#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
CASZ1	54897	broad.mit.edu	37	1	10714050	10714050	+	Missense_Mutation	SNP	G	G	C	rs202202003	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:10714050G>C	ENST00000377022.3	-	11	2381	c.2064C>G	c.(2062-2064)caC>caG	p.H688Q	CASZ1_ENST00000344008.5_Missense_Mutation_p.H688Q|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	688					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H688Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCTTGCGCTTGTGAGAGGTCA	0.667																																						uc001aro.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2062-2064)CAC>CAG		castor homolog 1, zinc finger isoform a							73.0	71.0	71.0					1																	10714050		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714050G>C	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2064C>G	1.37:g.10714050G>C	ENSP00000366221:p.His688Gln					CASZ1_uc001arp.1_Missense_Mutation_p.H688Q|CASZ1_uc009vmx.2_Missense_Mutation_p.H712Q	p.H688Q	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2384	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	688			C2H2-type 3.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.2064C>G	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203626	0.79127	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.093095	0.85682	D	0.000000	T	0.79405	0.4440	M	0.84156	2.68	0.49582	D	0.999809	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.87578	0.998;0.998;0.991	T	0.82043	-0.0653	9	0.87932	D	0	-33.3182	12.7976	0.57567	0.0884:0.0:0.9116:0.0	.	712;688;688	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	Q	688	.	ENSP00000339445:H688Q	H	-	3	2	CASZ1	10636637	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.302000	0.59092	2.619000	0.88677	0.561000	0.74099	CAC		PASS	0.667	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		16	49	16	49	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11298013	11298013	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:11298013C>G	ENST00000361445.4	-	13	2171	c.2095G>C	c.(2095-2097)Gct>Cct	p.A699P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	699					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A699P(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCATTCAGAGCCACAAACAAG	0.572																																						uc001asd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2095-2097)GCT>CCT		FK506 binding protein 12-rapamycin associated							87.0	73.0	77.0					1																	11298013		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11298013C>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2095G>C	1.37:g.11298013C>G	ENSP00000354558:p.Ala699Pro						p.A699P	NM_004958	NP_004949	P42345	MTOR_HUMAN			13	2216	-			699					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2095G>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586231	0.96578	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66815	-0.23	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86289	0.5897	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.89014	0.3430	10	0.87932	D	0	-1.3991	19.8148	0.96562	0.0:1.0:0.0:0.0	.	699	P42345	MTOR_HUMAN	P	699	ENSP00000354558:A699P	ENSP00000354558:A699P	A	-	1	0	MTOR	11220600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.456000	0.80751	2.692000	0.91855	0.555000	0.69702	GCT		PASS	0.572	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		93	65	93	65	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17964465	17964465	+	Silent	SNP	G	G	T	rs201305917		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:17964465G>T	ENST00000361221.3	+	19	2169	c.2010G>T	c.(2008-2010)acG>acT	p.T670T	ARHGEF10L_ENST00000452522.1_Silent_p.T631T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.T631T|ARHGEF10L_ENST00000434513.1_Silent_p.T665T|ARHGEF10L_ENST00000375408.3_Silent_p.T443T|ARHGEF10L_ENST00000167825.4_Silent_p.T373T|ARHGEF10L_ENST00000375420.3_Silent_p.T428T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	670						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T670T(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCAGATCACGCTTCTCATCA	0.617																																						uc001ban.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(2008-2010)ACG>ACT		Rho guanine nucleotide exchange factor (GEF)							66.0	46.0	53.0					1																	17964465		2201	4299	6500	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17964465G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2010G>T	1.37:g.17964465G>T						ARHGEF10L_uc009vpe.1_Silent_p.T631T|ARHGEF10L_uc001bao.2_Silent_p.T631T|ARHGEF10L_uc001bap.2_Silent_p.T626T|ARHGEF10L_uc010ocr.1_Silent_p.T428T|ARHGEF10L_uc001baq.2_Silent_p.T431T|ARHGEF10L_uc010ocs.1_Silent_p.T443T|ARHGEF10L_uc001bar.2_Silent_p.T373T|ARHGEF10L_uc009vpf.2_RNA	p.T670T	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	19	2169	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	670					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.2010G>T	CCDS182.1																																																																																				PASS	0.617	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		13	7	13	7	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24384078	24384078	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:24384078G>T	ENST00000374434.3	-	37	4252	c.4090C>A	c.(4090-4092)Cct>Act	p.P1364T	MYOM3_ENST00000338909.5_Missense_Mutation_p.P257T|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.P1367T	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1364	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.P1364T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GAGATTTCAGGGGTGGGGTCT	0.507																																						uc001bin.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4090-4092)CCT>ACT		myomesin family, member 3							76.0	76.0	76.0					1																	24384078		1961	4160	6121	SO:0001583	missense	127294							g.chr1:24384078G>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4090C>A	1.37:g.24384078G>T	ENSP00000363557:p.Pro1364Thr					MYOM3_uc001bil.3_Missense_Mutation_p.P257T|MYOM3_uc001bim.3_Missense_Mutation_p.P1021T	p.P1364T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	37	4253	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1364			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4090C>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669605	0.88348	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.73258	-0.73;-0.73;-0.73	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87908	0.6296	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90827	0.4713	10	0.66056	D	0.02	.	17.8534	0.88755	0.0:0.0:1.0:0.0	.	1364;257	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	T	257;1364;1367;258	ENSP00000342689:P257T;ENSP00000363557:P1364T;ENSP00000332670:P1367T	ENSP00000332670:P1367T	P	-	1	0	MYOM3	24256665	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.595000	0.98260	2.436000	0.82500	0.655000	0.94253	CCT		PASS	0.507	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		53	37	53	37	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26359739	26359739	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:26359739C>A	ENST00000374280.3	+	8	2318	c.1451C>A	c.(1450-1452)cCa>cAa	p.P484Q		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	484					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.P484Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTTCTACCCATATAGCACC	0.572																																						uc001blf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1450-1452)CCA>CAA		exostoses-like 1							87.0	77.0	80.0					1																	26359739		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26359739C>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1451C>A	1.37:g.26359739C>A	ENSP00000363398:p.Pro484Gln						p.P484Q	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	8	2318	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	484			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1451C>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706295	0.48412	.	.	ENSG00000158008	ENST00000374280	T	0.76578	-1.03	5.06	4.13	0.48395	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.062527	0.64402	D	0.000005	D	0.85712	0.5760	M	0.86343	2.81	0.53005	D	0.999969	P	0.46020	0.871	P	0.54431	0.752	D	0.87234	0.2262	10	0.66056	D	0.02	-9.9157	11.1864	0.48660	0.0:0.9121:0.0:0.0879	.	484	Q92935	EXTL1_HUMAN	Q	484	ENSP00000363398:P484Q	ENSP00000363398:P484Q	P	+	2	0	EXTL1	26232326	0.998000	0.40836	0.696000	0.30242	0.121000	0.20230	4.080000	0.57620	1.333000	0.45449	0.561000	0.74099	CCA		PASS	0.572	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		49	48	49	48	---	---	---	---
