	0.49783	0.664;0.928	B;P	0.53593	0.233;0.73	T	0.25710	-1.0124	10	0.87932	D	0	-5.299	7.5938	0.28035	0.2526:0.1097:0.6377:0.0	.	230;230	Q92576;D6R9X2	PHF3_HUMAN;.	Y	44;142;230;183;230;230	ENSP00000424694:D44Y;ENSP00000425227:D142Y;ENSP00000262043:D230Y;ENSP00000424078:D183Y;ENSP00000422841:D230Y;ENSP00000377048:D230Y	ENSP00000262043:D230Y	D	+	1	0	PHF3	64452270	1.000000	0.71417	0.403000	0.26384	0.960000	0.62799	1.429000	0.34903	0.779000	0.33543	0.650000	0.86243	GAT		PASS	0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			61	111	61	111	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446610	85446610	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:85446610T>A	ENST00000369663.5	-	8	1954	c.1617A>T	c.(1615-1617)aaA>aaT	p.K539N	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	539					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.K539N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGGCAGCCAGTTTGGGGGATG	0.502																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1615-1617)AAA>AAT		T-box 18							83.0	97.0	92.0					6																	85446610		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446610T>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1617A>T	6.37:g.85446610T>A	ENSP00000358677:p.Lys539Asn					TBX18_uc010kbq.1_Intron	p.K539N	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1617	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	539					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1617A>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938870	0.52972	.	.	ENSG00000112837	ENST00000369663	D	0.88201	-2.35	5.26	2.88	0.33553	.	0.379473	0.08080	U	1.000000	T	0.79458	0.4449	N	0.14661	0.345	0.45194	D	0.9982	D	0.55605	0.972	P	0.53360	0.724	T	0.71421	-0.4598	10	0.56958	D	0.05	.	9.0766	0.36525	0.0:0.2176:0.0:0.7824	.	539	O95935	TBX18_HUMAN	N	539	ENSP00000358677:K539N	ENSP00000358677:K539N	K	-	3	2	TBX18	85503329	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.007000	0.29860	0.336000	0.23639	-0.334000	0.08254	AAA		PASS	0.502	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		90	122	90	122	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91226264	91226264	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:91226264C>T	ENST00000369329.3	-	17	1938	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E247K|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E566K	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	593					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.E566K(1)|p.E593K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGATGACCTCTAGTTGTTTT	0.378																																						uc003pnz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(1777-1779)GAG>AAG		mitogen-activated protein kinase kinase kinase 7							143.0	140.0	141.0					6																	91226264		2203	4299	6502	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91226264C>T	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1777G>A	6.37:g.91226264C>T	ENSP00000358335:p.Glu593Lys					MAP3K7_uc003pny.1_Missense_Mutation_p.E130K|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Missense_Mutation_p.E566K|MAP3K7_uc003poc.1_3'UTR	p.E593K	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	17	1939	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	593					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1777G>A	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729229	0.69074	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	T;T	0.79749	-1.27;-1.3	5.4	5.4	0.78164	.	0.090906	0.85682	D	0.000000	T	0.71091	0.3299	L	0.57536	1.79	0.80722	D	1	P;B	0.40731	0.728;0.034	B;B	0.32980	0.156;0.01	T	0.78175	-0.2306	10	0.72032	D	0.01	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	566;593	O43318-2;O43318	.;M3K7_HUMAN	K	566;593;247	ENSP00000358338:E566K;ENSP00000358335:E593K	ENSP00000358326:E247K	E	-	1	0	MAP3K7	91282985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.849000	0.62882	2.684000	0.91462	0.650000	0.86243	GAG		PASS	0.378	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		88	163	88	163	---	---	---	---
GPR63	81491	broad.mit.edu	37	6	97246999	97246999	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:97246999C>A	ENST00000229955.3	-	2	954	c.609G>T	c.(607-609)tgG>tgT	p.W203C	GPR63_ENST00000417980.1_Missense_Mutation_p.W203C	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.W203C(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGAAGTTGCCCAAGAAACTG	0.463																																						uc010kcl.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(607-609)TGG>TGT		G protein-coupled receptor 63							79.0	76.0	77.0					6																	97246999		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246999C>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.609G>T	6.37:g.97246999C>A	ENSP00000229955:p.Trp203Cys					GPR63_uc003pou.2_Missense_Mutation_p.W203C	p.W203C	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1087	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	203			Helical; Name=4; (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.609G>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593568	0.66219	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	D;D;D	0.88818	-2.43;-2.43;-2.43	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96583	0.9432	10	0.87932	D	0	-1.9613	19.3188	0.94229	0.0:1.0:0.0:0.0	.	203	Q9BZJ6	GPR63_HUMAN	C	227;203;203;203	ENSP00000393170:W203C;ENSP00000229955:W203C;ENSP00000358273:W203C	ENSP00000229955:W203C	W	-	3	0	GPR63	97353720	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.445000	0.80570	2.652000	0.90054	0.650000	0.86243	TGG		PASS	0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			68	90	68	90	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97561847	97561847	+	Silent	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:97561847T>C	ENST00000369261.4	+	7	1179	c.816T>C	c.(814-816)taT>taC	p.Y272Y	KLHL32_ENST00000536676.1_Silent_p.Y236Y|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.Y203Y	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	272								p.Y272Y(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGAGCATCTATGCACAGCCTG	0.537																																						uc010kcm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(814-816)TAT>TAC		kelch-like 32							104.0	86.0	92.0					6																	97561847		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97561847T>C	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.816T>C	6.37:g.97561847T>C						KLHL32_uc003poy.2_Silent_p.Y272Y|KLHL32_uc011ead.1_Silent_p.Y236Y|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.Y203Y|KLHL32_uc003ppa.2_Intron	p.Y272Y	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1288	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	272					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.816T>C	CCDS5038.1																																																																																				PASS	0.537	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		39	50	39	50	---	---	---	---
FIG4	9896	broad.mit.edu	37	6	110059537	110059537	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:110059537G>T	ENST00000230124.3	+	7	780	c.656G>T	c.(655-657)gGg>gTg	p.G219V	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	219	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.G219V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GGGGTATTTGGGATCTGTAGT	0.299																																						uc003ptt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)GGG>GTG		Sac domain-containing inositol phosphatase 3							127.0	131.0	129.0					6																	110059537		2203	4299	6502	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110059537G>T	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.656G>T	6.37:g.110059537G>T	ENSP00000230124:p.Gly219Val					FIG4_uc011eau.1_Intron	p.G219V	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	7	871	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	219			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.656G>T	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168559	0.57584	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.56941	0.43;0.43	5.77	4.9	0.64082	Synaptojanin, N-terminal (2);	0.328144	0.31989	N	0.006757	T	0.52108	0.1714	M	0.76727	2.345	0.80722	D	1	P	0.49635	0.926	P	0.52646	0.705	T	0.53322	-0.8455	10	0.26408	T	0.33	-9.7527	14.5931	0.68383	0.0695:0.0:0.9305:0.0	.	219	Q92562	FIG4_HUMAN	V	219;198	ENSP00000230124:G219V;ENSP00000412156:G198V	ENSP00000230124:G219V	G	+	2	0	FIG4	110166230	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	1.444000	0.47605	0.655000	0.94253	GGG		PASS	0.299	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		55	164	55	164	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118556697	118556697	+	Silent	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:118556697A>G	ENST00000360388.4	+	3	576	c.375A>G	c.(373-375)ttA>ttG	p.L125L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	125					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L125L(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGGCAATTTTACGACGAAGAT	0.378																																						uc003pxx.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(373-375)TTA>TTG		solute carrier family 35, member F1							109.0	104.0	106.0					6																	118556697		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118556697A>G	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.375A>G	6.37:g.118556697A>G							p.L125L	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	3	576	+			125					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.375A>G	CCDS34524.1																																																																																				PASS	0.378	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		50	68	50	68	---	---	---	---
PLN	5350	broad.mit.edu	37	6	118880183	118880183	+	Silent	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:118880183C>T	ENST00000357525.5	+	2	291	c.99C>T	c.(97-99)atC>atT	p.I33I	CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000368491.3_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	33					adrenergic receptor signaling pathway involved in heart process (GO:0086023)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cardiac muscle tissue development (GO:0048738)|cytosolic calcium ion homeostasis (GO:0051480)|negative regulation of ATPase activity (GO:0032780)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion import into sarcoplasmic reticulum (GO:1902081)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium-transporting ATPase activity (GO:1901895)|negative regulation of catalytic activity (GO:0043086)|negative regulation of heart rate (GO:0010459)|protein homooligomerization (GO:0051260)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart contraction (GO:0008016)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of the force of heart contraction by cardiac conduction (GO:0086092)|relaxation of cardiac muscle (GO:0055119)|response to testosterone (GO:0033574)|response to zinc ion (GO:0010043)	calcium ion-transporting ATPase complex (GO:0090534)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|vesicle (GO:0031982)	ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calcium channel regulator activity (GO:0005246)|enzyme inhibitor activity (GO:0004857)|identical protein binding (GO:0042802)	p.I33I(1)|p.I33M(1)		large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		ATCTATTTATCAATTTCTGTC	0.413																																						uc003pye.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(97-99)ATC>ATT		phospholamban							183.0	165.0	171.0					6																	118880183		2203	4300	6503	SO:0001819	synonymous_variant	5350				blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding	g.chr6:118880183C>T		CCDS5120.1	6q22.1	2014-09-17			ENSG00000198523	ENSG00000198523			9080	protein-coding gene	gene with protein product		172405		PLB		1828805	Standard	NM_002667		Approved	CMD1P	uc003pye.3	P26678	OTTHUMG00000015462	ENST00000357525.5:c.99C>T	6.37:g.118880183C>T						C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron	p.I33I	NM_002667	NP_002658	P26678	PPLA_HUMAN		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)	2	310	+		all_cancers(87;0.0916)|all_epithelial(87;0.131)	33			Helical; (Potential).			Silent	SNP	ENST00000357525.5	37	c.99C>T	CCDS5120.1																																																																																				PASS	0.413	PLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041993.1	NM_002667		5	190	5	190	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129748927	129748927	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:129748927G>T	ENST00000421865.2	+	41	5945	c.5896G>T	c.(5896-5898)Gat>Tat	p.D1966Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1966	Domain II and I.				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.D1966Y(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)		ATTAAAGGAAGATGCCAAAGG	0.398																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(5896-5898)GAT>TAT		laminin alpha 2 subunit isoform a precursor							127.0	125.0	126.0					6																	129748927		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.chr6:129748927G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5896G>T	6.37:g.129748927G>T	ENSP00000400365:p.Asp1966Tyr					LAMA2_uc003qbo.2_Missense_Mutation_p.D1966Y	p.D1966Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	41	6001	+			1966			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5896G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249703	0.39797	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.23552	1.9	5.92	2.26	0.28386	.	0.963610	0.08687	N	0.908572	T	0.10594	0.0259	L	0.44542	1.39	0.36973	D	0.893922	P;P	0.40875	0.731;0.731	B;B	0.36959	0.237;0.237	T	0.10894	-1.0610	10	0.59425	D	0.04	.	9.2479	0.37539	0.2748:0.0:0.7252:0.0	.	1966;1966	A6NF00;P24043	.;LAMA2_HUMAN	Y	1966	ENSP00000400365:D1966Y	ENSP00000346769:D1966Y	D	+	1	0	LAMA2	129790620	0.989000	0.36119	0.909000	0.35828	0.910000	0.53928	1.755000	0.38379	0.141000	0.18875	-0.225000	0.12378	GAT		PASS	0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			85	40	85	40	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133065441	133065441	+	Nonstop_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:133065441A>G	ENST00000326499.6	-	7	1685	c.1561T>C	c.(1561-1563)Tag>Cag	p.*521Q	VNN2_ENST00000525270.1_Nonstop_Mutation_p.*468Q|VNN2_ENST00000525289.1_Nonstop_Mutation_p.*300Q	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	0					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.*521Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAGACGCCCTATAACATTACA	0.368																																						uc003qdt.2																			1	Nonstop extension(1)		lung(1)		0						c.(1561-1563)TAG>CAG		vanin 2 isoform 1 precursor							87.0	94.0	92.0					6																	133065441		2203	4300	6503	SO:0001578	stop_lost	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133065441A>G	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1561T>C	6.37:g.133065441A>G	ENSP00000322276:p.*521Gluext*28					VNN2_uc003qds.2_Nonstop_Mutation_p.*230Q|VNN2_uc010kgb.2_Nonstop_Mutation_p.*300Q|VNN2_uc003qdv.2_Nonstop_Mutation_p.*468Q	p.*521Q	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	7	1572	-			521					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Nonstop_Mutation	SNP	ENST00000326499.6	37	c.1561T>C	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	A	8.998	0.979284	0.18812	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	.	.	.	3.06	0.361	0.16107	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6146	0.12420	0.6133:0.1965:0.0:0.1901	.	.	.	.	Q	521;468;300	.	.	X	-	1	0	VNN2	133107134	0.024000	0.19004	0.000000	0.03702	0.004000	0.04260	0.734000	0.26101	0.069000	0.16605	0.482000	0.46254	TAG		PASS	0.368	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			42	17	42	17	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136589379	136589379	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:136589379C>A	ENST00000531224.1	-	10	2570	c.2318G>T	c.(2317-2319)aGa>aTa	p.R773I	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R773I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R600I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R771I|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R771I|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R771I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	773					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R773I(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTTCTTCTCTTTCCTTCTT	0.383																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2317-2319)AGA>ATA		BCL2-associated transcription factor 1 isoform							164.0	151.0	155.0					6																	136589379		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589379C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2318G>T	6.37:g.136589379C>A	ENSP00000435210:p.Arg773Ile					BCLAF1_uc011edb.1_Missense_Mutation_p.R101I|BCLAF1_uc003qgw.1_Missense_Mutation_p.R600I|BCLAF1_uc003qgy.1_Missense_Mutation_p.R771I|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R771I	p.R773I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2571	-	Colorectal(23;0.24)		773					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2318G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.238804|4.238804	0.79800|0.79800	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000534762|ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	.|T;T;T;T;T;T	.|0.16457	.|2.34;2.34;2.34;2.34;2.34;2.34	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;D;D;P;P	.|0.69078	.|0.919;0.997;0.958;0.919;0.919	.|P;P;P;P;P	.|0.62382	.|0.504;0.901;0.654;0.504;0.504	T|T	0.32322|0.32322	-0.9911|-0.9911	5|10	.|0.56958	.|D	.|0.05	-9.7938|-9.7938	19.1534|19.1534	0.93499|0.93499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|771;101;771;773;600	.|Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.|.;.;.;BCLF1_HUMAN;.	N|I	39|773;771;773;600;771;771	.|ENSP00000435210:R773I;ENSP00000229446:R771I;ENSP00000435441:R773I;ENSP00000436501:R600I;ENSP00000434826:R771I;ENSP00000376159:R771I	.|ENSP00000229446:R771I	K|R	-|-	3|2	2|0	BCLAF1|BCLAF1	136631072|136631072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.585000|4.585000	0.60977|0.60977	2.549000|2.549000	0.85964|0.85964	0.484000|0.484000	0.47621|0.47621	AAG|AGA		PASS	0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		38	113	38	113	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152647160	152647160	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:152647160A>T	ENST00000367255.5	-	80	15972	c.15371T>A	c.(15370-15372)tTg>tAg	p.L5124*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5053*|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5053*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5124*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5124					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L5124*(2)|p.L5053*(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAACTCAGACAATTTCTTTTC	0.373										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(15370-15372)TTG>TAG		spectrin repeat containing, nuclear envelope 1							139.0	141.0	141.0					6																	152647160		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647160A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15371T>A	6.37:g.152647160A>T	ENSP00000356224:p.Leu5124*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.L5053*|SYNE1_uc003qou.3_Nonsense_Mutation_p.L5124*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.L879*	p.L5124*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	80	15973	-		Ovarian(120;0.0955)	5124			Spectrin 16.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.15371T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	58	31.412629	0.99979	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	.	.	.	6.07	6.07	0.98685	.	0.000000	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	X	5124;5053;5124;5053	.	ENSP00000265368:L5124X	L	-	2	0	SYNE1	152688853	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	8.476000	0.90421	2.326000	0.78906	0.533000	0.62120	TTG		PASS	0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	14	29	14	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5103389	5103389	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:5103389A>T	ENST00000353796.3	+	6	626	c.302A>T	c.(301-303)cAa>cTa	p.Q101L	RBAK_ENST00000396912.1_Missense_Mutation_p.Q101L|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	101					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q101L(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CATTCAAGGCAAGCTGCTTGT	0.353																																						uc010kss.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(301-303)CAA>CTA		RB-associated KRAB repressor							75.0	70.0	72.0					7																	5103389		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103389A>T	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.302A>T	7.37:g.5103389A>T	ENSP00000275423:p.Gln101Leu					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.Q101L	p.Q101L	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	626	+		Ovarian(82;0.0175)	101					A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.302A>T	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	1.819	-0.472709	0.04445	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.08720	3.06;3.06	3.08	1.92	0.25849	.	0.864916	0.09732	N	0.762997	T	0.09202	0.0227	L	0.57536	1.79	0.24021	N	0.99615	B	0.19331	0.035	B	0.15052	0.012	T	0.19031	-1.0318	8	.	.	.	.	6.3932	0.21599	0.8721:0.0:0.1279:0.0	.	101	Q9NYW8	RBAK_HUMAN	L	101	ENSP00000275423:Q101L;ENSP00000380120:Q101L	.	Q	+	2	0	RBAK	5069915	0.006000	0.16342	0.004000	0.12327	0.518000	0.34316	1.367000	0.34204	0.581000	0.29539	0.454000	0.30748	CAA		PASS	0.353	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		72	15	72	15	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7612910	7612910	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:7612910A>T	ENST00000340080.4	+	4	1225	c.804A>T	c.(802-804)aaA>aaT	p.K268N	MIOS_ENST00000405785.1_Missense_Mutation_p.K268N	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	268						lysosomal membrane (GO:0005765)		p.K268N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCAACCAAAACCCTTAACAA	0.393																																						uc003srf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)AAA>AAT		missing oocyte, meiosis regulator, homolog							97.0	89.0	92.0					7																	7612910		1865	4101	5966	SO:0001583	missense	54468							g.chr7:7612910A>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.804A>T	7.37:g.7612910A>T	ENSP00000339881:p.Lys268Asn					MIOS_uc010ktp.1_Missense_Mutation_p.K268N	p.K268N	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			4	1112	+			268			WD 5.		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.804A>T	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387260	0.25031	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.65549	-0.16;-0.16	4.64	-2.14	0.07123	WD40/YVTN repeat-like-containing domain (1);	0.051430	0.64402	D	0.000001	T	0.51058	0.1652	L	0.49350	1.555	0.58432	D	0.999998	B	0.24768	0.111	B	0.19391	0.025	T	0.40627	-0.9553	10	0.48119	T	0.1	-19.3352	12.6359	0.56683	0.6729:0.0:0.3271:0.0	.	268	Q9NXC5	MIO_HUMAN	N	268	ENSP00000339881:K268N;ENSP00000384088:K268N	ENSP00000339881:K268N	K	+	3	2	MIOS	7579435	0.979000	0.34478	0.981000	0.43875	0.979000	0.70002	0.171000	0.16685	-0.441000	0.07201	-0.248000	0.11899	AAA		PASS	0.393	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		180	32	180	32	---	---	---	---
NME8	51314	broad.mit.edu	37	7	37907339	37907339	+	Silent	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:37907339T>C	ENST00000199447.4	+	11	1029	c.657T>C	c.(655-657)agT>agC	p.S219S	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.S219S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	219	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.S219S(1)									TTATGACAAGTGGCTTAAGCT	0.403																																						uc003tfn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(655-657)AGT>AGC		thioredoxin domain containing 3							133.0	124.0	127.0					7																	37907339		2203	4300	6503	SO:0001819	synonymous_variant	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37907339T>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.657T>C	7.37:g.37907339T>C							p.S219S	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			11	1029	+			219			NDK 1.		Q9NZH1	Silent	SNP	ENST00000199447.4	37	c.657T>C	CCDS5452.1																																																																																				PASS	0.403	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		119	24	119	24	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42011972	42011972	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:42011972G>A	ENST00000395925.3	-	13	2151	c.2067C>T	c.(2065-2067)tgC>tgT	p.C689C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	689					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C689C(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCACCTGGAGGCATTCTTCCC	0.562									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2065-2067)TGC>TGT		GLI-Kruppel family member GLI3							157.0	162.0	160.0					7																	42011972		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42011972G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2067C>T	7.37:g.42011972G>A						GLI3_uc011kbg.1_Silent_p.C630C	p.C689C	NM_000168	NP_000159	P10071	GLI3_HUMAN			13	2158	-			689					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.2067C>T	CCDS5465.1																																																																																				PASS	0.562	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		14	466	14	466	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70853220	70853220	+	Splice_Site	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:70853220G>T	ENST00000333538.5	+	3	1056		c.e3-1		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17						protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCTTCCCCAGGTGTAAGGAG	0.517																																						uc003tvy.2																			1	Unknown(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.e3-1		UDP-GalNAc:polypeptide							90.0	83.0	86.0					7																	70853220		2203	4300	6503	SO:0001630	splice_region_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853220G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.423-1G>T	7.37:g.70853220G>T						WBSCR17_uc003tvz.2_Splice_Site	p.K141_splice	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	423	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)						Q8NFV9|Q9NTA8	Splice_Site	SNP	ENST00000333538.5	37	c.423_splice	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776600	0.70107	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8267	0.92122	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBSCR17	70491156	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	9.803000	0.99136	2.755000	0.94549	0.650000	0.86243	.		PASS	0.517	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	Intron	95	92	95	92	---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87912145	87912145	+	Silent	SNP	A	A	G	rs563995036		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:87912145A>G	ENST00000380079.4	-	3	896	c.795T>C	c.(793-795)gcT>gcC	p.A265A	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Silent_p.A265A|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	265	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.A265A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTAGAATGGCAGCAATAACAC	0.453																																						uc003ujs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(793-795)GCT>GCC		tumor necrosis factor, alpha-induced protein 9							106.0	101.0	102.0					7																	87912145		1948	4143	6091	SO:0001819	synonymous_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912145A>G	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.795T>C	7.37:g.87912145A>G						STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Silent_p.A265A	p.A265A	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			3	900	-	Esophageal squamous(14;0.00802)		265			Ferric oxidoreductase.|Helical; (Potential).		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Silent	SNP	ENST00000380079.4	37	c.795T>C	CCDS43611.1																																																																																				PASS	0.453	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		86	14	86	14	---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95751027	95751027	+	Missense_Mutation	SNP	C	C	A	rs373632138		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:95751027C>A	ENST00000265631.5	-	17	1917	c.1781G>T	c.(1780-1782)gGt>gTt	p.G594V	SLC25A13_ENST00000416240.2_Missense_Mutation_p.G595V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G486V|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	594					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.G594V(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CAAAGTTACACCAAACTGGGG	0.353																																						uc003uof.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.(1780-1782)GGT>GTT		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						145.0	146.0	146.0					7																	95751027		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95751027C>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1781G>T	7.37:g.95751027C>A	ENSP00000265631:p.Gly594Val					SLC25A13_uc003uog.3_Missense_Mutation_p.G595V|SLC25A13_uc011kik.1_Missense_Mutation_p.G486V	p.G594V	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		17	1972	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		594			Solcar 3.|Helical; Name=6; (Potential).		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1781G>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928805	0.73327	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79554	-1.28;-1.28;-1.28	4.94	4.94	0.65067	Mitochondrial carrier domain (2);	0.124076	0.52532	D	0.000074	D	0.88426	0.6433	M	0.63169	1.94	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.74023	0.954;0.982;0.982	D	0.88912	0.3360	10	0.66056	D	0.02	-13.1516	18.753	0.91823	0.0:1.0:0.0:0.0	.	486;595;594	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	594;595;486	ENSP00000265631:G594V;ENSP00000400101:G595V;ENSP00000440484:G486V	ENSP00000265631:G594V	G	-	2	0	SLC25A13	95588963	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	7.434000	0.80377	2.758000	0.94735	0.561000	0.74099	GGT		PASS	0.353	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		158	43	158	43	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100607765	100607765	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:100607765G>T	ENST00000319509.7	+	5	1912	c.1912G>T	c.(1912-1914)Gac>Tac	p.D638Y	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2303	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.D638Y(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CATCGTGGTGGACTACCTGGT	0.607																																						uc003uxk.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							175.0	153.0	160.0					7																	100607765		876	1991	2867	SO:0001583	missense	0							g.chr7:100607765G>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1912G>T	7.37:g.100607765G>T	ENSP00000324834:p.Asp638Tyr					uc003uxl.1_Missense_Mutation_p.D538Y|uc003uxm.1_Intron|uc003uxn.1_Intron|uc010lhn.1_5'Flank								4		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.2296G>T		.	.	.	.	.	.	.	.	.	.	G	16.55	3.154182	0.57259	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.42900	0.96;0.96	2.81	2.81	0.32909	SEA (3);	.	.	.	.	T	0.57592	0.2064	M	0.62723	1.935	0.28456	N	0.916108	D	0.71674	0.998	D	0.79108	0.992	T	0.68550	-0.5379	8	0.72032	D	0.01	-12.5564	9.7213	0.40304	0.0:0.0:1.0:0.0	.	2303	Q02505	MUC3A_HUMAN	Y	638;128	ENSP00000324834:D638Y;ENSP00000406404:D128Y	ENSP00000324834:D638Y	D	+	1	0	MUC3A	100394485	0.678000	0.27586	1.000000	0.80357	0.988000	0.76386	0.985000	0.29578	1.497000	0.48584	0.514000	0.50259	GAC		PASS	0.607	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		85	173	85	173	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103206680	103206680	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:103206680C>T	ENST00000428762.1	-	33	5086	c.4927G>A	c.(4927-4929)Gaa>Aaa	p.E1643K	RELN_ENST00000343529.5_Missense_Mutation_p.E1643K|RELN_ENST00000424685.2_Missense_Mutation_p.E1643K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1643					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.E1643K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTATGTTTTCAGTGAATATC	0.348																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4927-4929)GAA>AAA		reelin isoform a							64.0	60.0	61.0					7																	103206680		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103206680C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4927G>A	7.37:g.103206680C>T	ENSP00000392423:p.Glu1643Lys					RELN_uc010liz.2_Missense_Mutation_p.E1643K	p.E1643K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	33	5087	-			1643					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4927G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012113	0.75046	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24908	1.83;1.83;1.83	6.08	6.08	0.98989	.	0.049943	0.85682	D	0.000000	T	0.41834	0.1176	L	0.27053	0.805	0.53688	D	0.999978	P;D	0.59767	0.943;0.986	P;D	0.70227	0.73;0.968	T	0.16928	-1.0386	10	0.62326	D	0.03	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	1643;1643	P78509-2;P78509	.;RELN_HUMAN	K	1643	ENSP00000392423:E1643K;ENSP00000345694:E1643K;ENSP00000388446:E1643K	ENSP00000345694:E1643K	E	-	1	0	RELN	102993916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.843000	0.62838	2.894000	0.99253	0.655000	0.94253	GAA		PASS	0.348	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		9	99	9	99	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107342503	107342503	+	Splice_Site	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:107342503G>A	ENST00000265715.3	+	17	2258		c.e17+1		SLC26A4_ENST00000541474.1_Splice_Site|SLC26A4_ENST00000543100.1_Splice_Site|SLC26A4_ENST00000544569.1_Splice_Site	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.?(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACTGCGGGTGGTAAGGTTCTG	0.438									Pendred syndrome																													uc003vep.2																			1	Unknown(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.e17+1		pendrin							72.0	57.0	62.0					7																	107342503		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107342503G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2034+1G>A	7.37:g.107342503G>A						SLC26A4_uc011kmb.1_Splice_Site_p.V265_splice|SLC26A4_uc011kmc.1_Splice_Site_p.V239_splice|SLC26A4_uc011kmd.1_Splice_Site_p.V247_splice	p.V678_splice	NM_000441	NP_000432	O43511	S26A4_HUMAN			17	2258	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37	c.2034_splice	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151592	0.38021	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6505	0.95798	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107129739	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	8.378000	0.90144	2.635000	0.89317	0.563000	0.77884	.		PASS	0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	43	8	43	8	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119914821	119914821	+	Silent	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:119914821G>C	ENST00000331113.4	+	1	1100	c.135G>C	c.(133-135)ctG>ctC	p.L45L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	45					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L45L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCATTGTGCTGAATGTGAGTG	0.602																																						uc003vjj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(133-135)CTG>CTC		potassium voltage-gated channel, Shal-related							130.0	140.0	136.0					7																	119914821		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914821G>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.135G>C	7.37:g.119914821G>C							p.L45L	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1100	+	all_neural(327;0.117)		45			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.135G>C	CCDS5776.1																																																																																				PASS	0.602	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		8	443	8	443	---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458																																						uc010lpg.2																			4	Substitution - Missense(4)		urinary_tract(2)|lung(1)|central_nervous_system(1)	lung(1)	1						c.(1453-1455)GAA>AAA		cullin 1							80.0	73.0	76.0					7																	148484186		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484186G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys					CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K	p.E485K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1979	+	Melanoma(164;0.15)		485					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1453G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA		PASS	0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		76	24	76	24	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9413685	9413685	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:9413685G>T	ENST00000310430.6	+	1	262	c.236G>T	c.(235-237)cGa>cTa	p.R79L	TNKS_ENST00000522110.1_Missense_Mutation_p.R79L|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.R79L	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	79					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R79L(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GACAGGCCCCGATCCCCGGAC	0.701																																						uc003wss.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(235-237)CGA>CTA		tankyrase, TRF1-interacting ankyrin-related							25.0	27.0	26.0					8																	9413685		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413685G>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.236G>T	8.37:g.9413685G>T	ENSP00000311579:p.Arg79Leu					TNKS_uc011kwv.1_Missense_Mutation_p.R79L|uc003wsr.1_RNA	p.R79L	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	241	+			79					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.236G>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648592	0.47258	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000522110	T;T	0.62639	0.01;0.06	4.84	2.03	0.26663	.	0.123149	0.33457	N	0.004900	T	0.41396	0.1157	N	0.19112	0.55	0.30409	N	0.779306	B;B	0.17038	0.006;0.02	B;B	0.10450	0.005;0.003	T	0.34453	-0.9828	10	0.59425	D	0.04	.	5.4286	0.16440	0.243:0.0:0.6157:0.1413	.	79;79	E7EWY6;O95271	.;TNKS1_HUMAN	L	79	ENSP00000428299:R79L;ENSP00000311579:R79L	ENSP00000311579:R79L	R	+	2	0	TNKS	9451095	0.809000	0.29036	0.999000	0.59377	0.992000	0.81027	0.991000	0.29654	0.321000	0.23259	0.655000	0.94253	CGA		PASS	0.701	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		31	13	31	13	---	---	---	---
STC1	6781	broad.mit.edu	37	8	23702537	23702537	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:23702537C>G	ENST00000290271.2	-	4	773	c.490G>C	c.(490-492)Gtc>Ctc	p.V164L	STC1_ENST00000524323.1_Missense_Mutation_p.V95L	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	164					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V164L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCTTCGGACAAGTCTGTTA	0.522																																						uc003xdw.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(490-492)GTC>CTC		stanniocalcin 1 precursor							120.0	110.0	114.0					8																	23702537		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702537C>G		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.490G>C	8.37:g.23702537C>G	ENSP00000290271:p.Val164Leu						p.V164L	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	774	-		Prostate(55;0.055)|Breast(100;0.116)	164					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.490G>C	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592623	0.46214	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	6.16	0.367	0.16140	.	0.315253	0.35349	N	0.003274	T	0.13841	0.0335	N	0.03084	-0.415	0.33333	D	0.568875	B	0.02656	0.0	B	0.01281	0.0	T	0.33828	-0.9853	9	0.06757	T	0.87	-15.5655	6.1791	0.20461	0.0:0.4748:0.1201:0.4051	.	164	P52823	STC1_HUMAN	L	164;95;95	.	ENSP00000290271:V164L	V	-	1	0	STC1	23758482	0.778000	0.28640	0.424000	0.26647	0.940000	0.58332	1.155000	0.31700	-0.211000	0.10124	-0.143000	0.13931	GTC		PASS	0.522	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			58	30	58	30	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41806877	41806877	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:41806877G>A	ENST00000396930.3	-	11	2146	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	KAT6A_ENST00000485568.1_Missense_Mutation_p.P535S|KAT6A_ENST00000265713.2_Missense_Mutation_p.P535S|KAT6A_ENST00000406337.1_Missense_Mutation_p.P535S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	535	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P535S(1)									TACAATTTGGGCAGCCTGTAA	0.348																																						uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1603-1605)CCC>TCC		MYST histone acetyltransferase (monocytic							32.0	34.0	33.0					8																	41806877		2202	4299	6501	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41806877G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1603C>T	8.37:g.41806877G>A	ENSP00000380136:p.Pro535Ser					MYST3_uc010lxc.2_Missense_Mutation_p.P535S|MYST3_uc003xon.3_Missense_Mutation_p.P535S|MYST3_uc010lxd.2_Missense_Mutation_p.P535S	p.P535S	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		11	2147	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	535			Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic.|Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1603C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747321	0.30955	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84370	0.2;0.2;0.2;-1.84	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.87985	0.6316	L	0.36672	1.1	0.80722	D	1	B;D	0.63046	0.407;0.992	B;P	0.59595	0.175;0.86	D	0.88543	0.3111	10	0.56958	D	0.05	-15.7132	19.2204	0.93795	0.0:0.0:1.0:0.0	.	535;535	A5PLL3;Q92794	.;KAT6A_HUMAN	S	535;535;535;115;535	ENSP00000265713:P535S;ENSP00000385888:P535S;ENSP00000380136:P535S;ENSP00000430606:P535S	ENSP00000265713:P535S	P	-	1	0	KAT6A	41926034	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	9.476000	0.97823	2.618000	0.88619	0.591000	0.81541	CCC		PASS	0.348	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		17	29	17	29	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43155765	43155765	+	RNA	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:43155765A>T	ENST00000522175.2	+	0	695				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.G231G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATAGGTTTGGAAGGTATAGTT	0.308																																						uc003xpz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(691-693)GGA>GGT		POTE ankyrin domain family, member A isoform 2							49.0	53.0	52.0					8																	43155765		2181	4282	6463			340441							g.chr8:43155765A>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43155765A>T						POTEA_uc003xqa.1_Silent_p.G231G	p.G231G	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			4	736	+			231			ANK 5.		A6ND17|A6ND71|Q6S8J6	Silent	SNP	ENST00000522175.2	37	c.693A>T																																																																																					PASS	0.308	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		46	55	46	55	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56015461	56015461	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:56015461T>A	ENST00000327381.6	+	1	513	c.413T>A	c.(412-414)cTg>cAg	p.L138Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	138						integral component of membrane (GO:0016021)		p.L138Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GACTACTACCTGCGCGGCCAG	0.642																																						uc003xsf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(412-414)CTG>CAG		XK, Kell blood group complex subunit-related							58.0	47.0	51.0					8																	56015461		2202	4300	6502	SO:0001583	missense	114786					integral to membrane		g.chr8:56015461T>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.413T>A	8.37:g.56015461T>A	ENSP00000328326:p.Leu138Gln						p.L138Q	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	445	+			138					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.413T>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644897	0.67358	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.64085	-0.08	5.18	5.18	0.71444	.	0.840605	0.10191	N	0.704668	T	0.67887	0.2941	L	0.55481	1.735	0.37913	D	0.931447	B	0.33044	0.395	P	0.46208	0.507	T	0.58736	-0.7584	10	0.10636	T	0.68	-11.1832	15.0236	0.71650	0.0:0.0:0.0:1.0	.	138	Q5GH76	XKR4_HUMAN	Q	138	ENSP00000328326:L138Q	ENSP00000328326:L138Q	L	+	2	0	XKR4	56178015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.532000	0.60608	1.948000	0.56530	0.528000	0.53228	CTG		PASS	0.642	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		41	80	41	80	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56435884	56435884	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:56435884G>T	ENST00000327381.6	+	3	1151	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	351						integral component of membrane (GO:0016021)		p.A351S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTGGGCCTTGGCCTCCTACCA	0.567																																						uc003xsf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(1051-1053)GCC>TCC		XK, Kell blood group complex subunit-related							76.0	68.0	71.0					8																	56435884		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56435884G>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1051G>T	8.37:g.56435884G>T	ENSP00000328326:p.Ala351Ser						p.A351S	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1083	+			351			Helical; (Potential).		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1051G>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399697	0.83120	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.66995	-0.24	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81621	-0.0850	10	0.56958	D	0.05	-0.6156	19.8155	0.96566	0.0:0.0:1.0:0.0	.	351	Q5GH76	XKR4_HUMAN	S	351	ENSP00000328326:A351S	ENSP00000328326:A351S	A	+	1	0	XKR4	56598438	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.869000	0.99810	2.682000	0.91365	0.650000	0.86243	GCC		PASS	0.567	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		20	32	20	32	---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70981880	70981880	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:70981880C>A	ENST00000276594.2	-	2	417	c.216G>T	c.(214-216)cgG>cgT	p.R72R		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	72					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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.R72R(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAGGCGCCATCCGGAAGGGGA	0.657																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(214-216)CGG>CGT		PR domain containing 14							11.0	10.0	10.0					8																	70981880		2185	4274	6459	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981880C>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.216G>T	8.37:g.70981880C>A							p.R72R	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	418	-	Breast(64;0.193)		72					Q86UX9	Silent	SNP	ENST00000276594.2	37	c.216G>T	CCDS6206.1																																																																																				PASS	0.657	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			4	5	4	5	---	---	---	---