CEP85	64793	broad.mit.edu	37	1	26581751	26581751	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:26581751G>T	ENST00000252992.4	+	4	429	c.298G>T	c.(298-300)Ggg>Tgg	p.G100W	CEP85_ENST00000451429.2_Missense_Mutation_p.G49W	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	100						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.G100W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TTCTACTTTAGGGACCTCTCC	0.498																																						uc001bls.1																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GGG>TGG		coiled-coil domain containing 21							209.0	216.0	214.0					1																	26581751		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26581751G>T	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.298G>T	1.37:g.26581751G>T	ENSP00000252992:p.Gly100Trp					CCDC21_uc001blr.2_Missense_Mutation_p.G100W|CCDC21_uc010ofa.1_Missense_Mutation_p.G49W	p.G100W	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)	4	429	+		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)	100					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.298G>T	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950403	0.73787	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.30448	1.53;1.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	M	0.66939	2.045	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	0.53373	-0.8448	10	0.87932	D	0	-19.5055	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	49;100;100	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	W	49;100	ENSP00000417002:G49W;ENSP00000252992:G100W	ENSP00000252992:G100W	G	+	1	0	CEP85	26454338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.183000	0.77697	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.498	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		119	279	119	279	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36226273	36226273	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:36226273C>A	ENST00000318121.3	-	8	1306	c.1249G>T	c.(1249-1251)Gac>Tac	p.D417Y	CLSPN_ENST00000373220.3_Missense_Mutation_p.D417Y|CLSPN_ENST00000251195.5_Missense_Mutation_p.D417Y|CLSPN_ENST00000520551.1_Missense_Mutation_p.D417Y	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	417					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.D417Y(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTCTAATGTCACTCTGCTTC	0.453																																						uc001bzi.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(1249-1251)GAC>TAC		claspin							142.0	132.0	135.0					1																	36226273		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226273C>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1249G>T	1.37:g.36226273C>A	ENSP00000312995:p.Asp417Tyr					CLSPN_uc009vux.2_Missense_Mutation_p.D417Y	p.D417Y	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			8	1329	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	417					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.1249G>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349240	0.41599	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.24723	1.85;1.86;1.84;1.85	5.51	0.178	0.15058	.	0.808466	0.11845	N	0.523958	T	0.44498	0.1296	M	0.69823	2.125	0.09310	N	1	D;D	0.71674	0.974;0.998	P;D	0.65443	0.66;0.935	T	0.28933	-1.0028	10	0.66056	D	0.02	-1.6697	9.6294	0.39770	0.0:0.4538:0.0:0.5462	.	417;417	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Y	417	ENSP00000251195:D417Y;ENSP00000312995:D417Y;ENSP00000362317:D417Y;ENSP00000428848:D417Y	ENSP00000251195:D417Y	D	-	1	0	CLSPN	35998860	0.001000	0.12720	0.004000	0.12327	0.833000	0.47200	0.383000	0.20651	0.005000	0.14708	0.591000	0.81541	GAC		PASS	0.453	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		126	323	126	323	---	---	---	---
GJA9	81025	broad.mit.edu	37	1	39341485	39341485	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:39341485C>T	ENST00000360786.3	-	1	538	c.286G>A	c.(286-288)Gca>Aca	p.A96T	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.A96T|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.A96T|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	96					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.A96T(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CGGTACAATGCATGGCCCATG	0.468																																						uc001cct.1																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)GCA>ACA		gap junction protein, alpha 9, 59kDa							168.0	165.0	166.0					1																	39341485		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39341485C>T	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.286G>A	1.37:g.39341485C>T	ENSP00000354020:p.Ala96Thr					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.A96T	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	567	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	96			Helical; (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.286G>A	CCDS432.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871475	0.72065	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.99121	-5.45;-5.45;-5.45	4.55	1.51	0.23008	Connexin, N-terminal (1);	0.062750	0.64402	N	0.000007	D	0.98551	0.9516	L	0.54323	1.7	0.43246	D	0.995161	D	0.89917	1.0	D	0.97110	1.0	D	0.97472	1.0041	10	0.62326	D	0.03	.	7.1774	0.25753	0.0:0.6944:0.141:0.1645	.	96	P57773	CXA9_HUMAN	T	96	ENSP00000406846:A96T;ENSP00000350415:A96T;ENSP00000354020:A96T	ENSP00000350415:A96T	A	-	1	0	GJA9	39114072	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.475000	0.45162	0.204000	0.20548	0.650000	0.86243	GCA		PASS	0.468	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		169	354	169	354	---	---	---	---
KCNQ4	9132	broad.mit.edu	37	1	41304020	41304020	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:41304020G>T	ENST00000347132.5	+	14	1995	c.1913G>T	c.(1912-1914)gGc>gTc	p.G638V	KCNQ4_ENST00000509682.2_Missense_Mutation_p.G584V|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	638	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.G638V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CTGCTGTTGGGCTTCTATTCG	0.706																																						uc001cgh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1912-1914)GGC>GTC		potassium voltage-gated channel KQT-like protein							84.0	85.0	85.0					1																	41304020		2203	4299	6502	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41304020G>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1913G>T	1.37:g.41304020G>T	ENSP00000262916:p.Gly638Val					KCNQ4_uc001cgi.1_Missense_Mutation_p.G584V	p.G638V	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		14	1995	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	638			|Cytoplasmic.|A-domain (Tetramerization).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1913G>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243695	0.58995	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99652	-6.3;-6.3	4.79	4.79	0.61399	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.195635	0.44285	D	0.000465	D	0.99327	0.9764	L	0.50333	1.59	0.80722	D	1	P;D	0.55605	0.865;0.972	B;D	0.64410	0.32;0.925	D	0.98740	1.0716	10	0.87932	D	0	-24.5708	15.3194	0.74109	0.0:0.0:1.0:0.0	.	584;638	P56696-2;P56696	.;KCNQ4_HUMAN	V	638;584	ENSP00000262916:G638V;ENSP00000423756:G584V	ENSP00000262916:G638V	G	+	2	0	KCNQ4	41076607	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.110000	0.64622	2.218000	0.71995	0.313000	0.20887	GGC		PASS	0.706	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		130	124	130	124	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43782945	43782945	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:43782945C>A	ENST00000372476.3	+	15	2564	c.2485C>A	c.(2485-2487)Ctg>Atg	p.L829M	TIE1_ENST00000433781.2_Missense_Mutation_p.L474M|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	829					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L829M(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCGAGCCCCTGAGCTACCC	0.602																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(2485-2487)CTG>ATG		tyrosine kinase with immunoglobulin-like and							73.0	71.0	71.0					1																	43782945		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43782945C>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2485C>A	1.37:g.43782945C>A	ENSP00000361554:p.Leu829Met					TIE1_uc010oke.1_Missense_Mutation_p.L784M|TIE1_uc009vwq.2_Missense_Mutation_p.L785M|TIE1_uc010okg.1_Missense_Mutation_p.L474M	p.L829M	NM_005424	NP_005415	P35590	TIE1_HUMAN			15	2564	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	829			Cytoplasmic (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2485C>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353587	0.61293	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.78595	-1.15;-1.19	5.1	2.82	0.32997	Protein kinase-like domain (1);	0.000000	0.30277	N	0.009994	T	0.80502	0.4635	L	0.46157	1.445	0.49687	D	0.99981	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.71414	0.973;0.855;0.973	T	0.75986	-0.3124	10	0.25106	T	0.35	.	9.5855	0.39514	0.0:0.738:0.0:0.262	.	784;474;829	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	M	829;232;112;474	ENSP00000361554:L829M;ENSP00000411728:L474M	ENSP00000361553:L232M	L	+	1	2	TIE1	43555532	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	2.480000	0.45206	1.107000	0.41642	0.650000	0.86243	CTG		PASS	0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		65	128	65	128	---	---	---	---