REXO1L1P	254958	broad.mit.edu	37	8	86573743	86573743	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:86573743G>C	ENST00000379010.2	-	1	1983	c.1984C>G	c.(1984-1986)Cca>Gca	p.P662A		NM_172239.4	NP_758439.4												p.P662A(2)		endometrium(1)|lung(4)	5						CGGTGGCGTGGCTGGATCTGG	0.677																																						uc011lfw.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1480-1482)CCA>GCA		exonuclease GOR							3.0	2.0	3.0					8																	86573743		910	2102	3012	SO:0001583	missense	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573743G>C																												ENST00000379010.2:c.1984C>G	8.37:g.86573743G>C	ENSP00000368295:p.Pro662Ala						p.P494A	NM_172239	NP_758439	Q8IX06	GOR_HUMAN			1	1526	-			662						Missense_Mutation	SNP	ENST00000379010.2	37	c.1480C>G		.	.	.	.	.	.	.	.	.	.	G	3.657	-0.070246	0.07228	.	.	ENSG00000205176	ENST00000379010	T	0.17691	2.26	0.793	0.793	0.18632	.	0.260438	0.31010	N	0.008424	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.28267	-1.0049	10	0.34782	T	0.22	.	4.7632	0.13118	0.0:0.0:1.0:0.0	.	662	Q8IX06	GOR_HUMAN	A	662	ENSP00000368295:P662A	ENSP00000368295:P662A	P	-	1	0	REXO1L1	86760995	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.176000	0.16782	0.191000	0.20236	0.194000	0.17425	CCA		PASS	0.677	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			7	77	7	77	---	---	---	---
STK3	6788	broad.mit.edu	37	8	99560267	99560267	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:99560267C>T	ENST00000419617.2	-	9	1211	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	STK3_ENST00000523601.1_Missense_Mutation_p.M385I	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	357					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)	p.M357I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		CGGATTCCAACATCGTGCTAT	0.453																																						uc003yip.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(1069-1071)ATG>ATA		serine/threonine kinase 3							98.0	95.0	96.0					8																	99560267		1924	4136	6060	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99560267C>T	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1071G>A	8.37:g.99560267C>T	ENSP00000390500:p.Met357Ile					STK3_uc003yio.2_Missense_Mutation_p.M385I|STK3_uc010mbm.1_Missense_Mutation_p.M246I	p.M357I	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	9	1212	-	Breast(36;2.4e-06)	Breast(495;0.106)	357					A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1071G>A	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379168	0.42207	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.71698	-0.59;-0.58	5.74	4.68	0.58851	.	0.082381	0.85682	D	0.000000	T	0.65842	0.2730	L	0.54323	1.7	0.51233	D	0.999911	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61063	-0.7138	10	0.30854	T	0.27	.	15.6422	0.77012	0.0:0.9239:0.0:0.0761	.	357;385	Q13188;B3KYA7	STK3_HUMAN;.	I	357;385	ENSP00000390500:M357I;ENSP00000429744:M385I	ENSP00000390500:M357I	M	-	3	0	STK3	99629443	1.000000	0.71417	0.221000	0.23827	0.900000	0.52787	4.561000	0.60809	2.720000	0.93068	0.650000	0.86243	ATG		PASS	0.453	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		24	28	24	28	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113326668	113326668	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:113326668C>A	ENST00000297405.5	-	48	7783	c.7539G>T	c.(7537-7539)caG>caT	p.Q2513H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2443H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2409H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2473H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2513	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q2473H(1)|p.Q2513H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCATACACCTGAAGAACAT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7537-7539)CAG>CAT		CUB and Sushi multiple domains 3 isoform 1							95.0	91.0	93.0					8																	113326668		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326668C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7539G>T	8.37:g.113326668C>A	ENSP00000297405:p.Gln2513His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q1715H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q2473H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2409H|CSMD3_uc003ynw.1_Missense_Mutation_p.Q224H	p.Q2513H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			48	7698	-			2513			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7539G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464111	0.63513	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	4.98	4.08	0.47627	CUB (5);	0.079417	0.49305	D	0.000153	T	0.17619	0.0423	N	0.21324	0.655	0.33677	D	0.611583	P;P;P	0.44281	0.831;0.564;0.659	P;B;B	0.45998	0.5;0.427;0.382	T	0.10730	-1.0617	10	0.49607	T	0.09	.	10.2776	0.43519	0.0:0.8472:0.0:0.1527	.	2409;2513;2473	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2473;2513;1783;2409;2443	ENSP00000345799:Q2473H;ENSP00000297405:Q2513H;ENSP00000341558:Q1783H;ENSP00000412263:Q2409H;ENSP00000343124:Q2443H	ENSP00000297405:Q2513H	Q	-	3	2	CSMD3	113395844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.585000	0.46111	2.576000	0.86940	0.579000	0.79373	CAG		PASS	0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		44	78	44	78	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113649188	113649188	+	Silent	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:113649188A>G	ENST00000297405.5	-	22	3817	c.3573T>C	c.(3571-3573)ggT>ggC	p.G1191G	CSMD3_ENST00000352409.3_Silent_p.G1191G|CSMD3_ENST00000455883.2_Silent_p.G1087G|CSMD3_ENST00000343508.3_Silent_p.G1151G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1191	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1151G(1)|p.G1191G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGATTCGACTACCATATTGAG	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3571-3573)GGT>GGC		CUB and Sushi multiple domains 3 isoform 1							196.0	172.0	180.0					8																	113649188		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113649188A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3573T>C	8.37:g.113649188A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G463G|CSMD3_uc003ynt.2_Silent_p.G1151G|CSMD3_uc011lhx.1_Silent_p.G1087G	p.G1191G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			22	3732	-			1191			Sushi 6.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3573T>C	CCDS6315.1																																																																																				PASS	0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		58	82	58	82	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113933931	113933931	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:113933931C>A	ENST00000297405.5	-	10	1802	c.1558G>T	c.(1558-1560)Ggc>Tgc	p.G520C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G520C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G416C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G480C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	520	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G520C(1)|p.G480C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCTTTGCGCCCTGTAGGACA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1558-1560)GGC>TGC		CUB and Sushi multiple domains 3 isoform 1							115.0	108.0	111.0					8																	113933931		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113933931C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1558G>T	8.37:g.113933931C>A	ENSP00000297405:p.Gly520Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G480C|CSMD3_uc011lhx.1_Missense_Mutation_p.G416C	p.G520C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			10	1717	-			520			Extracellular (Potential).|Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1558G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857732	0.91433	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.48	5.48	0.80851	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.93000	0.7772	H	0.99565	4.63	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.95948	0.8952	10	0.87932	D	0	.	19.3415	0.94344	0.0:1.0:0.0:0.0	.	416;520;480	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	480;520;416;520	ENSP00000345799:G480C;ENSP00000297405:G520C;ENSP00000412263:G416C;ENSP00000343124:G520C	ENSP00000297405:G520C	G	-	1	0	CSMD3	114003107	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.818000	0.86416	2.576000	0.86940	0.655000	0.94253	GGC		PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		48	72	48	72	---	---	---	---
RAD21	5885	broad.mit.edu	37	8	117859849	117859849	+	Missense_Mutation	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:117859849T>C	ENST00000297338.2	-	14	2073	c.1786A>G	c.(1786-1788)Aag>Gag	p.K596E	RAD21_ENST00000523986.1_Missense_Mutation_p.K100E|UTP23_ENST00000520733.1_Intron|RAD21_ENST00000517749.1_Missense_Mutation_p.K34E|RAD21_ENST00000518055.1_Missense_Mutation_p.K141E|UTP23_ENST00000517820.1_Intron	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	596					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.K596E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTGTAGAACTTTGCGGCAGCT	0.423																																						uc003yod.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1786-1788)AAG>GAG		RAD21 homolog							106.0	98.0	100.0					8																	117859849		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117859849T>C	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1786A>G	8.37:g.117859849T>C	ENSP00000297338:p.Lys596Glu						p.K596E	NM_006265	NP_006256	O60216	RAD21_HUMAN			14	2074	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		596					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1786A>G	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437006	0.62955	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000517749;ENST00000518055	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	6.06	6.06	0.98353	Rad21/Rec8-like protein, C-terminal (1);Rad21/Rec8-like protein, C-terminal, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.88749	0.6521	M	0.85945	2.785	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.87579	0.2483	10	0.30078	T	0.28	-17.0031	16.6245	0.84952	0.0:0.0:0.0:1.0	.	596	O60216	RAD21_HUMAN	E	596;100;34;141	ENSP00000297338:K596E;ENSP00000428513:K100E;ENSP00000430273:K34E;ENSP00000428003:K141E	ENSP00000297338:K596E	K	-	1	0	RAD21	117929030	1.000000	0.71417	0.985000	0.45067	0.951000	0.60555	8.029000	0.88807	2.323000	0.78572	0.528000	0.53228	AAG		PASS	0.423	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		6	140	6	140	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133041424	133041424	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:133041424C>A	ENST00000443356.2	-	14	1168	c.1082G>T	c.(1081-1083)tGc>tTc	p.C361F	OC90_ENST00000262283.5_Missense_Mutation_p.C557F|OC90_ENST00000603859.1_Missense_Mutation_p.C345F|OC90_ENST00000254627.3_Missense_Mutation_p.C345F			Q02509	OC90_HUMAN	otoconin 90	361	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.C557F(1)|p.C319F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGACAAGCAGCACCTAAGACC	0.552																																						uc003ytg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1033-1035)TGC>TTC		otoconin 90							110.0	110.0	110.0					8																	133041424		2072	4202	6274	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133041424C>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1082G>T	8.37:g.133041424C>A	ENSP00000390050:p.Cys361Phe					OC90_uc011lix.1_Missense_Mutation_p.C345F	p.C345F	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		12	1034	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		361			Phospholipase A2-like 2.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1034G>T		.	.	.	.	.	.	.	.	.	.	C	18.15	3.559941	0.65538	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.52295	0.67;0.67;0.67	6.02	6.02	0.97574	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	H	0.97516	4.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86666	0.1907	10	0.87932	D	0	-18.463	17.26	0.87067	0.0:1.0:0.0:0.0	.	345;361	Q02509-2;Q02509	.;OC90_HUMAN	F	345;361;557	ENSP00000254627:C345F;ENSP00000390050:C361F;ENSP00000262283:C557F	ENSP00000254627:C345F	C	-	2	0	RP11-240B13.2;OC90	133110606	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	5.812000	0.69194	2.865000	0.98341	0.655000	0.94253	TGC		PASS	0.552	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		22	66	22	66	---	---	---	---
LRRC6	23639	broad.mit.edu	37	8	133637629	133637629	+	Missense_Mutation	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:133637629T>C	ENST00000519595.1	-	6	823	c.725A>G	c.(724-726)aAc>aGc	p.N242S	LRRC6_ENST00000250173.1_Missense_Mutation_p.N242S|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.N242S			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	242				Missing (in Ref. 1; AAB02976). {ECO:0000305}.	cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.N242S(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCTTCACTGTTGTCTAATTT	0.388																																						uc003ytk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(724-726)AAC>AGC		leucine rich repeat containing 6							211.0	205.0	207.0					8																	133637629		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133637629T>C	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.725A>G	8.37:g.133637629T>C	ENSP00000429791:p.Asn242Ser					LRRC6_uc003ytl.2_RNA	p.N242S	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		6	799	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		242	Missing (in Ref. 1; AAB02976).				Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.725A>G		.	.	.	.	.	.	.	.	.	.	T	7.735	0.699994	0.15106	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T;T	0.51574	0.87;0.94;0.7;0.87	4.34	-0.76	0.11041	.	0.727124	0.13790	N	0.362564	T	0.18341	0.0440	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20338	-1.0278	10	0.30854	T	0.27	-0.1427	8.0971	0.30835	0.0:0.3145:0.0:0.6855	.	242	Q86X45	LRRC6_HUMAN	S	242;2;242;242;242	ENSP00000429791:N242S;ENSP00000428015:N2S;ENSP00000428610:N242S;ENSP00000250173:N242S	ENSP00000250173:N242S	N	-	2	0	LRRC6	133706811	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.108000	0.15396	-0.214000	0.10078	0.523000	0.50628	AAC		PASS	0.388	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		34	43	34	43	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164776	139164776	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:139164776G>T	ENST00000395297.1	-	13	2112	c.1942C>A	c.(1942-1944)Ctg>Atg	p.L648M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	648								p.L648M(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTCCCTCAGGGTAGAACTT	0.483										HNSCC(54;0.14)																												uc003yuy.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(1942-1944)CTG>ATG		hypothetical protein LOC51059							87.0	87.0	87.0					8																	139164776		1876	4117	5993	SO:0001583	missense	51059							g.chr8:139164776G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1942C>A	8.37:g.139164776G>T	ENSP00000378710:p.Leu648Met	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L549M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L210M|FAM135B_uc003yvb.2_Missense_Mutation_p.L210M	p.L648M	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2113	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		648					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1942C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535032	0.27475	.	.	ENSG00000147724	ENST00000395297	T	0.15952	2.38	4.92	-1.84	0.07809	.	0.724952	0.11990	N	0.509886	T	0.30510	0.0767	M	0.63428	1.95	0.09310	N	1	D;D;D	0.61697	0.99;0.982;0.971	D;P;P	0.63192	0.912;0.875;0.641	T	0.13361	-1.0512	10	0.45353	T	0.12	-0.7374	9.1795	0.37131	0.3441:0.1005:0.5554:0.0	.	648;648;648	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	M	648	ENSP00000378710:L648M	ENSP00000276737:L648M	L	-	1	2	FAM135B	139233958	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.027000	0.12371	-1.015000	0.03375	-2.057000	0.00402	CTG		PASS	0.483	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		49	79	49	79	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139658919	139658919	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:139658919C>A	ENST00000303045.6	-	47	3900	c.3454G>T	c.(3454-3456)Gct>Tct	p.A1152S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A1132S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1152	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A1152S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGAGGCCCAGCCTCTCCCTGT	0.512										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3454-3456)GCT>TCT		collagen, type XXII, alpha 1							24.0	24.0	24.0					8																	139658919		2203	4299	6502	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139658919C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3454G>T	8.37:g.139658919C>A	ENSP00000303153:p.Ala1152Ser	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.A432S	p.A1152S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		47	3901	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1152			Pro-rich.|Gly-rich.|Collagen-like 10.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3454G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	0.860	-0.735680	0.03111	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94092	-3.35;-3.22	5.46	3.65	0.41850	.	0.129284	0.34580	N	0.003855	D	0.87981	0.6315	L	0.36672	1.1	0.24323	N	0.995033	B;B	0.23650	0.03;0.089	B;B	0.28638	0.055;0.092	T	0.70008	-0.4990	10	0.09338	T	0.73	.	11.475	0.50293	0.0:0.7917:0.1302:0.0782	.	1132;1152	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1152;1132;845	ENSP00000303153:A1152S;ENSP00000387655:A1132S	ENSP00000303153:A1152S	A	-	1	0	COL22A1	139728101	0.396000	0.25262	0.976000	0.42696	0.010000	0.07245	0.114000	0.15520	0.349000	0.23975	-0.795000	0.03280	GCT		PASS	0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	9	4	9	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139697541	139697541	+	Missense_Mutation	SNP	T	T	A	rs535667291		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:139697541T>A	ENST00000303045.6	-	38	3323	c.2877A>T	c.(2875-2877)gaA>gaT	p.E959D	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.E959D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	959	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E959D(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCTGCCTTCTTCCCCCGCTG	0.572										HNSCC(7;0.00092)			T|||	1	0.000199681	0.0	0.0	5008	,	,		17015	0.0		0.0	False		,,,				2504	0.001					uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2875-2877)GAA>GAT		collagen, type XXII, alpha 1							33.0	34.0	34.0					8																	139697541		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139697541T>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2877A>T	8.37:g.139697541T>A	ENSP00000303153:p.Glu959Asp	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.E259D	p.E959D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		38	3324	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		959			Pro-rich.|Gly-rich.|Collagen-like 8.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2877A>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	9.122	1.009131	0.19199	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93307	-3.2;-3.16	4.77	3.61	0.41365	.	0.665813	0.12909	U	0.429160	D	0.90215	0.6941	L	0.46947	1.48	0.24081	N	0.995947	P;P	0.40282	0.514;0.711	B;P	0.45232	0.199;0.474	T	0.79220	-0.1893	10	0.12766	T	0.61	.	6.8972	0.24262	0.0:0.104:0.0:0.896	.	959;959	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	D	959;959;672	ENSP00000303153:E959D;ENSP00000387655:E959D	ENSP00000303153:E959D	E	-	3	2	COL22A1	139766723	0.959000	0.32827	0.989000	0.46669	0.015000	0.08874	-0.190000	0.09615	0.850000	0.35239	0.368000	0.22195	GAA		PASS	0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		48	73	48	73	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145002096	145002096	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr8:145002096C>T	ENST00000322810.4	-	26	3905	c.3736G>A	c.(3736-3738)Gag>Aag	p.E1246K	PLEC_ENST00000356346.3_Missense_Mutation_p.E1095K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1109K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1077K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1132K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1109K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1136K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1087K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1113K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1246	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E1109K(1)|p.E1136K(1)|p.E1246K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTGCTCCTCGTGGGCCCTG	0.677																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(3736-3738)GAG>AAG		plectin isoform 1							13.0	17.0	16.0					8																	145002096		1915	4109	6024	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145002096C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3736G>A	8.37:g.145002096C>T	ENSP00000323856:p.Glu1246Lys					PLEC_uc003zab.1_Missense_Mutation_p.E1109K|PLEC_uc003zac.1_Missense_Mutation_p.E1113K|PLEC_uc003zad.2_Missense_Mutation_p.E1109K|PLEC_uc003zae.1_Missense_Mutation_p.E1077K|PLEC_uc003zag.1_Missense_Mutation_p.E1087K|PLEC_uc003zah.2_Missense_Mutation_p.E1095K|PLEC_uc003zaj.2_Missense_Mutation_p.E1136K	p.E1246K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			26	3906	-			1246			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3736G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429330	0.43122	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000006	T	0.69079	0.3071	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.80764	0.994;0.994;0.994;0.986;0.994;0.994;0.994;0.994	T	0.72007	-0.4420	10	0.66056	D	0.02	.	18.5594	0.91095	0.0:1.0:0.0:0.0	.	1136;1095;1087;1246;1077;1109;1113;1109	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1109;1113;1109;1077;1246;1087;1095;1136;1132	ENSP00000344848:E1109K;ENSP00000350277:E1113K;ENSP00000346602:E1109K;ENSP00000381756:E1077K;ENSP00000323856:E1246K;ENSP00000347044:E1087K;ENSP00000348702:E1095K;ENSP00000388180:E1136K;ENSP00000434583:E1132K	ENSP00000323856:E1246K	E	-	1	0	PLEC	145074084	1.000000	0.71417	0.981000	0.43875	0.204000	0.24138	4.683000	0.61679	2.534000	0.85438	0.637000	0.83480	GAG		PASS	0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	15	13	15	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14776177	14776177	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:14776177C>A	ENST00000380880.3	-	25	5250	c.4467G>T	c.(4465-4467)cgG>cgT	p.R1489R	FREM1_ENST00000380881.4_Silent_p.R1490R|FREM1_ENST00000380894.1_Silent_p.R25R|FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000422223.2_Silent_p.R1489R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1489					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.R1490R(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGTGCTCGGTCCGCAGTCCAT	0.527																																						uc003zlm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(4465-4467)CGG>CGT		FRAS1 related extracellular matrix 1 precursor							47.0	52.0	50.0					9																	14776177		2037	4182	6219	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14776177C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4467G>T	9.37:g.14776177C>A						FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Silent_p.R25R	p.R1489R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5057	-			1489			CSPG 11.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4467G>T	CCDS47952.1																																																																																				PASS	0.527	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		27	14	27	14	---	---	---	---
PIP5K1B	8395	broad.mit.edu	37	9	71503911	71503911	+	Silent	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:71503911T>C	ENST00000265382.3	+	7	638	c.333T>C	c.(331-333)agT>agC	p.S111S	PIP5K1B_ENST00000541509.1_Silent_p.S111S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	111	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.S111S(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCATCTGCAGTGAACCTCTAA	0.378																																						uc004agu.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)	1						c.(331-333)AGT>AGC		phosphatidylinositol-4-phosphate 5-kinase, type							214.0	207.0	209.0					9																	71503911		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71503911T>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.333T>C	9.37:g.71503911T>C						PIP5K1B_uc011lrq.1_Silent_p.S111S|PIP5K1B_uc004agv.2_RNA	p.S111S	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	7	638	+			111			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.333T>C	CCDS6624.1																																																																																				PASS	0.378	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		76	111	76	111	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79938034	79938034	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:79938034G>C	ENST00000360280.3	+	45	6142	c.5882G>C	c.(5881-5883)cGa>cCa	p.R1961P	VPS13A_ENST00000357409.5_Missense_Mutation_p.R1961P|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1961P|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1922P	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1961					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R1961P(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAGTGGGACGACGTCTGTAC	0.343																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(5881-5883)CGA>CCA		vacuolar protein sorting 13A isoform A							84.0	78.0	80.0					9																	79938034		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79938034G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5882G>C	9.37:g.79938034G>C	ENSP00000353422:p.Arg1961Pro					VPS13A_uc004akp.3_Missense_Mutation_p.R1961P|VPS13A_uc004akq.3_Missense_Mutation_p.R1961P|VPS13A_uc004aks.2_Missense_Mutation_p.R1922P|VPS13A_uc004akt.2_Missense_Mutation_p.R301P	p.R1961P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			45	6142	+			1961					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5882G>C	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.08|19.08	3.757635|3.757635	0.69648|0.69648	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.50548	.|0.92;0.74;0.83;0.92	4.85|4.85	3.96|3.96	0.45880|0.45880	.|.	.|0.162932	.|0.39759	.|N	.|0.001278	T|T	0.68531|0.68531	0.3011|0.3011	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.79784	.|0.993;0.987;0.972;0.993;0.993	T|T	0.72440|0.72440	-0.4293|-0.4293	5|10	.|0.54805	.|T	.|0.06	.|.	13.6583|13.6583	0.62352|0.62352	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	.|213;1922;1961;1961;1961	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	H|P	214|1961;1922;1961;1961	.|ENSP00000365821:R1961P;ENSP00000365823:R1922P;ENSP00000353422:R1961P;ENSP00000349985:R1961P	.|ENSP00000349985:R1961P	D|R	+|+	1|2	0|0	VPS13A|VPS13A	79127854|79127854	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.955000|0.955000	0.61496|0.61496	4.741000|4.741000	0.62095|0.62095	1.162000|1.162000	0.42619|0.42619	0.650000|0.650000	0.86243|0.86243	GAC|CGA		PASS	0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		28	41	28	41	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114304857	114304857	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:114304857G>C	ENST00000309235.5	+	6	1800	c.1642G>C	c.(1642-1644)Gaa>Caa	p.E548Q	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	548					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.E548Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCATACTGGAGAAAAACCCTA	0.373																																						uc004bff.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1642-1644)GAA>CAA		zinc finger protein 483 isoform a							56.0	62.0	60.0					9																	114304857		2201	4299	6500	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304857G>C	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1642G>C	9.37:g.114304857G>C	ENSP00000311679:p.Glu548Gln					ZNF483_uc004bfg.2_Intron	p.E548Q	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1866	+			548					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1642G>C	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903070	0.72754	.	.	ENSG00000173258	ENST00000309235	T	0.25912	1.77	3.98	3.98	0.46160	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000209	T	0.35335	0.0928	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.05903	-1.0857	10	0.66056	D	0.02	-24.6584	7.7532	0.28909	0.1106:0.0:0.8894:0.0	.	548	Q8TF39	ZN483_HUMAN	Q	548	ENSP00000311679:E548Q	ENSP00000311679:E548Q	E	+	1	0	ZNF483	113344678	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.486000	0.73629	2.524000	0.85096	0.655000	0.94253	GAA		PASS	0.373	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		22	96	22	96	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117849375	117849375	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:117849375G>A	ENST00000350763.4	-	3	1046	c.635C>T	c.(634-636)aCg>aTg	p.T212M	TNC_ENST00000537320.1_Missense_Mutation_p.T212M|TNC_ENST00000542877.1_Missense_Mutation_p.T212M|TNC_ENST00000346706.3_Missense_Mutation_p.T212M|TNC_ENST00000535648.1_Missense_Mutation_p.T212M|TNC_ENST00000341037.4_Missense_Mutation_p.T212M|TNC_ENST00000345230.3_Missense_Mutation_p.T212M|TNC_ENST00000340094.3_Missense_Mutation_p.T212M|TNC_ENST00000423613.2_Missense_Mutation_p.T212M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	212	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.T212M(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCCTCGCCCGTGAAGCCGTC	0.612																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(634-636)ACG>ATG		tenascin C precursor							92.0	78.0	83.0					9																	117849375		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849375G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.635C>T	9.37:g.117849375G>A	ENSP00000265131:p.Thr212Met					TNC_uc010mvf.2_Missense_Mutation_p.T212M	p.T212M	NM_002160	NP_002151	P24821	TENA_HUMAN			3	997	-			212			EGF-like 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.635C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046219	0.36085	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.10192	3.62;3.62;2.9;3.62;3.62;3.62;3.62;3.62;3.62	5.19	3.31	0.37934	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.527077	0.21541	N	0.072882	T	0.17323	0.0416	M	0.74389	2.26	0.23430	N	0.997699	P;P	0.48407	0.91;0.91	P;P	0.48795	0.59;0.521	T	0.11251	-1.0595	10	0.66056	D	0.02	.	4.8049	0.13316	0.2393:0.0:0.6056:0.1551	.	212;212	E9PC84;P24821	.;TENA_HUMAN	M	212	ENSP00000344400:T212M;ENSP00000438152:T212M;ENSP00000344555:T212M;ENSP00000345861:T212M;ENSP00000265131:T212M;ENSP00000339553:T212M;ENSP00000411406:T212M;ENSP00000443478:T212M;ENSP00000442242:T212M	ENSP00000344400:T212M	T	-	2	0	TNC	116889196	0.001000	0.12720	0.835000	0.33067	0.523000	0.34469	0.007000	0.13174	1.312000	0.45043	0.467000	0.42956	ACG		PASS	0.612	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		4	139	4	139	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118950117	118950117	+	Missense_Mutation	SNP	A	A	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:118950117A>C	ENST00000328252.3	+	2	1469	c.1100A>C	c.(1099-1101)aAc>aCc	p.N367T	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	367	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N367T(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GATCATAAGAACCCGACGGTG	0.562																																						uc004bjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(1099-1101)AAC>ACC		pregnancy-associated plasma protein A							52.0	48.0	49.0					9																	118950117		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950117A>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1100A>C	9.37:g.118950117A>C	ENSP00000330658:p.Asn367Thr					PAPPA_uc011lxp.1_Missense_Mutation_p.N160T|PAPPA_uc011lxq.1_Missense_Mutation_p.N160T	p.N367T	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1481	+			367			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1100A>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	9.458	1.092373	0.20471	.	.	ENSG00000182752	ENST00000328252	T	0.46819	0.86	5.99	5.99	0.97316	.	0.226035	0.52532	D	0.000067	T	0.53594	0.1806	M	0.77103	2.36	0.80722	D	1	B	0.21905	0.062	B	0.22386	0.039	T	0.53781	-0.8390	10	0.62326	D	0.03	-36.3113	16.4943	0.84223	1.0:0.0:0.0:0.0	.	367	Q13219	PAPP1_HUMAN	T	367	ENSP00000330658:N367T	ENSP00000330658:N367T	N	+	2	0	PAPPA	117989938	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	2.820000	0.48057	2.291000	0.77112	0.533000	0.62120	AAC		PASS	0.562	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	71	4	71	---	---	---	---
TRAF1	7185	broad.mit.edu	37	9	123688260	123688260	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:123688260C>G	ENST00000373887.3	-	2	2539	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	TRAF1_ENST00000540010.1_Missense_Mutation_p.E32Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	32					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E32Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GCCCTGGGCTCCTTTGGGTCC	0.647																																						uc004bku.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(94-96)GAG>CAG		TNF receptor-associated factor 1							47.0	47.0	47.0					9																	123688260		2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123688260C>G	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.94G>C	9.37:g.123688260C>G	ENSP00000362994:p.Glu32Gln					TRAF1_uc010mvl.1_Missense_Mutation_p.E32Q	p.E32Q	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			2	666	-			32					B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.94G>C	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167178	0.38315	.	.	ENSG00000056558	ENST00000373887;ENST00000540010	T;T	0.38560	1.13;1.13	5.63	4.68	0.58851	.	0.196541	0.43260	D	0.000586	T	0.34308	0.0893	L	0.54323	1.7	0.80722	D	1	P	0.36048	0.534	B	0.31686	0.134	T	0.09122	-1.0689	10	0.25106	T	0.35	-34.9675	11.6913	0.51516	0.0:0.8217:0.1783:0.0	.	32	Q13077	TRAF1_HUMAN	Q	32	ENSP00000362994:E32Q;ENSP00000443183:E32Q	ENSP00000362994:E32Q	E	-	1	0	TRAF1	122728081	0.614000	0.27017	0.956000	0.39512	0.154000	0.21943	2.105000	0.41825	2.648000	0.89879	0.563000	0.77884	GAG		PASS	0.647	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		22	46	22	46	---	---	---	---
RXRA	6256	broad.mit.edu	37	9	137320990	137320990	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:137320990G>T	ENST00000481739.1	+	7	999	c.947G>T	c.(946-948)cGc>cTc	p.R316L	RXRA_ENST00000540193.1_Missense_Mutation_p.R219L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	316	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.R316L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TTCTCCCACCGCTCCATCGCC	0.682																																						uc004cfb.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(946-948)CGC>CTC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						84.0	80.0	82.0					9																	137320990		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137320990G>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.947G>T	9.37:g.137320990G>T	ENSP00000419692:p.Arg316Leu					RXRA_uc004cfc.1_Missense_Mutation_p.R219L	p.R316L	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	7	1109	+			316			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.947G>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034507	0.93575	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	T;T	0.57107	0.42;0.42	4.26	4.26	0.50523	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.80497	0.4634	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.87646	0.2525	10	0.87932	D	0	.	17.0275	0.86452	0.0:0.0:1.0:0.0	.	316	P19793	RXRA_HUMAN	L	316;219	ENSP00000419692:R316L;ENSP00000442123:R219L	ENSP00000419692:R316L	R	+	2	0	RXRA	136460811	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.401000	0.97294	2.087000	0.62958	0.491000	0.48974	CGC		PASS	0.682	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		83	171	83	171	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139404224	139404225	+	Nonsense_Mutation	DNP	CC	CC	TA			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr9:139404224_139404225CC>TA	ENST00000277541.6	-	18	3004_3005	c.2929_2930GG>TA	c.(2929-2931)GGg>TAg	p.G977*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	977	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G978*(1)|p.G977E(1)|p.G977*(1)|p.G978E(1)|p.G977W(1)|p.G978W(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGTGGATCCCGCTGAAGCCT	0.658			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2929-2931)GGG>GAG|c.(2929-2931)GGG>TGG		notch1 preproprotein																																				SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404224C>T|g.chr9:139404225C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2929_2930delinsTA	9.37:g.139404224_139404225delinsTA	ENSP00000277541:p.Gly977*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.G207E|NOTCH1_uc004cia.1_Missense_Mutation_p.G207W	p.G977E|p.G977W	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2930|2929	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	977			Extracellular (Potential).|EGF-like 25; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2930G>A|c.2929G>T	CCDS43905.1																																																																																				PASS	0.658	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		90	135|137	90	135	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24727407	24727407	+	Splice_Site	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr10:24727407G>T	ENST00000376454.3	+	5	875	c.845G>T	c.(844-846)aGg>aTg	p.R282M	KIAA1217_ENST00000376452.3_Splice_Site_p.R282M|KIAA1217_ENST00000376462.1_Splice_Site_p.R202M|KIAA1217_ENST00000430453.2_Splice_Site_p.R203M|KIAA1217_ENST00000458595.1_Splice_Site_p.R282M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	282					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R282M(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAGACATGAGGGTAAGTGTT	0.408																																						uc001iru.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(844-846)AGG>ATG		sickle tail isoform 1							181.0	154.0	163.0					10																	24727407		2203	4300	6503	SO:0001630	splice_region_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24727407G>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.846+1G>T	10.37:g.24727407G>T						KIAA1217_uc001irs.2_Missense_Mutation_p.R202M|KIAA1217_uc001irt.3_Missense_Mutation_p.R282M|KIAA1217_uc010qcy.1_Missense_Mutation_p.R282M|KIAA1217_uc010qcz.1_Missense_Mutation_p.R282M|KIAA1217_uc001irv.1_Missense_Mutation_p.R132M|KIAA1217_uc010qda.1_RNA	p.R282M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			5	1248	+			282					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.845G>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584280	0.86748	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.46	5.46	0.80206	.	0.089967	0.85682	D	0.000000	D	0.83078	0.5176	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.997;0.999	D	0.84871	0.0825	10	0.87932	D	0	.	19.3041	0.94153	0.0:0.0:1.0:0.0	.	282;282;282;282	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	M	202;282;282;282;282;132;203	ENSP00000365645:R202M;ENSP00000365639:R282M;ENSP00000392625:R282M;ENSP00000365637:R282M;ENSP00000365635:R282M;ENSP00000404798:R132M;ENSP00000389680:R203M	ENSP00000365635:R282M	R	+	2	0	KIAA1217	24767413	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	9.133000	0.94460	2.583000	0.87209	0.573000	0.79308	AGG		PASS	0.408	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	Missense_Mutation	51	73	51	73	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26414384	26414384	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr10:26414384G>T	ENST00000265944.5	+	19	2127	c.1961G>T	c.(1960-1962)tGt>tTt	p.C654F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	654	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C654F(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACCTCCCACTGTGTGGTCACT	0.418																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1960-1962)TGT>TTT		myosin IIIA							100.0	94.0	96.0					10																	26414384		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414384G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1961G>T	10.37:g.26414384G>T	ENSP00000265944:p.Cys654Phe					MYO3A_uc009xko.1_Missense_Mutation_p.C654F|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.C654F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			19	2321	+			654			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1961G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904613	0.92035	.	.	ENSG00000095777	ENST00000265944	D	0.86956	-2.19	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92541	0.7631	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92357	0.5894	10	0.72032	D	0.01	.	20.2872	0.98536	0.0:0.0:1.0:0.0	.	654	Q8NEV4	MYO3A_HUMAN	F	654	ENSP00000265944:C654F	ENSP00000265944:C654F	C	+	2	0	MYO3A	26454390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.799000	0.96334	0.585000	0.79938	TGT		PASS	0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		68	91	68	91	---	---	---	---
ANKRD22	118932	broad.mit.edu	37	10	90591649	90591649	+	Missense_Mutation	SNP	A	A	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr10:90591649A>C	ENST00000371930.4	-	2	366	c.156T>G	c.(154-156)caT>caG	p.H52Q		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	52								p.H52Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CGATTCTCACATGCCCTCGCC	0.458																																						uc001kfj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CAT>CAG		ankyrin repeat domain 22							232.0	216.0	221.0					10																	90591649		2203	4300	6503	SO:0001583	missense	118932							g.chr10:90591649A>C	BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.156T>G	10.37:g.90591649A>C	ENSP00000360998:p.His52Gln						p.H52Q	NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)	2	524	-		Colorectal(252;0.0163)	52			ANK 1.		B2R9Y7|Q8WU06	Missense_Mutation	SNP	ENST00000371930.4	37	c.156T>G	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	A	8.447	0.852266	0.17106	.	.	ENSG00000152766	ENST00000371930	T	0.66460	-0.21	5.33	0.013	0.14094	Ankyrin repeat-containing domain (4);	0.260926	0.43110	D	0.000608	T	0.59756	0.2217	L	0.41632	1.29	0.19300	N	0.999974	B	0.33044	0.395	B	0.43052	0.406	T	0.55711	-0.8098	10	0.46703	T	0.11	-8.3015	9.0066	0.36115	0.4019:0.0:0.5981:0.0	.	52	Q5VYY1	ANR22_HUMAN	Q	52	ENSP00000360998:H52Q	ENSP00000360998:H52Q	H	-	3	2	ANKRD22	90581629	0.826000	0.29277	0.007000	0.13788	0.023000	0.10783	0.420000	0.21263	0.254000	0.21573	-1.145000	0.01858	CAT		PASS	0.458	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1	NM_144590		154	100	154	100	---	---	---	---
CARS	833	broad.mit.edu	37	11	3022364	3022364	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:3022364G>A	ENST00000397111.5	-	22	2472	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	CARS_ENST00000401769.3_3'UTR|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000397114.3_Nonsense_Mutation_p.Q733*|CARS_ENST00000380525.4_Nonsense_Mutation_p.Q826*|CARS_ENST00000470221.2_5'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	743					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.Q826*(1)|p.Q743*(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCCATTCTGGGCCATCTGC	0.522			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	2	Substitution - Nonsense(2)		lung(2)	soft_tissue(5)|ovary(2)	7						c.(2227-2229)CAG>TAG		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						166.0	151.0	156.0					11																	3022364		2202	4299	6501	SO:0001587	stop_gained	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3022364G>A	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2227C>T	11.37:g.3022364G>A	ENSP00000380300:p.Gln743*					CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Nonsense_Mutation_p.Q733*|CARS_uc001lxf.2_Nonsense_Mutation_p.Q826*|CARS_uc001lxg.2_3'UTR|CARS_uc010qxo.1_3'UTR|CARS_uc010qxp.1_3'UTR	p.Q743*	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	22	2301	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	743					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Nonsense_Mutation	SNP	ENST00000397111.5	37	c.2227C>T	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	38	6.925280	0.97940	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000397114	.	.	.	4.77	3.83	0.44106	.	0.401276	0.22473	N	0.059585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-19.6654	12.5428	0.56182	0.0:0.0:0.8332:0.1668	.	.	.	.	X	826;743;733	.	ENSP00000369897:Q826X	Q	-	1	0	CARS	2978940	1.000000	0.71417	0.018000	0.16275	0.009000	0.06853	8.256000	0.89848	1.169000	0.42739	0.655000	0.94253	CAG		PASS	0.522	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		101	51	101	51	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19955123	19955123	+	Missense_Mutation	SNP	G	G	A	rs143571074		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:19955123G>A	ENST00000396087.3	+	8	1501	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	NAV2_ENST00000349880.4_Missense_Mutation_p.A445T|NAV2_ENST00000396085.1_Missense_Mutation_p.A445T|NAV2_ENST00000360655.4_Missense_Mutation_p.A381T|NAV2_ENST00000540292.1_Missense_Mutation_p.A399T|NAV2_ENST00000527559.2_Missense_Mutation_p.A397T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	468					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A468T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGGAGGCCGCCAGTCGCAT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14319	0.0		0.0	False		,,,				2504	0.0					uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(1402-1404)GCC>ACC		neuron navigator 2 isoform 2							38.0	44.0	42.0					11																	19955123		2198	4292	6490	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955123G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1402G>A	11.37:g.19955123G>A	ENSP00000379396:p.Ala468Thr					NAV2_uc001mpp.2_Missense_Mutation_p.A381T|NAV2_uc001mpr.3_Missense_Mutation_p.A445T	p.A468T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			8	1763	+			468					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.1402G>A	CCDS58126.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.691	-0.273106	0.05716	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.27720	1.65;1.76;1.76;1.75;1.65;1.65	5.42	-0.339	0.12647	.	0.754197	0.12384	N	0.473613	T	0.19005	0.0456	L	0.33485	1.01	0.18873	N	0.999983	B;B	0.15141	0.012;0.012	B;B	0.15484	0.013;0.006	T	0.27088	-1.0084	9	.	.	.	.	6.2843	0.21025	0.3672:0.1175:0.5153:0.0	.	445;381	Q8IVL1-3;Q8IVL1-4	.;.	T	381;445;445;468;397;399	ENSP00000353871:A381T;ENSP00000379394:A445T;ENSP00000309577:A445T;ENSP00000379396:A468T;ENSP00000435395:A397T;ENSP00000443489:A399T	.	A	+	1	0	NAV2	19911699	0.000000	0.05858	0.002000	0.10522	0.369000	0.29798	-0.439000	0.06897	-0.350000	0.08262	-0.463000	0.05309	GCC		PASS	0.642	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		17	183	17	183	---	---	---	---
KIF18A	81930	broad.mit.edu	37	11	28056982	28056982	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:28056982G>C	ENST00000263181.6	-	15	2746	c.2456C>G	c.(2455-2457)tCc>tGc	p.S819C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	819					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.S819C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGCCATGTAGGATGGCACCAT	0.328																																						uc001msc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2455-2457)TCC>TGC		kinesin family member 18A							78.0	71.0	73.0					11																	28056982		2201	4299	6500	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28056982G>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2456C>G	11.37:g.28056982G>C	ENSP00000263181:p.Ser819Cys						p.S819C	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			15	2638	-			819					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.2456C>G	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784752	0.70222	.	.	ENSG00000121621	ENST00000263181	T	0.77358	-1.09	5.11	5.11	0.69529	.	0.060557	0.64402	D	0.000002	D	0.82563	0.5064	L	0.36672	1.1	0.50313	D	0.999862	D	0.89917	1.0	D	0.71184	0.972	D	0.84440	0.0582	10	0.87932	D	0	.	15.6191	0.76790	0.0:0.0:1.0:0.0	.	819	Q8NI77	KI18A_HUMAN	C	819	ENSP00000263181:S819C	ENSP00000263181:S819C	S	-	2	0	KIF18A	28013558	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.557000	0.67313	2.538000	0.85594	0.557000	0.71058	TCC		PASS	0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		24	74	24	74	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31086091	31086091	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:31086091A>G	ENST00000597505.1	-	18	2515	c.2516T>C	c.(2515-2517)cTt>cCt	p.L839P	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.L458P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CGTCTCCTCAAGAGAACCTTC	0.478																																						uc009yjk.1																			1	Substitution - Missense(1)		lung(1)								c.(859-861)CTT>CCT		RecName: Full=Doublecortin domain-containing protein 5;							144.0	140.0	141.0					11																	31086091		1883	4108	5991	SO:0001583	missense	0							g.chr11:31086091A>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2516T>C	11.37:g.31086091A>G	ENSP00000472625:p.Leu839Pro					uc009yjl.1_Missense_Mutation_p.L215P|DCDC1_uc001msu.1_Missense_Mutation_p.L458P	p.L287P							8	929	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.860T>C																																																																																					PASS	0.478	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		96	254	96	254	---	---	---	---
CHRM4	1132	broad.mit.edu	37	11	46406689	46406689	+	Silent	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:46406689C>T	ENST00000433765.2	-	1	1418	c.1419G>A	c.(1417-1419)cgG>cgA	p.R473R		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	473					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R473R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCCGATGTTCCGATACTGGC	0.602																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1417-1419)CGG>CGA		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						69.0	74.0	72.0					11																	46406689		2201	4299	6500	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46406689C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1419G>A	11.37:g.46406689C>T							p.R473R	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1419	-			473			Cytoplasmic (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.1419G>A	CCDS44581.1																																																																																				PASS	0.602	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		9	51	9	51	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49178342	49178342	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:49178342G>T	ENST00000256999.2	-	15	1810	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y	FOLH1_ENST00000356696.3_Missense_Mutation_p.S517Y|FOLH1_ENST00000340334.7_Missense_Mutation_p.S502Y|FOLH1_ENST00000343844.4_Missense_Mutation_p.S209Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.S502Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	517	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.S517Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATCATTTCCAGATCCCAATTT	0.333																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1549-1551)TCT>TAT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						56.0	59.0	58.0					11																	49178342		2198	4273	6471	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49178342G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1550C>A	11.37:g.49178342G>T	ENSP00000256999:p.Ser517Tyr					FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Missense_Mutation_p.S517Y|FOLH1_uc009yly.2_Missense_Mutation_p.S502Y|FOLH1_uc009ylz.2_Missense_Mutation_p.S502Y|FOLH1_uc009yma.2_Missense_Mutation_p.S209Y	p.S517Y	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			15	1811	-			517			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1550C>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467130	0.63625	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	3.78	3.78	0.43462	.	0.000000	0.56097	D	0.000027	T	0.68751	0.3035	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;P	0.79784	0.99;0.993;0.99;0.891	T	0.76854	-0.2805	10	0.87932	D	0	.	13.4691	0.61271	0.0:0.0:1.0:0.0	.	502;502;517;517	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Y	517;517;502;209;502;520	ENSP00000256999:S517Y;ENSP00000349129:S517Y;ENSP00000344131:S502Y;ENSP00000344086:S209Y;ENSP00000431463:S502Y	ENSP00000256999:S517Y	S	-	2	0	FOLH1	49134918	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	8.129000	0.89597	2.120000	0.65058	0.411000	0.27672	TCT		PASS	0.333	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		48	72	48	72	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411577	51411577	+	Silent	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:51411577G>C	ENST00000319760.6	-	1	871	c.819C>G	c.(817-819)acC>acG	p.T273T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T273T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTGTGATAATGGTATAAAACA	0.323																																						uc001nhi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(817-819)ACC>ACG		olfactory receptor, family 4, subfamily A,							47.0	47.0	47.0					11																	51411577		2201	4296	6497	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411577G>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.819C>G	11.37:g.51411577G>C							p.T273T	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	819	-		all_lung(304;0.236)	273			Helical; Name=7; (Potential).		Q6IF84	Silent	SNP	ENST00000319760.6	37	c.819C>G	CCDS31497.1																																																																																				PASS	0.323	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		11	61	11	61	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515751	51515751	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:51515751A>G	ENST00000328188.1	+	1	470	c.470A>G	c.(469-471)cAg>cGg	p.Q157R		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q157R(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCAACCATACAGATCCTCTTC	0.468																																						uc010ric.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)CAG>CGG		olfactory receptor, family 4, subfamily C,							122.0	116.0	118.0					11																	51515751		2201	4293	6494	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515751A>G		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.470A>G	11.37:g.51515751A>G	ENSP00000329056:p.Gln157Arg						p.Q157R	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	470	+			157			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.470A>G	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	7.918	0.737963	0.15574	.	.	ENSG00000185926	ENST00000328188	T	0.00115	8.71	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000581	T	0.00328	0.0010	M	0.72353	2.195	0.09310	N	1	D	0.67145	0.996	D	0.74674	0.984	T	0.43360	-0.9396	10	0.72032	D	0.01	.	4.8979	0.13760	0.7275:0.0:0.0:0.2725	.	157	A6NHA9	O4C46_HUMAN	R	157	ENSP00000329056:Q157R	ENSP00000329056:Q157R	Q	+	2	0	OR4C46	51372327	0.000000	0.05858	0.133000	0.22050	0.110000	0.19582	0.518000	0.22847	1.179000	0.42884	0.113000	0.15668	CAG		PASS	0.468	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		88	139	88	139	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55656477	55656477	+	Splice_Site	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:55656477G>T	ENST00000449290.2	+	5	853	c.761G>T	c.(760-762)aGg>aTg	p.R254M	TRIM51_ENST00000244891.3_Splice_Site_p.R111M	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	254						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R95M(2)|p.R254M(2)									ATATTACACAGGTGAGTGCAC	0.363																																						uc010rip.1																			4	Substitution - Missense(4)		lung(2)|central_nervous_system(2)		0						c.(760-762)AGG>ATG		SPRY domain containing 5							56.0	59.0	58.0					11																	55656477		2201	4296	6497	SO:0001630	splice_region_variant	84767					intracellular	zinc ion binding	g.chr11:55656477G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.761+1G>T	11.37:g.55656477G>T						SPRYD5_uc010riq.1_Missense_Mutation_p.R111M	p.R254M	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			5	853	+		all_epithelial(135;0.226)	254					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.761G>T		.	.	.	.	.	.	.	.	.	.	.	10.27	1.304659	0.23736	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.05382	3.45;3.45	0.698	0.698	0.18087	.	.	.	.	.	T	0.11239	0.0274	M	0.66939	2.045	0.09310	N	1	P	0.41597	0.756	P	0.47402	0.546	T	0.18335	-1.0340	9	0.87932	D	0	.	4.7964	0.13274	0.0:0.0:1.0:0.0	.	254	Q9BSJ1	SPRY5_HUMAN	M	254;111	ENSP00000395086:R254M;ENSP00000244891:R111M	ENSP00000244891:R111M	R	+	2	0	SPRYD5	55413053	0.040000	0.19996	0.008000	0.14137	0.010000	0.07245	0.219000	0.17641	0.712000	0.32039	0.373000	0.22412	AGG		PASS	0.363	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	Missense_Mutation	41	72	41	72	---	---	---	---
OR5M3	219482	broad.mit.edu	37	11	56237098	56237099	+	Missense_Mutation	DNP	GT	GT	TG			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:56237098_56237099GT>TG	ENST00000312240.2	-	1	915_916	c.875_876AC>CA	c.(874-876)aAC>aCA	p.N292T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N292T(2)|p.N292K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCACATCCTTGTTCCTCAGACT	0.391																																						uc010rjk.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(874-876)AAC>AAA|c.(874-876)AAC>ACC		olfactory receptor, family 5, subfamily M,																																				SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237098G>T|g.chr11:56237099T>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.875_876delinsTG	11.37:g.56237098_56237099delinsTG	ENSP00000312208:p.Asn292Thr						p.N292K|p.N292T	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	876|875	-	Esophageal squamous(21;0.00448)		292			Cytoplasmic (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.876C>A|c.875A>C	CCDS31532.1																																																																																				PASS	0.391	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		14	47	14	47	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58034498	58034498	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:58034498G>T	ENST00000395079.2	-	1	1234	c.833C>A	c.(832-834)cCa>cAa	p.P278Q		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P278Q(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				ATAGATAAGTGGGTTGAGCAG	0.537																																						uc001nmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)CCA>CAA		olfactory receptor, family 10, subfamily W,							108.0	100.0	103.0					11																	58034498		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034498G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.833C>A	11.37:g.58034498G>T	ENSP00000378516:p.Pro278Gln						p.P278Q	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	1235	-		Breast(21;0.0589)	278			Helical; Name=7; (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.833C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213885	0.79352	.	.	ENSG00000172772	ENST00000395079	T	0.64260	-0.09	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000131	D	0.84257	0.5432	M	0.92026	3.265	0.43103	D	0.994794	D	0.89917	1.0	D	0.87578	0.998	D	0.87701	0.2560	10	0.87932	D	0	.	19.0687	0.93123	0.0:0.0:1.0:0.0	.	278	Q8NGF6	O10W1_HUMAN	Q	278	ENSP00000378516:P278Q	ENSP00000378516:P278Q	P	-	2	0	OR10W1	57791074	1.000000	0.71417	0.931000	0.37212	0.881000	0.50899	6.364000	0.73086	2.612000	0.88384	0.655000	0.94253	CCA		PASS	0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		57	125	57	125	---	---	---	---
LPXN	9404	broad.mit.edu	37	11	58343234	58343234	+	Splice_Site	SNP	T	T	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:58343234T>G	ENST00000395074.2	-	1	100	c.12A>C	c.(10-12)ttA>ttC	p.L4F	LPXN_ENST00000528489.1_Intron|LPXN_ENST00000528954.1_Intron	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	4					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.L4F(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTCACTCACCTAACTCTTCCA	0.512																																						uc001nmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)TTA>TTC		leupaxin isoform 2							187.0	156.0	167.0					11																	58343234		2201	4295	6496	SO:0001630	splice_region_variant	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58343234T>G	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.13+1A>C	11.37:g.58343234T>G						LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Intron|LPXN_uc010rkk.1_Intron	p.L4F	NM_004811	NP_004802	O60711	LPXN_HUMAN			1	157	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	4			LD motif 1.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.12A>C	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109117	0.37242	.	.	ENSG00000110031	ENST00000395074	T	0.35236	1.32	5.18	3.31	0.37934	.	0.802103	0.10654	N	0.649584	T	0.57504	0.2058	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.52094	-0.8621	10	0.87932	D	0	.	7.3639	0.26762	0.0:0.7992:0.0:0.2008	.	4	O60711	LPXN_HUMAN	F	4	ENSP00000378512:L4F	ENSP00000378512:L4F	L	-	3	2	LPXN	58099810	0.981000	0.34729	0.995000	0.50966	0.580000	0.36256	0.393000	0.20817	0.748000	0.32831	-0.242000	0.12053	TTA		PASS	0.512	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811	Missense_Mutation	39	66	39	66	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59620686	59620686	+	Silent	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:59620686T>C	ENST00000257264.3	-	8	1334	c.1230A>G	c.(1228-1230)ccA>ccG	p.P410P	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	410	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.P410P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTGGCTCAGTGGTTCGCCTC	0.527																																						uc001noj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1228-1230)CCA>CCG		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						219.0	214.0	216.0					11																	59620686		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620686T>C	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1230A>G	11.37:g.59620686T>C							p.P410P	NM_001062	NP_001053	P20061	TCO1_HUMAN			8	1328	-		all_epithelial(135;0.198)	410					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.1230A>G	CCDS7978.1																																																																																				PASS	0.527	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		197	317	197	317	---	---	---	---
PRPF19	27339	broad.mit.edu	37	11	60671208	60671208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:60671208C>A	ENST00000227524.4	-	2	350	c.145G>T	c.(145-147)Gag>Tag	p.E49*		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.E49*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AGCTGCTCCTCGGAGAGAGGC	0.537																																						uc001nqf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(145-147)GAG>TAG		PRP19/PSO4 pre-mRNA processing factor 19							112.0	113.0	113.0					11																	60671208		2203	4299	6502	SO:0001587	stop_gained	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60671208C>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.145G>T	11.37:g.60671208C>A	ENSP00000227524:p.Glu49*						p.E49*	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			2	352	-			49			U-box.			Nonsense_Mutation	SNP	ENST00000227524.4	37	c.145G>T	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	38	6.648167	0.97734	.	.	ENSG00000110107	ENST00000227524;ENST00000541371	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-30.8669	17.4654	0.87631	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000227524:E49X	E	-	1	0	PRPF19	60427784	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	6.803000	0.75180	2.656000	0.90262	0.655000	0.94253	GAG		PASS	0.537	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		52	77	52	77	---	---	---	---
FADS3	3995	broad.mit.edu	37	11	61643866	61643866	+	Missense_Mutation	SNP	C	C	A	rs144242985		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:61643866C>A	ENST00000278829.2	-	9	1197	c.1045G>T	c.(1045-1047)Ggc>Tgc	p.G349C	FADS3_ENST00000525588.1_Missense_Mutation_p.G321C|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.G225C	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	349					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)	p.G349C(1)|p.G349S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTCTCGTGGCCGATCTCCTTG	0.652																																						uc001nsm.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(1)|pancreas(1)	2						c.(1045-1047)GGC>TGC		fatty acid desaturase 3							71.0	63.0	66.0					11																	61643866		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61643866C>A		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.1045G>T	11.37:g.61643866C>A	ENSP00000278829:p.Gly349Cys					FADS3_uc001nsn.2_Missense_Mutation_p.G225C	p.G349C	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			9	1198	-			349			Cytoplasmic (Potential).		O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.1045G>T	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.69|15.69	2.906973|2.906973	0.52333|0.52333	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000525588|ENST00000525094	T;T;T|.	0.17691|.	2.26;2.26;2.26|.	4.82|4.82	4.82|4.82	0.62117|0.62117	Fatty acid desaturase, type 1 (1);|.	.|.	.|.	.|.	.|.	T|T	0.73233|0.73233	0.3561|0.3561	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.69142|.	0.962;0.962|.	T|T	0.73151|0.73151	-0.4073|-0.4073	9|5	0.72032|.	D|.	0.01|.	-11.5026|-11.5026	16.8767|16.8767	0.86053|0.86053	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	225;349|.	E9PKP8;Q9Y5Q0|.	.;FADS3_HUMAN|.	C|L	225;349;321|23	ENSP00000431533:G225C;ENSP00000278829:G349C;ENSP00000432206:G321C|.	ENSP00000278829:G349C|.	G|R	-|-	1|2	0|0	FADS3|FADS3	61400442|61400442	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.005000|0.005000	0.04900|0.04900	6.983000|6.983000	0.76180|0.76180	2.409000|2.409000	0.81822|0.81822	0.655000|0.655000	0.94253|0.94253	GGC|CGG		PASS	0.652	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			48	94	48	94	---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64601086	64601086	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:64601086C>T	ENST00000342711.5	-	23	2610	c.2611G>A	c.(2611-2613)Ggt>Agt	p.G871S	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.G871S(1)		central_nervous_system(1)|lung(3)	4						GCAGGAAGACCTTCTGTAGAG	0.657																																						uc001obs.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(2611-2613)GGT>AGT		CDC42 binding protein kinase gamma (DMPK-like)							46.0	32.0	37.0					11																	64601086		2200	4297	6497	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64601086C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2611G>A	11.37:g.64601086C>T	ENSP00000345133:p.Gly871Ser						p.G871S	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			23	2611	-			871						Missense_Mutation	SNP	ENST00000342711.5	37	c.2611G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	6.087	0.384286	0.11524	.	.	ENSG00000171219	ENST00000342711	T	0.65549	-0.16	4.78	2.77	0.32553	.	1.015450	0.07894	N	0.971562	T	0.37073	0.0990	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24584	-1.0156	10	0.08837	T	0.75	.	6.7909	0.23699	0.0:0.7542:0.0:0.2458	.	871	Q6DT37	MRCKG_HUMAN	S	871	ENSP00000345133:G871S	ENSP00000345133:G871S	G	-	1	0	CDC42BPG	64357662	0.000000	0.05858	0.070000	0.20053	0.069000	0.16628	0.277000	0.18734	0.649000	0.30751	0.561000	0.74099	GGT		PASS	0.657	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		4	27	4	27	---	---	---	---
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ofr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)CGC>TGC		sorting nexin 6B		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104.0	104.0	104.0		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	824	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		PASS	0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		5	278	5	278	---	---	---	---
TSGA10IP	254187	broad.mit.edu	37	11	65721060	65721060	+	RNA	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:65721060C>A	ENST00000532620.1	+	0	1405				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R362R(1)		endometrium(2)|kidney(3)|lung(9)	14						GGCCTGGGAGCGGCAGCGGCA	0.697																																						uc001ogk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1174-1176)CGG>AGG		testis specific, 10 interacting protein							40.0	46.0	44.0					11																	65721060		1619	3582	5201			254187							g.chr11:65721060C>A	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65721060C>A						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA	p.R392R	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			7	1206	+			392			Potential.		Q3SXZ9|Q3SY01|Q96M26	Silent	SNP	ENST00000532620.1	37	c.1174C>A																																																																																					PASS	0.697	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		76	91	76	91	---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74651838	74651838	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:74651838G>A	ENST00000340360.6	-	3	417	c.86C>T	c.(85-87)cCg>cTg	p.P29L	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Missense_Mutation_p.P29L|XRRA1_ENST00000533598.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.P29L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACCTTCCTCCGGCACGCGAAG	0.502																																						uc009yub.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(85-87)CCG>CTG		X-ray radiation resistance associated 1							48.0	49.0	48.0					11																	74651838		2179	4286	6465	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74651838G>A	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.86C>T	11.37:g.74651838G>A	ENSP00000339918:p.Pro29Leu					XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Missense_Mutation_p.P29L|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron	p.P29L	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			3	418	-			29						Missense_Mutation	SNP	ENST00000340360.6	37	c.86C>T	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057549	0.19907	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.49432	0.78;0.79;0.94	5.28	3.23	0.37069	.	0.342236	0.21576	N	0.072329	T	0.36248	0.0960	M	0.63428	1.95	0.09310	N	0.999998	D;B	0.58268	0.982;0.022	B;B	0.35813	0.211;0.019	T	0.46373	-0.9196	10	0.72032	D	0.01	-10.602	6.1615	0.20366	0.1038:0.2464:0.6498:0.0	.	29;29	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	L	29	ENSP00000339918:P29L;ENSP00000435838:P29L;ENSP00000437334:P29L	ENSP00000339918:P29L	P	-	2	0	XRRA1	74329486	0.026000	0.19158	0.006000	0.13384	0.024000	0.10985	1.446000	0.35090	1.360000	0.45960	0.563000	0.77884	CCG		PASS	0.502	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		8	19	8	19	---	---	---	---
KCTD14	65987	broad.mit.edu	37	11	77727789	77727789	+	Silent	SNP	C	C	G	rs376094397		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:77727789C>G	ENST00000353172.5	-	2	662	c.618G>C	c.(616-618)gcG>gcC	p.A206A	KCTD14_ENST00000533144.1_Silent_p.A176A|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	206					protein homooligomerization (GO:0051260)			p.A206A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGTCTAGGACCGCCTTCCAGG	0.493																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	uc001oyw.3																			1	Substitution - coding silent(1)	p.A206V(1)	lung(1)	ovary(2)	2						c.(616-618)GCG>GCC		potassium channel tetramerisation domain		C	,,,	0,4400		0,0,2200	152.0	138.0	143.0		,,,618	-8.7	0.0	11		143	1,8583	1.2+/-3.3	0,1,4291	no	utr-3,utr-3,utr-3,coding-synonymous	KCTD14,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3	,,,	0,1,6491	GG,GC,CC		0.0116,0.0,0.0077	,,,	,,,206/256	77727789	1,12983	2200	4292	6492	SO:0001819	synonymous_variant	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77727789C>G	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.618G>C	11.37:g.77727789C>G							p.A206A	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	643	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		206					B2R9R8	Silent	SNP	ENST00000353172.5	37	c.618G>C	CCDS8255.2																																																																																				PASS	0.493	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		86	126	86	126	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106810465	106810466	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:106810465_106810466GG>TT	ENST00000526355.2	-	4	1394_1395	c.926_927CC>AA	c.(925-927)aCC>aAA	p.T309K	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.T309K|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.T309K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	309					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.T309N(1)|p.T309T(1)|p.T309K(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GAACTTGGGAGGTTCCCTGTGG	0.436																																						uc001pjg.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(925-927)ACC>ACA|c.(925-927)ACC>AAC		guanylate cyclase 1, soluble, alpha 2																																				SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810465G>T|g.chr11:106810466G>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.926_927delinsTT	11.37:g.106810465_106810466delinsTT	ENSP00000431245:p.Thr309Lys					GUCY1A2_uc010rvo.1_Silent_p.T309T|GUCY1A2_uc009yxn.1_Silent_p.T309T|GUCY1A2_uc010rvo.1_Missense_Mutation_p.T309N|GUCY1A2_uc009yxn.1_Missense_Mutation_p.T309N	p.T309T|p.T309N	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1317|1316	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	309					A1L4C4|B7ZLT5	Silent|Missense_Mutation	SNP	ENST00000526355.2	37	c.927C>A|c.926C>A	CCDS8335.1																																																																																				PASS	0.436	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			30|29	38	29	38	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118769595	118769595	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:118769595G>A	ENST00000334801.3	-	8	4993	c.4029C>T	c.(4027-4029)ccC>ccT	p.P1343P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1343	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.P1343P(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTCGCTCTTGGGGAAGTACT	0.612																																						uc001pug.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4027-4029)CCC>CCT		B-cell CLL/lymphoma 9-like							66.0	69.0	68.0					11																	118769595		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769595G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4029C>T	11.37:g.118769595G>A						BCL9L_uc009zal.2_Silent_p.P1338P	p.P1343P	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	4994	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1343			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.4029C>T	CCDS8403.1																																																																																				PASS	0.612	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		59	98	59	98	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121061508	121061508	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:121061508C>A	ENST00000392793.1	+	24	6732	c.6461C>A	c.(6460-6462)aCc>aAc	p.T2154N	TECTA_ENST00000264037.2_Missense_Mutation_p.T2154N			O75443	TECTA_HUMAN	tectorin alpha	2154					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T2154N(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCAGGCACGACCTCATAATTA	0.358																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(6460-6462)ACC>AAC		tectorin alpha precursor							80.0	74.0	76.0					11																	121061508		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121061508C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6461C>A	11.37:g.121061508C>A	ENSP00000376543:p.Thr2154Asn						p.T2154N	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	23	6461	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	2154						Missense_Mutation	SNP	ENST00000392793.1	37	c.6461C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513517	0.27123	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.37058	1.22;1.22	5.31	4.39	0.52855	.	0.188745	0.37437	N	0.002084	T	0.18002	0.0432	N	0.08118	0	0.26116	N	0.980612	B	0.33694	0.421	B	0.24974	0.057	T	0.09684	-1.0663	10	0.72032	D	0.01	.	10.7758	0.46348	0.1311:0.794:0.0:0.0748	.	2154	O75443	TECTA_HUMAN	N	2154	ENSP00000376543:T2154N;ENSP00000264037:T2154N	ENSP00000264037:T2154N	T	+	2	0	TECTA	120566718	0.999000	0.42202	0.865000	0.33974	0.763000	0.43281	1.096000	0.30976	0.632000	0.30432	-0.797000	0.03246	ACC		PASS	0.358	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		26	52	26	52	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128638130	128638130	+	Silent	SNP	C	C	T	rs376782867		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:128638130C>T	ENST00000527786.2	+	3	837	c.348C>T	c.(346-348)aaC>aaT	p.N116N	FLI1_ENST00000281428.8_Silent_p.N50N|FLI1_ENST00000344954.6_Silent_p.N83N|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.2_Silent_p.N83N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	116	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N116N(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CTCCTCCCAACATGACCACCA	0.597			T	EWSR1	Ewing sarcoma																																	uc010sbu.1				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	1	Substitution - coding silent(1)		lung(1)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(346-348)AAC>AAT		Friend leukemia virus integration 1							101.0	105.0	104.0					11																	128638130		2054	4181	6235	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128638130C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.348C>T	11.37:g.128638130C>T						FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Silent_p.N83N|FLI1_uc009zci.2_Silent_p.N50N|FLI1_uc001qen.2_Silent_p.N83N	p.N116N	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	3	689	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	116			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.348C>T	CCDS44768.1																																																																																				PASS	0.597	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		23	42	23	42	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132205014	132205014	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:132205014G>T	ENST00000374786.1	+	7	1488	c.1009G>T	c.(1009-1011)Gtc>Ttc	p.V337F	NTM_ENST00000539799.1_Missense_Mutation_p.V348F|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.V339F|NTM_ENST00000425719.2_Missense_Mutation_p.V348F|NTM_ENST00000374791.3_Missense_Mutation_p.V337F	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	337					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V337F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCCTCTTCTGGTCTTGCACCT	0.612																																						uc001qgp.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1009-1011)GTC>TTC		neurotrimin isoform 1							100.0	96.0	97.0					11																	132205014		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132205014G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.1009G>T	11.37:g.132205014G>T	ENSP00000363918:p.Val337Phe					NTM_uc001qgm.2_Missense_Mutation_p.V337F|NTM_uc010sch.1_Missense_Mutation_p.V339F|NTM_uc010sci.1_Missense_Mutation_p.V348F|NTM_uc010scj.1_Missense_Mutation_p.V296F|NTM_uc001qgq.2_Missense_Mutation_p.V348F|NTM_uc001qgr.2_Missense_Mutation_p.V119F	p.V337F	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			7	1673	+			337					A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.1009G>T	CCDS8491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.203|7.203	0.593840|0.593840	0.13875|0.13875	.|.	.|.	ENSG00000182667|ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719|ENST00000457381	T;T;T;T;T|.	0.61392|.	0.11;0.22;0.15;0.14;0.21|.	5.13|5.13	0.573|0.573	0.17363|0.17363	.|.	0.689464|.	0.14629|.	N|.	0.307923|.	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.08118|0.08118	0|0	0.27510|0.27510	N|N	0.951705|0.951705	B;B;B;B;B;B|.	0.06786|.	0.0;0.0;0.0;0.0;0.0;0.001|.	B;B;B;B;B;B|.	0.06405|.	0.002;0.0;0.0;0.0;0.0;0.002|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.33940|.	T|.	0.23|.	-4.534|-4.534	5.6929|5.6929	0.17839|0.17839	0.3623:0.1756:0.4621:0.0|0.3623:0.1756:0.4621:0.0	.|.	348;339;296;348;337;337|.	B7Z1Z5;B7Z1I4;B7Z1H3;Q9P121-4;Q9P121;Q9P121-2|.	.;.;.;.;NTRI_HUMAN;.|.	F|C	337;348;339;337;348|111	ENSP00000363923:V337F;ENSP00000437668:V348F;ENSP00000416320:V339F;ENSP00000363918:V337F;ENSP00000396722:V348F|.	ENSP00000363918:V337F|.	V|W	+|+	1|3	0|0	NTM|NTM	131710224|131710224	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.932000|0.932000	0.56968|0.56968	0.362000|0.362000	0.20284|0.20284	0.204000|0.204000	0.20548|0.20548	-0.142000|-0.142000	0.14014|0.14014	GTC|TGG		PASS	0.612	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		23	180	23	180	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134182735	134182735	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:134182735G>T	ENST00000431683.2	+	15	1454	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	485					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.G485V(1)|p.G146V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ACAATGATAGGGATTCTGAAT	0.517																																						uc009zdf.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1453-1455)GGG>GTG		galactosidase, beta 1 like 3							83.0	81.0	81.0					11																	134182735		1913	4128	6041	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134182735G>T		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1454G>T	11.37:g.134182735G>T	ENSP00000396615:p.Gly485Val					GLB1L3_uc001qho.3_RNA	p.G485V	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	15	1814	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	485					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1454G>T	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050561	0.55218	.	.	ENSG00000166105	ENST00000431683	D	0.95588	-3.75	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	H	0.96430	3.82	0.51482	D	0.999922	D	0.63880	0.993	D	0.67103	0.949	D	0.98380	1.0558	10	0.87932	D	0	.	12.951	0.58401	0.0:0.0:1.0:0.0	.	485	Q8NCI6	GLBL3_HUMAN	V	485	ENSP00000396615:G485V	ENSP00000396615:G485V	G	+	2	0	GLB1L3	133687945	0.999000	0.42202	0.311000	0.25182	0.004000	0.04260	4.565000	0.60836	2.761000	0.94854	0.655000	0.94253	GGG		PASS	0.517	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		11	16	11	16	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33560269	33560269	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr12:33560269G>A	ENST00000228567.3	-	3	828	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	178					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.L178L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGCCTCGGCAGGTGTCTTCGG	0.428																																						uc001rll.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(532-534)CTG>TTG		synaptotagmin X							120.0	111.0	114.0					12																	33560269		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33560269G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.532C>T	12.37:g.33560269G>A						SYT10_uc009zju.1_5'UTR	p.L178L	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			3	829	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		178			Cytoplasmic (Potential).		Q495U2	Silent	SNP	ENST00000228567.3	37	c.532C>T	CCDS8732.1																																																																																				PASS	0.428	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		6	170	6	170	---	---	---	---
VDR	7421	broad.mit.edu	37	12	48272874	48272874	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr12:48272874G>A	ENST00000395324.2	-	3	291	c.23C>T	c.(22-24)aCt>aTt	p.T8I	VDR_ENST00000535672.1_5'UTR|VDR_ENST00000549336.1_Missense_Mutation_p.T8I|VDR_ENST00000229022.3_Missense_Mutation_p.T8I|VDR_ENST00000550325.1_Missense_Mutation_p.T58I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	8					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|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 apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T8I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGGCAGGGAAGTGCTGGCCGC	0.607																																						uc001rqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(22-24)ACT>ATT		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						94.0	78.0	84.0					12																	48272874		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48272874G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.23C>T	12.37:g.48272874G>A	ENSP00000378734:p.Thr8Ile					VDR_uc001rql.2_Missense_Mutation_p.T58I|VDR_uc001rqn.2_Missense_Mutation_p.T8I|VDR_uc010slq.1_5'UTR	p.T8I	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	4	305	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	8					B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.23C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347767	0.61183	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.94280	-3.26;-3.26;-3.26;-3.32;-2.85;-3.39;-3.24	5.58	4.69	0.59074	.	0.616955	0.16325	N	0.219395	D	0.95023	0.8389	M	0.63843	1.955	0.42019	D	0.990972	B;D	0.63880	0.415;0.993	B;P	0.59221	0.147;0.854	D	0.94473	0.7686	10	0.59425	D	0.04	.	13.3629	0.60667	0.0765:0.0:0.9235:0.0	.	8;58	P11473;G3V1V9	VDR_HUMAN;.	I	8;8;8;58;8;8;8	ENSP00000378734:T8I;ENSP00000229022:T8I;ENSP00000449573:T8I;ENSP00000447173:T58I;ENSP00000448659:T8I;ENSP00000449561:T8I;ENSP00000450105:T8I	ENSP00000229022:T8I	T	-	2	0	VDR	46559141	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	9.568000	0.98166	1.363000	0.46019	-0.150000	0.13652	ACT		PASS	0.607	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			33	65	33	65	---	---	---	---
PMEL	6490	broad.mit.edu	37	12	56351335	56351335	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr12:56351335A>T	ENST00000548747.1	-	6	1414	c.752T>A	c.(751-753)cTg>cAg	p.L251Q	PMEL_ENST00000360714.4_Missense_Mutation_p.L251Q|PMEL_ENST00000536427.1_Missense_Mutation_p.L251Q|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000539511.1_Missense_Mutation_p.L165Q|PMEL_ENST00000552882.1_Missense_Mutation_p.L251Q|PMEL_ENST00000449260.2_Missense_Mutation_p.L251Q|PMEL_ENST00000550464.1_Missense_Mutation_p.L165Q|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000548493.1_Missense_Mutation_p.L251Q			P40967	PMEL_HUMAN	premelanosome protein	251					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.L251Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTTCAGCCAGATAGCCACT	0.567																																						uc001sip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(751-753)CTG>CAG		silver homolog							115.0	117.0	116.0					12																	56351335		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351335A>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.752T>A	12.37:g.56351335A>T	ENSP00000448828:p.Leu251Gln					SILV_uc001siq.2_Missense_Mutation_p.L251Q|SILV_uc010spx.1_Missense_Mutation_p.L165Q|SILV_uc001sir.2_Missense_Mutation_p.L251Q	p.L251Q	NM_006928	NP_008859	P40967	PMEL_HUMAN			6	783	-			251					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.752T>A	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648265	0.87958	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000547137;ENST00000546543	T;T;T;T;T;T;T;T;T;T	0.27256	2.2;1.92;2.03;1.92;1.92;2.2;1.68;2.03;1.86;2.52	5.6	5.6	0.85130	PKD/Chitinase domain (1);PKD domain (2);	0.000000	0.47852	D	0.000216	T	0.56108	0.1963	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.63251	-0.6679	10	0.87932	D	0	-5.3933	15.0788	0.72099	1.0:0.0:0.0:0.0	.	165;251;251	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	Q	251;251;165;251;251;251;251;165;197;202	ENSP00000402758:L251Q;ENSP00000449690:L251Q;ENSP00000450036:L165Q;ENSP00000448828:L251Q;ENSP00000447374:L251Q;ENSP00000353940:L251Q;ENSP00000438695:L251Q;ENSP00000445005:L165Q;ENSP00000448849:L197Q;ENSP00000446662:L202Q	ENSP00000353940:L251Q	L	-	2	0	PMEL	54637602	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.953000	0.93041	2.257000	0.74773	0.533000	0.62120	CTG		PASS	0.567	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		94	137	94	137	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758149	113758149	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr12:113758149C>A	ENST00000552014.1	-	8	1196	c.681G>T	c.(679-681)ctG>ctT	p.L227L	SLC8B1_ENST00000202831.3_Silent_p.L227L|SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	227					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.L227L(1)									GAGCCCATGCCAGGGTGACCC	0.612																																						uc001tvc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(679-681)CTG>CTT		solute carrier family 24 member 6 precursor							115.0	116.0	115.0					12																	113758149		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758149C>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.681G>T	12.37:g.113758149C>A						SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Intron	p.L227L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			7	891	-			227			Helical; Name=5; (Potential).		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.681G>T	CCDS31909.1																																																																																				PASS	0.612	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		115	186	115	186	---	---	---	---