AGBL4	84871	broad.mit.edu	37	1	49332895	49332895	+	Missense_Mutation	SNP	C	C	A	rs558279897		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:49332895C>A	ENST00000371839.1	-	6	718	c.602G>T	c.(601-603)cGa>cTa	p.R201L	AGBL4_ENST00000371838.1_Missense_Mutation_p.R201L|AGBL4_ENST00000371836.1_Missense_Mutation_p.R201L	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	201					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R201L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GTCAAGCTTTCGTTGTTGCTG	0.498																																						uc001cru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(601-603)CGA>CTA		ATP/GTP binding protein-like 4							77.0	76.0	76.0					1																	49332895		2025	4188	6213	SO:0001583	missense	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49332895C>A	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.602G>T	1.37:g.49332895C>A	ENSP00000360905:p.Arg201Leu					AGBL4_uc010omw.1_5'UTR|AGBL4_uc010omx.1_Missense_Mutation_p.R213L|AGBL4_uc001crv.1_Missense_Mutation_p.R54L|AGBL4_uc010omy.1_Missense_Mutation_p.R54L	p.R201L	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	6	760	-			201					B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	c.602G>T	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.455891|4.455891	0.84209|0.84209	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000416121|ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	.|T;T;T	.|0.28069	.|1.63;1.63;1.7	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Peptidase M14, carboxypeptidase A (1);	.|0.000000	.|0.53938	.|D	.|0.000042	.|T	.|0.50394	.|0.1613	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.994;0.992;0.999;0.991	.|D;D;D;D	.|0.76575	.|0.988;0.979;0.988;0.963	.|T	.|0.34304	.|-0.9834	.|9	.|.	.|.	.|.	-11.3062|-11.3062	14.4649|14.4649	0.67477|0.67477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|16;213;46;201	.|A0AVJ2;Q5VU57-2;B1AMW2;Q5VU57	.|.;.;.;CBPC6_HUMAN	X|L	47|201;195;201;201	.|ENSP00000360905:R201L;ENSP00000360904:R201L;ENSP00000360902:R201L	.|.	E|R	-|-	1|2	0|0	AGBL4|AGBL4	49105482|49105482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.987000|3.987000	0.56944|0.56944	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAA|CGA		PASS	0.498	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		29	24	29	24	---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57173172	57173172	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:57173172G>C	ENST00000371244.4	+	9	1511	c.1445G>C	c.(1444-1446)gGt>gCt	p.G482A		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	482					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.G482A(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CAGAGATCTGGTTCCTCAACA	0.428																																						uc001cyk.3																			2	Substitution - Missense(2)		lung(2)	breast(4)|ovary(1)|stomach(1)	6						c.(1444-1446)GGT>GCT		AMP-activated protein kinase alpha 2 catalytic							131.0	127.0	129.0					1																	57173172		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57173172G>C	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1445G>C	1.37:g.57173172G>C	ENSP00000360290:p.Gly482Ala						p.G482A	NM_006252	NP_006243	P54646	AAPK2_HUMAN			9	1516	+			482					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1445G>C	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479169	0.63849	.	.	ENSG00000162409	ENST00000371244	T	0.08008	3.14	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	L	0.48642	1.525	0.80722	D	1	B	0.25521	0.128	B	0.27380	0.079	T	0.09840	-1.0656	10	0.30854	T	0.27	-27.5833	20.4777	0.99188	0.0:0.0:1.0:0.0	.	482	P54646	AAPK2_HUMAN	A	482	ENSP00000360290:G482A	ENSP00000360290:G482A	G	+	2	0	PRKAA2	56945760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GGT		PASS	0.428	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		71	237	71	237	---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	64027381	64027381	+	Splice_Site	SNP	G	G	C	rs535783770		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:64027381G>C	ENST00000371088.4	+	11	1596	c.1350G>C	c.(1348-1350)gaG>gaC	p.E450D	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	450							calcium ion binding (GO:0005509)	p.E450D(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTTAAACAGAGAATTTTGATA	0.259																																						uc001dbf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)GAG>GAC		EF-hand calcium binding domain 7							46.0	48.0	47.0					1																	64027381		2203	4300	6503	SO:0001630	splice_region_variant	84455						calcium ion binding	g.chr1:64027381G>C	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1349-1G>C	1.37:g.64027381G>C							p.E450D	NM_032437	NP_115813	A8K855	EFCB7_HUMAN			11	1644	+			450					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.1350G>C	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329620	0.24167	.	.	ENSG00000203965	ENST00000371088	T	0.47528	0.84	5.62	-2.33	0.06724	EF-hand-like domain (1);	0.090564	0.85682	N	0.000000	T	0.20740	0.0499	M	0.76328	2.33	0.80722	D	1	B	0.16396	0.017	B	0.15870	0.014	T	0.08411	-1.0723	10	0.48119	T	0.1	.	3.0129	0.06049	0.3425:0.1753:0.3918:0.0903	.	450	A8K855	EFCB7_HUMAN	D	450	ENSP00000360129:E450D	ENSP00000360129:E450D	E	+	3	2	EFCAB7	63799969	0.993000	0.37304	0.775000	0.31657	0.796000	0.44982	0.273000	0.18662	-1.218000	0.02601	-1.786000	0.00637	GAG		PASS	0.259	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437	Missense_Mutation	39	73	39	73	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74540356	74540356	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:74540356A>T	ENST00000395089.1	-	5	985	c.986T>A	c.(985-987)cTc>cAc	p.L329H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.L329H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	329								p.L329H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTTGAATGAGATGTCTTGA	0.239																																						uc001dfy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(985-987)CTC>CAC		leucine-rich repeats and IQ motif containing 3							54.0	42.0	45.0					1																	74540356		1712	3954	5666	SO:0001583	missense	127255							g.chr1:74540356A>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.986T>A	1.37:g.74540356A>T	ENSP00000378524:p.Leu329His					LRRIQ3_uc001dfz.3_RNA	p.L329H	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			6	1178	-			329					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.986T>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	A	7.441	0.640783	0.14386	.	.	ENSG00000162620	ENST00000417067;ENST00000395089;ENST00000354431	T;T	0.08984	3.03;3.03	4.62	2.0	0.26442	.	0.260251	0.20400	N	0.093073	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.25007	0.116	B	0.23852	0.049	T	0.44742	-0.9308	10	0.54805	T	0.06	.	4.4482	0.11607	0.5952:0.1972:0.0:0.2076	.	329	A6PVS8	LRIQ3_HUMAN	H	40;329;329	ENSP00000378524:L329H;ENSP00000346414:L329H	ENSP00000346414:L329H	L	-	2	0	LRRIQ3	74312944	0.680000	0.27605	0.512000	0.27736	0.953000	0.61014	0.502000	0.22594	0.811000	0.34303	0.533000	0.62120	CTC		PASS	0.239	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	2	8	2	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670658	74670658	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:74670658A>G	ENST00000609362.1	+	4	964	c.927A>G	c.(925-927)ggA>ggG	p.G309G	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370898.3_Silent_p.G322G|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	309					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.G309G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGGCTTTGGGACCTGGAGCAA	0.383																																						uc001dgb.