RFC5	5985	broad.mit.edu	37	12	118465787	118465787	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr12:118465787T>A	ENST00000454402.2	+	9	941	c.823T>A	c.(823-825)Ttg>Atg	p.L275M	RFC5_ENST00000229043.3_Missense_Mutation_p.L190M|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000392542.2_Missense_Mutation_p.L254M	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	275					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.L275M(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGAAGGGGTTGGCACTGCA	0.428																																						uc001twq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)TTG>ATG		replication factor C 5 isoform 1							122.0	116.0	118.0					12																	118465787		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118465787T>A		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.823T>A	12.37:g.118465787T>A	ENSP00000408295:p.Leu275Met					RFC5_uc010syx.1_Missense_Mutation_p.L254M|RFC5_uc010syy.1_Missense_Mutation_p.L254M|RFC5_uc010syz.1_Missense_Mutation_p.L190M|RFC5_uc009zwr.2_Missense_Mutation_p.L272M	p.L275M	NM_007370	NP_031396	P40937	RFC5_HUMAN			9	948	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		275					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.823T>A	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654742	0.67472	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.47869	0.83;0.83;0.83	5.25	-1.04	0.10068	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.64800	0.2631	M	0.92649	3.33	0.43476	D	0.995694	P;P;P	0.45957	0.699;0.869;0.869	P;P;P	0.53861	0.614;0.736;0.69	T	0.69359	-0.5166	10	0.46703	T	0.11	-18.9498	10.9714	0.47441	0.0:0.5356:0.0:0.4644	.	254;286;275	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	M	190;275;254	ENSP00000229043:L190M;ENSP00000408295:L275M;ENSP00000376325:L254M	ENSP00000229043:L190M	L	+	1	2	RFC5	116950170	0.000000	0.05858	0.815000	0.32552	0.979000	0.70002	-0.391000	0.07323	-0.074000	0.12820	0.460000	0.39030	TTG		PASS	0.428	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		71	100	71	100	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26145830	26145830	+	Splice_Site	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:26145830G>A	ENST00000381655.2	+	18	1804	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Splice_Site_p.A514A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	514					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A554A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCATAGAAGCGGTGAGTAACA	0.423																																						uc001uqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1660-1662)GCG>GCA		ATPase, aminophospholipid transporter-like,							133.0	129.0	131.0					13																	26145830		1953	4144	6097	SO:0001630	splice_region_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26145830G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1662+1G>A	13.37:g.26145830G>A						ATP8A2_uc010tdi.1_Silent_p.A514A|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.A64A|ATP8A2_uc001uql.1_Silent_p.A514A	p.A554A	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	18	1804	+		Breast(139;0.0201)|Lung SC(185;0.0225)	514			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.1662G>A	CCDS41873.1																																																																																				PASS	0.423	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	Silent	83	118	83	118	---	---	---	---
CDX2	1045	broad.mit.edu	37	13	28542705	28542705	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:28542705G>T	ENST00000381020.7	-	1	2571	c.439C>A	c.(439-441)Ccc>Acc	p.P147T	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	147					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P147T(1)		endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GTGGCGGCGGGCCCAGGAGGG	0.746			T	ETV6	AML																																	uc001urv.2				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(439-441)CCC>ACC		caudal type homeobox 2							9.0	12.0	11.0					13																	28542705		2134	4132	6266	SO:0001583	missense	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28542705G>T	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.439C>A	13.37:g.28542705G>T	ENSP00000370408:p.Pro147Thr						p.P147T	NM_001265	NP_001256	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	1	613	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	147					O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	c.439C>A	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	g	6.950	0.545045	0.13312	.	.	ENSG00000165556	ENST00000381020	T	0.46451	0.87	3.93	3.07	0.35406	Caudal-like activation domain (1);	0.409541	0.20799	N	0.085469	T	0.28001	0.0690	N	0.14661	0.345	0.28127	N	0.93036	B	0.31769	0.339	B	0.37198	0.243	T	0.19712	-1.0297	10	0.30078	T	0.28	-23.77	11.5247	0.50573	0.0:0.4554:0.5446:0.0	.	147	Q99626	CDX2_HUMAN	T	147	ENSP00000370408:P147T	ENSP00000370408:P147T	P	-	1	0	CDX2	27440705	0.239000	0.23836	0.516000	0.27786	0.054000	0.15201	1.008000	0.29872	1.227000	0.43598	0.457000	0.33378	CCC		PASS	0.746	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			15	16	15	16	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608124	28608124	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:28608124C>A	ENST00000241453.7	-	15	1923	c.1842G>T	c.(1840-1842)aaG>aaT	p.K614N	FLT3_ENST00000537084.1_Missense_Mutation_p.K614N|FLT3_ENST00000380982.4_Missense_Mutation_p.K614N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K614N(1)|p.K614K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCTAGTACCTTCCCTGCAA	0.403			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G613_K614ins17(2)|p.G613_K614ins16(2)|p.G613_K614ins28(1)|p.K614K(1)|p.K614_V615ins15(1)|p.G613_K614ins22(1)|p.G613_K614ins23(1)|p.G613_K614ins15(1)|p.G613_K614ins33(1)|p.K614_V615ins35(1)|p.K614_V615ins36(1)|p.K614_V615ins30(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(1840-1842)AAG>AAT		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						235.0	216.0	223.0					13																	28608124		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608124C>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1842G>T	13.37:g.28608124C>A	ENSP00000241453:p.Lys614Asn					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.K614N	p.K614N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1924	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	614			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1842G>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775857	0.31411	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89415	-2.51;-2.51;-2.51	5.93	4.2	0.49525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.170289	0.42053	D	0.000764	D	0.82953	0.5149	L	0.39514	1.22	0.42644	D	0.99342	B;B	0.13594	0.008;0.008	B;B	0.13407	0.007;0.009	T	0.80074	-0.1534	10	0.72032	D	0.01	.	8.4861	0.33071	0.0:0.721:0.0:0.279	.	614;614	P36888-2;P36888	.;FLT3_HUMAN	N	614	ENSP00000241453:K614N;ENSP00000370369:K614N;ENSP00000438139:K614N	ENSP00000241453:K614N	K	-	3	2	FLT3	27506124	0.357000	0.24938	1.000000	0.80357	0.858000	0.48976	-0.482000	0.06544	1.516000	0.48900	0.655000	0.94253	AAG		PASS	0.403	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			116	170	116	170	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29041090	29041090	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:29041090G>C	ENST00000282397.4	-	3	589	c.338C>G	c.(337-339)cCt>cGt	p.P113R	FLT1_ENST00000541932.1_Missense_Mutation_p.P113R|FLT1_ENST00000539099.1_Missense_Mutation_p.P113R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	113	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.P113R(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTGAAGTAGGTACAGCTAG	0.378																																						uc001usb.3																			2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(337-339)CCT>CGT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						156.0	148.0	150.0					13																	29041090		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29041090G>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.338C>G	13.37:g.29041090G>C	ENSP00000282397:p.Pro113Arg					FLT1_uc010aar.1_Missense_Mutation_p.P113R|FLT1_uc001usc.3_Missense_Mutation_p.P113R|FLT1_uc010tdp.1_Missense_Mutation_p.P113R|FLT1_uc001usd.2_Missense_Mutation_p.P113R	p.P113R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	3	623	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	113			Ig-like C2-type 1.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.338C>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424530	0.43020	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.74315	-0.83;-0.23;-0.15	5.81	4.97	0.65823	Immunoglobulin subtype (1);	0.281175	0.31312	N	0.007867	T	0.80899	0.4712	M	0.73962	2.25	0.09310	N	1	P;P;P;P;P	0.50443	0.935;0.935;0.843;0.935;0.845	P;P;P;P;B	0.54431	0.51;0.51;0.752;0.51;0.439	T	0.73421	-0.3988	10	0.38643	T	0.18	.	12.3481	0.55132	0.0797:0.0:0.9203:0.0	.	113;113;113;113;113	P17948-4;P17948-3;B5A924;P17948-2;P17948	.;.;.;.;VGFR1_HUMAN	R	113	ENSP00000282397:P113R;ENSP00000437631:P113R;ENSP00000442630:P113R	ENSP00000282397:P113R	P	-	2	0	FLT1	27939090	0.040000	0.19996	0.006000	0.13384	0.916000	0.54674	2.204000	0.42761	1.458000	0.47871	0.650000	0.86243	CCT		PASS	0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			57	78	57	78	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39448720	39448720	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:39448720C>G	ENST00000280481.7	+	18	8494	c.8278C>G	c.(8278-8280)Ccc>Gcc	p.P2760A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2760					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2760A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTGTCACATCCCGGTAAGCC	0.488																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(8278-8280)CCC>GCC		FRAS1-related extracellular matrix protein 2							178.0	143.0	155.0					13																	39448720		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39448720C>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8278C>G	13.37:g.39448720C>G	ENSP00000280481:p.Pro2760Ala						p.P2760A	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	18	8587	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2760			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8278C>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518817	0.27211	.	.	ENSG00000150893	ENST00000280481	T	0.18810	2.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.80028	2.48	0.50467	D	0.999877	B	0.30146	0.27	B	0.29353	0.101	T	0.04090	-1.0978	10	0.38643	T	0.18	.	12.5828	0.56399	0.0:0.9242:0.0:0.0758	.	2760	Q5SZK8	FREM2_HUMAN	A	2760	ENSP00000280481:P2760A	ENSP00000280481:P2760A	P	+	1	0	FREM2	38346720	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	1.641000	0.37197	2.548000	0.85928	0.655000	0.94253	CCC		PASS	0.488	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		44	97	44	97	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46733098	46733098	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:46733098A>T	ENST00000398576.2	-	6	479	c.91T>A	c.(91-93)Ttc>Atc	p.F31I	LCP1_ENST00000323076.2_Missense_Mutation_p.F31I|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.F31I(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AACTCATTGAAGCTGATGTAT	0.433			T	BCL6	NHL																																	uc001vaz.3				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)	7						c.(91-93)TTC>ATC		L-plastin							143.0	130.0	135.0					13																	46733098		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733098A>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.91T>A	13.37:g.46733098A>T	ENSP00000381581:p.Phe31Ile					LCP1_uc001vba.3_Missense_Mutation_p.F31I	p.F31I	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	3	217	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	31			1 (By similarity).|EF-hand 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.91T>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336844	0.24253	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.76	3.23	0.37069	EF-hand-like domain (1);	0.427763	0.30252	N	0.010056	T	0.42223	0.1193	N	0.04768	-0.165	0.80722	D	1	B	0.06786	0.001	B	0.19148	0.024	T	0.11372	-1.0590	10	0.28530	T	0.3	-3.5486	2.0751	0.03623	0.417:0.2614:0.07:0.2515	.	31	P13796	PLSL_HUMAN	I	31	ENSP00000315757:F31I;ENSP00000381581:F31I;ENSP00000408052:F31I;ENSP00000402157:F31I	ENSP00000315757:F31I	F	-	1	0	LCP1	45631099	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	1.392000	0.34486	0.486000	0.27676	0.533000	0.62120	TTC		PASS	0.433	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		91	127	91	127	---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49772213	49772213	+	Silent	SNP	A	A	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:49772213A>C	ENST00000492622.2	+	22	2891	c.2586A>C	c.(2584-2586)atA>atC	p.I862I	FNDC3A_ENST00000541916.1_Silent_p.I862I|FNDC3A_ENST00000398316.3_Silent_p.I806I	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	862	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.I862I(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTCAAGAAATAAGCGATGATG	0.463																																						uc001vcm.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(2584-2586)ATA>ATC		fibronectin type III domain containing 3A							124.0	115.0	118.0					13																	49772213		2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49772213A>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2586A>C	13.37:g.49772213A>C						FNDC3A_uc001vcn.2_Silent_p.I862I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Silent_p.I806I	p.I862I	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	2891	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	862			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.2586A>C	CCDS41886.1																																																																																				PASS	0.463	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		5	139	5	139	---	---	---	---
HNRNPA1L2	144983	broad.mit.edu	37	13	53217180	53217180	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:53217180G>C	ENST00000357495.2	+	1	613	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.E185Q|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.E185Q			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	185	Globular B domain.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E185Q(1)		cervix(1)|large_intestine(1)|lung(5)	7						GCCAAAGCAAGAGATGGCTAG	0.483																																						uc001vgx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)GAG>CAG		heterogeneous nuclear ribonucleoprotein A1-like							49.0	48.0	48.0					13																	53217180		2107	4046	6153	SO:0001583	missense	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217180G>C		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.553G>C	13.37:g.53217180G>C	ENSP00000350090:p.Glu185Gln					HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.E185Q|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.E185Q	p.E185Q	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN			7	1626	+			185			Globular B domain.		Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	c.553G>C	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	16.73	3.204450	0.58234	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.90788	-2.73;-2.73;-2.73	0.352	0.352	0.16051	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.42964	U	0.000633	D	0.95023	0.8389	M	0.94101	3.495	0.33067	D	0.534888	D	0.76494	0.999	D	0.72625	0.978	D	0.93353	0.6720	10	0.87932	D	0	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	185	Q32P51	RA1L2_HUMAN	Q	185	ENSP00000341285:E185Q;ENSP00000381119:E185Q;ENSP00000350090:E185Q	ENSP00000341285:E185Q	E	+	1	0	HNRNPA1L2	52115181	1.000000	0.71417	0.347000	0.25668	0.258000	0.26162	6.450000	0.73477	0.455000	0.26910	0.089000	0.15464	GAG		PASS	0.483	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		3	99	3	99	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111138064	111138064	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:111138064G>T	ENST00000360467.5	+	34	3394	c.3088G>T	c.(3088-3090)Ggc>Tgc	p.G1030C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1030	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1030C(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGAGGCCCGGCCACATCAA	0.622																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(3088-3090)GGC>TGC		alpha 2 type IV collagen preproprotein							47.0	54.0	52.0					13																	111138064		1889	4107	5996	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111138064G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3088G>T	13.37:g.111138064G>T	ENSP00000353654:p.Gly1030Cys						p.G1030C	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		34	3377	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1030			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3088G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395908	0.42512	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99369	-5.78	5.11	4.25	0.50352	.	0.134220	0.36740	N	0.002435	D	0.99600	0.9855	H	0.98276	4.19	0.30885	N	0.730984	D	0.89917	1.0	D	0.80764	0.994	D	0.96590	0.9437	10	0.87932	D	0	.	10.1582	0.42836	0.0935:0.0:0.9065:0.0	.	1030	P08572	CO4A2_HUMAN	C	1030	ENSP00000353654:G1030C	ENSP00000257309:G1030C	G	+	1	0	COL4A2	109936065	0.814000	0.29104	0.732000	0.30844	0.779000	0.44077	1.391000	0.34475	2.365000	0.80145	0.563000	0.77884	GGC		PASS	0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		49	87	49	87	---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111926211	111926211	+	Missense_Mutation	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:111926211T>C	ENST00000375741.2	+	11	1437	c.1187T>C	c.(1186-1188)aTt>aCt	p.I396T	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.I346T|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.I218T|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.I293T|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.I140T|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.I303T|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.I218T|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.I218T|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.I375T|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.I218T	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	396	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I375T(1)|p.I218T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCCCTGGGATTCTCGTGCTG	0.552																																						uc001vrs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1186-1188)ATT>ACT		PAK-interacting exchange factor beta isoform c							109.0	98.0	101.0					13																	111926211		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111926211T>C	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1187T>C	13.37:g.111926211T>C	ENSP00000364893:p.Ile396Thr					ARHGEF7_uc001vrr.2_Missense_Mutation_p.I375T|ARHGEF7_uc001vrt.2_Missense_Mutation_p.I346T|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Missense_Mutation_p.I218T|ARHGEF7_uc001vrv.3_Missense_Mutation_p.I218T|ARHGEF7_uc001vrw.3_Missense_Mutation_p.I218T|ARHGEF7_uc001vrx.3_Missense_Mutation_p.I218T|ARHGEF7_uc010tjo.1_Missense_Mutation_p.I293T|ARHGEF7_uc010tjp.1_Missense_Mutation_p.I140T|ARHGEF7_uc010agn.1_Missense_Mutation_p.I140T	p.I396T	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		11	1437	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		396			DH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.1187T>C	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722431	0.89298	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.17	5.17	0.71159	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.64676	1.99	0.80722	D	1	B;P;B;P;P;D	0.59767	0.023;0.943;0.023;0.673;0.902;0.986	B;D;B;P;D;D	0.70716	0.303;0.938;0.303;0.708;0.938;0.97	T	0.78112	-0.2331	10	0.59425	D	0.04	.	15.0152	0.71578	0.0:0.0:0.0:1.0	.	140;293;140;346;396;375	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	T	375;396;346;303;373;218;218;218;218;293;218;140	ENSP00000325994:I375T;ENSP00000364893:I396T;ENSP00000364891:I346T;ENSP00000359657:I303T;ENSP00000418067:I218T;ENSP00000218789:I218T;ENSP00000364888:I218T;ENSP00000397068:I218T;ENSP00000364889:I293T;ENSP00000364875:I218T;ENSP00000417596:I140T	ENSP00000218789:I218T	I	+	2	0	ARHGEF7	110724212	1.000000	0.71417	0.556000	0.28293	0.953000	0.61014	4.665000	0.61547	1.942000	0.56320	0.477000	0.44152	ATT		PASS	0.552	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		55	80	55	80	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113473630	113473630	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:113473630G>A	ENST00000487903.1	+	7	671	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	ATP11A_ENST00000375645.3_Missense_Mutation_p.V195I|ATP11A_ENST00000375630.2_Missense_Mutation_p.V195I|ATP11A_ENST00000283558.8_Missense_Mutation_p.V195I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	195					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V195I(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCATTACGCGGTCCAGGACAC	0.557																																						uc001vsi.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(583-585)GTC>ATC		ATPase, class VI, type 11A isoform a							119.0	106.0	110.0					13																	113473630		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113473630G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.583G>A	13.37:g.113473630G>A	ENSP00000420387:p.Val195Ile					ATP11A_uc001vsj.3_Missense_Mutation_p.V195I|ATP11A_uc001vsm.1_Missense_Mutation_p.V71I	p.V195I	NM_015205	NP_056020	P98196	AT11A_HUMAN			7	671	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	195			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.583G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647738	0.29336	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.54	4.69	0.59074	ATPase, P-type, ATPase-associated domain (1);	0.120382	0.56097	N	0.000029	D	0.85995	0.5827	L	0.45422	1.42	0.46901	D	0.999242	B;B;B	0.18013	0.025;0.001;0.0	B;B;B	0.23275	0.045;0.02;0.005	T	0.80982	-0.1139	10	0.34782	T	0.22	.	10.3666	0.44028	0.1487:0.0:0.8513:0.0	.	195;195;195	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	I	195	ENSP00000420387:V195I;ENSP00000364781:V195I;ENSP00000364796:V195I;ENSP00000283558:V195I	ENSP00000283558:V195I	V	+	1	0	ATP11A	112521631	1.000000	0.71417	0.756000	0.31282	0.127000	0.20565	4.421000	0.59848	1.335000	0.45486	0.655000	0.94253	GTC		PASS	0.557	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		55	90	55	90	---	---	---	---
F7	2155	broad.mit.edu	37	13	113773306	113773306	+	Missense_Mutation	SNP	G	G	C	rs372452455		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr13:113773306G>C	ENST00000375581.3	+	9	1420	c.1385G>C	c.(1384-1386)cGa>cCa	p.R462P	F7_ENST00000541084.1_Missense_Mutation_p.R393P|F7_ENST00000346342.3_Missense_Mutation_p.R440P	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	462					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R462P(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCCTCCTGCGAGCCCCATTT	0.587																																						uc001vsv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1384-1386)CGA>CCA		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						23.0	23.0	23.0					13																	113773306		2184	4252	6436	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113773306G>C		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1385G>C	13.37:g.113773306G>C	ENSP00000364731:p.Arg462Pro					F7_uc001vsw.2_Missense_Mutation_p.R440P|F7_uc010tjt.1_Missense_Mutation_p.R393P	p.R462P	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1436	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	462					B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1385G>C	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306519	0.40795	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.91945	-2.93;-2.8;-2.94	3.55	0.83	0.18854	.	1.150060	0.06554	N	0.745485	D	0.84520	0.5490	N	0.22421	0.69	0.09310	N	1	B;B;B	0.25719	0.132;0.132;0.081	B;B;B	0.19666	0.026;0.026;0.011	T	0.72988	-0.4124	10	0.62326	D	0.03	.	4.4868	0.11794	0.2108:0.358:0.4311:0.0	.	393;440;462	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	P	440;393;462	ENSP00000329546:R440P;ENSP00000442051:R393P;ENSP00000364731:R462P	ENSP00000329546:R440P	R	+	2	0	F7	112821307	0.087000	0.21565	0.000000	0.03702	0.004000	0.04260	0.082000	0.14847	0.138000	0.18790	0.467000	0.42956	CGA		PASS	0.587	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		35	52	35	52	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553635	19553635	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr14:19553635G>A	ENST00000409832.3	+	1	271	c.219G>A	c.(217-219)agG>agA	p.R73R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	73								p.R73R(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTGGTGCAGGGGGAGCAGCA	0.582																																						uc001vuz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(217-219)AGG>AGA		POTE ankyrin domain family, member G							137.0	181.0	167.0					14																	19553635		2046	4129	6175	SO:0001819	synonymous_variant	404785							g.chr14:19553635G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.219G>A	14.37:g.19553635G>A						POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.R73R	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	271	+			73					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.219G>A	CCDS32018.1																																																																																				PASS	0.582	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		181	215	181	215	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295985	20295985	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr14:20295985C>G	ENST00000315947.1	+	1	378	c.378C>G	c.(376-378)atC>atG	p.I126M	OR4N2_ENST00000568211.1_Missense_Mutation_p.I126M	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACATCGCCATCTGCCGGCCTC	0.522																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(376-378)ATC>ATG		olfactory receptor, family 4, subfamily N,							176.0	189.0	184.0					14																	20295985		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295985C>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.378C>G	14.37:g.20295985C>G	ENSP00000319601:p.Ile126Met						p.I126M	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	378	+	all_cancers(95;0.00108)		126			Cytoplasmic (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.378C>G	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	16.07	3.017809	0.54576	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	D;T	0.81908	-1.55;0.29	4.53	-0.572	0.11745	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	D	0.92024	0.7473	H	0.98866	4.355	0.25205	N	0.990026	D	0.71674	0.998	D	0.63033	0.91	T	0.83289	-0.0034	10	0.72032	D	0.01	-20.3627	5.3447	0.16002	0.4483:0.4272:0.0:0.1245	.	126	Q8NGD1	OR4N2_HUMAN	M	126	ENSP00000452022:I126M;ENSP00000319601:I126M	ENSP00000319601:I126M	I	+	3	3	OR4N2	19365825	0.071000	0.21146	0.999000	0.59377	0.992000	0.81027	-0.919000	0.04017	0.073000	0.16731	0.591000	0.81541	ATC		PASS	0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			40	216	40	216	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404636	20404636	+	Missense_Mutation	SNP	C	C	T	rs543752160	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr14:20404636C>T	ENST00000285600.4	+	1	870	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L271F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGACAAATTTCTTTCTGTGTT	0.418													C|||	2	0.000399361	0.0	0.0	5008	,	,		25082	0.002		0.0	False		,,,				2504	0.0					uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(811-813)CTT>TTT		olfactory receptor, family 4, subfamily K,							120.0	128.0	125.0					14																	20404636		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404636C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.811C>T	14.37:g.20404636C>T	ENSP00000285600:p.Leu271Phe						p.L271F	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	811	+	all_cancers(95;0.00108)		271			Helical; Name=7; (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.811C>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	9.842	1.191360	0.21954	.	.	ENSG00000155249	ENST00000285600	T	0.38401	1.14	5.09	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.41926	0.1180	L	0.60455	1.87	0.21802	N	0.999536	P	0.35872	0.525	P	0.46585	0.521	T	0.33240	-0.9876	10	0.59425	D	0.04	.	7.8763	0.29595	0.3294:0.5111:0.1595:0.0	.	271	Q8NGD4	OR4K1_HUMAN	F	271	ENSP00000285600:L271F	ENSP00000285600:L271F	L	+	1	0	OR4K1	19474476	0.000000	0.05858	0.998000	0.56505	0.245000	0.25701	-0.094000	0.11094	0.684000	0.31448	0.655000	0.94253	CTT		PASS	0.418	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			84	96	84	96	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89192897	89192897	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr14:89192897A>G	ENST00000380664.5	-	8	1174	c.1175T>C	c.(1174-1176)gTa>gCa	p.V392A	EML5_ENST00000352093.5_Missense_Mutation_p.V392A|EML5_ENST00000554922.1_Missense_Mutation_p.V392A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	392						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.V392A(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TACTCTAAGTACAGTGAATGA	0.353																																						uc001xxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1174-1176)GTA>GCA		echinoderm microtubule associated protein like							101.0	89.0	93.0					14																	89192897		1898	4121	6019	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89192897A>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1175T>C	14.37:g.89192897A>G	ENSP00000370039:p.Val392Ala						p.V392A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			9	1361	-			392					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.1175T>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607498	0.87157	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.20881	2.04;2.04;4.76	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.48077	0.1480	M	0.76838	2.35	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.50180	-0.8858	10	0.56958	D	0.05	-18.1701	15.3995	0.74827	1.0:0.0:0.0:0.0	.	392	Q05BV3	EMAL5_HUMAN	A	392	ENSP00000451998:V392A;ENSP00000298315:V392A;ENSP00000370039:V392A	ENSP00000298315:V392A	V	-	2	0	EML5	88262650	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.761000	0.91691	2.225000	0.72522	0.459000	0.35465	GTA		PASS	0.353	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			11	21	11	21	---	---	---	---
TCL1A	8115	broad.mit.edu	37	14	96178685	96178685	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr14:96178685C>T	ENST00000402399.1	-	2	298	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	TCL1A_ENST00000554012.1_Missense_Mutation_p.V57I|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.V57I|TCL1A_ENST00000555202.1_Missense_Mutation_p.V57I|RP11-164H13.1_ENST00000553445.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	57					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)		p.V57I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTCCCCAGGACGACGTCTTCC	0.562			T	TRA@	T-CLL																																Ovarian(96;1068 2019 35393 39316)	uc001yfc.3				Dom	yes		14	14q32.1	8115	T	T-cell leukemia/lymphoma 1A			L	TRA@		T-CLL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(169-171)GTC>ATC		T-cell leukemia/lymphoma 1A							87.0	89.0	88.0					14																	96178685		2203	4300	6503	SO:0001583	missense	8115				multicellular organismal development	endoplasmic reticulum|microsome		g.chr14:96178685C>T	X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.169G>A	14.37:g.96178685C>T	ENSP00000385036:p.Val57Ile					TCL1A_uc001yfb.3_Missense_Mutation_p.V57I	p.V57I	NM_001098725	NP_001092195	P56279	TCL1A_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	299	-		all_cancers(154;0.103)	57					Q6IBK7	Missense_Mutation	SNP	ENST00000402399.1	37	c.169G>A	CCDS9941.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.981|5.981	0.364943|0.364943	0.11296|0.11296	.|.	.|.	ENSG00000100721|ENSG00000100721	ENST00000557043|ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202	.|T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59	3.61|3.61	-3.42|-3.42	0.04825|0.04825	.|.	.|1.119670	.|0.06731	.|N	.|0.776656	T|T	0.07324|0.07324	0.0185|0.0185	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.15952	.|T	.|0.53	-6.4499|-6.4499	0.6117|0.6117	0.00763|0.00763	0.1942:0.2839:0.2298:0.2922|0.1942:0.2839:0.2298:0.2922	.|.	.|57	.|P56279	.|TCL1A_HUMAN	H|I	31|57	.|ENSP00000451506:V57I;ENSP00000385036:V57I;ENSP00000450701:V57I;ENSP00000450496:V57I	.|ENSP00000385036:V57I	R|V	-|-	2|1	0|0	TCL1A|TCL1A	95248438|95248438	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.370000|-1.370000	0.02575|0.02575	-0.756000|-0.756000	0.04703|0.04703	-1.961000|-1.961000	0.00478|0.00478	CGT|GTC		PASS	0.562	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			60	90	60	90	---	---	---	---
CCNK	8812	broad.mit.edu	37	14	99961958	99961958	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr14:99961958G>A	ENST00000389879.5	+	4	526	c.403G>A	c.(403-405)Gac>Aac	p.D135N	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.D135N	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	135					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.D135N(1)		NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GTTTGGAGATGACCCAAAGGT	0.383																																						uc001ygi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)GAC>AAC		cyclin K isoform 1							150.0	149.0	149.0					14																	99961958		1887	4116	6003	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99961958G>A	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.403G>A	14.37:g.99961958G>A	ENSP00000374529:p.Asp135Asn					CCNK_uc001ygg.3_Missense_Mutation_p.D135N	p.D135N	NM_001099402	NP_001092872	O75909	CCNK_HUMAN			4	533	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	135					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.403G>A	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022948	0.75275	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049	T;T;T	0.24350	2.03;1.86;2.05	6.14	5.22	0.72569	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.56396	1.775	0.80722	D	1	B;B	0.31625	0.332;0.157	B;B	0.37304	0.246;0.07	T	0.02477	-1.1153	10	0.22706	T	0.39	-23.2222	17.0396	0.86484	0.0:0.0:0.8724:0.1276	.	135;135	O75909;O75909-2	CCNK_HUMAN;.	N	135	ENSP00000374529:D135N;ENSP00000450792:D135N;ENSP00000452307:D135N	ENSP00000216279:D135N	D	+	1	0	CCNK	99031711	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.937000	0.99478	0.650000	0.86243	GAC		PASS	0.383	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			138	174	138	174	---	---	---	---
IGHV1-69	28461	broad.mit.edu	37	14	107169953	107169953	+	RNA	SNP	G	G	A	rs374103583		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr14:107169953G>A	ENST00000390633.2	-	0	389									immunoglobulin heavy variable 1-69																		ATACACGGCCGTGTCCTCAGA	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.		G		0,4188		0,0,2094	349.0	282.0	304.0			0.2	0.9	14		304	1,8387		0,1,4193	no	intergenic				0,1,6287	AA,AG,GG		0.0119,0.0,0.0080			107169953	1,12575	2094	4194	6288			8755							g.chr14:107169953G>A	L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107169953G>A														39		-									RNA	SNP	ENST00000390633.2	37	c.2834C>T																																																																																					PASS	0.557	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324207.1	NG_001019		15	682	15	682	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22940827	22940827	+	Silent	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:22940827G>C	ENST00000313077.7	+	11	1217	c.1092G>C	c.(1090-1092)gcG>gcC	p.A364A	CYFIP1_ENST00000560848.1_Silent_p.A364A	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.A364A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CGGAGCTGGCGCGCTACAGCA	0.592																																						uc001yus.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(1090-1092)GCG>GCC		cytoplasmic FMR1 interacting protein 1 isoform							47.0	37.0	40.0					15																	22940827		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22940827G>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1092G>C	15.37:g.22940827G>C						CYFIP1_uc001yut.2_Silent_p.A364A|CYFIP1_uc010aya.1_Silent_p.A392A	p.A364A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	11	1196	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	364						Silent	SNP	ENST00000313077.7	37	c.1092G>C	CCDS10009.1																																																																																				PASS	0.592	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		23	25	23	25	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24923727	24923727	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:24923727G>C	ENST00000329468.2	+	1	3187	c.2713G>C	c.(2713-2715)Gat>Cat	p.D905H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	905					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D905H(1)									TGGGGCCACTGATGGGCAGCA	0.502																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2713-2715)GAT>CAT		hypothetical protein LOC23742							124.0	132.0	130.0					15																	24923727		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923727G>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2713G>C	15.37:g.24923727G>C	ENSP00000333735:p.Asp905His						p.D905H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3187	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	905						Missense_Mutation	SNP	ENST00000329468.2	37	c.2713G>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.129716	0.37630	.	.	ENSG00000185823	ENST00000329468	T	0.08546	3.08	1.49	0.315	0.15852	.	0.920677	0.08931	N	0.873054	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	D	0.53462	0.96	B	0.41332	0.354	T	0.33954	-0.9848	10	0.39692	T	0.17	.	3.1143	0.06369	0.7014:0.0:0.2986:0.0	.	905	Q9NZP6	CO002_HUMAN	H	905	ENSP00000333735:D905H	ENSP00000333735:D905H	D	+	1	0	C15orf2	22474820	0.005000	0.15991	0.007000	0.13788	0.564000	0.35744	-0.205000	0.09411	0.072000	0.16694	0.313000	0.20887	GAT		PASS	0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		88	95	88	95	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28506002	28506002	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:28506002C>A	ENST00000261609.7	-	16	2345	c.2237G>T	c.(2236-2238)cGc>cTc	p.R746L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R746L(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)		CTTGGTCACGCGCAAGGTGTC	0.582																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(2236-2238)CGC>CTC		hect domain and RLD 2							100.0	81.0	87.0					15																	28506002		2203	4300	6503	SO:0001583	missense	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.chr15:28506002C>A	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.2237G>T	15.37:g.28506002C>A	ENSP00000261609:p.Arg746Leu					HERC2_uc001zbl.1_Missense_Mutation_p.R441L	p.R746L	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)	16	2343	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	746			RCC1 5.			Missense_Mutation	SNP	ENST00000261609.7	37	c.2237G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102951	0.20632	.	.	ENSG00000128731	ENST00000261609	T	0.79653	-1.29	5.57	4.65	0.58169	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.196490	0.45606	D	0.000353	T	0.69333	0.3099	L	0.34521	1.04	0.39455	D	0.967468	B	0.06786	0.001	B	0.04013	0.001	T	0.63950	-0.6521	10	0.08381	T	0.77	.	14.683	0.69031	0.0:0.9302:0.0:0.0698	.	746	O95714	HERC2_HUMAN	L	746	ENSP00000261609:R746L	ENSP00000261609:R746L	R	-	2	0	HERC2	26179597	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.122000	0.57910	1.503000	0.48686	0.650000	0.86243	CGC		PASS	0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		14	57	14	57	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45428573	45428573	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:45428573C>G	ENST00000321429.4	+	9	1297	c.890C>G	c.(889-891)cCc>cGc	p.P297R	DUOX1_ENST00000561166.1_5'Flank|DUOX1_ENST00000389037.3_Missense_Mutation_p.P297R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	297	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.P297R(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGTGGCTGCCCAGCTTCCTG	0.632																																						uc001zus.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(5)|skin(2)|breast(1)	8						c.(889-891)CCC>CGC		dual oxidase 1 precursor							46.0	44.0	45.0					15																	45428573		2198	4295	6493	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45428573C>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.890C>G	15.37:g.45428573C>G	ENSP00000317997:p.Pro297Arg					DUOX1_uc001zut.1_Missense_Mutation_p.P297R|DUOX1_uc010bee.1_5'UTR	p.P297R	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	9	1236	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	297			Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.890C>G	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	.	25.8	4.677806	0.88445	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73681	-0.77;-0.77	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91839	0.5482	10	0.87932	D	0	-33.9772	15.6097	0.76707	0.0:1.0:0.0:0.0	.	297	Q9NRD9	DUOX1_HUMAN	R	297	ENSP00000317997:P297R;ENSP00000373689:P297R	ENSP00000317997:P297R	P	+	2	0	DUOX1	43215865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.656000	0.74396	2.636000	0.89361	0.555000	0.69702	CCC		PASS	0.632	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		3	63	3	63	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063212	48063212	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:48063212C>T	ENST00000316364.5	+	19	2891	c.2452C>T	c.(2452-2454)Cca>Tca	p.P818S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P818S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P775S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P799S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P743S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P762S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P756S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	818					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P756S(1)|p.P818S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACCTCATTCCCCATTAAGTCA	0.488																																						uc010bek.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2452-2454)CCA>TCA		semaphorin 6D isoform 4 precursor							98.0	96.0	97.0					15																	48063212		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063212C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2452C>T	15.37:g.48063212C>T	ENSP00000324857:p.Pro818Ser					SEMA6D_uc001zvw.2_Missense_Mutation_p.P756S|SEMA6D_uc001zvy.2_Missense_Mutation_p.P818S|SEMA6D_uc001zvz.2_Missense_Mutation_p.P762S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P756S|SEMA6D_uc001zwc.2_Missense_Mutation_p.P743S	p.P818S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2812	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	818			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2452C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236995	0.39498	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18657	2.2;2.26;2.26;2.26;2.2;2.2;2.2;2.21	5.06	4.14	0.48551	.	0.385921	0.29383	N	0.012316	T	0.22936	0.0554	L	0.42245	1.32	0.80722	D	1	P;P;B;P	0.48089	0.818;0.905;0.128;0.818	B;P;B;B	0.45610	0.311;0.487;0.146;0.311	T	0.01591	-1.1317	10	0.37606	T	0.19	.	13.3412	0.60545	0.0:0.9241:0.0:0.0759	.	743;762;818;756	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	S	756;818;818;799;775;762;756;743	ENSP00000442040:P756S;ENSP00000446152:P818S;ENSP00000324857:P818S;ENSP00000374084:P799S;ENSP00000374083:P775S;ENSP00000346786:P762S;ENSP00000350770:P756S;ENSP00000374079:P743S	ENSP00000324857:P818S	P	+	1	0	SEMA6D	45850504	1.000000	0.71417	0.981000	0.43875	0.836000	0.47400	3.295000	0.51794	1.349000	0.45751	0.563000	0.77884	CCA		PASS	0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		48	81	48	81	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54586201	54586201	+	Silent	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:54586201G>T	ENST00000260323.11	+	10	3927	c.3927G>T	c.(3925-3927)ctG>ctT	p.L1309L	UNC13C_ENST00000537900.1_Silent_p.L1307L|UNC13C_ENST00000545554.1_Silent_p.L1309L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1309	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.L1309L(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGATTTTCTGGGACAAACAA	0.348																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(3925-3927)CTG>CTT		unc-13 homolog C							219.0	225.0	223.0					15																	54586201		1899	4127	6026	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586201G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3927G>T	15.37:g.54586201G>T						UNC13C_uc002acl.2_Silent_p.L139L	p.L1309L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	9	3927	+			1309			C2 1.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3927G>T	CCDS45264.1																																																																																				PASS	0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		85	109	85	109	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65964148	65964148	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:65964148G>A	ENST00000431932.2	-	24	4522	c.4314C>T	c.(4312-4314)ttC>ttT	p.F1438F	DENND4A_ENST00000443035.3_Silent_p.F1481F	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1438					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F1481F(1)|p.F1440F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CATAGTTCTGGAAGATATTTG	0.373																																						uc002aph.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(4312-4314)TTC>TTT		DENN/MADD domain containing 4A isoform 2							137.0	133.0	134.0					15																	65964148		1845	4098	5943	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65964148G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4314C>T	15.37:g.65964148G>A						DENND4A_uc002api.2_Silent_p.F1481F	p.F1438F	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			24	4692	-			1438					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.4314C>T	CCDS45285.1																																																																																				PASS	0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		45	93	45	93	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86262337	86262337	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:86262337G>A	ENST00000394518.2	+	23	6127	c.6032G>A	c.(6031-6033)cGc>cAc	p.R2011H	AKAP13_ENST00000394510.2_Missense_Mutation_p.R256H|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2015H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2011	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.R91H(1)|p.R2015H(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CATCATGTCCGCACTCTCAAG	0.458																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(6031-6033)CGC>CAC		A-kinase anchor protein 13 isoform 2							131.0	115.0	121.0					15																	86262337		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86262337G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6032G>A	15.37:g.86262337G>A	ENSP00000378026:p.Arg2011His					AKAP13_uc002blu.1_Missense_Mutation_p.R2015H|AKAP13_uc010bnf.1_Missense_Mutation_p.R632H|AKAP13_uc002blw.1_Missense_Mutation_p.R476H|AKAP13_uc002blx.1_Missense_Mutation_p.R256H	p.R2011H	NM_007200	NP_009131	Q12802	AKP13_HUMAN			23	6202	+			2011			Interaction with ESR1.|DH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6032G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262189	0.59431	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.70164	-0.46;-0.46;-0.46	5.16	4.25	0.50352	Dbl homology (DH) domain (5);	.	.	.	.	T	0.65344	0.2682	M	0.83312	2.635	0.41211	D	0.98644	B;P;P	0.43024	0.445;0.798;0.76	B;B;B	0.32980	0.058;0.156;0.097	T	0.73477	-0.3970	9	0.59425	D	0.04	.	13.4863	0.61369	0.0752:0.0:0.9248:0.0	.	1991;2011;2015	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	H	91;2015;2011;2014;1990;256	ENSP00000354718:R2015H;ENSP00000378026:R2011H;ENSP00000378018:R256H	ENSP00000354718:R2015H	R	+	2	0	AKAP13	84063341	1.000000	0.71417	0.998000	0.56505	0.227000	0.25037	6.193000	0.72075	1.544000	0.49359	0.655000	0.94253	CGC		PASS	0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		4	96	4	96	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346039	102346039	+	Silent	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr15:102346039G>T	ENST00000328882.4	+	1	138	c.117G>T	c.(115-117)ctG>ctT	p.L39L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L39L(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTCAAGCCTGATGGGAAATC	0.488																																						uc010utr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(115-117)CTG>CTT		olfactory receptor, family 4, subfamily F,							270.0	249.0	256.0					15																	102346039		2203	4300	6503	SO:0001819	synonymous_variant	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346039G>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.117G>T	15.37:g.102346039G>T							p.L39L	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	117	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		39			Helical; Name=1; (Potential).		B9EH28|Q6IF95	Silent	SNP	ENST00000328882.4	37	c.117G>T	CCDS32341.1																																																																																				PASS	0.488	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			117	304	117	304	---	---	---	---
PRR35	146325	broad.mit.edu	37	16	614874	614874	+	Missense_Mutation	SNP	C	C	A	rs372578151		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr16:614874C>A	ENST00000409413.3	+	3	1562	c.1283C>A	c.(1282-1284)gCg>gAg	p.A428E	NHLRC4_ENST00000424439.2_5'Flank|PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		428								p.A428E(1)		central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TTGGGGCCCGCGGGGGGCCTG	0.726																																						uc002chk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1282-1284)GCG>GAG		hypothetical protein LOC146325							5.0	6.0	6.0					16																	614874		1704	3859	5563	SO:0001583	missense	146325							g.chr16:614874C>A																												ENST00000409413.3:c.1283C>A	16.37:g.614874C>A	ENSP00000386499:p.Ala428Glu					NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	p.A428E	NM_145270	NP_660313	P0CG20	CP011_HUMAN			3	1562	+			428					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.1283C>A	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	1.568	-0.534968	0.04082	.	.	ENSG00000161992	ENST00000409413	T	0.08370	3.1	4.95	2.99	0.34606	.	0.656995	0.13294	N	0.398777	T	0.06142	0.0159	L	0.45581	1.43	0.09310	N	1	P	0.38565	0.637	B	0.32211	0.142	T	0.34700	-0.9818	10	0.18710	T	0.47	.	4.7512	0.13061	0.1702:0.6457:0.0:0.1841	.	428	P0CG20	CP011_HUMAN	E	428	ENSP00000386499:A428E	ENSP00000386499:A428E	A	+	2	0	C16orf11	554875	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.402000	0.20965	0.498000	0.27948	0.491000	0.48974	GCG		PASS	0.726	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			10	7	10	7	---	---	---	---
TPSD1	23430	broad.mit.edu	37	16	1306282	1306282	+	Start_Codon_SNP	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr16:1306282A>T	ENST00000211076.3	+	1	149	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TPSD1_ENST00000397534.2_Intron|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	1						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.M1L(1)|p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CAGGCCCACGATGCTCCTCCT	0.716																																						uc002clb.1																			2	Substitution - Missense(1)|Unknown(1)		lung(2)		0						c.(1-3)ATG>TTG		tryptase delta 1 precursor							38.0	49.0	45.0					16																	1306282		2198	4298	6496	SO:0001582	initiator_codon_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306282A>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.1A>T	16.37:g.1306282A>T	ENSP00000211076:p.Met1Leu					TPSD1_uc010brm.1_5'Flank	p.M1L	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			1	10	+		Hepatocellular(780;0.00369)	1					O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.1A>T	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	5.972	0.363370	0.11296	.	.	ENSG00000095917	ENST00000211076	D	0.83419	-1.72	1.99	-1.52	0.08637	.	.	.	.	.	T	0.69940	0.3167	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57871	-0.7736	8	0.87932	D	0	.	2.1115	0.03703	0.2581:0.396:0.0:0.346	.	1	Q9BZJ3	TRYD_HUMAN	L	1	ENSP00000211076:M1L	ENSP00000211076:M1L	M	+	1	0	TPSD1	1246283	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.691000	0.05133	-0.374000	0.07967	0.155000	0.16302	ATG		PASS	0.716	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		Missense_Mutation	36	113	36	113	---	---	---	---
GNPTG	84572	broad.mit.edu	37	16	1412532	1412532	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr16:1412532C>A	ENST00000204679.4	+	8	649	c.606C>A	c.(604-606)ccC>ccA	p.P202P	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	202					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)	p.P202P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				TGATCACCCCCCAGGTAAGCG	0.662																																						uc002clm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(604-606)CCC>CCA		N-acetylglucosamine-1-phosphotransferase, gamma							37.0	41.0	40.0					16																	1412532		2199	4300	6499	SO:0001819	synonymous_variant	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1412532C>A	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.606C>A	16.37:g.1412532C>A							p.P202P	NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN			8	641	+		Hepatocellular(780;0.0893)	202					B2R556|Q6XYD7|Q96L13	Silent	SNP	ENST00000204679.4	37	c.606C>A	CCDS10436.1																																																																																				PASS	0.662	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		37	12	37	12	---	---	---	---
MAPK8IP3	23162	broad.mit.edu	37	16	1814419	1814419	+	Missense_Mutation	SNP	G	G	T	rs202007860		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr16:1814419G>T	ENST00000250894.4	+	19	2393	c.2236G>T	c.(2236-2238)Ggc>Tgc	p.G746C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G740C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	746					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.G746C(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGAAGGAGACGGCGAGCCCAA	0.662																																						uc002cmk.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(2236-2238)GGC>TGC		mitogen-activated protein kinase 8 interacting							18.0	24.0	22.0					16																	1814419		2066	4201	6267	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1814419G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2236G>T	16.37:g.1814419G>T	ENSP00000250894:p.Gly746Cys					MAPK8IP3_uc002cml.2_Missense_Mutation_p.G740C|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.G747C	p.G746C	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			19	2356	+			746					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2236G>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693511	0.48202	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.32515	1.45;1.45	4.99	1.98	0.26296	.	0.230370	0.44688	D	0.000430	T	0.43077	0.1231	L	0.54323	1.7	0.58432	D	0.999999	B;P;D	0.56521	0.005;0.9;0.976	B;P;P	0.61940	0.031;0.592;0.896	T	0.17349	-1.0372	10	0.56958	D	0.05	-10.4343	9.4368	0.38643	0.2308:0.0:0.7692:0.0	.	747;740;746	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	C	746;740	ENSP00000250894:G746C;ENSP00000348290:G740C	ENSP00000250894:G746C	G	+	1	0	MAPK8IP3	1754420	1.000000	0.71417	0.004000	0.12327	0.008000	0.06430	3.481000	0.53179	0.173000	0.19788	-0.229000	0.12294	GGC		PASS	0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		12	3	12	3	---	---	---	---
VAT1L	57687	broad.mit.edu	37	16	77918563	77918563	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr16:77918563C>A	ENST00000302536.2	+	7	1094	c.941C>A	c.(940-942)gCg>gAg	p.A314E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	314							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.A314E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AAAGTCATCGCGGGGTTTTCC	0.502																																						uc002ffg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(940-942)GCG>GAG		vesicle amine transport protein 1 homolog (T.							72.0	64.0	67.0					16																	77918563		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77918563C>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.941C>A	16.37:g.77918563C>A	ENSP00000303129:p.Ala314Glu						p.A314E	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			7	1038	+			314					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.941C>A	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045154	0.93685	.	.	ENSG00000171724	ENST00000302536	T	0.08984	3.03	5.92	5.92	0.95590	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	L	0.53249	1.67	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.00063	-1.2155	10	0.30854	T	0.27	-14.3128	19.9118	0.97027	0.0:1.0:0.0:0.0	.	314	Q9HCJ6	VAT1L_HUMAN	E	314	ENSP00000303129:A314E	ENSP00000303129:A314E	A	+	2	0	VAT1L	76476064	1.000000	0.71417	0.963000	0.40424	0.930000	0.56654	7.487000	0.81328	2.809000	0.96659	0.557000	0.71058	GCG		PASS	0.502	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		20	10	20	10	---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6380497	6380497	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:6380497C>A	ENST00000262483.8	-	9	1024	c.937G>T	c.(937-939)Gcc>Tcc	p.A313S	PITPNM3_ENST00000421306.3_Missense_Mutation_p.A277S	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	313	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.A313S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TTGCTGCTGGCCAGGCTGCAA	0.587																																						uc002gdd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(937-939)GCC>TCC		PITPNM family member 3 isoform 1							115.0	92.0	99.0					17																	6380497		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6380497C>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.937G>T	17.37:g.6380497C>A	ENSP00000262483:p.Ala313Ser					PITPNM3_uc010cln.2_Missense_Mutation_p.A277S|PITPNM3_uc002gdc.3_5'UTR	p.A313S	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	9	1088	-			313			Ser-rich.		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.937G>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	9.087	1.000746	0.19121	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.41065	1.01;1.01	5.2	3.19	0.36642	.	0.296810	0.37715	N	0.001961	T	0.16811	0.0404	N	0.03608	-0.345	0.23314	N	0.997924	B;B	0.13145	0.007;0.006	B;B	0.11329	0.006;0.002	T	0.18085	-1.0348	10	0.09843	T	0.71	.	9.9369	0.41556	0.0:0.8512:0.0:0.1488	.	277;313	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	313;277	ENSP00000262483:A313S;ENSP00000407882:A277S	ENSP00000262483:A313S	A	-	1	0	PITPNM3	6321221	0.001000	0.12720	1.000000	0.80357	0.956000	0.61745	0.346000	0.19997	2.432000	0.82394	0.563000	0.77884	GCC		PASS	0.587	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		4	95	4	95	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:7578394T>A	ENST00000269305.4	-	5	725	c.536A>T	c.(535-537)cAt>cTt	p.H179L	TP53_ENST00000413465.2_Missense_Mutation_p.H179L|TP53_ENST00000420246.2_Missense_Mutation_p.H179L|TP53_ENST00000455263.2_Missense_Mutation_p.H179L|TP53_ENST00000445888.2_Missense_Mutation_p.H179L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(535-537)CAT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>T	17.37:g.7578394T>A	ENSP00000269305:p.His179Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179L|TP53_uc002gih.2_Missense_Mutation_p.H179L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47L|TP53_uc010cng.1_Missense_Mutation_p.H47L|TP53_uc002gii.1_Missense_Mutation_p.H47L|TP53_uc010cnh.1_Missense_Mutation_p.H179L|TP53_uc010cni.1_Missense_Mutation_p.H179L|TP53_uc002gij.2_Missense_Mutation_p.H179L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86L|TP53_uc002gio.2_Missense_Mutation_p.H47L|TP53_uc010vug.1_Missense_Mutation_p.H140L	p.H179L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794677	0.70452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99910	-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	B;P;B;D;B;P;B	0.89917	0.081;0.679;0.133;1.0;0.333;0.536;0.224	B;P;B;D;P;B;B	0.97110	0.095;0.686;0.119;1.0;0.46;0.397;0.107	D	0.95915	0.8926	10	0.72032	D	0.01	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179L;ENSP00000352610:H179L;ENSP00000269305:H179L;ENSP00000398846:H179L;ENSP00000391127:H179L;ENSP00000391478:H179L;ENSP00000425104:H47L;ENSP00000423862:H86L	ENSP00000269305:H179L	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		PASS	0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		93	21	93	21	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10450873	10450873	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:10450873C>G	ENST00000245503.5	-	4	651	c.267G>C	c.(265-267)gaG>gaC	p.E89D	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.E89D|MYH2_ENST00000397183.2_Missense_Mutation_p.E89D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	89	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E89D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCCATATCCTCGATCTTGT	0.468																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(265-267)GAG>GAC		myosin heavy chain IIa							341.0	292.0	309.0					17																	10450873		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10450873C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.267G>C	17.37:g.10450873C>G	ENSP00000245503:p.Glu89Asp					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E89D|MYH2_uc010coj.2_Missense_Mutation_p.E89D	p.E89D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			4	395	-			89			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.267G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523716	0.44866	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.95	4.98	0.66077	Myosin head, motor domain (2);	0.000000	0.39687	U	0.001290	T	0.80849	0.4702	M	0.64170	1.965	0.52099	D	0.999947	P;B	0.45428	0.858;0.236	D;P	0.71414	0.973;0.537	T	0.81590	-0.0863	10	0.66056	D	0.02	.	10.3102	0.43704	0.0:0.851:0.0:0.149	.	89;89	Q567P6;Q9UKX2	.;MYH2_HUMAN	D	89	ENSP00000433944:E89D;ENSP00000245503:E89D;ENSP00000380367:E89D;ENSP00000399348:E89D;ENSP00000416072:E89D	ENSP00000245503:E89D	E	-	3	2	MYH2	10391598	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.262000	0.51538	1.513000	0.48852	0.650000	0.86243	GAG		PASS	0.468	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		97	182	97	182	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10554936	10554936	+	Missense_Mutation	SNP	G	G	C	rs368449050		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:10554936G>C	ENST00000583535.1	-	5	485	c.398C>G	c.(397-399)cCg>cGg	p.P133R	MYH3_ENST00000226209.7_Missense_Mutation_p.P133R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	133	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.P133R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTTGTACACCGGCAGCCACTT	0.527																																						uc002gmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(397-399)CCG>CGG		myosin, heavy chain 3, skeletal muscle,							87.0	91.0	90.0					17																	10554936		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10554936G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.398C>G	17.37:g.10554936G>C	ENSP00000464317:p.Pro133Arg						p.P133R	NM_002470	NP_002461	P11055	MYH3_HUMAN			4	475	-			133			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.398C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653296	0.88056	.	.	ENSG00000109063	ENST00000226209	T	0.73897	-0.79	4.37	4.37	0.52481	Myosin head, motor domain (3);	.	.	.	.	D	0.90549	0.7038	H	0.95884	3.735	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	D	0.93856	0.7149	9	0.87932	D	0	.	17.1542	0.86785	0.0:0.0:1.0:0.0	.	133	P11055	MYH3_HUMAN	R	133	ENSP00000226209:P133R	ENSP00000226209:P133R	P	-	2	0	MYH3	10495661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.284000	0.76573	0.555000	0.69702	CCG		PASS	0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		79	117	79	117	---	---	---	---
COX10	1352	broad.mit.edu	37	17	13977644	13977644	+	Silent	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:13977644C>T	ENST00000261643.3	+	2	125	c.48C>T	c.(46-48)tgC>tgT	p.C16C	COX10_ENST00000429152.2_Silent_p.C16C|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	16					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)	p.C16C(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTATAGGTTGCGTAGGAGGCT	0.418																																						uc002gof.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)TGC>TGT		heme A:farnesyltransferase precursor							103.0	104.0	104.0					17																	13977644		2203	4300	6503	SO:0001819	synonymous_variant	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13977644C>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.48C>T	17.37:g.13977644C>T						COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR	p.C16C	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	2	252	+		all_lung(20;0.06)|Lung SC(565;0.168)	16					B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	37	c.48C>T	CCDS11166.1																																																																																				PASS	0.418	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		66	121	66	121	---	---	---	---
ZNF286A	57335	broad.mit.edu	37	17	15619515	15619515	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:15619515A>T	ENST00000464847.2	+	5	1030	c.477A>T	c.(475-477)gaA>gaT	p.E159D	ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E159D|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E159D|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E159D|ZNF286A_ENST00000593105.1_Missense_Mutation_p.E149D			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	159					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.E159D(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TTGAATGTGAAAATTGGTTAG	0.388																																						uc010cot.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(475-477)GAA>GAT		zinc finger protein 286							103.0	100.0	101.0					17																	15619515		2202	4298	6500	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619515A>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.477A>T	17.37:g.15619515A>T	ENSP00000464218:p.Glu159Asp					ZNF286A_uc002goz.3_Missense_Mutation_p.E47D|ZNF286A_uc010vwa.1_Missense_Mutation_p.E159D|ZNF286A_uc002gpa.2_Missense_Mutation_p.E159D	p.E159D	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	6	873	+			159					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.477A>T	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	a	7.740	0.701023	0.15172	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.07444	3.55;3.19	4.38	2.09	0.27110	.	1.199520	0.06434	N	0.724725	T	0.06188	0.0160	L	0.28344	0.845	0.25593	N	0.986674	B	0.06786	0.001	B	0.06405	0.002	T	0.43925	-0.9361	10	0.30854	T	0.27	-11.1387	3.2126	0.06687	0.6794:0.0:0.1162:0.2043	.	159	Q9HBT8	Z286A_HUMAN	D	159;149;159	ENSP00000397163:E159D;ENSP00000408168:E149D	ENSP00000435872:E159D	E	+	3	2	ZNF286A	15560240	0.032000	0.19561	0.977000	0.42913	0.996000	0.88848	0.281000	0.18810	0.208000	0.20626	0.528000	0.53228	GAA		PASS	0.388	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		49	83	49	83	---	---	---	---
CORO6	84940	broad.mit.edu	37	17	27944061	27944061	+	Splice_Site	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:27944061C>T	ENST00000445145.2	-	6	755		c.e6-1		RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Splice_Site|CORO6_ENST00000345068.5_Splice_Site|CORO6_ENST00000456796.3_Splice_Site|CORO6_ENST00000584969.1_Splice_Site|CORO6_ENST00000580212.1_Splice_Site|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGAAGTTGTTCTGCCCGAGCA	0.607																																						uc002hel.2																			1	Unknown(1)		lung(1)		0						c.e6-1		coronin 6							118.0	103.0	108.0					17																	27944061		2203	4300	6503	SO:0001630	splice_region_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27944061C>T	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.754-1G>A	17.37:g.27944061C>T						CORO6_uc002hem.2_Splice_Site_p.N18_splice|CORO6_uc002hen.2_Splice_Site_p.N18_splice	p.N252_splice	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			6	756	-								B3KU26|Q71MF3|Q8WYH7|Q96K02	Splice_Site	SNP	ENST00000445145.2	37	c.754_splice		.	.	.	.	.	.	.	.	.	.	C	22.9	4.350274	0.82132	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145;ENST00000456796	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7579	0.91839	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORO6	24968187	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.512000	0.81728	2.750000	0.94351	0.655000	0.94253	.		PASS	0.607	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	Intron	38	158	38	158	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29527583	29527583	+	Silent	SNP	A	A	G	rs199832006		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:29527583A>G	ENST00000358273.4	+	9	1415	c.1032A>G	c.(1030-1032)ctA>ctG	p.L344L	NF1_ENST00000356175.3_Silent_p.L344L|NF1_ENST00000431387.4_Silent_p.L344L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	344					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.L344L(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATTTTCCTACTTGTTCAGT	0.353			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		16	Whole gene deletion(8)|Unknown(6)|Substitution - coding silent(2)	p.?(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(3)|central_nervous_system(3)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1030-1032)CTA>CTG		neurofibromin isoform 1		A	,,	0,4406		0,0,2203	113.0	103.0	106.0		1032,1032,1032	-9.1	0.1	17		106	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	NF1	NM_000267.3,NM_001042492.2,NM_001128147.2	,,	0,5,6498	GG,GA,AA		0.0581,0.0,0.0384	,,	344/2819,344/2840,344/594	29527583	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527583A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1032A>G	17.37:g.29527583A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Silent_p.L344L|NF1_uc002hgf.1_Silent_p.L344L|NF1_uc002hgh.2_Silent_p.L344L|NF1_uc010csn.1_Silent_p.L204L	p.L344L	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	9	1365	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	344					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.1032A>G	CCDS42292.1																																																																																				PASS	0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		66	96	66	96	---	---	---	---
MMP28	79148	broad.mit.edu	37	17	34105972	34105972	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:34105972G>A	ENST00000250144.8	-	3	628	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	100					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A100V(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Marimastat(DB00786)	AGCCCAGGCCGCATAACTGTT	0.567																																						uc002hjy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(298-300)GCG>GTG		matrix metalloproteinase 28 isoform 1							80.0	84.0	83.0					17																	34105972		2097	4224	6321	SO:0001583	missense	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34105972G>A	AF315683	CCDS45651.1, CCDS74036.1	17q12	2014-08-12	2005-08-08		ENSG00000271447	ENSG00000271447			14366	protein-coding gene	gene with protein product		608417	"""matrix metalloproteinase 28"""			11121398, 11255011	Standard	NM_024302		Approved	MMP-25, MM28, EPILYSIN, MMP-28	uc002hjy.1	Q9H239	OTTHUMG00000188387	ENST00000250144.8:c.299C>T	17.37:g.34105972G>A	ENSP00000250144:p.Ala100Val					MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.A100V	p.A100V	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	558	-		Ovarian(249;0.17)	100					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000250144.8	37	c.299C>T	CCDS45651.1	.	.	.	.	.	.	.	.	.	.	G	9.576	1.122373	0.20877	.	.	ENSG00000129270	ENST00000338839;ENST00000538544;ENST00000250144	T	0.65364	-0.15	5.47	-4.14	0.03892	Metallopeptidase, catalytic domain (1);	0.988188	0.08223	N	0.978801	T	0.39145	0.1067	.	.	.	0.09310	N	1	B;B	0.18968	0.032;0.01	B;B	0.08055	0.003;0.001	T	0.16600	-1.0397	9	0.33940	T	0.23	.	3.8989	0.09152	0.3068:0.0:0.3374:0.3558	.	100;100	Q9H239-2;Q9H239	.;MMP28_HUMAN	V	100	ENSP00000250144:A100V	ENSP00000250144:A100V	A	-	2	0	MMP28	31130085	0.000000	0.05858	0.006000	0.13384	0.307000	0.27823	-0.008000	0.12788	-0.627000	0.05589	-1.093000	0.02169	GCG		PASS	0.567	MMP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449269.1	NM_024302		4	124	4	124	---	---	---	---
KLHL11	55175	broad.mit.edu	37	17	40021526	40021526	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:40021526G>A	ENST00000319121.3	-	1	158	c.98C>T	c.(97-99)tCg>tTg	p.S33L	ACLY_ENST00000588779.1_5'Flank	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	33								p.S33L(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CAGTCCTGCCGAGCCGGCGGC	0.741																																						uc002hyf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TCG>TTG		kelch-like 11 precursor							8.0	9.0	9.0					17																	40021526		1273	2943	4216	SO:0001583	missense	55175					extracellular region		g.chr17:40021526G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.98C>T	17.37:g.40021526G>A	ENSP00000314608:p.Ser33Leu						p.S33L	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			1	104	-		Breast(137;0.00156)	33						Missense_Mutation	SNP	ENST00000319121.3	37	c.98C>T	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	g	15.76	2.929583	0.52759	.	.	ENSG00000178502	ENST00000319121	T	0.72615	-0.67	5.33	4.37	0.52481	.	0.526214	0.18984	N	0.125797	T	0.47377	0.1442	N	0.08118	0	0.35904	D	0.830613	B	0.24368	0.102	B	0.10450	0.005	T	0.51482	-0.8700	10	0.36615	T	0.2	-11.9416	8.6262	0.33890	0.0821:0.1521:0.7658:0.0	.	33	Q9NVR0	KLH11_HUMAN	L	33	ENSP00000314608:S33L	ENSP00000314608:S33L	S	-	2	0	KLHL11	37275052	1.000000	0.71417	0.238000	0.24106	0.567000	0.35839	3.191000	0.50981	1.255000	0.44051	0.651000	0.88453	TCG		PASS	0.741	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		18	26	18	26	---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40345412	40345412	+	Missense_Mutation	SNP	T	T	G	rs372702776		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:40345412T>G	ENST00000301671.8	-	2	629	c.188A>C	c.(187-189)cAc>cCc	p.H63P	GHDC_ENST00000587427.1_Missense_Mutation_p.H63P|GHDC_ENST00000414034.3_Missense_Mutation_p.H63P|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000593209.1_Missense_Mutation_p.H63P|GHDC_ENST00000428494.2_Missense_Mutation_p.H63P|GHDC_ENST00000436923.2_Missense_Mutation_p.H63P			Q8N2G8	GHDC_HUMAN	GH3 domain containing	63						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.H63P(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGGCTCTGGTGCACATGGAG	0.677																																						uc002hzd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(187-189)CAC>CCC		LGP1 homolog isoform 1							21.0	19.0	20.0					17																	40345412		2200	4294	6494	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40345412T>G	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.188A>C	17.37:g.40345412T>G	ENSP00000301671:p.His63Pro					GHDC_uc002hzg.1_Missense_Mutation_p.H63P|GHDC_uc010wgg.1_Missense_Mutation_p.H63P|GHDC_uc002hze.3_Missense_Mutation_p.H63P|GHDC_uc002hzf.3_Missense_Mutation_p.H63P|GHDC_uc010cxz.2_RNA	p.H63P	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	672	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	63					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.188A>C	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.640770	0.29157	.	.	ENSG00000167925	ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	5.7	-2.94	0.05581	.	1.352180	0.04694	N	0.414606	T	0.14056	0.0340	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33477	0.046;0.413;0.347	B;B;B	0.31495	0.029;0.131;0.063	T	0.14531	-1.0469	8	.	.	.	-0.7606	2.0767	0.03626	0.1254:0.3491:0.1231:0.4024	.	63;63;63	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	P	63	.	.	H	-	2	0	GHDC	37598938	0.022000	0.18835	0.003000	0.11579	0.016000	0.09150	0.069000	0.14552	-0.148000	0.11234	-0.912000	0.02778	CAC		PASS	0.677	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		6	17	6	17	---	---	---	---
COASY	80347	broad.mit.edu	37	17	40717012	40717012	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:40717012A>T	ENST00000393818.2	+	5	1705	c.1249A>T	c.(1249-1251)Aaa>Taa	p.K417*	COASY_ENST00000421097.2_Nonsense_Mutation_p.K417*|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Nonsense_Mutation_p.K417*|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000449624.1_Nonsense_Mutation_p.K122*|COASY_ENST00000590958.1_Nonsense_Mutation_p.K446*|MLX_ENST00000346833.4_5'Flank|MLX_ENST00000435881.2_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	417	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.K417*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TATTCTCCATAAAGATGGCAT	0.502																																						uc002hzz.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1249-1251)AAA>TAA		coenzyme A synthase isoform a							124.0	121.0	122.0					17																	40717012		2203	4300	6503	SO:0001587	stop_gained	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40717012A>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1249A>T	17.37:g.40717012A>T	ENSP00000377406:p.Lys417*					COASY_uc010cyj.2_Nonsense_Mutation_p.K446*|COASY_uc002iab.2_Nonsense_Mutation_p.K122*|COASY_uc002iad.2_Nonsense_Mutation_p.K417*|COASY_uc002iac.2_Nonsense_Mutation_p.K417*|COASY_uc002iae.2_Nonsense_Mutation_p.K212*|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	p.K417*	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	1406	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	417			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Nonsense_Mutation	SNP	ENST00000393818.2	37	c.1249A>T	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	A	41	8.648106	0.98899	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	.	.	.	5.07	1.4	0.22301	.	0.280390	0.40908	D	0.000984	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-4.5292	7.0922	0.25289	0.5045:0.4091:0.0864:0.0	.	.	.	.	X	446;122;417;417	.	ENSP00000377406:K417X	K	+	1	0	COASY	37970538	0.983000	0.35010	1.000000	0.80357	0.984000	0.73092	2.176000	0.42500	0.371000	0.24564	0.459000	0.35465	AAA		PASS	0.502	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		110	127	110	127	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246321	41246321	+	Silent	SNP	T	T	A	rs149349675		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:41246321T>A	ENST00000357654.3	-	10	1345	c.1227A>T	c.(1225-1227)gtA>gtT	p.V409V	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Silent_p.V362V|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Silent_p.V113V|BRCA1_ENST00000354071.3_Silent_p.V409V|BRCA1_ENST00000346315.3_Silent_p.V409V|BRCA1_ENST00000471181.2_Silent_p.V409V	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	409					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V409V(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATACATCAGCTACTTTGGCAT	0.388			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - coding silent(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(1225-1227)GTA>GTT	Homologous_recombination	breast cancer 1, early onset isoform 1							94.0	91.0	92.0					17																	41246321		2203	4299	6502	SO:0001819	synonymous_variant	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246321T>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1227A>T	17.37:g.41246321T>A		TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.V338V|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.V362V|BRCA1_uc002ict.2_Silent_p.V409V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.V409V|BRCA1_uc002ide.1_Silent_p.V240V|BRCA1_uc010cyy.1_Silent_p.V409V|BRCA1_uc010whs.1_Silent_p.V409V|BRCA1_uc010cyz.2_Silent_p.V362V|BRCA1_uc010cza.2_Silent_p.V383V|BRCA1_uc010wht.1_Silent_p.V113V	p.V409V	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1459	-		Breast(137;0.000717)	409					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.1227A>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.506484	0.00992	.	.	ENSG00000012048	ENST00000473961	.	.	.	4.69	-1.82	0.07857	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4936	0.00568	0.3057:0.2874:0.1405:0.2664	.	.	.	.	L	275	.	.	X	-	2	0	BRCA1	38499847	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.036000	0.12185	-0.223000	0.09943	0.533000	0.62120	TAG		PASS	0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		65	129	65	129	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994416	45994416	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:45994416G>A	ENST00000376741.4	+	3	1116	c.979G>A	c.(979-981)Gca>Aca	p.A327T	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	327					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)	p.A327T(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGTGCAGGCGGCATCTGCCAC	0.647																																						uc002imk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)GCA>ACA		Sp2 transcription factor							37.0	35.0	36.0					17																	45994416		2197	4297	6494	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994416G>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.979G>A	17.37:g.45994416G>A	ENSP00000365931:p.Ala327Thr					SP2_uc002iml.2_Missense_Mutation_p.A320T|uc002imm.2_Intron	p.A327T	NM_003110	NP_003101	Q02086	SP2_HUMAN			3	1116	+			327					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.979G>A	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612342	0.87258	.	.	ENSG00000167182	ENST00000376741	T	0.10005	2.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00248	-1.1880	10	0.29301	T	0.29	.	18.1345	0.89614	0.0:0.0:1.0:0.0	.	327	Q02086	SP2_HUMAN	T	327	ENSP00000365931:A327T	ENSP00000365931:A327T	A	+	1	0	SP2	43349415	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.157000	0.94714	2.816000	0.96949	0.563000	0.77884	GCA		PASS	0.647	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		4	111	4	111	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60088374	60088374	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:60088374G>C	ENST00000397786.2	-	9	1580	c.1504C>G	c.(1504-1506)Cca>Gca	p.P502A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	502					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P502A(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGACTGTCTGGAGCAGAGATC	0.473																																						uc002izo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1504-1506)CCA>GCA		mediator complex subunit 13							134.0	131.0	132.0					17																	60088374		2011	4188	6199	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60088374G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1504C>G	17.37:g.60088374G>C	ENSP00000380888:p.Pro502Ala					MED13_uc002izp.2_Missense_Mutation_p.P118A	p.P502A	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			9	1581	-			502					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.1504C>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358949	0.24598	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73575	-0.76	6.16	2.76	0.32466	.	0.286767	0.40728	N	0.001024	T	0.54983	0.1892	L	0.29908	0.895	0.27423	N	0.954235	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.34502	-0.9826	10	0.10636	T	0.68	-19.7554	6.5714	0.22541	0.2388:0.1301:0.6312:0.0	.	15;502	Q9P0Q5;Q9UHV7	.;MED13_HUMAN	A	502;501	ENSP00000380888:P502A	ENSP00000262436:P501A	P	-	1	0	MED13	57443156	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.209000	0.51122	0.319000	0.23209	0.650000	0.86243	CCA		PASS	0.473	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		50	62	50	62	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63526217	63526217	+	Silent	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:63526217A>G	ENST00000375702.5	-	9	2322	c.2214T>C	c.(2212-2214)taT>taC	p.Y738Y	AXIN2_ENST00000307078.5_Silent_p.Y803Y			Q9Y2T1	AXIN2_HUMAN	axin 2	803					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.Y803Y(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						TTTTGAAGTAATACCTTAAAA	0.443									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2407-2409)TAT>TAC		axin 2							91.0	84.0	87.0					17																	63526217		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.chr17:63526217A>G	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.2214T>C	17.37:g.63526217A>G						AXIN2_uc002jfh.2_Silent_p.Y738Y	p.Y803Y	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			11	2698	-			803			DIX.		Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.2409T>C																																																																																					PASS	0.443	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		5	145	5	145	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71386527	71386527	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:71386527C>A	ENST00000392650.3	-	29	4091	c.4091G>T	c.(4090-4092)gGc>gTc	p.G1364V	SDK2_ENST00000388726.3_Missense_Mutation_p.G1364V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1364	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G1364V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTGAGGCCCGTGGCTGT	0.647																																						uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4090-4092)GGC>GTC		sidekick 2							53.0	36.0	42.0					17																	71386527		2202	4300	6502	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71386527C>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4091G>T	17.37:g.71386527C>A	ENSP00000376421:p.Gly1364Val					SDK2_uc002jjt.3_Missense_Mutation_p.G523V|SDK2_uc010dfn.2_Missense_Mutation_p.G1043V	p.G1364V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			29	4091	-			1364			Fibronectin type-III 8.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4091G>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730660	0.48939	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.62232	0.04;0.04;0.04	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.220962	0.47455	D	0.000221	T	0.81758	0.4890	M	0.91406	3.205	0.80722	D	1	P;P;P	0.37985	0.598;0.613;0.559	B;P;P	0.56648	0.426;0.803;0.703	D	0.84091	0.0390	10	0.59425	D	0.04	.	14.0134	0.64511	0.0:0.8484:0.1516:0.0	.	1364;1364;1364	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	V	988;1364;1364;540;1364	ENSP00000376421:G1364V;ENSP00000373378:G1364V;ENSP00000407098:G540V	ENSP00000324967:G1364V	G	-	2	0	SDK2	68898122	0.020000	0.18652	0.997000	0.53966	0.109000	0.19521	1.021000	0.30040	2.430000	0.82344	0.561000	0.74099	GGC		PASS	0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		5	38	5	38	---	---	---	---
CD300E	342510	broad.mit.edu	37	17	72613346	72613346	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr17:72613346C>A	ENST00000328630.3	-	2	339	c.299G>T	c.(298-300)gGa>gTa	p.G100V	CD300E_ENST00000392619.1_Missense_Mutation_p.G127V|CD300E_ENST00000426295.2_Missense_Mutation_p.G141V			Q496F6	CLM2_HUMAN	CD300e molecule	100	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G141V(1)|p.G100V(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCAGTAAGATCCAGCATCATC	0.542																																						uc002jlb.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|ovary(1)	4						c.(298-300)GGA>GTA		CD300e molecule precursor							204.0	163.0	177.0					17																	72613346		2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613346C>A	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.299G>T	17.37:g.72613346C>A	ENSP00000329942:p.Gly100Val						p.G100V	NM_181449	NP_852114	Q496F6	CLM2_HUMAN			2	340	-			100			Ig-like V-type.|Extracellular (Potential).		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.299G>T	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354619	0.41700	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.89	1.79	0.24919	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000248	T	0.38081	0.1027	H	0.96430	3.82	0.20074	N	0.999939	D	0.89917	1.0	D	0.97110	1.0	T	0.21552	-1.0242	10	0.87932	D	0	-13.6279	4.3603	0.11199	0.0:0.6091:0.1901:0.2008	.	100	Q496F6	CLM2_HUMAN	V	127;141;100;102	ENSP00000376395:G127V;ENSP00000416642:G141V;ENSP00000329942:G100V;ENSP00000415488:G102V	ENSP00000329942:G100V	G	-	2	0	CD300E	70124941	0.008000	0.16893	0.004000	0.12327	0.001000	0.01503	0.659000	0.24994	0.724000	0.32296	-1.031000	0.02408	GGA		PASS	0.542	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		68	133	68	133	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7011410	7011410	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:7011410C>A	ENST00000389658.3	-	25	3669	c.3576G>T	c.(3574-3576)gaG>gaT	p.E1192D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1192	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1192D(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGTAAACCCCCTCGGTCGTGC	0.607																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3574-3576)GAG>GAT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						29.0	29.0	29.0					18																	7011410		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7011410C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3576G>T	18.37:g.7011410C>A	ENSP00000374309:p.Glu1192Asp					LAMA1_uc010wzj.1_Missense_Mutation_p.E668D	p.E1192D	NM_005559	NP_005550	P25391	LAMA1_HUMAN			25	3670	-		Colorectal(10;0.172)	1192			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3576G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881945	0.33255	.	.	ENSG00000101680	ENST00000389658	T	0.18338	2.22	5.87	3.05	0.35203	Laminin B type IV (1);	0.329441	0.28583	N	0.014839	T	0.11707	0.0285	L	0.46157	1.445	0.29733	N	0.837699	B	0.14012	0.009	B	0.12156	0.007	T	0.22103	-1.0226	10	0.15066	T	0.55	.	3.7622	0.08609	0.2903:0.4561:0.0:0.2536	.	1192	P25391	LAMA1_HUMAN	D	1192	ENSP00000374309:E1192D	ENSP00000374309:E1192D	E	-	3	2	LAMA1	7001410	0.984000	0.35163	0.900000	0.35374	0.821000	0.46438	0.365000	0.20348	0.778000	0.33520	-0.195000	0.12781	GAG		PASS	0.607	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		10	12	10	12	---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14105676	14105676	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:14105676C>A	ENST00000590202.1	-	3	1015	c.863G>T	c.(862-864)gGa>gTa	p.G288V	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	288					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G288V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AGGTTTCTCTCCAGTATGAAT	0.368																																						uc002kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)GGA>GTA		zinc finger protein 519							49.0	54.0	52.0					18																	14105676		2203	4299	6502	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105676C>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.863G>T	18.37:g.14105676C>A	ENSP00000464872:p.Gly288Val					ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.G288V	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	1016	-			288						Missense_Mutation	SNP	ENST00000590202.1	37	c.863G>T	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393200	0.62066	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75953	0.3920	M	0.88906	2.99	0.50813	D	0.999896	D	0.76494	0.999	P	0.62740	0.906	T	0.76449	-0.2955	8	0.87932	D	0	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	288	Q8TB69	ZN519_HUMAN	V	288	.	ENSP00000307908:G288V	G	-	2	0	ZNF519	14095676	0.225000	0.23685	0.948000	0.38648	0.507000	0.33981	2.108000	0.41854	0.661000	0.30985	0.089000	0.15464	GGA		PASS	0.368	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		52	77	52	77	---	---	---	---