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(925-927)GGA>GGG		fucose-1-phosphate guanyltransferase							72.0	73.0	72.0					1																	74670658		2203	4300	6503	SO:0001819	synonymous_variant	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670658A>G	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.927A>G	1.37:g.74670658A>G						TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.G309G	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	964	+			309					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.927A>G	CCDS663.1																																																																																				PASS	0.383	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				41	133	41	133	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037587	75037587	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:75037587C>A	ENST00000326665.5	-	14	4025	c.3807G>T	c.(3805-3807)agG>agT	p.R1269S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1269	Glu-rich.							p.R1269S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCTGGGTCCTTAGCACGA	0.572																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3805-3807)AGG>AGT		hypothetical protein LOC127254							161.0	138.0	146.0					1																	75037587		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037587C>A																												ENST00000326665.5:c.3807G>T	1.37:g.75037587C>A	ENSP00000322609:p.Arg1269Ser						p.R1269S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4026	-			1269			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3807G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.333	1.060977	0.19987	.	.	ENSG00000178965	ENST00000326665	T	0.11385	2.78	4.69	1.67	0.24075	.	.	.	.	.	T	0.01558	0.0050	N	0.22421	0.69	0.09310	N	0.999999	B	0.22003	0.063	B	0.21917	0.037	T	0.49021	-0.8982	9	0.09590	T	0.72	9.1184	5.6285	0.17497	0.0:0.5851:0.1569:0.258	.	1269	Q5RHP9	CA173_HUMAN	S	1269	ENSP00000322609:R1269S	ENSP00000322609:R1269S	R	-	3	2	C1orf173	74810175	0.005000	0.15991	0.004000	0.12327	0.002000	0.02628	0.068000	0.14531	0.049000	0.15920	-0.333000	0.08304	AGG		PASS	0.572	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			180	147	180	147	---	---	---	---
GFI1	2672	broad.mit.edu	37	1	92941612	92941612	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:92941612G>A	ENST00000370332.1	-	7	1561	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	GFI1_ENST00000294702.5_Missense_Mutation_p.R415W|GFI1_ENST00000427103.1_Missense_Mutation_p.R415W	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	415					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R415W(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGCGTCTCCCGGTGCCTTCGG	0.607																																						uc001dou.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1243-1245)CGG>TGG		growth factor independent 1							63.0	51.0	55.0					1																	92941612		2203	4300	6503	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941612G>A	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1243C>T	1.37:g.92941612G>A	ENSP00000359357:p.Arg415Trp					GFI1_uc001dov.3_Missense_Mutation_p.R415W|GFI1_uc001dow.3_Missense_Mutation_p.R415W	p.R415W	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1407	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	415			C2H2-type 6.		Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.1243C>T	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170630	0.78452	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.10005	2.92;2.92;2.92	5.61	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063358	0.64402	D	0.000010	T	0.17365	0.0417	L	0.42487	1.325	0.58432	D	0.999991	D	0.89917	1.0	D	0.66979	0.948	T	0.00653	-1.1625	10	0.87932	D	0	-20.8011	16.4803	0.84156	0.0:0.0:0.8424:0.1576	.	415	Q99684	GFI1_HUMAN	W	415	ENSP00000359357:R415W;ENSP00000399719:R415W;ENSP00000294702:R415W	ENSP00000294702:R415W	R	-	1	2	GFI1	92714200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.895000	0.56258	2.647000	0.89833	0.563000	0.77884	CGG		PASS	0.607	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		11	30	11	30	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111957655	111957655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:111957655C>A	ENST00000369732.3	-	11	1523	c.1468G>T	c.(1468-1470)Gga>Tga	p.G490*		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	490					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.G554*(1)|p.G490*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GCCTTCTCTCCAGGGGTCATG	0.532																																						uc001eba.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(1468-1470)GGA>TGA		oviductal glycoprotein 1 precursor							100.0	85.0	90.0					1																	111957655		2203	4300	6503	SO:0001587	stop_gained	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957655C>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1468G>T	1.37:g.111957655C>A	ENSP00000358747:p.Gly490*					OVGP1_uc001eaz.2_Nonsense_Mutation_p.G452*|OVGP1_uc010owb.1_Nonsense_Mutation_p.G138*	p.G490*	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1524	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	490					A0AV19|B9EGE1|Q15841	Nonsense_Mutation	SNP	ENST00000369732.3	37	c.1468G>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340551	0.60963	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	.	.	.	2.61	2.61	0.31194	.	.	.	.	.	.	.	.	.	.	.	0.31834	N	0.624329	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.0087	9.2719	0.37677	0.0:1.0:0.0:0.0	.	.	.	.	X	490;554;298	.	ENSP00000358743:G554X	G	-	1	0	OVGP1	111759178	0.012000	0.17670	0.010000	0.14722	0.019000	0.09904	1.293000	0.33353	1.397000	0.46682	0.585000	0.79938	GGA		PASS	0.532	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		55	124	55	124	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118635849	118635849	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:118635849C>A	ENST00000336338.5	-	8	1168	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	368						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.S368I(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGCTGCATGCTTTCCAAATA	0.418																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1102-1104)AGC>ATC		sperm associated antigen 17							115.0	104.0	108.0					1																	118635849		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118635849C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1103G>T	1.37:g.118635849C>A	ENSP00000337804:p.Ser368Ile						p.S368I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	8	1171	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	368					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1103G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693086	0.48202	.	.	ENSG00000155761	ENST00000336338	T	0.69175	-0.38	5.64	-1.65	0.08291	.	0.350142	0.39341	N	0.001390	T	0.58352	0.2116	M	0.72118	2.19	0.20403	N	0.999908	D	0.53885	0.963	P	0.55508	0.777	T	0.58736	-0.7584	10	0.87932	D	0	.	8.1488	0.31128	0.0:0.3541:0.108:0.5379	.	368	Q6Q759	SPG17_HUMAN	I	368	ENSP00000337804:S368I	ENSP00000337804:S368I	S	-	2	0	SPAG17	118437372	0.625000	0.27111	0.968000	0.41197	0.557000	0.35523	-0.116000	0.10724	-0.150000	0.11195	0.591000	0.81541	AGC		PASS	0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		35	68	35	68	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144915519	144915519	+	Nonsense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:144915519T>A	ENST00000369354.3	-	14	2095	c.1906A>T	c.(1906-1908)Aaa>Taa	p.K636*	PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.K636*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.K773*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.K773*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.K636*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.K702*|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.K799*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.K636*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.K799*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.K423*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	636					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.K636*(2)|p.K799*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCACTTGTTTATTTCGATCA	0.493			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Nonsense(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1906-1908)AAA>TAA		phosphodiesterase 4D interacting protein isoform							319.0	287.0	297.0					1																	144915519		2203	4296	6499	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144915519T>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1906A>T	1.37:g.144915519T>A	ENSP00000358360:p.Lys636*					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.K702*|PDE4DIP_uc001emc.1_Nonsense_Mutation_p.K636*|PDE4DIP_uc001emd.1_Nonsense_Mutation_p.K636*|PDE4DIP_uc001emb.1_Nonsense_Mutation_p.K799*|PDE4DIP_uc001eme.1_Nonsense_Mutation_p.K165*|PDE4DIP_uc001emf.1_Nonsense_Mutation_p.K421*	p.K636*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	14	2197	-			636			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.1906A>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	40	8.176004	0.98691	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.	