KIAA1328	57536	broad.mit.edu	37	18	34647324	34647324	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:34647324G>A	ENST00000280020.5	+	7	1070	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	KIAA1328_ENST00000543923.1_Missense_Mutation_p.G242R|KIAA1328_ENST00000586135.1_Missense_Mutation_p.G66R|KIAA1328_ENST00000591619.1_Missense_Mutation_p.G346R|KIAA1328_ENST00000586501.1_Missense_Mutation_p.G66R|KIAA1328_ENST00000435985.2_Missense_Mutation_p.G66R	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	350								p.G350R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GCATGGTGGTGGGGCACTGCA	0.453																																						uc002kzz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1048-1050)GGG>AGG		hypothetical protein LOC57536							72.0	68.0	70.0					18																	34647324		2009	4195	6204	SO:0001583	missense	57536							g.chr18:34647324G>A	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1048G>A	18.37:g.34647324G>A	ENSP00000280020:p.Gly350Arg					KIAA1328_uc002lab.2_Missense_Mutation_p.G66R|KIAA1328_uc002lac.1_Missense_Mutation_p.G173R|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.G66R	p.G350R	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	7	1070	+			350					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1048G>A	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.155729	0.00325	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.41758	0.99;0.99;0.99	6.17	-1.41	0.08941	.	0.821749	0.11001	N	0.610529	T	0.25827	0.0629	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.20671	0.001;0.002;0.047;0.002	B;B;B;B	0.20955	0.004;0.006;0.032;0.004	T	0.29274	-1.0017	10	0.15066	T	0.55	.	6.9989	0.24799	0.4905:0.2043:0.3052:0.0	.	66;350;66;350	Q86T90-4;A8K8C3;Q86T90-3;Q86T90	.;.;.;K1328_HUMAN	R	242;350;350;66	ENSP00000441359:G242R;ENSP00000280020:G350R;ENSP00000390515:G66R	ENSP00000280020:G350R	G	+	1	0	KIAA1328	32901322	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.389000	0.20751	-0.043000	0.13513	-0.345000	0.07892	GGG		PASS	0.453	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		18	22	18	22	---	---	---	---
SLC14A1	6563	broad.mit.edu	37	18	43310350	43310350	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:43310350T>A	ENST00000321925.4	+	3	297	c.65T>A	c.(64-66)gTt>gAt	p.V22D	SLC14A1_ENST00000589700.1_Missense_Mutation_p.V22D|SLC14A1_ENST00000436407.3_Missense_Mutation_p.V78D|SLC14A1_ENST00000586142.1_Missense_Mutation_p.V22D|SLC14A1_ENST00000535474.1_Intron|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.V78D|SLC14A1_ENST00000591943.1_3'UTR|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000502059.2_Intron	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	22					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.V78D(1)|p.V22D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GAAAACCAGGTTTCGCCATGT	0.507																																						uc010xcn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(64-66)GTT>GAT		solute carrier family 14 (urea transporter),							127.0	108.0	115.0					18																	43310350		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43310350T>A	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.65T>A	18.37:g.43310350T>A	ENSP00000318546:p.Val22Asp					SLC14A1_uc010dnk.2_Missense_Mutation_p.V78D|SLC14A1_uc002lbf.3_Missense_Mutation_p.V22D|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.V78D|SLC14A1_uc002lbk.3_Missense_Mutation_p.V22D	p.V22D	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			4	384	+			22					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.65T>A	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	T	7.745	0.702084	0.15172	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000436407	T;T;T	0.46063	0.95;0.88;0.88	5.11	-10.2	0.00374	.	2.992820	0.00851	N	0.001829	T	0.15739	0.0379	N	0.04508	-0.205	0.09310	N	1	B;B	0.30973	0.302;0.001	B;B	0.24701	0.055;0.004	T	0.10200	-1.0640	10	0.30078	T	0.28	-22.9929	6.2093	0.20619	0.0914:0.2691:0.5001:0.1394	.	78;22	Q13336-2;Q13336	.;UT1_HUMAN	D	22;78;78	ENSP00000318546:V22D;ENSP00000412309:V78D;ENSP00000390637:V78D	ENSP00000318546:V22D	V	+	2	0	SLC14A1	41564348	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.394000	0.02518	-1.740000	0.01345	-0.313000	0.08912	GTT		PASS	0.507	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		9	100	9	100	---	---	---	---
SLC14A1	6563	broad.mit.edu	37	18	43329813	43329813	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:43329813A>G	ENST00000321925.4	+	10	1299	c.1067A>G	c.(1066-1068)aAt>aGt	p.N356S	SLC14A1_ENST00000589700.1_3'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.N412S|SLC14A1_ENST00000586142.1_Missense_Mutation_p.N356S|SLC14A1_ENST00000535474.1_Missense_Mutation_p.N224S|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.N412S|SLC14A1_ENST00000402943.2_Missense_Mutation_p.N251S|SLC14A1_ENST00000591541.1_Missense_Mutation_p.N60S|SLC14A1_ENST00000502059.2_Missense_Mutation_p.N248S	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	356					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.N356S(1)|p.N412S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ACCACAAAAAATTCCAACATC	0.468																																						uc010xcn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(1066-1068)AAT>AGT		solute carrier family 14 (urea transporter),							145.0	135.0	139.0					18																	43329813		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43329813A>G	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.1067A>G	18.37:g.43329813A>G	ENSP00000318546:p.Asn356Ser					SLC14A1_uc010dnk.2_Missense_Mutation_p.N412S|SLC14A1_uc002lbf.3_Missense_Mutation_p.N356S|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.N251S|SLC14A1_uc002lbh.3_Missense_Mutation_p.N248S|SLC14A1_uc002lbi.3_Missense_Mutation_p.N224S|SLC14A1_uc002lbj.3_Missense_Mutation_p.N412S|SLC14A1_uc002lbk.3_Missense_Mutation_p.N356S	p.N356S	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			11	1386	+			356					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.1067A>G	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.363184	0.24684	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.19	5.19	0.71726	.	0.137056	0.47455	D	0.000224	T	0.64929	0.2643	M	0.91354	3.2	0.38804	D	0.955261	D;B;B	0.65815	0.995;0.242;0.418	P;B;B	0.50405	0.64;0.101;0.223	T	0.75249	-0.3384	10	0.49607	T	0.09	-23.8326	13.293	0.60282	1.0:0.0:0.0:0.0	.	412;248;356	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	S	356;412;248;251;224;412	ENSP00000318546:N356S;ENSP00000412309:N412S;ENSP00000442180:N248S;ENSP00000385320:N251S;ENSP00000441998:N224S;ENSP00000390637:N412S	ENSP00000318546:N356S	N	+	2	0	SLC14A1	41583811	0.998000	0.40836	0.830000	0.32933	0.125000	0.20455	4.100000	0.57762	2.068000	0.61886	0.482000	0.46254	AAT		PASS	0.468	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		5	173	5	173	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56202301	56202301	+	Silent	SNP	C	C	G	rs372855790		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:56202301C>G	ENST00000361673.3	-	5	5331	c.5118G>C	c.(5116-5118)acG>acC	p.T1706T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1706						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T1706T(1)|p.T1067T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTCTGACCCCGTCACTGCTG	0.572																																						uc002lhj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(5116-5118)ACG>ACC		heart alpha-kinase							83.0	82.0	82.0					18																	56202301		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202301C>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5118G>C	18.37:g.56202301C>G						ALPK2_uc002lhk.1_Silent_p.T1037T	p.T1706T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	5332	-			1706					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.5118G>C	CCDS11966.2																																																																																				PASS	0.572	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		72	102	72	102	---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61570215	61570215	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:61570215C>G	ENST00000299502.4	+	8	1004	c.924C>G	c.(922-924)taC>taG	p.Y308*	SERPINB2_ENST00000457692.1_Nonsense_Mutation_p.Y308*	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	308					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y308*(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TTGAGGTATACATACCCCAGT	0.428																																						uc010xeu.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|skin(1)	2						c.(922-924)TAC>TAG		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						89.0	85.0	86.0					18																	61570215		2203	4300	6503	SO:0001587	stop_gained	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570215C>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.924C>G	18.37:g.61570215C>G	ENSP00000299502:p.Tyr308*					SERPINB2_uc002ljo.2_Nonsense_Mutation_p.Y308*|SERPINB2_uc010dqh.2_Nonsense_Mutation_p.Y238*|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	p.Y308*	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			9	1257	+		Esophageal squamous(42;0.131)	308					Q96E96	Nonsense_Mutation	SNP	ENST00000299502.4	37	c.924C>G	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851624	0.71719	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	.	.	.	5.42	-0.967	0.10316	.	0.678857	0.15954	N	0.236598	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5948	0.28041	0.1023:0.5691:0.0:0.3286	.	.	.	.	X	308	.	ENSP00000299502:Y308X	Y	+	3	2	SERPINB2	59721195	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-1.731000	0.01853	-0.743000	0.04784	-1.151000	0.01829	TAC		PASS	0.428	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		26	53	26	53	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63477136	63477136	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr18:63477136A>G	ENST00000397968.2	+	3	833	c.407A>G	c.(406-408)gAg>gGg	p.E136G	CDH7_ENST00000323011.3_Missense_Mutation_p.E136G|CDH7_ENST00000536984.2_Missense_Mutation_p.E136G	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	136	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E136G(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTGGAGCCCGAGTCGGAGTTT	0.522																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(406-408)GAG>GGG		cadherin 7, type 2 preproprotein							72.0	71.0	72.0					18																	63477136		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477136A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.407A>G	18.37:g.63477136A>G	ENSP00000381058:p.Glu136Gly					CDH7_uc002lka.2_Missense_Mutation_p.E136G|CDH7_uc002lkb.2_Missense_Mutation_p.E136G	p.E136G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			3	732	+		Esophageal squamous(42;0.129)	136			Extracellular (Potential).|Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.407A>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950701	0.73787	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.54866	0.55;0.55;0.55	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.117108	0.56097	D	0.000022	T	0.76637	0.4015	M	0.92077	3.27	0.50813	D	0.999898	D;P	0.65815	0.995;0.916	P;P	0.59825	0.864;0.634	T	0.82853	-0.0252	10	0.66056	D	0.02	.	16.2193	0.82247	1.0:0.0:0.0:0.0	.	136;136	F5H5X9;Q9ULB5	.;CADH7_HUMAN	G	136	ENSP00000319166:E136G;ENSP00000443030:E136G;ENSP00000381058:E136G	ENSP00000319166:E136G	E	+	2	0	CDH7	61628116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.916000	0.56416	2.234000	0.73211	0.528000	0.53228	GAG		PASS	0.522	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		80	107	80	107	---	---	---	---
ARRDC5	645432	broad.mit.edu	37	19	4891305	4891305	+	Missense_Mutation	SNP	C	C	G	rs372471289		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:4891305C>G	ENST00000381781.2	-	3	781	c.782G>C	c.(781-783)cGc>cCc	p.R261P	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	261								p.R261P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GGTGTTGAAGCGGGTCACGGG	0.627																																						uc002mbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)CGC>CCC		arrestin domain containing 5							81.0	94.0	90.0					19																	4891305		2107	4215	6322	SO:0001583	missense	645432				signal transduction			g.chr19:4891305C>G		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.782G>C	19.37:g.4891305C>G	ENSP00000371200:p.Arg261Pro						p.R261P	NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	782	-			261						Missense_Mutation	SNP	ENST00000381781.2	37	c.782G>C	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	2.725	-0.265744	0.05754	.	.	ENSG00000205784	ENST00000381781	T	0.15017	2.46	4.91	3.87	0.44632	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.677726	0.12981	N	0.423254	T	0.07863	0.0197	N	0.04508	-0.205	0.24325	N	0.995022	B	0.02656	0.0	B	0.04013	0.001	T	0.31861	-0.9928	10	0.25751	T	0.34	-15.8386	8.7275	0.34478	0.0:0.1734:0.6631:0.1636	.	261	A6NEK1	ARRD5_HUMAN	P	261	ENSP00000371200:R261P	ENSP00000371200:R261P	R	-	2	0	ARRDC5	4842305	0.978000	0.34361	0.786000	0.31890	0.009000	0.06853	2.351000	0.44071	1.385000	0.46445	-0.171000	0.13296	CGC		PASS	0.627	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		19	97	19	97	---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5212481	5212481	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:5212481C>T	ENST00000587303.1	-	30	4735	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K	PTPRS_ENST00000588012.1_Missense_Mutation_p.E1508K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1099K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1546K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1099K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1526K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1547K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1508K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1546	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.			E -> D (in Ref. 6; AAB21146). {ECO:0000305}.	cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1546K(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGGCGGACCTCGCGTTTCTCA	0.617																																						uc002mbv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(4636-4638)GAG>AAG		protein tyrosine phosphatase, receptor type,							51.0	44.0	46.0					19																	5212481		2202	4294	6496	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5212481C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4636G>A	19.37:g.5212481C>T	ENSP00000467537:p.Glu1546Lys					PTPRS_uc002mbu.1_Missense_Mutation_p.E1115K|PTPRS_uc010xin.1_Missense_Mutation_p.E1088K|PTPRS_uc002mbw.2_Missense_Mutation_p.E1508K|PTPRS_uc002mbx.2_Missense_Mutation_p.E1103K|PTPRS_uc002mby.2_Missense_Mutation_p.E1099K	p.E1546K	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	31	4870	-			1546	E -> D (in Ref. 6; AAB21146).		Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4636G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664657	0.67700	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	2.86	2.86	0.33363	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.079374	0.49305	U	0.000143	T	0.46288	0.1385	L	0.52266	1.64	0.80722	D	1	P;P;D;D;D;D	0.89917	0.795;0.827;1.0;0.986;0.996;1.0	B;B;D;B;P;D	0.66497	0.183;0.124;0.928;0.197;0.768;0.944	T	0.51702	-0.8672	10	0.66056	D	0.02	.	14.1523	0.65395	0.0:1.0:0.0:0.0	.	1128;1099;1103;1508;1546;1141	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	1141;1547;1546;1546;1537;1526;1508;1128;1103;1099	ENSP00000361489:E1547K;ENSP00000349932:E1546K;ENSP00000262963:E1526K;ENSP00000269907:E1508K;ENSP00000327313:E1099K	ENSP00000262963:E1526K	E	-	1	0	PTPRS	5163481	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	7.480000	0.81109	1.610000	0.50200	0.549000	0.68633	GAG		PASS	0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			6	4	6	4	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6919585	6919585	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:6919585T>A	ENST00000312053.4	+	13	1484	c.1447T>A	c.(1447-1449)Ttt>Att	p.F483I	EMR1_ENST00000250572.8_Missense_Mutation_p.F483I|EMR1_ENST00000381404.4_Missense_Mutation_p.F431I|EMR1_ENST00000450315.3_Missense_Mutation_p.F306I|EMR1_ENST00000381407.5_Missense_Mutation_p.F342I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	483	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F483I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTTTGTCTCCTTTGTGGGCAT	0.453																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1447-1449)TTT>ATT		egf-like module containing, mucin-like, hormone							126.0	117.0	120.0					19																	6919585		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6919585T>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1447T>A	19.37:g.6919585T>A	ENSP00000311545:p.Phe483Ile					EMR1_uc010dvc.2_Missense_Mutation_p.F483I|EMR1_uc010dvb.2_Missense_Mutation_p.F431I|EMR1_uc010xji.1_Missense_Mutation_p.F342I|EMR1_uc010xjj.1_Missense_Mutation_p.F306I	p.F483I	NM_001974	NP_001965	Q14246	EMR1_HUMAN			13	1485	+	all_hematologic(4;0.166)		483			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1447T>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132597	0.37630	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77750	-1.07;-1.1;-1.12;0.07;0.4	3.99	3.99	0.46301	.	.	.	.	.	D	0.85673	0.5751	M	0.74881	2.28	0.33622	D	0.604949	P;P;D;P;D	0.89917	0.937;0.936;1.0;0.92;0.999	P;P;D;P;D	0.83275	0.715;0.55;0.996;0.468;0.941	D	0.88303	0.2951	9	0.52906	T	0.07	.	9.4468	0.38701	0.0:0.0:0.0:1.0	.	306;342;483;431;483	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	I	483;483;431;483;342;306	ENSP00000311545:F483I;ENSP00000370811:F431I;ENSP00000250572:F483I;ENSP00000370814:F342I;ENSP00000405974:F306I	ENSP00000250572:F483I	F	+	1	0	EMR1	6870585	0.996000	0.38824	0.979000	0.43373	0.348000	0.29142	1.320000	0.33666	1.802000	0.52723	0.402000	0.26972	TTT		PASS	0.453	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			45	105	45	105	---	---	---	---
CLEC4M	10332	broad.mit.edu	37	19	7830087	7830088	+	Missense_Mutation	DNP	CG	CG	TC	rs539558959|rs370560578	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:7830087_7830088CG>TC	ENST00000327325.5	+	3	265_266	c.147_148CG>TC	c.(145-150)ggCGcc>ggTCcc	p.A50P	CLEC4M_ENST00000248228.4_Missense_Mutation_p.A50P|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A22P|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A50P|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A22P|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A42P|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A50P|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000359059.5_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	50					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.G49G(2)|p.A50P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TTGGCCATGGCGCCCTGGTGCT	0.634																																						uc002mih.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(3)|large_intestine(1)	pancreas(1)	1						c.(145-147)GGC>GGT|c.(148-150)GCC>CCC		C-type lectin domain family 4, member M isoform																																				SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7830087C>T|g.chr19:7830088G>C	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		Exception_encountered	19.37:g.7830087_7830088delinsTC	ENSP00000316228:p.Ala50Pro					CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Silent_p.G49G|CLEC4M_uc010dvs.2_Silent_p.G48G|CLEC4M_uc010xjx.1_Silent_p.G21G|CLEC4M_uc002mhz.2_Silent_p.G49G|CLEC4M_uc002mic.2_Silent_p.G21G|CLEC4M_uc002mia.2_Intron|CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Missense_Mutation_p.A50P|CLEC4M_uc010dvs.2_Missense_Mutation_p.A49P|CLEC4M_uc010xjx.1_Missense_Mutation_p.A22P|CLEC4M_uc002mhz.2_Missense_Mutation_p.A50P|CLEC4M_uc002mic.2_Missense_Mutation_p.A22P|CLEC4M_uc002mia.2_Intron	p.G49G|p.A50P	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			3	265|266	+			49|50			Cytoplasmic (Probable).|Helical; Signal-anchor for type II membrane protein; (Probable).		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent|Missense_Mutation	SNP	ENST00000327325.5	37	c.147C>T|c.148G>C	CCDS12187.1																																																																																				PASS	0.634	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		61	94|98	61	94	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9067600	9067600	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:9067600G>C	ENST00000397910.4	-	3	20049	c.19846C>G	c.(19846-19848)Cca>Gca	p.P6616A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6618	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.P6616A(2)|p.P2249A(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						ACTTTGGGTGGTTCTGAGTAG	0.448																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19846-19848)CCA>GCA		mucin 16							207.0	190.0	196.0					19																	9067600		1953	4145	6098	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067600G>C	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.19846C>G	19.37:g.9067600G>C	ENSP00000381008:p.Pro6616Ala						p.P6616A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20050	-			6618			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19846C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.723	-0.266125	0.05754	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	2.36	-4.72	0.03269	.	.	.	.	.	T	0.13286	0.0322	N	0.19112	0.55	.	.	.	P	0.35481	0.504	B	0.36885	0.235	T	0.22730	-1.0208	8	0.87932	D	0	.	3.6945	0.08358	0.5138:0.0:0.3042:0.1819	.	6616	B5ME49	.	A	6616	ENSP00000381008:P6616A	ENSP00000381008:P6616A	P	-	1	0	MUC16	8928600	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-2.872000	0.00720	-1.062000	0.03181	0.154000	0.16183	CCA		PASS	0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		127	154	127	154	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071212	9071212	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:9071212T>A	ENST00000397910.4	-	3	16437	c.16234A>T	c.(16234-16236)Aca>Tca	p.T5412S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5414	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.T5412S(2)|p.T1045S(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						GCGGCTTCTGTGTGTGCAGTG	0.502																																						uc002mkp.2																			3	Substitution - Missense(3)	p.T5412K(1)	lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16234-16236)ACA>TCA		mucin 16							450.0	424.0	433.0					19																	9071212		2088	4230	6318	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071212T>A	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.16234A>T	19.37:g.9071212T>A	ENSP00000381008:p.Thr5412Ser						p.T5412S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16438	-			5414			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16234A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.362	0.252117	0.10185	.	.	ENSG00000181143	ENST00000397910	T	0.28666	1.6	2.2	-1.85	0.07784	.	.	.	.	.	T	0.19805	0.0476	L	0.32530	0.975	.	.	.	B	0.20052	0.041	B	0.23574	0.047	T	0.26985	-1.0087	8	0.87932	D	0	.	3.718	0.08445	0.2192:0.0:0.4458:0.3349	.	5412	B5ME49	.	S	5412	ENSP00000381008:T5412S	ENSP00000381008:T5412S	T	-	1	0	MUC16	8932212	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.362000	0.07602	-0.573000	0.05998	0.260000	0.18958	ACA		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		306	323	306	323	---	---	---	---
KANK2	25959	broad.mit.edu	37	19	11287340	11287340	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:11287340G>T	ENST00000586659.1	-	7	1988	c.1674C>A	c.(1672-1674)agC>agA	p.S558R	KANK2_ENST00000589359.1_Missense_Mutation_p.S566R|KANK2_ENST00000355150.5_Missense_Mutation_p.S558R|KANK2_ENST00000589894.1_Missense_Mutation_p.S558R|KANK2_ENST00000432929.2_Missense_Mutation_p.S566R			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	558					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.S558R(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTCCTGCCGGCTGGTCTTGG	0.627																																						uc010dxv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1672-1674)AGC>AGA		ankyrin repeat domain 25 isoform 1							98.0	96.0	97.0					19																	11287340		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11287340G>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1674C>A	19.37:g.11287340G>T	ENSP00000465650:p.Ser558Arg					KANK2_uc002mqm.2_Missense_Mutation_p.S566R|KANK2_uc002mqo.3_Missense_Mutation_p.S558R|KANK2_uc002mqp.1_Missense_Mutation_p.S367R	p.S558R	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			9	2232	-			558					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.1674C>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	G	7.390	0.630552	0.14322	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39229	1.09;1.1	5.61	1.06	0.20224	.	1.392810	0.04159	N	0.322683	T	0.37625	0.1010	L	0.39898	1.24	0.09310	N	1	B;P	0.40875	0.089;0.731	B;B	0.41088	0.032;0.347	T	0.30504	-0.9976	10	0.27082	T	0.32	-9.7518	8.7474	0.34594	0.3334:0.0:0.6666:0.0	.	558;566	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	R	566;558	ENSP00000395650:S566R;ENSP00000347276:S558R	ENSP00000347276:S558R	S	-	3	2	KANK2	11148340	0.004000	0.15560	0.043000	0.18650	0.046000	0.14306	0.137000	0.15995	0.312000	0.23038	0.462000	0.41574	AGC		PASS	0.627	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		59	158	59	158	---	---	---	---
RLN3	117579	broad.mit.edu	37	19	14139032	14139032	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:14139032C>A	ENST00000431365.2	+	1	73	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	RLN3_ENST00000585987.1_Missense_Mutation_p.L6M|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	6						extracellular region (GO:0005576)		p.L6M(1)		endometrium(1)|lung(4)	5						CAGGTACATGCTGCTGCTGCT	0.637																																						uc002mxw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CTG>ATG		relaxin 3 preproprotein							42.0	41.0	41.0					19																	14139032		2203	4300	6503	SO:0001583	missense	117579					extracellular region	hormone activity	g.chr19:14139032C>A	AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"""Endogenous ligands"""	17135	protein-coding gene	gene with protein product	"""prorelaxin H3"""	606855	"""relaxin 3 (H3)"""				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.16C>A	19.37:g.14139032C>A	ENSP00000397415:p.Leu6Met					RLN3_uc010dzj.1_Missense_Mutation_p.L6M	p.L6M	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN			1	16	+			6					Q6UXW5	Missense_Mutation	SNP	ENST00000431365.2	37	c.16C>A	CCDS12302.1	.	.	.	.	.	.	.	.	.	.	C	5.546	0.285691	0.10513	.	.	ENSG00000171136	ENST00000431365	T	0.12879	2.64	4.27	1.99	0.26369	Insulin-like (1);	1.002150	0.08044	N	0.995561	T	0.09202	0.0227	N	0.24115	0.695	0.09310	N	1	B;B	0.30914	0.3;0.147	B;B	0.29077	0.098;0.055	T	0.37079	-0.9721	10	0.45353	T	0.12	-2.9598	5.1978	0.15246	0.0:0.4555:0.3661:0.1784	.	6;6	B2RU28;Q8WXF3	.;REL3_HUMAN	M	6	ENSP00000397415:L6M	ENSP00000397415:L6M	L	+	1	2	RLN3	14000032	0.976000	0.34144	0.140000	0.22221	0.021000	0.10359	0.477000	0.22196	0.327000	0.23409	0.491000	0.48974	CTG		PASS	0.637	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1			17	72	17	72	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15806829	15806829	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:15806829G>T	ENST00000550308.1	+	10	1579	c.1199G>T	c.(1198-1200)cGa>cTa	p.R400L	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R400L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	400					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R400L(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TTCATCTCCCGATGCTGCACC	0.612																																						uc002nbl.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1198-1200)CGA>CTA		cytochrome P450, family 4, subfamily F,							93.0	91.0	92.0					19																	15806829		2203	4300	6503	SO:0001583	missense	66002							g.chr19:15806829G>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1199G>T	19.37:g.15806829G>T	ENSP00000448998:p.Arg400Leu						p.R400L	NM_023944	NP_076433					10	1260	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1199G>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.941877	0.53079	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.89343	-2.5;-2.5	2.41	2.41	0.29592	.	0.000000	0.64402	U	0.000004	D	0.95962	0.8685	H	0.98005	4.125	0.22253	N	0.999256	D	0.76494	0.999	D	0.81914	0.995	D	0.88406	0.3018	10	0.87932	D	0	.	10.9311	0.47217	0.0:0.0:1.0:0.0	.	400	Q9HCS2	CP4FC_HUMAN	L	400	ENSP00000448998:R400L;ENSP00000321821:R400L	ENSP00000321821:R400L	R	+	2	0	CYP4F12	15667829	0.945000	0.32115	0.007000	0.13788	0.094000	0.18550	5.498000	0.66931	1.657000	0.50732	0.313000	0.20887	CGA		PASS	0.612	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			28	107	28	107	---	---	---	---
OR10H5	284433	broad.mit.edu	37	19	15905405	15905405	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:15905405C>T	ENST00000308940.8	+	1	645	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCACGTGCCACCTCTGTTGAA	0.577																																						uc010xos.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(547-549)CCT>TCT		olfactory receptor, family 10, subfamily H,							177.0	141.0	153.0					19																	15905405		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905405C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.547C>T	19.37:g.15905405C>T	ENSP00000310704:p.Pro183Ser						p.P183S	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	547	+			183			Extracellular (Potential).		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.547C>T	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	3.316	-0.139797	0.06669	.	.	ENSG00000172519	ENST00000308940	T	0.00202	8.56	3.36	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.00144	0.0004	L	0.42529	1.33	0.09310	N	1	B	0.23735	0.09	B	0.26517	0.07	T	0.42155	-0.9468	10	0.56958	D	0.05	.	5.1252	0.14880	0.0:0.606:0.1521:0.2419	.	183	Q8NGA6	O10H5_HUMAN	S	183	ENSP00000310704:P183S	ENSP00000310704:P183S	P	+	1	0	OR10H5	15766405	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.018000	0.13422	-0.325000	0.08577	0.585000	0.79938	CCT		PASS	0.577	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			38	82	38	82	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807714	20807714	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:20807714C>A	ENST00000601440.1	-	4	1115	c.969G>T	c.(967-969)aaG>aaT	p.K323N	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	323					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.K323N(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATAGGAGTACTTAAAGGCTT	0.388																																						uc002npb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(967-969)AAG>AAT		zinc finger protein 626 isoform 1							121.0	133.0	129.0					19																	20807714		2164	4285	6449	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807714C>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.969G>T	19.37:g.20807714C>A	ENSP00000469958:p.Lys323Asn					ZNF626_uc002npc.1_Missense_Mutation_p.K247N	p.K323N	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1119	-			323			C2H2-type 6.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.969G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.522597	0.00010	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.865	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	L	0.43554	1.36	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.37934	-0.9684	8	0.02654	T	1	.	0.1463	0.00088	0.2485:0.2569:0.2478:0.2467	.	323	Q68DY1	ZN626_HUMAN	N	323;247;323	.	ENSP00000445201:K323N	K	-	3	2	ZNF626	20599554	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-6.316000	0.00071	-0.956000	0.03631	-0.957000	0.02645	AAG		PASS	0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		33	105	33	105	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22256295	22256295	+	Missense_Mutation	SNP	T	T	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:22256295T>G	ENST00000594947.1	+	3	299	c.155T>G	c.(154-156)cTg>cGg	p.L52R	ZNF257_ENST00000600162.1_Missense_Mutation_p.L52R	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L52R(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCCAGACCTGATCACCTGT	0.418																																						uc010ecx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CTG>CGG		zinc finger protein 257							133.0	147.0	142.0					19																	22256295		2203	4300	6503	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22256295T>G	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.155T>G	19.37:g.22256295T>G	ENSP00000470209:p.Leu52Arg					ZNF257_uc010ecy.2_Missense_Mutation_p.L20R	p.L52R	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			3	324	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	52			KRAB.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.155T>G	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.526252	0.27299	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	0.86	0.19042	Krueppel-associated box (3);	.	.	.	.	T	0.54759	0.1878	M	0.81179	2.53	0.09310	N	1	P	0.52170	0.951	P	0.57776	0.827	T	0.44528	-0.9322	8	0.87932	D	0	.	3.8614	0.08998	0.0:0.0:0.0:1.0	.	52	Q9Y2Q1	ZN257_HUMAN	R	52	.	ENSP00000380312:L52R	L	+	2	0	ZNF257	22048135	0.003000	0.15002	0.141000	0.22245	0.141000	0.21300	1.422000	0.34826	0.257000	0.21650	0.254000	0.18369	CTG		PASS	0.418	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			33	120	33	120	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23837199	23837199	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:23837199C>G	ENST00000359788.4	-	4	704	c.536G>C	c.(535-537)aGa>aCa	p.R179T	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	179					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R179T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GCAAAATGATCTGCCACATTC	0.299																																						uc002nri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(535-537)AGA>ACA		zinc finger protein 675							58.0	56.0	57.0					19																	23837199		2202	4296	6498	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837199C>G		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.536G>C	19.37:g.23837199C>G	ENSP00000352836:p.Arg179Thr						p.R179T	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	718	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	179			C2H2-type 2; degenerate.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.536G>C	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	5.654	0.305330	0.10678	.	.	ENSG00000197372	ENST00000359788	T	0.54479	0.57	0.916	-1.51	0.08664	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43545	0.1252	L	0.59436	1.845	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.38112	-0.9676	9	0.87932	D	0	.	5.0707	0.14606	0.0:0.4056:0.0:0.5944	.	179	Q8TD23	ZN675_HUMAN	T	179	ENSP00000352836:R179T	ENSP00000352836:R179T	R	-	2	0	ZNF675	23629039	0.009000	0.17119	0.018000	0.16275	0.018000	0.09664	0.658000	0.24979	-0.945000	0.03681	-0.979000	0.02580	AGA		PASS	0.299	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		11	25	11	25	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34832958	34832958	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:34832958G>A	ENST00000299505.6	+	10	2992	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	707								p.A707T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGGCTGGGGCACACACACC	0.627																																						uc002nvd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2119-2121)GCA>ACA		hypothetical protein LOC9710							82.0	85.0	84.0					19																	34832958		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832958G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2119G>A	19.37:g.34832958G>A	ENSP00000299505:p.Ala707Thr						p.A707T	NM_014686	NP_055501	O15063	K0355_HUMAN			10	2978	+	Esophageal squamous(110;0.162)		707					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2119G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345345	0.41498	.	.	ENSG00000166398	ENST00000299505	T	0.19250	2.16	5.53	0.781	0.18561	.	0.548014	0.19528	N	0.112116	T	0.10165	0.0249	N	0.19112	0.55	0.31882	N	0.618365	B	0.02656	0.0	B	0.04013	0.001	T	0.10359	-1.0633	10	0.87932	D	0	-8.4863	1.0974	0.01676	0.2457:0.1204:0.4294:0.2045	.	707	O15063	K0355_HUMAN	T	707	ENSP00000299505:A707T	ENSP00000299505:A707T	A	+	1	0	KIAA0355	39524798	0.020000	0.18652	0.991000	0.47740	0.965000	0.64279	-0.103000	0.10940	0.305000	0.22832	0.655000	0.94253	GCA		PASS	0.627	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		74	78	74	78	---	---	---	---
HSPB6	126393	broad.mit.edu	37	19	36245219	36245219	+	IGR	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:36245219A>T	ENST00000592984.1	-	0	1634				AC002398.9_ENST00000591613.2_3'UTR|LIN37_ENST00000301159.9_Splice_Site_p.R220W|AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.R220W(1)		lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCCGCCAGAGGTGAGCGTC	0.632																																						uc002obm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)AGG>TGG		lin-37 homolog							68.0	73.0	72.0					19																	36245219		2108	4228	6336	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245219A>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245219A>T						uc002obl.2_5'Flank	p.R220W	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	772	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		220					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.658A>T	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876151	0.91664	.	.	ENSG00000188223	ENST00000301159	T	0.49432	0.78	5.7	5.7	0.88788	.	0.045629	0.85682	D	0.000000	T	0.62441	0.2428	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.65459	-0.6163	10	0.87932	D	0	-0.1445	13.4853	0.61361	1.0:0.0:0.0:0.0	.	220	Q96GY3	LIN37_HUMAN	W	220	ENSP00000301159:R220W	ENSP00000301159:R220W	R	+	1	2	LIN37	40937059	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.898000	0.63238	2.176000	0.68965	0.533000	0.62120	AGG		PASS	0.632	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		8	114	8	114	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36351927	36351927	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:36351927G>C	ENST00000360202.5	+	8	1243	c.1045G>C	c.(1045-1047)Ggt>Cgt	p.G349R	KIRREL2_ENST00000347900.6_Missense_Mutation_p.G299R|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G349R|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G349R	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	349	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.G349R(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCCGCCGCGGTGGCGCGCA	0.677																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1045-1047)GGT>CGT		kin of IRRE-like 2 isoform c							12.0	14.0	13.0					19																	36351927		2186	4262	6448	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351927G>C	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1045G>C	19.37:g.36351927G>C	ENSP00000353331:p.Gly349Arg					KIRREL2_uc002obz.3_Missense_Mutation_p.G349R|KIRREL2_uc002oca.3_Missense_Mutation_p.G299R|KIRREL2_uc002occ.3_Missense_Mutation_p.G296R|KIRREL2_uc002ocd.3_Missense_Mutation_p.G346R	p.G349R	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1257	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		349			Extracellular (Potential).|Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1045G>C	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.379515	0.82682	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.31769	1.48;1.48;1.48	4.5	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000171	T	0.53818	0.1820	M	0.78285	2.405	0.39885	D	0.973695	D;D;D;D;D	0.71674	0.988;0.985;0.996;0.998;0.997	D;P;D;D;D	0.69479	0.924;0.875;0.964;0.955;0.939	T	0.60969	-0.7157	10	0.72032	D	0.01	-18.143	12.6669	0.56848	0.0:0.0:1.0:0.0	.	349;329;349;299;349	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	R	349;299;349;329	ENSP00000262625:G349R;ENSP00000345067:G299R;ENSP00000353331:G349R	ENSP00000262625:G349R	G	+	1	0	KIRREL2	41043767	0.915000	0.31059	0.973000	0.42090	0.955000	0.61496	1.924000	0.40065	2.362000	0.80069	0.494000	0.49563	GGT		PASS	0.677	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		10	20	10	20	---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36940468	36940468	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:36940468C>G	ENST00000434377.2	-	5	749	c.668G>C	c.(667-669)gGc>gCc	p.G223A	ZNF566_ENST00000493391.1_Missense_Mutation_p.G119A|ZNF566_ENST00000392170.2_Missense_Mutation_p.G224A|ZNF566_ENST00000424129.2_Missense_Mutation_p.G223A|ZNF566_ENST00000454319.1_Missense_Mutation_p.G224A	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	223					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.G223A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GGGTTTCTTGCCAGTATGAAT	0.388																																						uc002oea.3																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GGC>GCC		zinc finger protein 566 isoform 1							78.0	79.0	79.0					19																	36940468		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940468C>G	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.668G>C	19.37:g.36940468C>G	ENSP00000415520:p.Gly223Ala					ZNF566_uc010xte.1_Missense_Mutation_p.G223A|ZNF566_uc010xtf.1_Missense_Mutation_p.G224A|ZNF566_uc002oeb.3_Missense_Mutation_p.G223A|ZNF566_uc002oec.3_Missense_Mutation_p.G119A|ZNF566_uc010xtg.1_Missense_Mutation_p.G119A	p.G223A	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	750	-	Esophageal squamous(110;0.162)		223					B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.668G>C	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914897	0.52546	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	3.98	2.84	0.33178	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000312	T	0.46328	0.1387	M	0.70842	2.15	0.32765	N	0.504538	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.58967	-0.7542	10	0.87932	D	0	.	10.7522	0.46216	0.1902:0.8098:0.0:0.0	.	224;223	B7ZL95;Q969W8	.;ZN566_HUMAN	A	224;223;224;223;223	ENSP00000394207:G224A;ENSP00000415520:G223A;ENSP00000376010:G224A;ENSP00000401259:G223A;ENSP00000411526:G223A	ENSP00000376010:G224A	G	-	2	0	ZNF566	41632308	0.182000	0.23173	1.000000	0.80357	0.998000	0.95712	0.781000	0.26774	2.233000	0.73108	0.555000	0.69702	GGC		PASS	0.388	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		32	89	32	89	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37130357	37130358	+	Missense_Mutation	DNP	CC	CC	TG	rs201010345		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:37130357_37130358CC>TG	ENST00000588268.1	-	6	1116_1117	c.889_890GG>CA	c.(889-891)GGt>CAt	p.G297H	ZNF461_ENST00000360357.4_Missense_Mutation_p.G274H|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	297					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.G170R(1)|p.G297R(1)|p.G297H(1)|p.G170H(1)|p.G297D(1)|p.G170D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGTTTCTCACCAGTGTGAATT	0.381																																						uc002oem.2																			6	Substitution - Missense(6)		lung(6)		0						c.(889-891)GGT>GAT|c.(889-891)GGT>CGT		gonadotropin inducible transcription repressor																																				SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130357C>T|g.chr19:37130358C>G	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.889_890delinsTG	19.37:g.37130357_37130358delinsTG	ENSP00000467931:p.Gly297His					ZNF461_uc002oen.2_Missense_Mutation_p.G266D|ZNF461_uc010xtj.1_Missense_Mutation_p.G274D|ZNF461_uc002oen.2_Missense_Mutation_p.G266R|ZNF461_uc010xtj.1_Missense_Mutation_p.G274R	p.G297D|p.G297R	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1118|1117	-	Esophageal squamous(110;0.198)		297					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.890G>A|c.889G>C	CCDS54257.1																																																																																				PASS	0.381	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		3	28	3	28	---	---	---	---
PAK4	10298	broad.mit.edu	37	19	39669214	39669214	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:39669214A>T	ENST00000593690.1	+	11	2198	c.1771A>T	c.(1771-1773)Aga>Tga	p.R591*	PAK4_ENST00000358301.3_Nonsense_Mutation_p.R591*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.R501*|PAK4_ENST00000599386.1_Nonsense_Mutation_p.R438*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.R438*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.R591*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.R591*	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	591					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R591*(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GAACCGCACCAGATGAGGCCC	0.716																																						uc002okj.1																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(1)	4						c.(1771-1773)AGA>TGA		p21-activated kinase 4 isoform 1							21.0	23.0	22.0					19																	39669214		2202	4295	6497	SO:0001587	stop_gained	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39669214A>T	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1771A>T	19.37:g.39669214A>T	ENSP00000469413:p.Arg591*					PAK4_uc002okl.1_Nonsense_Mutation_p.R591*|PAK4_uc002okn.1_Nonsense_Mutation_p.R591*|PAK4_uc002okm.1_Nonsense_Mutation_p.R438*|PAK4_uc002oko.1_Nonsense_Mutation_p.R438*|PAK4_uc002okp.1_Nonsense_Mutation_p.R501*	p.R591*	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		11	2232	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		591					B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Nonsense_Mutation	SNP	ENST00000593690.1	37	c.1771A>T	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	A	37	6.487944	0.97607	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	.	.	.	4.46	0.823	0.18812	.	0.057595	0.64402	D	0.000003	.	.	.	.	.	.	0.41445	D	0.98794	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0364	0.58875	0.304:0.696:0.0:0.0	.	.	.	.	X	591;438;395;347;591;591	.	ENSP00000326864:R438X	R	+	1	2	PAK4	44361054	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	3.002000	0.49496	-0.093000	0.12396	0.374000	0.22700	AGA		PASS	0.716	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			28	31	28	31	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40903374	40903374	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:40903374C>A	ENST00000324001.7	-	7	1155	c.885G>T	c.(883-885)gtG>gtT	p.V295V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	295					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V295V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGCAGCTCCACCTGGGGGA	0.687																																						uc002onr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(883-885)GTG>GTT		periaxin isoform 2							5.0	5.0	5.0					19																	40903374		2033	4049	6082	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903374C>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.885G>T	19.37:g.40903374C>A						PRX_uc002onq.2_Silent_p.V156V|PRX_uc002ons.2_3'UTR	p.V295V	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1154	-			295					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.885G>T	CCDS33028.1																																																																																				PASS	0.687	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	9	9	9	---	---	---	---