.	.	5.2	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5952	0.39569	0.0:0.0:0.342:0.658	.	.	.	.	X	702;636;636;799;773;773;636;636;799;799;423	.	ENSP00000327209:K702X	K	-	1	0	PDE4DIP	143626876	0.574000	0.26684	0.776000	0.31678	0.900000	0.52787	0.520000	0.22878	0.888000	0.36160	0.529000	0.55759	AAA		PASS	0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		73	654	73	654	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145281550	145281550	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:145281550C>T	ENST00000369340.3	+	5	924	c.480C>T	c.(478-480)ctC>ctT	p.L160L	NOTCH2NL_ENST00000362074.6_Silent_p.L160L|RP11-458D21.5_ENST00000468030.1_Silent_p.L160L|NOTCH2NL_ENST00000344859.3_Silent_p.L160L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	160	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L160L(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCACCTGCCTCAACCTGCCTG	0.562																																						uc001emn.3																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(478-480)CTC>CTT		Notch homolog 2 N-terminal like protein							162.0	168.0	166.0					1																	145281550		2203	4300	6503	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281550C>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.480C>T	1.37:g.145281550C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L160L|NOTCH2NL_uc001emo.2_Silent_p.L160L|NOTCH2NL_uc010oyh.1_RNA	p.L160L	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	850	+			160			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.480C>T	CCDS909.1																																																																																				PASS	0.562	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		56	435	56	435	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477403	150477403	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:150477403C>T	ENST00000369064.3	+	16	1876	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	TARS2_ENST00000369054.2_Silent_p.F484F|TARS2_ENST00000606933.1_Silent_p.F532F	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	614					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.F614F(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGTCCCCGTTCCAGGTGGTGG	0.547																																						uc001euq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1840-1842)TTC>TTT		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						90.0	79.0	83.0					1																	150477403		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477403C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1842C>T	1.37:g.150477403C>T						TARS2_uc001eur.2_Silent_p.F532F|TARS2_uc009wlt.2_Silent_p.F240F|TARS2_uc009wls.2_Silent_p.F484F	p.F614F	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		16	1849	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		614					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1842C>T	CCDS952.1																																																																																				PASS	0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		22	147	22	147	---	---	---	---
TDRKH	11022	broad.mit.edu	37	1	151752598	151752598	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:151752598C>A	ENST00000368822.1	-	4	883	c.250G>T	c.(250-252)Gct>Tct	p.A84S	TDRKH_ENST00000368823.1_Missense_Mutation_p.A80S|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.A84S|TDRKH_ENST00000368824.3_Missense_Mutation_p.A84S|TDRKH_ENST00000458431.2_Missense_Mutation_p.A84S|TDRKH_ENST00000368827.6_Missense_Mutation_p.A84S			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	84	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.A84S(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCAATCCGAGCACCTGTCTGT	0.493																																						uc009wnb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(250-252)GCT>TCT		tudor and KH domain containing isoform a							142.0	141.0	141.0					1																	151752598		2062	4218	6280	SO:0001583	missense	11022						RNA binding	g.chr1:151752598C>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.250G>T	1.37:g.151752598C>A	ENSP00000357812:p.Ala84Ser					TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.3_Missense_Mutation_p.A80S|TDRKH_uc001ezc.3_Missense_Mutation_p.A84S|TDRKH_uc001eza.3_Missense_Mutation_p.A84S|TDRKH_uc001ezd.3_Missense_Mutation_p.A84S|TDRKH_uc010pdn.1_5'UTR	p.A84S	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	432	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		84			KH 1.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.250G>T	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168807	0.78339	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000526378	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	4.97	4.04	0.47022	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.111333	0.64402	D	0.000012	T	0.46718	0.1407	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.83275	0.994;0.996;0.956	T	0.52786	-0.8529	10	0.72032	D	0.01	-14.1086	13.3097	0.60374	0.0:0.8399:0.1601:0.0	.	84;80;84	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	S	84;84;84;80;84;84;84	ENSP00000357819:A84S;ENSP00000357817:A84S;ENSP00000357815:A84S;ENSP00000357813:A80S;ENSP00000357812:A84S;ENSP00000395718:A84S;ENSP00000431557:A84S	ENSP00000357812:A84S	A	-	1	0	TDRKH	150019222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.365000	0.66116	1.415000	0.47037	0.655000	0.94253	GCT		PASS	0.493	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		182	149	182	149	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156756874	156756874	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:156756874G>T	ENST00000271526.4	+	3	1263	c.991G>T	c.(991-993)Ggg>Tgg	p.G331W	PRCC_ENST00000353233.3_Missense_Mutation_p.G331W|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	331					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.G331W(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGTTCAAGTGGGGCCCCTTG	0.562			T	TFE3	papillary renal																																	uc001fqa.2				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal 	PRCC/TFE3(25)	1	Substitution - Missense(1)		lung(1)	kidney(25)|central_nervous_system(2)	27						c.(991-993)GGG>TGG		papillary renal cell carcinoma							144.0	154.0	151.0					1																	156756874		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756874G>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.991G>T	1.37:g.156756874G>T	ENSP00000271526:p.Gly331Trp					PRCC_uc001fqb.2_Missense_Mutation_p.G331W	p.G331W	NM_005973	NP_005964	Q92733	PRCC_HUMAN			3	1281	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		331					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.991G>T	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045789	0.75846	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T	0.47528	0.88;0.84	5.77	4.85	0.62838	.	0.173853	0.49916	D	0.000121	T	0.41419	0.1158	N	0.14661	0.345	0.37822	D	0.928415	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.98	T	0.49725	-0.8909	10	0.66056	D	0.02	-10.2537	12.9709	0.58511	0.0777:0.0:0.9223:0.0	.	331;331	A6NG79;Q92733	.;PRCC_HUMAN	W	331;331;275;70	ENSP00000271526:G331W;ENSP00000339300:G331W	ENSP00000271526:G331W	G	+	1	0	PRCC	155023498	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.819000	0.62664	2.727000	0.93392	0.655000	0.94253	GGG		PASS	0.562	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		465	372	465	372	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157659610	157659610	+	Silent	SNP	G	G	A	rs566843294		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:157659610G>A	ENST00000368184.3	-	10	2079	c.1788C>T	c.(1786-1788)taC>taT	p.Y596Y	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.Y596Y	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	596						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y596Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGCCCTGGCGTAATGCAGCA	0.537																																						uc001frb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(1786-1788)TAC>TAT		Fc receptor-like 3 precursor							103.0	89.0	94.0					1																	157659610		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157659610G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1788C>T	1.37:g.157659610G>A						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.Y596Y|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.Y322Y|FCRL3_uc001frc.1_Silent_p.Y596Y	p.Y596Y	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			10	2080	-	all_hematologic(112;0.0378)		596			Cytoplasmic (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1788C>T	CCDS1167.1																																																																																				PASS	0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		56	114	56	114	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196459055	196459055	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:196459055C>G	ENST00000294725.9	-	3	1103	c.188G>C	c.(187-189)cGc>cCc	p.R63P	KCNT2_ENST00000609185.1_Missense_Mutation_p.R63P|KCNT2_ENST00000367431.4_Missense_Mutation_p.R63P|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R63P			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	63					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R63P(1)|p.R63H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289																																						uc001gtd.1																			2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(187-189)CGC>CCC		potassium channel, subfamily T, member 2							90.0	97.0	94.0					1																	196459055		2203	4291	6494	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196459055C>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.188G>C	1.37:g.196459055C>G	ENSP00000294725:p.Arg63Pro					KCNT2_uc001gte.1_Missense_Mutation_p.R63P|KCNT2_uc001gtf.1_Missense_Mutation_p.R63P|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R63P|KCNT2_uc009wyv.1_Missense_Mutation_p.R63P	p.R63P	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			3	248	-			63			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.188G>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410998	0.83340	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21734	1.99;2.02;2.25	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.51856	0.1699	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.991;1.0	D;D;D;D	0.81914	0.983;0.995;0.951;0.983	T	0.54549	-0.8277	10	0.52906	T	0.07	-6.2909	17.1485	0.86772	0.0:1.0:0.0:0.0	.	63;63;63;63	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	P	63	ENSP00000356403:R63P;ENSP00000356401:R63P;ENSP00000294725:R63P	ENSP00000294725:R63P	R	-	2	0	KCNT2	194725678	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.744000	0.74854	2.723000	0.93209	0.655000	0.94253	CGC		PASS	0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		114	241	114	241	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197019841	197019841	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:197019841G>A	ENST00000367412.1	-	10	1767	c.1724C>T	c.(1723-1725)cCa>cTa	p.P575L	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	575	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.P575L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACACAATGGTGGTGTAGTCCA	0.328																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1723-1725)CCA>CTA		coagulation factor XIII B subunit precursor							81.0	80.0	80.0					1																	197019841		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197019841G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1724C>T	1.37:g.197019841G>A	ENSP00000356382:p.Pro575Leu						p.P575L	NM_001994	NP_001985	P05160	F13B_HUMAN			10	1768	-			575			Sushi 9.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1724C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633389	0.47049	.	.	ENSG00000143278	ENST00000367412	T	0.65732	-0.17	5.68	4.77	0.60923	Complement control module (2);Sushi/SCR/CCP (3);	0.267267	0.20093	N	0.099399	T	0.78240	0.4252	M	0.75447	2.3	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.78833	-0.2048	10	0.48119	T	0.1	.	14.3791	0.66900	0.071:0.0:0.929:0.0	.	575	P05160	F13B_HUMAN	L	575	ENSP00000356382:P575L	ENSP00000356382:P575L	P	-	2	0	F13B	195286464	1.000000	0.71417	0.089000	0.20774	0.284000	0.27059	3.699000	0.54778	1.397000	0.46682	0.591000	0.81541	CCA		PASS	0.328	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		86	95	86	95	---	---	---	---
NR5A2	2494	broad.mit.edu	37	1	200017659	200017659	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:200017659G>A	ENST00000367362.3	+	5	1069	c.823G>A	c.(823-825)Gac>Aac	p.D275N	NR5A2_ENST00000236914.3_Missense_Mutation_p.D229N|NR5A2_ENST00000544748.1_Missense_Mutation_p.D203N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	275					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D275N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TGAGTACCCAGACCCCTATAC	0.512																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(823-825)GAC>AAC		nuclear receptor subfamily 5, group A, member 2							71.0	72.0	72.0					1																	200017659		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017659G>A	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.823G>A	1.37:g.200017659G>A	ENSP00000356331:p.Asp275Asn					NR5A2_uc001gvc.2_Missense_Mutation_p.D229N|NR5A2_uc009wzh.2_Missense_Mutation_p.D235N|NR5A2_uc010pph.1_Missense_Mutation_p.D203N	p.D275N	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	1029	+	Prostate(682;0.19)		275					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.823G>A	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796052	0.70567	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	D;D;D	0.94232	-3.33;-3.37;-3.38	5.2	5.2	0.72013	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	L	0.52573	1.65	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.17433	0.015;0.018	D	0.87153	0.2210	9	.	.	.	.	19.0965	0.93253	0.0:0.0:1.0:0.0	.	229;275	F1D8R9;O00482	.;NR5A2_HUMAN	N	275;229;203;195	ENSP00000356331:D275N;ENSP00000236914:D229N;ENSP00000439116:D203N	.	D	+	1	0	NR5A2	198284282	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.358000	0.97109	2.594000	0.87642	0.563000	0.77884	GAC		PASS	0.512	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			100	151	100	151	---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201195001	201195001	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:201195001G>T	ENST00000295591.8	+	21	10470	c.1820G>T	c.(1819-1821)gGa>gTa	p.G607V	IGFN1_ENST00000335211.4_Silent_p.G3512G|RP11-567E21.3_ENST00000453155.1_RNA			Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)		p.G672G(2)|p.G3512G(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACGTGCCTGGGACGGTGACGG	0.687																																						uc001gwc.2																			4	Substitution - coding silent(4)		large_intestine(2)|lung(2)	ovary(2)|pancreas(1)	3						c.(2014-2016)GGG>GGT		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							44.0	41.0	42.0					1																	201195001		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201195001G>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000295591.8:c.1820G>T	1.37:g.201195001G>T	ENSP00000295591:p.Gly607Val					IGFN1_uc001gwb.2_RNA	p.G672G	NM_178275	NP_840059					11	2788	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000295591.8	37	c.2016G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.93|11.93	1.786917|1.786917	0.31593|0.31593	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000295591	.|T	.|0.53857	.|0.6	5.19|5.19	-0.263|-0.263	0.12954|0.12954	.|.	.|0.124363	.|0.53938	.|D	.|0.000050	T|T	0.48978|0.48978	0.1530|0.1530	.|.	.|.	.|.	0.36988|0.36988	D|D	0.894669|0.894669	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51616|0.51616	-0.8683|-0.8683	4|7	.|0.87932	.|D	.|0	.|.	1.961|1.961	0.03386|0.03386	0.1415:0.3156:0.2546:0.2883|0.1415:0.3156:0.2546:0.2883	.|.	.|.	.|.	.|.	Y|V	930|607	.|ENSP00000295591:G607V	.|ENSP00000295591:G607V	D|G	+|+	1|2	0|0	IGFN1|IGFN1	199461624|199461624	0.234000|0.234000	0.23783|0.23783	0.282000|0.282000	0.24776|0.24776	0.448000|0.448000	0.32197|0.32197	-0.588000|-0.588000	0.05774|0.05774	0.047000|0.047000	0.15862|0.15862	-0.304000|-0.304000	0.09214|0.09214	GAC|GGA		PASS	0.687	IGFN1-201	KNOWN	basic	protein_coding	protein_coding		NM_178275		35	41	35	41	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204409374	204409374	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:204409374C>A	ENST00000367187.3	-	23	3881	c.3325G>T	c.