MIA	8190	broad.mit.edu	37	19	41281517	41281517	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:41281517G>T	ENST00000263369.3	+	1	236	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.G24C|MIA_ENST00000597784.1_Missense_Mutation_p.G24C|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000594436.1_Missense_Mutation_p.G24C|RAB4B_ENST00000594800.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	24					cell proliferation (GO:0008283)	extracellular space (GO:0005615)		p.G24C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TGGTGTCAGGGGTGGTCCTAT	0.612																																						uc002opb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)GGT>TGT		melanoma inhibitory activity precursor							142.0	117.0	126.0					19																	41281517		2203	4300	6503	SO:0001583	missense	8190				cell proliferation	extracellular space	growth factor activity	g.chr19:41281517G>T	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.70G>T	19.37:g.41281517G>T	ENSP00000263369:p.Gly24Cys					MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_5'Flank|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank	p.G24C	NM_006533	NP_006524	Q16674	MIA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)	1	218	+			24					Q6FHV3	Missense_Mutation	SNP	ENST00000263369.3	37	c.70G>T	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	G	8.192	0.796202	0.16327	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.48522	0.81	4.17	4.17	0.49024	.	0.076831	0.51477	U	0.000091	T	0.65333	0.2681	M	0.72118	2.19	0.19300	N	0.999976	D	0.76494	0.999	D	0.66847	0.947	T	0.59172	-0.7504	10	0.72032	D	0.01	-40.8865	14.372	0.66846	0.0:0.0:1.0:0.0	.	24	Q16674	MIA_HUMAN	C	24	ENSP00000263369:G24C	ENSP00000263369:G24C	G	+	1	0	RAB4B	45973357	0.462000	0.25791	0.008000	0.14137	0.050000	0.14768	3.031000	0.49728	2.314000	0.78098	0.561000	0.74099	GGT		PASS	0.612	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			109	103	109	103	---	---	---	---
CEACAM21	90273	broad.mit.edu	37	19	42085842	42085842	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:42085842G>A	ENST00000401445.2	+	3	587	c.561G>A	c.(559-561)acG>acA	p.T187T	CEACAM21_ENST00000407170.2_Silent_p.T59T|CEACAM21_ENST00000187608.9_Silent_p.T187T|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	187	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.T187T(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TGCAGGTCACGAAGAGGATGA	0.532																																						uc002ore.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(559-561)ACG>ACA		carcinoembryonic antigen-related cell adhesion							54.0	53.0	53.0					19																	42085842		2046	4198	6244	SO:0001819	synonymous_variant	90273					integral to membrane		g.chr19:42085842G>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.561G>A	19.37:g.42085842G>A						CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Silent_p.T187T	p.T187T	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			3	657	+			187			Ig-like C2-type.|Extracellular (Potential).		B7WNQ6|O75296|Q6UY47|Q96ER7	Silent	SNP	ENST00000401445.2	37	c.561G>A	CCDS46086.1																																																																																				PASS	0.532	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		15	36	15	36	---	---	---	---
LIPE	3991	broad.mit.edu	37	19	42911519	42911519	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:42911519C>A	ENST00000244289.4	-	6	2220	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	648					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.V648V(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CGTGGAAGTGCACTATCAGGG	0.662																																						uc002otr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1942-1944)GTG>GTT		hormone-sensitive lipase							26.0	27.0	27.0					19																	42911519		2201	4299	6500	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42911519C>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1944G>T	19.37:g.42911519C>A						uc010eif.1_Intron	p.V648V	NM_005357	NP_005348	Q05469	LIPS_HUMAN			6	2221	-		Prostate(69;0.00682)	648					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1944G>T	CCDS12607.1																																																																																				PASS	0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		13	29	13	29	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891866	44891866	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:44891866G>T	ENST00000330997.4	-	4	605	c.541C>A	c.(541-543)Cat>Aat	p.H181N	ZNF285_ENST00000544719.2_Missense_Mutation_p.H181N|ZNF285_ENST00000591679.1_Missense_Mutation_p.H188N|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	181					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.H181N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CTGTCATCATGCTGAGCACGT	0.468																																						uc002ozd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(541-543)CAT>AAT		zinc finger protein 285							117.0	116.0	116.0					19																	44891866		2203	4300	6503	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891866G>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.541C>A	19.37:g.44891866G>T	ENSP00000333595:p.His181Asn					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.H188N	p.H181N	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	628	-			181					Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.541C>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	0.470	-0.885071	0.02511	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05855	3.38	3.27	-1.94	0.07571	.	.	.	.	.	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.04013	0.001;0.001	T	0.40720	-0.9548	9	0.54805	T	0.06	.	4.5533	0.12124	0.4929:0.3123:0.1947:0.0	.	205;181	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	N	204;181	ENSP00000333595:H181N	ENSP00000333595:H181N	H	-	1	0	ZNF285	49583706	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.639000	0.05446	-0.671000	0.05274	-0.396000	0.06452	CAT		PASS	0.468	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		73	96	73	96	---	---	---	---
CEACAM19	56971	broad.mit.edu	37	19	45176160	45176160	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:45176160C>G	ENST00000403660.3	+	2	558	c.348C>G	c.(346-348)gaC>gaG	p.D116E	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.D116E|CEACAM19_ENST00000480278.1_3'UTR			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	116						integral component of membrane (GO:0016021)		p.D116E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				AGCCTACAGACAGTGGCACCT	0.567																																						uc002ozo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)GAC>GAG		carcinoembryonic antigen-related cell adhesion							81.0	65.0	71.0					19																	45176160		2203	4300	6503	SO:0001583	missense	56971					integral to membrane		g.chr19:45176160C>G	AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.348C>G	19.37:g.45176160C>G	ENSP00000384887:p.Asp116Glu					CEACAM19_uc002ozp.3_Missense_Mutation_p.D116E	p.D116E	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN			2	828	+	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)	116			Extracellular (Potential).		Q5XJ15|Q7Z693	Missense_Mutation	SNP	ENST00000403660.3	37	c.348C>G	CCDS12641.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457273	0.63401	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	D;D	0.87729	-2.29;-2.29	4.06	1.84	0.25277	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000502	D	0.92371	0.7579	M	0.86651	2.83	0.25091	N	0.990851	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.84243	0.0473	10	0.87932	D	0	-28.7418	6.7414	0.23439	0.0:0.7767:0.0:0.2233	.	116;116	Q5XJ15;Q7Z692	.;CEA19_HUMAN	E	116	ENSP00000351627:D116E;ENSP00000384887:D116E	ENSP00000351627:D116E	D	+	3	2	CEACAM19	49868000	1.000000	0.71417	0.884000	0.34674	0.947000	0.59692	1.259000	0.32956	0.360000	0.24265	0.555000	0.69702	GAC		PASS	0.567	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219		6	89	6	89	---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46825125	46825126	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:46825125_46825126GA>TT	ENST00000377670.4	+	10	1268_1269	c.1237_1238GA>TT	c.(1237-1239)GAc>TTc	p.D413F	HIF3A_ENST00000600383.1_Missense_Mutation_p.D344F|HIF3A_ENST00000244303.6_Missense_Mutation_p.D344F|HIF3A_ENST00000420102.2_Missense_Mutation_p.D362F|HIF3A_ENST00000472815.1_Missense_Mutation_p.D344F|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000339613.2_Missense_Mutation_p.D357F|HIF3A_ENST00000300862.3_Missense_Mutation_p.D411F	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	413					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D411F(1)|p.D411Y(1)|p.D411V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGCAGCCCTGACCTCCGTCGC	0.683																																						uc002peh.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1237-1239)GAC>TAC|c.(1237-1239)GAC>GTC		hypoxia inducible factor 3, alpha subunit																																				SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825125G>T|g.chr19:46825126A>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	Exception_encountered	19.37:g.46825125_46825126delinsTT	ENSP00000366898:p.Asp413Phe					HIF3A_uc002peg.3_Missense_Mutation_p.D413Y|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D357Y|HIF3A_uc002pej.1_Missense_Mutation_p.D344Y|HIF3A_uc002pek.2_Missense_Mutation_p.D357Y|HIF3A_uc010xxy.1_Missense_Mutation_p.D344Y|HIF3A_uc002pel.2_Missense_Mutation_p.D411Y|HIF3A_uc010xxz.1_Missense_Mutation_p.D362Y|HIF3A_uc002peg.3_Missense_Mutation_p.D413V|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D357V|HIF3A_uc002pej.1_Missense_Mutation_p.D344V|HIF3A_uc002pek.2_Missense_Mutation_p.D357V|HIF3A_uc010xxy.1_Missense_Mutation_p.D344V|HIF3A_uc002pel.2_Missense_Mutation_p.D411V|HIF3A_uc010xxz.1_Missense_Mutation_p.D362V	p.D413Y|p.D413V	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1266|1267	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	413					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1237G>T|c.1238A>T	CCDS12681.2																																																																																				PASS	0.683	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			45	63	45	63	---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49424479	49424479	+	Silent	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:49424479G>C	ENST00000405315.4	+	11	1405	c.1071G>C	c.(1069-1071)cgG>cgC	p.R357R	NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000263273.5_Silent_p.R357R|NUCB1_ENST00000407032.1_Silent_p.R357R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	357						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.R357R(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGGCTGCCCGGGAGGCAGAGC	0.667																																						uc002plb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1069-1071)CGG>CGC		nucleobindin 1 precursor							26.0	27.0	26.0					19																	49424479		2203	4299	6502	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49424479G>C	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1071G>C	19.37:g.49424479G>C						NUCB1_uc002pla.2_Silent_p.R357R|NUCB1_uc002plc.2_Silent_p.R357R|NUCB1_uc002pld.2_Silent_p.R20R	p.R357R	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	11	1143	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	357			Potential.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.1071G>C	CCDS12740.1																																																																																				PASS	0.667	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		12	39	12	39	---	---	---	---
FTL	2512	broad.mit.edu	37	19	49468815	49468815	+	Silent	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:49468815C>G	ENST00000331825.6	+	1	258	c.51C>G	c.(49-51)gtC>gtG	p.V17V	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	17	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.V17V(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AGGCAGCCGTCAACAGCCTGG	0.572																																						uc002plo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)GTC>GTG		ferritin, light polypeptide	Iron Dextran(DB00893)						70.0	69.0	70.0					19																	49468815		2203	4300	6503	SO:0001819	synonymous_variant	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49468815C>G	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.51C>G	19.37:g.49468815C>G						FTL_uc002pln.1_Silent_p.V17V	p.V17V	NM_000146	NP_000137	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	1	250	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	17			Ferritin-like diiron.		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	ENST00000331825.6	37	c.51C>G	CCDS33070.1																																																																																				PASS	0.572	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		47	102	47	102	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49934604	49934604	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:49934604C>T	ENST00000221485.3	-	10	1423	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	SLC17A7_ENST00000543531.1_Missense_Mutation_p.A406T|SLC17A7_ENST00000600601.1_Missense_Mutation_p.A351T	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	418					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.A418T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCAGAGATGGCGAAGCCGCTG	0.622																																						uc002pnp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1252-1254)GCC>ACC		solute carrier family 17, member 7							46.0	47.0	47.0					19																	49934604		2202	4300	6502	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49934604C>T	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1252G>A	19.37:g.49934604C>T	ENSP00000221485:p.Ala418Thr					SLC17A7_uc002pno.2_Intron	p.A418T	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	10	1424	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	418			Helical; (Potential).		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1252G>A	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475384	0.84640	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59083	0.29;0.29	4.17	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000032	T	0.59362	0.2188	L	0.51914	1.62	0.80722	D	1	B	0.28082	0.2	B	0.40066	0.318	T	0.62291	-0.6885	10	0.49607	T	0.09	.	14.3531	0.66716	0.0:1.0:0.0:0.0	.	418	Q9P2U7	VGLU1_HUMAN	T	418;406	ENSP00000221485:A418T;ENSP00000441767:A406T	ENSP00000221485:A418T	A	-	1	0	SLC17A7	54626416	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.435000	0.80391	2.338000	0.79540	0.430000	0.28490	GCC		PASS	0.622	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			34	80	34	80	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50796843	50796843	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:50796843C>T	ENST00000596571.1	+	36	5245	c.5245C>T	c.(5245-5247)Cgt>Tgt	p.R1749C	MYH14_ENST00000376970.2_Missense_Mutation_p.R1782C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1790C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1757C|MYH14_ENST00000440075.2_Missense_Mutation_p.R1790C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1790C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1757C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1749					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1790C(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGGAGAAGCGTCAGCTGGA	0.617																																						uc002prr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(5245-5247)CGT>TGT		myosin, heavy chain 14 isoform 2							32.0	37.0	35.0					19																	50796843		2170	4284	6454	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50796843C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5245C>T	19.37:g.50796843C>T	ENSP00000472819:p.Arg1749Cys					MYH14_uc010enu.1_Missense_Mutation_p.R1790C|MYH14_uc002prq.1_Missense_Mutation_p.R1757C|MYH14_uc010ycb.1_Missense_Mutation_p.R100C|MYH14_uc002prs.1_Missense_Mutation_p.R100C	p.R1749C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	37	5292	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1749			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5245C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227473	0.58668	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	3.61	3.61	0.41365	Myosin tail (1);	.	.	.	.	D	0.90154	0.6923	M	0.85542	2.76	0.49389	D	0.999782	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90307	0.4334	9	0.87932	D	0	.	8.6018	0.33749	0.2291:0.7708:0.0:0.0	.	1790;1749;1757	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1790;1782;1757;1533;1790	ENSP00000406273:R1790C;ENSP00000366169:R1782C;ENSP00000407879:R1757C;ENSP00000262269:R1790C	ENSP00000262269:R1790C	R	+	1	0	MYH14	55488655	0.990000	0.36364	0.995000	0.50966	0.963000	0.63663	0.718000	0.25866	2.311000	0.77944	0.407000	0.27541	CGT		PASS	0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		5	30	5	30	---	---	---	---
NKG7	4818	broad.mit.edu	37	19	51875032	51875032	+	Silent	SNP	C	C	T	rs560680752	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:51875032C>T	ENST00000221978.5	-	4	676	c.497G>A	c.(496-498)tGa>tAa	p.*166*	NKG7_ENST00000595217.1_3'UTR|CLDND2_ENST00000291715.1_5'Flank|CLDND2_ENST00000601435.1_5'Flank|NKG7_ENST00000600427.1_Silent_p.*86*	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	0						integral component of plasma membrane (GO:0005887)		p.*166*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCTTCTGCTCACAAGGTTTC	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		17625	0.002		0.0	False		,,,				2504	0.0					uc002pwj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(496-498)TGA>TAA		natural killer cell group 7 sequence							159.0	178.0	171.0					19																	51875032		2203	4300	6503	SO:0001819	synonymous_variant	4818					integral to plasma membrane		g.chr19:51875032C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.497G>A	19.37:g.51875032C>T						CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.2_Silent_p.*131*	p.*166*	NM_005601	NP_005592	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	668	-		all_neural(266;0.0199)	166						Silent	SNP	ENST00000221978.5	37	c.497G>A	CCDS12830.1																																																																																				PASS	0.587	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		138	351	138	351	---	---	---	---
VN1R4	317703	broad.mit.edu	37	19	53770644	53770644	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:53770644C>T	ENST00000311170.4	-	1	328	c.275G>A	c.(274-276)gGa>gAa	p.G92E	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	92					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.G92E(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AATGGACACTCCCCTGCCCAC	0.498										HNSCC(26;0.072)																												uc010ydu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)GGA>GAA		vomeronasal 1 receptor 4							23.0	22.0	22.0					19																	53770644		2203	4293	6496	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770644C>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.275G>A	19.37:g.53770644C>T	ENSP00000310856:p.Gly92Glu	HNSCC(26;0.072)					p.G92E	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	275	-			92			Helical; Name=3; (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.275G>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	7.805	0.714550	0.15306	.	.	ENSG00000228567	ENST00000311170	T	0.19669	2.13	2.28	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.677027	0.12180	N	0.492186	T	0.47078	0.1426	M	0.93283	3.4	0.09310	N	1	D	0.61080	0.989	D	0.63113	0.911	T	0.30707	-0.9969	10	0.72032	D	0.01	.	3.6821	0.08314	0.0:0.5828:0.2607:0.1565	.	92	Q7Z5H5	VN1R4_HUMAN	E	92	ENSP00000310856:G92E	ENSP00000310856:G92E	G	-	2	0	VN1R4	58462456	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-0.754000	0.04787	0.536000	0.28733	-0.281000	0.10026	GGA		PASS	0.498	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		9	12	9	12	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54782142	54782142	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:54782142G>A	ENST00000391749.4	-	7	1501	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P	LILRB2_ENST00000314446.5_Silent_p.P410P|LILRB2_ENST00000391748.1_Silent_p.P410P|LILRB2_ENST00000391746.1_Silent_p.P410P|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Silent_p.P294P	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	410	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.P410P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCTCACTGGGGTGAGACA	0.642																																						uc002qfb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1228-1230)CCC>CCT		leukocyte immunoglobulin-like receptor,							77.0	73.0	74.0					19																	54782142		2203	4300	6503	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782142G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1230C>T	19.37:g.54782142G>A						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.P410P|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.P410P|LILRB2_uc010yet.1_Silent_p.P294P|LILRB2_uc010yeu.1_RNA	p.P410P	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1496	-	Ovarian(34;0.19)		410			Extracellular (Potential).|Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1230C>T	CCDS12886.1																																																																																				PASS	0.642	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			30	92	30	92	---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54867018	54867018	+	Silent	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:54867018C>A	ENST00000391742.2	-	10	875	c.723G>T	c.(721-723)ctG>ctT	p.L241L	CTD-2587H19.1_ENST00000596234.1_lincRNA|LAIR1_ENST00000434277.2_Silent_p.L240L|LAIR1_ENST00000391743.3_Silent_p.L223L|LAIR1_ENST00000313038.6_Silent_p.L234L|LAIR1_ENST00000474878.1_Silent_p.L223L|LAIR1_ENST00000463489.1_5'Flank|LAIR1_ENST00000348231.4_Silent_p.L224L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	241					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L241L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCCCTGCAGCCAGGGCCTAAG	0.672																																						uc002qfk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(721-723)CTG>CTT		leukocyte-associated immunoglobulin-like							49.0	45.0	46.0					19																	54867018		2203	4300	6503	SO:0001819	synonymous_variant	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54867018C>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.723G>T	19.37:g.54867018C>A						LAIR1_uc002qfl.1_Silent_p.L224L|LAIR1_uc002qfm.1_Silent_p.L240L|LAIR1_uc002qfn.1_Silent_p.L223L|LAIR1_uc010yex.1_Silent_p.L234L|LAIR1_uc002qfo.2_Silent_p.L223L	p.L241L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	10	1033	-	Ovarian(34;0.19)		241			Cytoplasmic (Potential).			Silent	SNP	ENST00000391742.2	37	c.723G>T	CCDS12891.1																																																																																				PASS	0.672	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			52	57	52	57	---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54872558	54872558	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:54872558G>T	ENST00000391742.2	-	3	481	c.329C>A	c.(328-330)tCt>tAt	p.S110Y	LAIR1_ENST00000434277.2_Missense_Mutation_p.S109Y|LAIR1_ENST00000391743.3_Missense_Mutation_p.S92Y|LAIR1_ENST00000313038.6_Missense_Mutation_p.S103Y|LAIR1_ENST00000474878.1_Missense_Mutation_p.S109Y|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000348231.4_Missense_Mutation_p.S110Y			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	110	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S110Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACTCTGCTCAGACCATTTAGG	0.562																																						uc002qfk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(328-330)TCT>TAT		leukocyte-associated immunoglobulin-like							130.0	124.0	126.0					19																	54872558		2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872558G>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.329C>A	19.37:g.54872558G>T	ENSP00000375622:p.Ser110Tyr					LAIR1_uc002qfl.1_Missense_Mutation_p.S110Y|LAIR1_uc002qfm.1_Missense_Mutation_p.S109Y|LAIR1_uc002qfn.1_Missense_Mutation_p.S109Y|LAIR1_uc010yex.1_Missense_Mutation_p.S103Y|LAIR1_uc002qfo.2_Missense_Mutation_p.S92Y	p.S110Y	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	3	639	-	Ovarian(34;0.19)		110			Extracellular (Potential).|Ig-like C2-type.			Missense_Mutation	SNP	ENST00000391742.2	37	c.329C>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.793628	0.50102	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37	3.01	3.01	0.34805	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.359740	0.20484	N	0.091421	T	0.53206	0.1782	H	0.97440	4.005	0.09310	N	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.999;0.998;0.999	T	0.52328	-0.8590	10	0.87932	D	0	.	9.8223	0.40889	0.0:0.0:1.0:0.0	.	110;92;109;109;110;110	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	Y	92;110;109;110;103;109	ENSP00000375623:S92Y;ENSP00000375622:S110Y;ENSP00000391003:S109Y;ENSP00000301193:S110Y;ENSP00000319204:S103Y;ENSP00000418998:S109Y	ENSP00000319204:S103Y	S	-	2	0	LAIR1	59564370	0.935000	0.31712	0.215000	0.23724	0.053000	0.15095	3.917000	0.56424	2.010000	0.58986	0.644000	0.83932	TCT		PASS	0.562	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			53	180	53	180	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086421	55086421	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:55086421G>A	ENST00000251377.3	+	5	709	c.576G>A	c.(574-576)tcG>tcA	p.S192S	LILRA2_ENST00000391738.3_Silent_p.S192S|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S192S|LILRA2_ENST00000391737.1_Silent_p.S180S			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	192	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S192S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCAGGTGGTCGTACAGGTGCT	0.572																																						uc002qgg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(574-576)TCG>TCA		leukocyte immunoglobulin-like receptor,							164.0	159.0	160.0					19																	55086421		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086421G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.576G>A	19.37:g.55086421G>A						LILRA2_uc010ern.2_Silent_p.S192S|LILRA2_uc002qgf.2_Silent_p.S192S|LILRA2_uc010yfe.1_Silent_p.S192S|LILRA2_uc010yff.1_Silent_p.S180S|LILRA2_uc010ero.2_Silent_p.S180S|LILRA2_uc010yfg.1_Silent_p.S192S	p.S192S	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	665	+			192			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Silent	SNP	ENST00000251377.3	37	c.576G>A	CCDS46179.1																																																																																				PASS	0.572	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			35	159	35	159	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55399446	55399446	+	Missense_Mutation	SNP	C	C	A	rs587636812	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:55399446C>A	ENST00000355524.3	+	4	444	c.434C>A	c.(433-435)aCg>aAg	p.T145K	CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391725.3_Missense_Mutation_p.T145K|FCAR_ENST00000469767.1_Missense_Mutation_p.T145K|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.T133K|FCAR_ENST00000353758.4_Missense_Mutation_p.T36K|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391724.3_Missense_Mutation_p.T133K|FCAR_ENST00000391723.3_Missense_Mutation_p.T133K	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	145	Ig-like C2-type 2.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T145K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ATTTCCCTCACGTGCAGCTCA	0.502																																						uc002qhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(433-435)ACG>AAG		Fc alpha receptor isoform a precursor							74.0	68.0	70.0					19																	55399446		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55399446C>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.434C>A	19.37:g.55399446C>A	ENSP00000347714:p.Thr145Lys					FCAR_uc002qhq.2_Missense_Mutation_p.T145K|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.T118K|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.T145K|FCAR_uc002qhw.1_Missense_Mutation_p.T133K|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.T133K|FCAR_uc002qhz.1_Missense_Mutation_p.T133K|FCAR_uc002qia.1_Missense_Mutation_p.T36K	p.T145K	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	631	+			145			Ig-like C2-type 2.|Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.434C>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	0.481	-0.879853	0.02530	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000391725;ENST00000353758;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44	2.58	-5.17	0.02849	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.794200	0.03535	N	0.223008	T	0.05410	0.0143	N	0.05230	-0.09	0.09310	N	1	P;B;B;B;B;B;B	0.37864	0.61;0.184;0.08;0.125;0.05;0.066;0.225	B;B;B;B;B;B;B	0.22601	0.03;0.04;0.029;0.004;0.033;0.006;0.015	T	0.16808	-1.0390	10	0.48119	T	0.1	.	2.3373	0.04251	0.1777:0.2982:0.3873:0.1368	.	36;133;133;133;145;145;145	Q92592;Q92588;Q92593;Q9UEK0;Q53X39;P24071;P24071-4	.;.;.;.;.;FCAR_HUMAN;.	K	145;145;145;36;133;133;133	ENSP00000347714:T145K;ENSP00000375605:T145K;ENSP00000338058:T36K;ENSP00000352218:T133K;ENSP00000375603:T133K;ENSP00000375604:T133K	ENSP00000338058:T36K	T	+	2	0	FCAR	60091258	0.007000	0.16637	0.000000	0.03702	0.006000	0.05464	-0.288000	0.08377	-2.161000	0.00785	-1.114000	0.02060	ACG		PASS	0.502	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		36	34	36	34	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57176042	57176042	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:57176042G>T	ENST00000537055.2	-	2	756	c.525C>A	c.(523-525)ttC>ttA	p.F175L		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	175					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.F197L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGCCCTGGCTGAAGGCCTTGC	0.706																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(589-591)TTC>TTA		zinc finger protein 835							21.0	22.0	22.0					19																	57176042		2201	4298	6499	SO:0001583	missense	90485							g.chr19:57176042G>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.525C>A	19.37:g.57176042G>T	ENSP00000444747:p.Phe175Leu					ZNF835_uc010ygn.1_Missense_Mutation_p.F175L	p.F197L	NM_001005850	NP_001005850					2	591	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.591C>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721020	0.89205	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.46063	0.88	2.62	2.62	0.31277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66257	0.2771	M	0.87381	2.88	0.32040	N	0.598414	D	0.89917	1.0	D	0.97110	1.0	T	0.73007	-0.4118	9	0.87932	D	0	.	10.955	0.47351	0.0:0.0:1.0:0.0	.	197	Q9Y2P0	ZN835_HUMAN	L	197;175	ENSP00000444747:F175L	ENSP00000341756:F197L	F	-	3	2	ZNF835	61867854	0.973000	0.33851	0.989000	0.46669	0.964000	0.63967	1.580000	0.36547	1.470000	0.48102	0.561000	0.74099	TTC		PASS	0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	9	5	9	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326041	57326041	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:57326041G>T	ENST00000326441.9	-	10	4132	c.3769C>A	c.(3769-3771)Cag>Aag	p.Q1257K	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q1257K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1131K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1133K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1257					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q1257K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCCATCTGGCTCTGCTCC	0.473																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3769-3771)CAG>AAG		paternally expressed 3 isoform 1							54.0	45.0	48.0					19																	57326041		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326041G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3769C>A	19.37:g.57326041G>T	ENSP00000326581:p.Gln1257Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q1228K|PEG3_uc002qnv.2_Missense_Mutation_p.Q1257K|PEG3_uc002qnw.2_Missense_Mutation_p.Q1133K|PEG3_uc002qnx.2_Missense_Mutation_p.Q1131K|PEG3_uc010etr.2_Missense_Mutation_p.Q1257K	p.Q1257K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4120	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1257					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3769C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	8.415	0.844994	0.16963	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02525	4.26;4.26	3.56	1.37	0.22104	.	1.216660	0.06131	N	0.670692	T	0.02156	0.0067	N	0.14661	0.345	.	.	.	B;B;B	0.17038	0.001;0.009;0.02	B;B;B	0.12837	0.001;0.006;0.008	T	0.46707	-0.9172	9	0.38643	T	0.18	-3.4014	4.4546	0.11637	0.0:0.2949:0.4698:0.2353	.	1133;1257;1192	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1257	ENSP00000326581:Q1257K;ENSP00000403051:Q1257K	ENSP00000326581:Q1257K	Q	-	1	0	ZIM2	62017853	0.000000	0.05858	0.020000	0.16555	0.994000	0.84299	-0.341000	0.07811	0.429000	0.26202	0.655000	0.94253	CAG		PASS	0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			23	38	23	38	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326467	57326467	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:57326467C>A	ENST00000326441.9	-	10	3706	c.3343G>T	c.(3343-3345)Ggc>Tgc	p.G1115C	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1115C|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G989C|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G991C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1115					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G1115C(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCACAAAGCCCAGGCCACAG	0.493																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3343-3345)GGC>TGC		paternally expressed 3 isoform 1							128.0	119.0	122.0					19																	57326467		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326467C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3343G>T	19.37:g.57326467C>A	ENSP00000326581:p.Gly1115Cys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1086C|PEG3_uc002qnv.2_Missense_Mutation_p.G1115C|PEG3_uc002qnw.2_Missense_Mutation_p.G991C|PEG3_uc002qnx.2_Missense_Mutation_p.G989C|PEG3_uc010etr.2_Missense_Mutation_p.G1115C	p.G1115C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3694	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1115			C2H2-type 6.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3343G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173840	0.57692	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.50277	0.75;0.75	4.33	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129801	0.35936	N	0.002883	T	0.56366	0.1980	L	0.49256	1.55	.	.	.	D;D;D	0.89917	0.984;1.0;1.0	P;D;D	0.97110	0.802;0.998;1.0	T	0.65857	-0.6066	9	0.72032	D	0.01	-31.7004	5.3638	0.16103	0.2003:0.698:0.0:0.1017	.	991;1115;1050	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	1115	ENSP00000326581:G1115C;ENSP00000403051:G1115C	ENSP00000326581:G1115C	G	-	1	0	ZIM2	62018279	0.000000	0.05858	0.997000	0.53966	0.998000	0.95712	0.559000	0.23485	1.415000	0.47037	0.655000	0.94253	GGC		PASS	0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			84	91	84	91	---	---	---	---
TMEM74B	55321	broad.mit.edu	37	20	1161498	1161498	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:1161498C>A	ENST00000381894.3	-	2	1436	c.765G>T	c.(763-765)agG>agT	p.R255S	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	255						integral component of membrane (GO:0016021)		p.R255S(1)									GTTCTTAAGACCTCTGGAGGG	0.592																																						uc010gaa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(763-765)AGG>AGT		hypothetical protein LOC55321							69.0	60.0	63.0					20																	1161498		2203	4299	6502	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161498C>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.765G>T	20.37:g.1161498C>A	ENSP00000371318:p.Arg255Ser					C20orf46_uc002weq.1_Missense_Mutation_p.R255S	p.R255S	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	984	-			255					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.765G>T	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	1.243	-0.620894	0.03636	.	.	ENSG00000125895	ENST00000381894	T	0.42900	0.96	4.04	-1.2	0.09554	.	0.311460	0.22979	N	0.053321	T	0.18299	0.0439	N	0.08118	0	0.23416	N	0.997729	B	0.02656	0.0	B	0.04013	0.001	T	0.23797	-1.0178	10	0.18276	T	0.48	-10.1643	10.091	0.42447	0.0:0.2133:0.6804:0.1063	.	255	Q9NUR3	CT046_HUMAN	S	255	ENSP00000371318:R255S	ENSP00000371318:R255S	R	-	3	2	C20orf46	1109498	0.769000	0.28531	0.962000	0.40283	0.017000	0.09413	-0.156000	0.10100	-0.033000	0.13736	-0.211000	0.12701	AGG		PASS	0.592	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		40	90	40	90	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9546901	9546901	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:9546901G>A	ENST00000378429.3	-	6	1667	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L	PAK7_ENST00000353224.5_Missense_Mutation_p.P374L|PAK7_ENST00000378423.1_Missense_Mutation_p.P374L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	374	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P374L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTACCCAGACGGGTACTGGTG	0.572																																						uc002wnl.2																			1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1120-1122)CCG>CTG		p21-activated kinase 7							182.0	176.0	178.0					20																	9546901		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546901G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1121C>T	20.37:g.9546901G>A	ENSP00000367686:p.Pro374Leu					PAK7_uc002wnk.2_Missense_Mutation_p.P374L|PAK7_uc002wnj.2_Missense_Mutation_p.P374L|PAK7_uc010gby.1_Missense_Mutation_p.P374L	p.P374L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1666	-			374			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1121C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770121	0.69992	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.27557	1.66;1.66;1.66	5.94	5.94	0.96194	.	0.092757	0.85682	D	0.000000	T	0.48409	0.1498	L	0.54323	1.7	0.80722	D	1	D;P	0.76494	0.999;0.83	P;B	0.57620	0.824;0.177	T	0.16217	-1.0410	9	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	374;374	B0AZM9;Q9P286	.;PAK7_HUMAN	L	374;374;374;322	ENSP00000367686:P374L;ENSP00000322957:P374L;ENSP00000367679:P374L	.	P	-	2	0	PAK7	9494901	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	7.567000	0.82357	2.807000	0.96579	0.591000	0.81541	CCG		PASS	0.572	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			96	212	96	212	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17462428	17462428	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:17462428G>A	ENST00000262545.2	+	12	1945	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	PCSK2_ENST00000536609.1_Missense_Mutation_p.D509N|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.D525N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	544					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D544N(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGGGATGACGACTCCAAGGT	0.577																																						uc002wpm.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1630-1632)GAC>AAC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						86.0	70.0	75.0					20																	17462428		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462428G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1630G>A	20.37:g.17462428G>A	ENSP00000262545:p.Asp544Asn					PCSK2_uc002wpl.2_Missense_Mutation_p.D525N|PCSK2_uc010zrm.1_Missense_Mutation_p.D509N|PCSK2_uc002wpn.2_Missense_Mutation_p.D198N	p.D544N	NM_002594	NP_002585	P16519	NEC2_HUMAN			12	1950	+			544					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1630G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046013	0.93685	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.63913	-0.07;-0.07;-0.07	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.69248	2.105	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.635	D;D;B	0.97110	1.0;1.0;0.362	T	0.77461	-0.2579	10	0.49607	T	0.09	-49.3395	18.6061	0.91266	0.0:0.0:1.0:0.0	.	509;525;544	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	N	525;544;509	ENSP00000367131:D525N;ENSP00000262545:D544N;ENSP00000437458:D509N	ENSP00000262545:D544N	D	+	1	0	PCSK2	17410428	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	GAC		PASS	0.577	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		12	76	12	76	---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20033174	20033174	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:20033174C>G	ENST00000377340.2	-	2	327	c.296G>C	c.(295-297)gGt>gCt	p.G99A	CRNKL1_ENST00000536226.1_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.G87A|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	99					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G99A(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCCATGGTGACCAGGCTGCGC	0.622																																						uc002wrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(295-297)GGT>GCT		crooked neck-like 1 protein							64.0	59.0	61.0					20																	20033174		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20033174C>G	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.296G>C	20.37:g.20033174C>G	ENSP00000366557:p.Gly99Ala					C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.G87A	p.G99A	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			2	328	-			99					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.296G>C	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735023	0.30774	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.25912	1.77;1.77	4.93	3.95	0.45737	.	1.407480	0.04900	N	0.451240	T	0.17365	0.0417	N	0.08118	0	0.80722	D	1	B;B	0.26363	0.147;0.002	B;B	0.24701	0.055;0.003	T	0.10382	-1.0632	10	0.87932	D	0	-4.0792	10.6853	0.45839	0.1892:0.8108:0.0:0.0	.	87;99	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	A	87;99	ENSP00000366544:G87A;ENSP00000366557:G99A	ENSP00000366544:G87A	G	-	2	0	CRNKL1	19981174	0.987000	0.35691	0.789000	0.31954	0.050000	0.14768	2.985000	0.49362	2.570000	0.86706	0.655000	0.94253	GGT		PASS	0.622	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			4	73	4	73	---	---	---	---
NKX2-4	644524	broad.mit.edu	37	20	21376578	21376578	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:21376578C>T	ENST00000351817.4	-	2	1664	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	346					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A346T(1)		lung(2)|upper_aerodigestive_tract(1)	3						AGCAGGTTGGCGCCCAGGACG	0.736																																						uc010gcz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)GCC>ACC		NK2 homeobox 4							16.0	18.0	17.0					20																	21376578		1269	2930	4199	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376578C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.1036G>A	20.37:g.21376578C>T	ENSP00000345147:p.Ala346Thr						p.A346T	NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN			2	1046	-			346					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.1036G>A	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139000	0.56936	.	.	ENSG00000125816	ENST00000351817	D	0.91407	-2.84	4.19	2.1	0.27182	.	0.214631	0.29940	N	0.010803	T	0.81688	0.4875	N	0.22421	0.69	0.35673	D	0.813449	B	0.15473	0.013	B	0.06405	0.002	T	0.79100	-0.1942	10	0.51188	T	0.08	.	8.4961	0.33130	0.0:0.6217:0.2738:0.1045	.	346	Q9H2Z4	NKX24_HUMAN	T	346	ENSP00000345147:A346T	ENSP00000345147:A346T	A	-	1	0	NKX2-4	21324578	0.330000	0.24705	1.000000	0.80357	0.468000	0.32798	1.104000	0.31074	0.958000	0.37956	0.561000	0.74099	GCC		PASS	0.736	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			34	47	34	47	---	---	---	---
GGTLC1	92086	broad.mit.edu	37	20	23967093	23967093	+	Silent	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:23967093G>T	ENST00000335694.4	-	2	360	c.156C>A	c.(154-156)gcC>gcA	p.A52A	GGTLC1_ENST00000286890.4_Silent_p.A52A|GGTLC1_ENST00000278765.4_Silent_p.A52A	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	52					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.A52A(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGTGCTGGTGGCGGACACAG	0.632																																						uc002wts.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(154-156)GCC>GCA		gamma-glutamyltransferase light chain 1							22.0	20.0	21.0					20																	23967093		2203	4287	6490	SO:0001819	synonymous_variant	92086						gamma-glutamyltransferase activity	g.chr20:23967093G>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.156C>A	20.37:g.23967093G>T						GGTLC1_uc002wtu.2_Silent_p.A52A	p.A52A	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			2	289	-			52					D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	c.156C>A	CCDS13163.1																																																																																				PASS	0.632	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		18	25	18	25	---	---	---	---
BPIFA3	128861	broad.mit.edu	37	20	31805393	31805393	+	Silent	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:31805393G>A	ENST00000375454.3	+	1	261	c.51G>A	c.(49-51)ttG>ttA	p.L17L	RP11-49G10.3_ENST00000419613.1_RNA|BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.L17L	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	17						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L17L(1)									TGCTGGCCTTGCCCTTGGCAC	0.602																																						uc002wyr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(49-51)TTG>TTA		short long palate, lung and nasal epithelium							114.0	97.0	102.0					20																	31805393		2203	4300	6503	SO:0001819	synonymous_variant	128861					extracellular region	lipid binding	g.chr20:31805393G>A		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.51G>A	20.37:g.31805393G>A						C20orf71_uc002wys.2_Silent_p.L17L	p.L17L	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			1	259	+			17					Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	c.51G>A	CCDS13216.2																																																																																				PASS	0.602	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		59	76	59	76	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35422806	35422806	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:35422806C>A	ENST00000357779.3	-	14	3291	c.2965G>T	c.(2965-2967)Gcc>Tcc	p.A989S	SOGA1_ENST00000456801.2_Missense_Mutation_p.A830S|SOGA1_ENST00000237536.4_Missense_Mutation_p.A1227S|SOGA1_ENST00000279034.6_Missense_Mutation_p.A989S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	989					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A1227S(3)|p.A989S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGGCCAGGGCACCCAGGTGG	0.642																																						uc002xgd.1																			4	Substitution - Missense(4)		lung(4)		0						c.(2965-2967)GCC>TCC		hypothetical protein LOC140710 isoform 2							21.0	23.0	23.0					20																	35422806		1940	4132	6072	SO:0001583	missense	140710							g.chr20:35422806C>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2965G>T	20.37:g.35422806C>A	ENSP00000350424:p.Ala989Ser					C20orf117_uc002xge.1_RNA	p.A989S	NM_199181	NP_954650	O94964	K0889_HUMAN			14	3292	-		Myeloproliferative disorder(115;0.00874)	989					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2965G>T		.	.	.	.	.	.	.	.	.	.	C	1.028	-0.682784	0.03353	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.16597	2.33;2.4;2.33;2.34	5.14	-8.57	0.00900	.	1.341270	0.04428	N	0.368721	T	0.04724	0.0128	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	10	0.06365	T	0.9	-1.704	3.2654	0.06863	0.1761:0.204:0.096:0.5239	.	989	O94964-4	.	S	1227;989;830;989	ENSP00000237536:A1227S;ENSP00000279034:A989S;ENSP00000413886:A830S;ENSP00000350424:A989S	ENSP00000237536:A1227S	A	-	1	0	KIAA0889	34856220	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-0.839000	0.04368	-1.657000	0.01492	0.655000	0.94253	GCC		PASS	0.642	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		20	42	20	42	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36870069	36870069	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:36870069C>T	ENST00000279024.4	-	3	735	c.464G>A	c.(463-465)aGt>aAt	p.S155N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	155								p.S155N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCAAAGTCACTGTTGATGGC	0.512																																						uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(463-465)AGT>AAT		hypothetical protein LOC85449							112.0	112.0	112.0					20																	36870069		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36870069C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.464G>A	20.37:g.36870069C>T	ENSP00000279024:p.Ser155Asn					KIAA1755_uc002xhz.1_Missense_Mutation_p.S155N	p.S155N	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	736	-		Myeloproliferative disorder(115;0.00874)	155					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.464G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	1.054	-0.674879	0.03378	.	.	ENSG00000149633	ENST00000279024	T	0.05649	3.41	5.84	-0.0211	0.13953	.	1.013440	0.07888	N	0.970731	T	0.05227	0.0139	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46816	-0.9164	10	0.13470	T	0.59	.	10.4774	0.44674	0.0:0.5477:0.0:0.4523	.	155	Q5JYT7	K1755_HUMAN	N	155	ENSP00000279024:S155N	ENSP00000279024:S155N	S	-	2	0	KIAA1755	36303483	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	0.261000	0.18442	0.100000	0.17581	-0.793000	0.03317	AGT		PASS	0.512	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		68	127	68	127	---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44530927	44530927	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:44530927C>A	ENST00000477313.1	-	11	1748	c.1154G>T	c.(1153-1155)cGc>cTc	p.R385L	PLTP_ENST00000354050.4_Missense_Mutation_p.R333L|PLTP_ENST00000542937.1_Missense_Mutation_p.R405L|PLTP_ENST00000420868.2_Missense_Mutation_p.R290L|PLTP_ENST00000372420.1_Missense_Mutation_p.R297L|PLTP_ENST00000372431.3_Missense_Mutation_p.R385L			P55058	PLTP_HUMAN	phospholipid transfer protein	385					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.R385L(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCTGCGTGCGCAGGGCCTT	0.602																																						uc002xqn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1153-1155)CGC>CTC		phospholipid transfer protein isoform a							28.0	28.0	28.0					20																	44530927		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44530927C>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1154G>T	20.37:g.44530927C>A	ENSP00000417138:p.Arg385Leu					PLTP_uc002xql.1_Missense_Mutation_p.R297L|PLTP_uc002xqm.1_Missense_Mutation_p.R405L|PLTP_uc002xqo.1_Missense_Mutation_p.R333L|PLTP_uc002xqp.1_Missense_Mutation_p.R385L|PLTP_uc002xqq.1_Missense_Mutation_p.R354L|PLTP_uc010zxj.1_Missense_Mutation_p.R290L|PLTP_uc010ghj.1_Missense_Mutation_p.R385L	p.R385L	NM_006227	NP_006218	P55058	PLTP_HUMAN			12	1234	-		Myeloproliferative disorder(115;0.0122)	385					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.1154G>T	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144510	0.57044	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08	5.44	4.44	0.53790	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.311822	0.36519	N	0.002554	T	0.05090	0.0136	N	0.08118	0	0.40593	D	0.981502	P;P;P;P;P;P;P	0.46277	0.705;0.705;0.875;0.705;0.657;0.705;0.705	B;B;B;P;B;P;P	0.44946	0.371;0.371;0.41;0.465;0.268;0.465;0.465	T	0.48151	-0.9060	10	0.25751	T	0.34	-20.9335	8.6608	0.34091	0.0:0.7933:0.0:0.2067	.	290;290;297;385;333;385;405	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	L	297;385;333;385;405;290	ENSP00000361497:R297L;ENSP00000361508:R385L;ENSP00000335290:R333L;ENSP00000417138:R385L;ENSP00000440296:R405L;ENSP00000411671:R290L	ENSP00000335290:R333L	R	-	2	0	PLTP	43964334	0.961000	0.32948	0.997000	0.53966	0.994000	0.84299	1.880000	0.39628	2.837000	0.97791	0.655000	0.94253	CGC		PASS	0.602	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		28	57	28	57	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47836040	47836040	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:47836040G>C	ENST00000371764.4	+	1	157	c.148G>C	c.(148-150)Gtg>Ctg	p.V50L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	50	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V50L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGAGGTGCCGGTGGAGCCCGA	0.602																																						uc002xuh.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(148-150)GTG>CTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							61.0	59.0	60.0					20																	47836040		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47836040G>C	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.148G>C	20.37:g.47836040G>C	ENSP00000360828:p.Val50Leu						p.V50L	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	209	+			50			Asp/Glu/Lys-rich.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.148G>C	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347893	0.41599	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.84298	-1.83	6.08	-3.01	0.05463	.	0.530500	0.20980	N	0.082235	T	0.67239	0.2872	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.53655	-0.8408	10	0.28530	T	0.3	-2.9915	9.3169	0.37939	0.0684:0.5866:0.2368:0.1082	.	50	Q96GQ7	DDX27_HUMAN	L	50	ENSP00000360828:V50L	ENSP00000360828:V50L	V	+	1	0	DDX27	47269447	0.162000	0.22906	0.404000	0.26397	0.817000	0.46193	0.550000	0.23345	-0.367000	0.08052	0.655000	0.94253	GTG		PASS	0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			19	51	19	51	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62073850	62073850	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:62073850C>A	ENST00000359125.2	-	5	899	c.725G>T	c.(724-726)tGt>tTt	p.C242F	KCNQ2_ENST00000360480.3_Missense_Mutation_p.C242F|KCNQ2_ENST00000344425.5_Missense_Mutation_p.C242F|KCNQ2_ENST00000359689.1_Missense_Mutation_p.C242F|KCNQ2_ENST00000370224.1_Missense_Mutation_p.C242F|KCNQ2_ENST00000357249.2_Missense_Mutation_p.C242F|KCNQ2_ENST00000354587.3_Missense_Mutation_p.C242F|KCNQ2_ENST00000344462.4_Missense_Mutation_p.C242F	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	242					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.C242F(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAGGATGAGACAAAGGAAGCC	0.572																																						uc002yey.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(724-726)TGT>TTT		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						316.0	236.0	263.0					20																	62073850		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62073850C>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.725G>T	20.37:g.62073850C>A	ENSP00000352035:p.Cys242Phe					KCNQ2_uc002yez.1_Missense_Mutation_p.C242F|KCNQ2_uc002yfa.1_Missense_Mutation_p.C242F|KCNQ2_uc002yfb.1_Missense_Mutation_p.C242F|KCNQ2_uc011aax.1_Missense_Mutation_p.C242F|KCNQ2_uc002yfc.1_Missense_Mutation_p.C242F	p.C242F	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		5	902	-	all_cancers(38;1.24e-11)		242			Helical; Name=Segment S5; (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.725G>T	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741990	0.49151	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	3.15	3.15	0.36227	Ion transport (1);	0.324134	0.29198	N	0.012857	D	0.96522	0.8865	N	0.25957	0.775	0.41149	D	0.98601	P;B;P;P;P;P	0.48407	0.91;0.168;0.817;0.677;0.789;0.724	P;B;P;P;P;P	0.55112	0.673;0.356;0.731;0.534;0.534;0.769	D	0.96848	0.9623	10	0.59425	D	0.04	-28.5578	14.673	0.68958	0.0:1.0:0.0:0.0	.	242;242;242;242;242;242	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	F	242	ENSP00000349789:C242F;ENSP00000352035:C242F;ENSP00000359246:C242F;ENSP00000346601:C242F;ENSP00000352718:C242F;ENSP00000399612:C242F;ENSP00000353668:C242F;ENSP00000339611:C242F;ENSP00000359244:C242F;ENSP00000359242:C242F;ENSP00000359241:C242F;ENSP00000345523:C242F	ENSP00000345523:C242F	C	-	2	0	KCNQ2	61544294	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	3.027000	0.49697	1.476000	0.48215	0.306000	0.20318	TGT		PASS	0.572	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		75	211	75	211	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10944770	10944770	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr21:10944770G>A	ENST00000361285.4	-	11	793	c.464C>T	c.(463-465)tCt>tTt	p.S155F	TPTE_ENST00000298232.7_Missense_Mutation_p.S137F|TPTE_ENST00000342420.5_Missense_Mutation_p.S117F|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	155					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S137F(1)|p.S155F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATAAGTCAGAAAAATACTG	0.318																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(463-465)TCT>TTT		transmembrane phosphatase with tensin homology							100.0	112.0	108.0					21																	10944770		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944770G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.464C>T	21.37:g.10944770G>A	ENSP00000355208:p.Ser155Phe					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S137F|TPTE_uc002yir.1_Missense_Mutation_p.S117F|TPTE_uc010gkv.1_Missense_Mutation_p.S17F	p.S155F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	832	-			155					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.464C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.99	1.506885	0.26949	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98512	-4.97;-4.97;-4.97	2.31	2.31	0.28768	Ion transport (1);	0.260052	0.34531	U	0.003885	D	0.98333	0.9447	M	0.74647	2.275	0.45867	D	0.99872	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.977;0.977;0.995	D	0.97910	1.0308	10	0.87932	D	0	-31.6384	8.2508	0.31717	0.0:0.0:1.0:0.0	.	117;137;155	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	137;155;117	ENSP00000298232:S137F;ENSP00000355208:S155F;ENSP00000344441:S117F	ENSP00000298232:S137F	S	-	2	0	TPTE	9966641	0.997000	0.39634	0.671000	0.29857	0.246000	0.25737	2.757000	0.47557	1.594000	0.50039	0.194000	0.17425	TCT		PASS	0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			19	187	19	187	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22696781	22696781	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr21:22696781G>T	ENST00000400546.1	+	6	947	c.698G>T	c.(697-699)aGg>aTg	p.R233M	NCAM2_ENST00000535285.1_Missense_Mutation_p.R258M|NCAM2_ENST00000284894.7_Missense_Mutation_p.R91M	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	233	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R233M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTTTCCTGCAGGGCCTCAGGC	0.498																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(697-699)AGG>ATG		neural cell adhesion molecule 2 precursor							98.0	99.0	99.0					21																	22696781		1931	4129	6060	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22696781G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.698G>T	21.37:g.22696781G>T	ENSP00000383392:p.Arg233Met					NCAM2_uc011acb.1_Missense_Mutation_p.R91M|NCAM2_uc011acc.1_Missense_Mutation_p.R258M	p.R233M	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	6	947	+		Lung NSC(9;0.195)	233			Ig-like C2-type 3.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.698G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278513	0.40294	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.68331	-0.32;-0.32;-0.32	5.24	3.37	0.38596	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.163537	0.64402	D	0.000018	T	0.56863	0.2014	L	0.49571	1.57	0.40422	D	0.979851	B;B;B	0.18461	0.028;0.019;0.011	B;B;B	0.20184	0.028;0.013;0.005	T	0.50474	-0.8824	10	0.33940	T	0.23	-6.4358	8.2429	0.31671	0.0848:0.0:0.7589:0.1563	.	258;91;233	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	M	233;91;258	ENSP00000383392:R233M;ENSP00000284894:R91M;ENSP00000441887:R258M	ENSP00000284894:R91M	R	+	2	0	NCAM2	21618652	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.609000	0.67661	0.559000	0.29153	0.591000	0.81541	AGG		PASS	0.498	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		34	72	34	72	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46309964	46309964	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr21:46309964A>G	ENST00000397850.2	-	13	2038	c.1586T>C	c.(1585-1587)aTa>aCa	p.I529T	ITGB2_ENST00000397857.1_Missense_Mutation_p.I529T|ITGB2_ENST00000355153.4_Missense_Mutation_p.I529T|ITGB2_ENST00000302347.5_Missense_Mutation_p.I529T|ITGB2_ENST00000397852.1_Missense_Mutation_p.I529T|ITGB2_ENST00000397854.3_Missense_Mutation_p.I472T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	529	Cysteine-rich tandem repeats.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I529T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTGCCCGTATATCAGCTTGCC	0.642																																						uc002zgd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(1585-1587)ATA>ACA		integrin, beta 2 precursor	Simvastatin(DB00641)						101.0	81.0	88.0					21																	46309964		2202	4300	6502	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46309964A>G	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1586T>C	21.37:g.46309964A>G	ENSP00000380948:p.Ile529Thr					ITGB2_uc002zge.2_Missense_Mutation_p.I529T|ITGB2_uc002zgf.3_Missense_Mutation_p.I529T|ITGB2_uc011afl.1_Missense_Mutation_p.I451T|ITGB2_uc010gpw.2_Missense_Mutation_p.I472T|ITGB2_uc002zgg.2_Missense_Mutation_p.I529T	p.I529T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	11	1630	-			529			II.|Extracellular (Potential).|Cysteine-rich tandem repeats.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.1586T>C	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038660	0.35989	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.91	3.77	0.43336	.	.	.	.	.	T	0.76485	0.3994	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.67145	0.996;0.996	D;D	0.71414	0.973;0.937	T	0.76046	-0.3102	9	0.66056	D	0.02	.	7.0064	0.24838	0.8986:0.0:0.1014:0.0	.	472;529	A8MYE6;P05107	.;ITB2_HUMAN	T	529;529;472;529;529;529	ENSP00000380950:I529T;ENSP00000380955:I529T;ENSP00000380952:I472T;ENSP00000347279:I529T;ENSP00000380948:I529T;ENSP00000303242:I529T	ENSP00000303242:I529T	I	-	2	0	ITGB2	45134392	1.000000	0.71417	0.066000	0.19879	0.002000	0.02628	4.826000	0.62715	0.915000	0.36847	0.533000	0.62120	ATA		PASS	0.642	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		57	81	57	81	---	---	---	---
TSSK2	23617	broad.mit.edu	37	22	19119619	19119619	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr22:19119619C>A	ENST00000399635.2	+	1	1299	c.707C>A	c.(706-708)cCg>cAg	p.P236Q	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P236Q(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GTGGACTTCCCGCGCTCCAAG	0.597																																						uc002zow.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(706-708)CCG>CAG		testis-specific serine kinase 2							107.0	94.0	98.0					22																	19119619		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119619C>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.707C>A	22.37:g.19119619C>A	ENSP00000382544:p.Pro236Gln					DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	p.P236Q	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			1	1299	+	Colorectal(54;0.0993)		236			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.707C>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200103	0.58126	.	.	ENSG00000206203	ENST00000399635	T	0.65364	-0.15	5.56	5.56	0.83823	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	0.49305	D	0.000141	T	0.77731	0.4174	M	0.71206	2.165	0.36836	D	0.887163	D	0.61697	0.99	D	0.66979	0.948	T	0.82855	-0.0251	10	0.87932	D	0	.	16.4511	0.83991	0.0:1.0:0.0:0.0	.	236	Q96PF2	TSSK2_HUMAN	Q	236	ENSP00000382544:P236Q	ENSP00000382544:P236Q	P	+	2	0	TSSK2	17499619	0.961000	0.32948	0.985000	0.45067	0.928000	0.56348	2.092000	0.41700	2.601000	0.87937	0.655000	0.94253	CCG		PASS	0.597	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			77	133	77	133	---	---	---	---
TRMT2A	27037	broad.mit.edu	37	22	20102130	20102130	+	Silent	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr22:20102130C>G	ENST00000252136.7	-	7	1588	c.1200G>C	c.(1198-1200)ctG>ctC	p.L400L	RANBP1_ENST00000430524.1_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'UTR|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000404751.3_Silent_p.L400L|AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000439169.2_Silent_p.L400L|TRMT2A_ENST00000403707.3_Silent_p.L400L	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	400					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)	p.L400L(1)		breast(2)|endometrium(2)|lung(5)	9						TCCGGAAGGTCAGCCCTAGCA	0.632																																						uc002zrk.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1198-1200)CTG>CTC		HpaII tiny fragments locus 9C							140.0	136.0	138.0					22																	20102130		2203	4300	6503	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20102130C>G	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1200G>C	22.37:g.20102130C>G						TRMT2A_uc002zrl.1_Silent_p.L400L|TRMT2A_uc002zrm.1_Silent_p.L222L|TRMT2A_uc002zrn.1_Silent_p.L400L|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.L400L	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			8	1415	-			400					D3DX25|Q32P57|Q96ME6|Q9H732	Silent	SNP	ENST00000252136.7	37	c.1200G>C	CCDS13774.1																																																																																				PASS	0.632	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		65	157	65	157	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34157444	34157444	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr22:34157444C>G	ENST00000354992.2	-	3	591	c.20G>C	c.(19-21)gGg>gCg	p.G7A	LARGE_ENST00000397394.2_Missense_Mutation_p.G7A|LARGE_ENST00000402320.1_Missense_Mutation_p.G7A|LARGE_ENST00000437602.2_Missense_Mutation_p.G7A|LARGE_ENST00000337431.2_Missense_Mutation_p.G7A	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	7					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.G7A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTTCCGTCTCCCCCTGCAGAT	0.532																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(19-21)GGG>GCG		like-glycosyltransferase							122.0	113.0	116.0					22																	34157444		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34157444C>G	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.20G>C	22.37:g.34157444C>G	ENSP00000347088:p.Gly7Ala					LARGE_uc003ane.3_Missense_Mutation_p.G7A|LARGE_uc010gwp.2_Missense_Mutation_p.G7A|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.G7A	p.G7A	NM_004737	NP_004728	O95461	LARGE_HUMAN			3	599	-		Lung NSC(1;0.219)	7			Cytoplasmic (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.20G>C	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965062	0.18583	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.53640	1.12;1.06;1.12;1.06;0.61;1.31;1.28;1.29	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	N	0.19112	0.55	0.80722	D	1	B;B;B	0.30406	0.131;0.0;0.278	B;B;B	0.27887	0.058;0.002;0.084	T	0.11567	-1.0582	10	0.15499	T	0.54	.	19.1142	0.93331	0.0:1.0:0.0:0.0	.	7;7;7	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	A	7	ENSP00000347088:G7A;ENSP00000336636:G7A;ENSP00000380549:G7A;ENSP00000385223:G7A;ENSP00000388544:G7A;ENSP00000396277:G7A;ENSP00000415546:G7A;ENSP00000389605:G7A	ENSP00000336636:G7A	G	-	2	0	LARGE	32487444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.819000	0.75262	2.749000	0.94314	0.655000	0.94253	GGG		PASS	0.532	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		55	78	55	78	---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41204467	41204467	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chrX:41204467G>T	ENST00000399959.2	+	11	1915	c.1060G>T	c.(1060-1062)Gat>Tat	p.D354Y	DDX3X_ENST00000457138.2_Missense_Mutation_p.D338Y|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	354	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.D354Y(1)|p.D354H(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCGGATGTTGGATATGGGGTT	0.398										HNSCC(61;0.18)																												uc004dfe.2																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1060-1062)GAT>TAT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							154.0	143.0	147.0					X																	41204467		2143	4277	6420	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41204467G>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1060G>T	X.37:g.41204467G>T	ENSP00000382840:p.Asp354Tyr	HNSCC(61;0.18)				DDX3X_uc004dff.2_Missense_Mutation_p.D354Y|DDX3X_uc011mkq.1_Missense_Mutation_p.D338Y|DDX3X_uc011mkr.1_Missense_Mutation_p.D354Y|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.D354Y	NM_001356	NP_001347	O00571	DDX3X_HUMAN			11	1915	+			354			Necessary for interaction with XPO1.|Helicase ATP-binding.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1060G>T	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.815044	0.90790	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.17213	2.29;2.29	5.5	5.5	0.81552	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.091287	0.64402	D	0.000001	T	0.55178	0.1904	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.68648	-0.5353	10	0.87932	D	0	-27.5497	18.5127	0.90923	0.0:0.0:1.0:0.0	.	354;338;366;354	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	Y	354;338	ENSP00000382840:D354Y;ENSP00000392494:D338Y	ENSP00000382840:D354Y	D	+	1	0	DDX3X	41089411	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.807000	0.99171	2.313000	0.78055	0.597000	0.82753	GAT		PASS	0.398	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		105	24	105	24	---	---	---	---
CPXCR1	53336	broad.mit.edu	37	X	88008875	88008875	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chrX:88008875C>A	ENST00000276127.4	+	3	719	c.460C>A	c.(460-462)Cat>Aat	p.H154N	CPXCR1_ENST00000373111.1_Missense_Mutation_p.H154N	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	154							metal ion binding (GO:0046872)	p.H154N(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TATGATTCTCCATCTGCTATG	0.368																																						uc004efd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(460-462)CAT>AAT		CPX chromosome region, candidate 1							56.0	49.0	51.0					X																	88008875		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008875C>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.460C>A	X.37:g.88008875C>A	ENSP00000276127:p.His154Asn					CPXCR1_uc004efc.3_Missense_Mutation_p.H154N	p.H154N	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	719	+			154					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.460C>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	6.785	0.513862	0.12944	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.40225	1.04;1.04	2.97	2.1	0.27182	.	0.444040	0.16835	N	0.197563	T	0.23133	0.0559	N	0.24115	0.695	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.13575	-1.0504	9	.	.	.	-2.1325	5.2505	0.15519	0.0:0.833:0.0:0.167	.	154	Q8N123	CPXCR_HUMAN	N	154	ENSP00000276127:H154N;ENSP00000362203:H154N	.	H	+	1	0	CPXCR1	87895531	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	0.621000	0.24418	0.661000	0.30985	0.594000	0.82650	CAT		PASS	0.368	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		4	41	4	41	---	---	---	---
BTK	695	broad.mit.edu	37	X	100615711	100615711	+	Silent	SNP	T	T	C			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chrX:100615711T>C	ENST00000308731.7	-	8	784	c.621A>G	c.(619-621)gcA>gcG	p.A207A	BTK_ENST00000372880.1_Silent_p.A207A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	207					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.A207A(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGGTGCTGCTGCTGGCTCAG	0.463									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(619-621)GCA>GCG		Bruton agammaglobulinemia tyrosine kinase							121.0	109.0	113.0					X																	100615711		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615711T>C	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.621A>G	X.37:g.100615711T>C						BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Silent_p.A207A|BTK_uc010nno.2_Silent_p.A241A|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Silent_p.A207A	p.A207A	NM_000061	NP_000052	Q06187	BTK_HUMAN			8	814	-			207					B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.621A>G	CCDS14482.1																																																																																				PASS	0.463	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		70	17	70	17	---	---	---	---
H2BFWT	158983	broad.mit.edu	37	X	103267886	103267886	+	Missense_Mutation	SNP	C	C	G	rs370786873		TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chrX:103267886C>G	ENST00000217926.5	-	1	373	c.347G>C	c.(346-348)cGc>cCc	p.R116P	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	116						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R116P(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GGTGGCGATGCGGTCCAATAT	0.642																																						uc004elr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(346-348)CGC>CCC		H2B histone family, member W, testis-specific							42.0	37.0	39.0					X																	103267886		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267886C>G	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.347G>C	X.37:g.103267886C>G	ENSP00000354723:p.Arg116Pro						p.R116P	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			1	371	-			116					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.347G>C	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	15.77	2.930099	0.52759	.	.	ENSG00000123569	ENST00000217926	T	0.70164	-0.46	2.84	1.97	0.26223	Histone-fold (2);Histone core (1);	0.173284	0.20715	U	0.087015	T	0.80374	0.4611	M	0.87381	2.88	0.44142	D	0.996939	D	0.76494	0.999	D	0.76575	0.988	T	0.79344	-0.1842	10	0.87932	D	0	.	7.3459	0.26664	0.0:0.856:0.0:0.144	.	116	Q7Z2G1	H2BWT_HUMAN	P	116	ENSP00000354723:R116P	ENSP00000354723:R116P	R	-	2	0	H2BFWT	103154542	1.000000	0.71417	0.006000	0.13384	0.001000	0.01503	4.489000	0.60309	0.615000	0.30124	-0.192000	0.12808	CGC		PASS	0.642	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		48	11	48	11	---	---	---	---
FAM50A	9130	broad.mit.edu	37	X	153674214	153674214	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chrX:153674214G>T	ENST00000393600.3	+	3	361	c.251G>T	c.(250-252)cGg>cTg	p.R84L		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	84					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R84L(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GTGAAGGAGCGGGAGAAGCAG	0.607																																						uc004fll.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)CGG>CTG		XAP-5 protein							60.0	53.0	56.0					X																	153674214		2203	4300	6503	SO:0001583	missense	9130				spermatogenesis	nucleus		g.chrX:153674214G>T	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.251G>T	X.37:g.153674214G>T	ENSP00000377225:p.Arg84Leu						p.R84L	NM_004699	NP_004690	Q14320	FA50A_HUMAN			3	349	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		84					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	c.251G>T	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430487	0.96150	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80422	-0.1389	9	0.40728	T	0.16	-26.9032	16.3807	0.83460	0.0:0.0:1.0:0.0	.	84	Q14320	FA50A_HUMAN	L	84;44	.	ENSP00000158526:R44L	R	+	2	0	FAM50A	153327408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.252000	0.95491	2.121000	0.65114	0.529000	0.55759	CGG		PASS	0.607	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		23	12	23	12	---	---	---	---
LINC01347	731275	broad.mit.edu	37	1	243251423	243251423	+	lincRNA	DEL	A	A	-	rs200578702	byFrequency	TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr1:243251423delA	ENST00000417964.1	-	0	1346																											actccatctcaaaaaaaaaaa	0.458													|||unknown(NO_COVERAGE)	1468	0.293131	0.3033	0.3098	5008	,	,		13610	0.3333		0.2396	False		,,,				2504	0.2812					uc001hzq.1																			0													Homo sapiens cDNA FLJ52610 complete cds.																																						0							g.chr1:243251423delA																													1.37:g.243251423delA														8		-									RNA	DEL	ENST00000417964.1	37	c.1209delT																																																																																						0.458	RP11-261C10.3-006	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096168.1			3	4	3	4	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90260137	90260137	+	RNA	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr2:90260137delC	ENST00000471857.1	+	0	421									immunoglobulin kappa variable 1D-8																		AAAGTGGGGTCCCATCAAGGT	0.468																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							130.0	138.0	136.0					2																	90260137		1868	4101	5969			0							g.chr2:90260137delC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260137delC														30		+									RNA	DEL	ENST00000471857.1	37	c.4120delC																																																																																						0.468	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		205	103	205	103	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66467780	66467780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:66467780delC	ENST00000273854.3	-	3	1089	c.489delG	c.(487-489)gggfs	p.G163fs	EPHA5_ENST00000432638.2_Frame_Shift_Del_p.G163fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.G163fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.G163fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	163	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATGTTTCTCCCATTCTGAT	0.408										TSP Lung(17;0.13)																												uc003hcy.2																			0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(487-489)GGGfs		ephrin receptor EphA5 isoform a precursor							104.0	99.0	101.0					4																	66467780		2203	4300	6503	SO:0001589	frameshift_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467780delC	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.489delG	4.37:g.66467780delC	ENSP00000273854:p.Gly163fs	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Frame_Shift_Del_p.G94fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.G163fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.G163fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.G163fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.G163fs	p.G163fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	682	-			163			Extracellular (Potential).		Q7Z3F2	Frame_Shift_Del	DEL	ENST00000273854.3	37	c.489delG	CCDS3513.1																																																																																					0.408	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		57	70	57	70	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109782124	109782124	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr4:109782124delC	ENST00000399132.1	-	23	1731	c.1201delG	c.(1201-1203)gatfs	p.D401fs	COL25A1_ENST00000399126.1_Frame_Shift_Del_p.D401fs|COL25A1_ENST00000399127.1_Frame_Shift_Del_p.D382fs	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCTCCACGATCCCCCTTTTCC	0.433																																						uc003hze.1																			0				ovary(2)	2						c.(1201-1203)GATfs		collagen, type XXV, alpha 1 isoform 1							77.0	79.0	78.0					4																	109782124		1842	4094	5936	SO:0001589	frameshift_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109782124delC	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1201delG	4.37:g.109782124delC	ENSP00000382083:p.Asp401fs					COL25A1_uc003hzg.2_Frame_Shift_Del_p.D401fs|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Frame_Shift_Del_p.D167fs	p.D401fs	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	22	1732	-		Hepatocellular(203;0.217)	401			Extracellular (Potential).|Collagen-like 5.			Frame_Shift_Del	DEL	ENST00000399132.1	37	c.1201delG	CCDS43258.1																																																																																					0.433	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		28	32	28	32	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10529727	10529727	+	Frame_Shift_Del	DEL	T	T	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr6:10529727delT	ENST00000379597.3	+	1	1139	c.583delT	c.(583-585)tttfs	p.F195fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Frame_Shift_Del_p.F195fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	195					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CGGGCAAGACTTTCCCCTGAA	0.532																																						uc010joo.2																			0				ovary(2)	2						c.(583-585)TTTfs		glucosaminyl (N-acetyl) transferase 2,							46.0	48.0	47.0					6																	10529727		2203	4300	6503	SO:0001589	frameshift_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529727delT	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.583delT	6.37:g.10529727delT	ENSP00000368917:p.Phe195fs					GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Frame_Shift_Del_p.F194fs|GCNT2_uc010jon.2_Frame_Shift_Del_p.F194fs	p.F195fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	1134	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	195			Lumenal (Potential).			Frame_Shift_Del	DEL	ENST00000379597.3	37	c.583delT	CCDS34338.1																																																																																					0.532	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		56	30	56	30	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26619912	26619912	+	Splice_Site	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:26619912delC	ENST00000256737.3	+	15	2300	c.1448delC	c.(1447-1449)gcc>gc	p.A483fs	ANO3_ENST00000531568.1_Splice_Site_p.A337fs|ANO3_ENST00000537978.1_Splice_Site_p.A467fs|ANO3_ENST00000525139.1_Splice_Site_p.A467fs	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	483					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TATTTTATAGCCACAGTCTTC	0.313																																						uc001mqt.3																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1447-1449)GCCfs		transmembrane protein 16C							70.0	73.0	72.0					11																	26619912		2203	4299	6502	SO:0001630	splice_region_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26619912delC	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1448-1C>-	11.37:g.26619912delC						ANO3_uc010rdr.1_Frame_Shift_Del_p.A467fs|ANO3_uc010rds.1_Frame_Shift_Del_p.A322fs|ANO3_uc010rdt.1_Frame_Shift_Del_p.A337fs	p.A483fs	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			15	1593	+			483			Helical; (Potential).		B7Z3F5	Frame_Shift_Del	DEL	ENST00000256737.3	37	c.1448delC	CCDS31447.1																																																																																					0.313	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	Frame_Shift_Del	87	87	87	87	---	---	---	---
TMEM133	83935	broad.mit.edu	37	11	100863394	100863394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr11:100863394delG	ENST00000303130.2	+	1	584	c.355delG	c.(355-357)ggtfs	p.G119fs		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	119						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		AGTTCCACTTGGTAATAACGT	0.393																																						uc001pgf.2																			0					0						c.(355-357)GGTfs		transmembrane protein 133							140.0	135.0	137.0					11																	100863394		2203	4299	6502	SO:0001589	frameshift_variant	83935					integral to membrane		g.chr11:100863394delG	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.355delG	11.37:g.100863394delG	ENSP00000303999:p.Gly119fs						p.G119fs	NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	1	584	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	119			Helical; (Potential).			Frame_Shift_Del	DEL	ENST00000303130.2	37	c.355delG	CCDS8309.1																																																																																					0.393	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		205	112	205	112	---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50388016	50388016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr12:50388016delC	ENST00000427314.2	-	14	1460	c.1237delG	c.(1237-1239)gatfs	p.D414fs	RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000312377.5_Frame_Shift_Del_p.D414fs|RACGAP1_ENST00000547905.1_Frame_Shift_Del_p.D414fs|RACGAP1_ENST00000551016.1_Frame_Shift_Del_p.D414fs|RACGAP1_ENST00000454520.2_Frame_Shift_Del_p.D414fs|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000434422.1_Frame_Shift_Del_p.D414fs	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGGATATCATCCACTTTGCTG	0.448																																						uc001rvt.2																			0				kidney(1)	1						c.(1237-1239)GATfs		Rac GTPase activating protein 1							136.0	136.0	136.0					12																	50388016		2203	4300	6503	SO:0001589	frameshift_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50388016delC		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1237delG	12.37:g.50388016delC	ENSP00000404190:p.Asp414fs					RACGAP1_uc009zlm.1_Frame_Shift_Del_p.D413fs|RACGAP1_uc001rvs.2_Frame_Shift_Del_p.D413fs|RACGAP1_uc001rvu.2_Frame_Shift_Del_p.D413fs	p.D413fs	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN			14	1547	-			413			Rho-GAP.			Frame_Shift_Del	DEL	ENST00000427314.2	37	c.1237delG	CCDS8795.1																																																																																					0.448	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		163	100	163	100	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15302611	15302611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:15302611delC	ENST00000263388.2	-	5	822	c.747delG	c.(745-747)gggfs	p.G249fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	249	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		Missing (in CADASIL). {ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACGCATGTCCCCCCATTGA	0.622																																						uc002nan.2																			0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(745-747)GGGfs		Notch homolog 3 precursor							122.0	94.0	103.0					19																	15302611		2203	4300	6503	SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302611delC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.747delG	19.37:g.15302611delC	ENSP00000263388:p.Gly249fs					NOTCH3_uc002nao.1_Frame_Shift_Del_p.G249fs	p.G249fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		5	823	-			249		Missing (in CADASIL).	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.747delG	CCDS12326.1																																																																																					0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		75	48	75	48	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53572826	53572826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr19:53572826delC	ENST00000429604.1	-	7	1376	c.961delG	c.(961-963)gtcfs	p.V321fs	ZNF160_ENST00000599056.1_Frame_Shift_Del_p.V321fs|ZNF160_ENST00000418871.1_Frame_Shift_Del_p.V321fs|ZNF160_ENST00000601421.1_Frame_Shift_Del_p.V285fs	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	321					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGCCTGAAGACCTTGCCACAC	0.418																																						uc010eqk.2																			0				central_nervous_system(1)	1						c.(961-963)GTCfs		zinc finger protein 160							117.0	111.0	113.0					19																	53572826		2203	4300	6503	SO:0001589	frameshift_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572826delC	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.961delG	19.37:g.53572826delC	ENSP00000406201:p.Val321fs					ZNF160_uc002qaq.3_Frame_Shift_Del_p.V321fs|ZNF160_uc002qar.3_Frame_Shift_Del_p.V321fs	p.V321fs	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	1377	-			321			C2H2-type 3.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Frame_Shift_Del	DEL	ENST00000429604.1	37	c.961delG	CCDS12859.1																																																																																					0.418	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		97	79	97	79	---	---	---	---
GGTLC1	92086	broad.mit.edu	37	20	23967142	23967142	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chr20:23967142delC	ENST00000335694.4	-	2	311	c.107delG	c.(106-108)ggcfs	p.G36fs	GGTLC1_ENST00000286890.4_Frame_Shift_Del_p.G36fs|GGTLC1_ENST00000278765.4_Frame_Shift_Del_p.G36fs	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	36					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTGAGCAGTGCCCCCGTCATC	0.622																																						uc002wts.2																			0				ovary(1)	1						c.(106-108)GGCfs		gamma-glutamyltransferase light chain 1			,	24,4240		9,6,2117	59.0	52.0	54.0		,	0.8	0.1	20		54	43,8211		16,11,4100	no	frameshift,frameshift	GGTLC1	NM_178312.2,NM_178311.2	,	25,17,6217	A1A1,A1R,RR		0.521,0.5629,0.5352	,	,	23967142	67,12451	2203	4300	6503	SO:0001589	frameshift_variant	92086						gamma-glutamyltransferase activity	g.chr20:23967142delC	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.107delG	20.37:g.23967142delC	ENSP00000337587:p.Gly36fs					GGTLC1_uc002wtu.2_Frame_Shift_Del_p.G36fs	p.G36fs	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			2	240	-			36					D3DW43|Q08246	Frame_Shift_Del	DEL	ENST00000335694.4	37	c.107delG	CCDS13163.1																																																																																					0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		61	31	61	31	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134989943	134989943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-5592-01A-01D-1632-08	TCGA-18-5592-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1a6da454-8faf-4725-a702-55d29da461a5	18e8906f-4e3d-4b55-bbeb-8fa2993d64a5	g.chrX:134989943delC	ENST00000370709.3	+	9	1102	c.1102delC	c.(1102-1104)ccafs	p.P368fs	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Frame_Shift_Del_p.P368fs|SAGE1_ENST00000324447.3_Frame_Shift_Del_p.P368fs			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	368						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AACTGTTCTACCAGGGCTTGC	0.438																																						uc004ezh.2																			0				ovary(2)|skin(1)	3						c.(1102-1104)CCAfs		sarcoma antigen 1							181.0	143.0	156.0					X																	134989943		2203	4300	6503	SO:0001589	frameshift_variant	55511							g.chrX:134989943delC	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1102delC	X.37:g.134989943delC	ENSP00000359743:p.Pro368fs					SAGE1_uc010nry.1_Frame_Shift_Del_p.P337fs|SAGE1_uc011mvv.1_Intron	p.P368fs	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			10	1269	+	Acute lymphoblastic leukemia(192;0.000127)		368					Q5JNW0	Frame_Shift_Del	DEL	ENST00000370709.3	37	c.1102delC	CCDS14652.1																																																																																					0.438	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		43	101	43	101	---	---	---	---