(3325-3327)Ggg>Tgg	p.G1109W	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G1081W	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1109	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.G1109W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGTCCAGCCCCTCCTGGACC	0.607																																						uc001haw.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(3325-3327)GGG>TGG		phosphoinositide-3-kinase, class 2 beta							140.0	122.0	128.0					1																	204409374		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409374C>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3325G>T	1.37:g.204409374C>A	ENSP00000356155:p.Gly1109Trp					PIK3C2B_uc010pqv.1_Missense_Mutation_p.G1081W	p.G1109W	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3804	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1109			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3325G>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351789	0.95830	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.82711	-1.64;-1.64	6.06	6.06	0.98353	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95603	0.8665	10	0.87932	D	0	.	20.2194	0.98323	0.0:1.0:0.0:0.0	.	1081;1109	F5GWN5;O00750	.;P3C2B_HUMAN	W	1109;1081	ENSP00000356155:G1109W;ENSP00000400561:G1081W	ENSP00000356155:G1109W	G	-	1	0	PIK3C2B	202675997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	GGG		PASS	0.607	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		131	122	131	122	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204587979	204587979	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:204587979T>C	ENST00000367175.1	-	1	3354	c.1142A>G	c.(1141-1143)aAt>aGt	p.N381S	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Missense_Mutation_p.N381S|LRRN2_ENST00000367177.3_Missense_Mutation_p.N381S|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	381	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.N381S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCCGTGGCATTGGCCCAGCG	0.672																																						uc001hbe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1141-1143)AAT>AGT		leucine rich repeat neuronal 2 precursor							70.0	74.0	73.0					1																	204587979		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587979T>C	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1142A>G	1.37:g.204587979T>C	ENSP00000356143:p.Asn381Ser					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.N381S|LRRN2_uc009xbf.1_Missense_Mutation_p.N381S|MDM4_uc001hbc.2_Intron	p.N381S	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	1530	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		381			Extracellular (Potential).|LRRCT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1142A>G	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450590	0.26074	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.22539	1.95;1.95;1.95	5.69	5.69	0.88448	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.46758	D	0.000274	T	0.22589	0.0545	L	0.28274	0.84	0.36170	D	0.848683	D	0.59357	0.985	P	0.55749	0.783	T	0.15896	-1.0421	10	0.15066	T	0.55	.	10.0517	0.42219	0.0:0.0758:0.0:0.9242	.	381	O75325	LRRN2_HUMAN	S	381	ENSP00000356144:N381S;ENSP00000356145:N381S;ENSP00000356143:N381S	ENSP00000356143:N381S	N	-	2	0	LRRN2	202854602	0.985000	0.35326	0.992000	0.48379	0.990000	0.78478	2.169000	0.42434	2.171000	0.68590	0.460000	0.39030	AAT		PASS	0.672	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		64	85	64	85	---	---	---	---
RCOR3	55758	broad.mit.edu	37	1	211452590	211452590	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:211452590G>C	ENST00000367005.4	+	6	619	c.478G>C	c.(478-480)Gta>Cta	p.V160L	RCOR3_ENST00000367006.4_Missense_Mutation_p.V218L|RCOR3_ENST00000452621.2_Missense_Mutation_p.V218L|RCOR3_ENST00000419091.2_Missense_Mutation_p.V218L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V160L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TGATGATGATGTAGAAGAAAC	0.348																																						uc001hig.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)GTA>CTA		REST corepressor 3 isoform d							121.0	108.0	112.0					1																	211452590		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211452590G>C	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.478G>C	1.37:g.211452590G>C	ENSP00000355972:p.Val160Leu					RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.V218L|RCOR3_uc010psw.1_Missense_Mutation_p.V218L|RCOR3_uc001hif.2_Missense_Mutation_p.V218L	p.V160L	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	6	647	+			160					B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.478G>C	CCDS31016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.327864|1.327864	0.24080|0.24080	.|.	.|.	ENSG00000117625|ENSG00000117625	ENST00000534460|ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	.|T;T;T;T	.|0.39406	.|1.08;1.08;1.08;1.08	5.69|5.69	4.77|4.77	0.60923|0.60923	.|.	.|0.046674	.|0.85682	.|D	.|0.000000	T|T	0.26882|0.26882	0.0658|0.0658	N|N	0.12746|0.12746	0.255|0.255	0.43296|0.43296	D|D	0.99528|0.99528	.|B;B;B;B	.|0.19445	.|0.005;0.001;0.036;0.003	.|B;B;B;B	.|0.21360	.|0.011;0.004;0.034;0.011	T|T	0.04242|0.04242	-1.0966|-1.0966	5|10	.|0.27785	.|T	.|0.31	-6.0276|-6.0276	14.5033|14.5033	0.67737|0.67737	0.0707:0.0:0.9293:0.0|0.0707:0.0:0.9293:0.0	.|.	.|218;160;218;218	.|Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.|.;RCOR3_HUMAN;.;.	S|L	4|218;218;218;160	.|ENSP00000355973:V218L;ENSP00000398558:V218L;ENSP00000413929:V218L;ENSP00000355972:V160L	.|ENSP00000355972:V160L	C|V	+|+	2|1	0|0	RCOR3|RCOR3	209519213|209519213	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.003000|0.003000	0.03518|0.03518	5.685000|5.685000	0.68204|0.68204	1.404000|1.404000	0.46819|0.46819	0.555000|0.555000	0.69702|0.69702	TGT|GTA		PASS	0.348	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		66	147	66	147	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215844328	215844328	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:215844328C>G	ENST00000307340.3	-	64	14505	c.14119G>C	c.(14119-14121)Gag>Cag	p.E4707Q	USH2A_ENST00000366943.2_Missense_Mutation_p.E4707Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4707	Fibronectin type-III 32. {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.E4707Q(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)		TACTCATACTCTGTGAAAGGC	0.383										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14119-14121)GAG>CAG		usherin isoform B							129.0	132.0	131.0					1																	215844328		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844328C>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.14119G>C	1.37:g.215844328C>G	ENSP00000305941:p.Glu4707Gln	HNSCC(13;0.011)					p.E4707Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14506	-			4707			Fibronectin type-III 32.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14119G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113880	0.37339	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58060	0.36;0.36	5.21	4.3	0.51218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000586	T	0.55226	0.1907	L	0.49126	1.545	0.30374	N	0.782589	D	0.54772	0.968	P	0.52031	0.688	T	0.55755	-0.8091	10	0.20046	T	0.44	.	13.858	0.63542	0.0:0.9264:0.0:0.0736	.	4707	O75445	USH2A_HUMAN	Q	4707	ENSP00000305941:E4707Q;ENSP00000355910:E4707Q	ENSP00000305941:E4707Q	E	-	1	0	USH2A	213910951	0.348000	0.24861	0.995000	0.50966	0.988000	0.76386	1.295000	0.33377	1.324000	0.45282	0.650000	0.86243	GAG		PASS	0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		109	468	109	468	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235969541	235969541	+	Silent	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:235969541A>T	ENST00000389794.3	-	6	3069	c.2895T>A	c.(2893-2895)tcT>tcA	p.S965S	LYST_ENST00000389793.2_Silent_p.S965S|LYST_ENST00000536965.1_Silent_p.S965S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	965					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S965S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACGACACATAGACCAAATGT	0.423																																						uc001hxj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2893-2895)TCT>TCA		lysosomal trafficking regulator							102.0	99.0	100.0					1																	235969541		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969541A>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2895T>A	1.37:g.235969541A>T						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.S965S	p.S965S	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3070	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	965					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.2895T>A	CCDS31062.1																																																																																				PASS	0.423	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			208	187	208	187	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237711812	237711812	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:237711812G>A	ENST00000366574.2	+	26	3305	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	RYR2_ENST00000360064.6_Silent_p.V994V|RYR2_ENST00000542537.1_Silent_p.V980V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	996	4 X approximate repeats.				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.V994V(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)			AAGCAATGGTGGACAAGTTGG	0.488																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2986-2988)GTG>GTA		cardiac muscle ryanodine receptor							68.0	63.0	64.0					1																	237711812		1928	4140	6068	SO:0001819	synonymous_variant	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.chr1:237711812G>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.2988G>A	1.37:g.237711812G>A							p.V996V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3108	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	996			Cytoplasmic (By similarity).|2.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2988G>A	CCDS55691.1																																																																																				PASS	0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		70	44	70	44	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246797278	246797278	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:246797278G>A	ENST00000366513.4	+	5	938	c.669G>A	c.(667-669)ttG>ttA	p.L223L	CNST_ENST00000366512.3_Silent_p.L223L|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	223					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.L223L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ATGAGCAATTGCTCGCAAATC	0.343																																						uc001ibp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(667-669)TTG>TTA		hypothetical protein LOC163882 isoform 1							112.0	112.0	112.0					1																	246797278		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246797278G>A	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.669G>A	1.37:g.246797278G>A						CNST_uc001ibo.3_Silent_p.L223L	p.L223L	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			5	1047	+			223					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.669G>A	CCDS1628.1																																																																																				PASS	0.343	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		89	83	89	83	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769302	247769302	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:247769302C>A	ENST00000320002.2	+	1	447	c.415C>A	c.(415-417)Cgg>Agg	p.R139R	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			CATGAACCCACGGCTTTGCCA	0.512																																						uc010pyz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(415-417)CGG>AGG		olfactory receptor, family 2, subfamily G,							189.0	174.0	179.0					1																	247769302		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769302C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.415C>A	1.37:g.247769302C>A							p.R139R	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	415	+	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)		139			Cytoplasmic (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.415C>A	CCDS31093.1																																																																																				PASS	0.512	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			211	353	211	353	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004491	248004491	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:248004491C>A	ENST00000355784.2	-	1	763	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	236						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAAAAGGTCTTTCTCCGGC	0.502																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(706-708)AAG>AAT		olfactory receptor, family 11, subfamily L,							103.0	103.0	103.0					1																	248004491		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004491C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.708G>T	1.37:g.248004491C>A	ENSP00000348033:p.Lys236Asn						p.K236N	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	708	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		236			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.708G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706808	0.30232	.	.	ENSG00000197591	ENST00000355784	T	0.00374	7.72	4.42	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35970	U	0.002865	T	0.01222	0.0040	M	0.93106	3.38	0.32649	N	0.519607	D	0.89917	1.0	D	0.87578	0.998	T	0.05354	-1.0890	10	0.87932	D	0	.	10.1263	0.42652	0.0:0.83:0.0:0.17	.	236	Q8NGX0	O11L1_HUMAN	N	236	ENSP00000348033:K236N	ENSP00000348033:K236N	K	-	3	2	OR11L1	246071114	0.997000	0.39634	0.138000	0.22173	0.114000	0.19823	0.277000	0.18734	1.229000	0.43630	0.543000	0.68304	AAG		PASS	0.502	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		81	149	81	149	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004498	248004498	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:248004498C>T	ENST00000355784.2	-	1	756	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTCTTTCTCCGGCCAGAGGT	0.502																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(700-702)CGG>CAG		olfactory receptor, family 11, subfamily L,							95.0	95.0	95.0					1																	248004498		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004498C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.701G>A	1.37:g.248004498C>T	ENSP00000348033:p.Arg234Gln						p.R234Q	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	701	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		234			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.701G>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	5.680	0.310005	0.10733	.	.	ENSG00000197591	ENST00000355784	T	0.00311	8.15	4.42	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.246709	0.20079	N	0.099687	T	0.00241	0.0007	L	0.60904	1.88	0.09310	N	1	B	0.31625	0.332	B	0.35312	0.2	T	0.30765	-0.9967	10	0.51188	T	0.08	.	9.5208	0.39133	0.0:0.768:0.0:0.232	.	234	Q8NGX0	O11L1_HUMAN	Q	234	ENSP00000348033:R234Q	ENSP00000348033:R234Q	R	-	2	0	OR11L1	246071121	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.187000	0.03067	0.240000	0.21263	-0.300000	0.09419	CGG		PASS	0.502	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		140	107	140	107	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308605	248308605	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:248308605C>G	ENST00000366476.1	+	1	156	c.156C>G	c.(154-156)gaC>gaG	p.D52E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TCTACCTGGACACCCAGCTCC	0.527																																						uc010pze.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(154-156)GAC>GAG		olfactory receptor, family 2, subfamily M,							304.0	289.0	294.0					1																	248308605		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308605C>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.156C>G	1.37:g.248308605C>G	ENSP00000355432:p.Asp52Glu						p.D52E	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	156	+	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)		52			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.156C>G	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	4.769	0.143038	0.09083	.	.	ENSG00000162727	ENST00000366476	T	0.00856	5.61	3.28	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	0.500767	0.14760	U	0.300038	T	0.01695	0.0054	M	0.75264	2.295	0.09310	N	1	B	0.27679	0.185	B	0.32342	0.144	T	0.29640	-1.0005	10	0.59425	D	0.04	.	9.6216	0.39725	0.0:0.6725:0.0:0.3275	.	52	A3KFT3	OR2M5_HUMAN	E	52	ENSP00000355432:D52E	ENSP00000355432:D52E	D	+	3	2	OR2M5	246375228	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-4.817000	0.00182	-0.245000	0.09625	-2.245000	0.00285	GAC		PASS	0.527	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		268	577	268	577	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525260	248525260	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:248525260C>T	ENST00000366475.1	+	1	378	c.378C>T	c.(376-378)gcC>gcT	p.A126A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A126A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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;0.0265)			AGATCTCAGCCCCTGAGTGTG	0.498																																						uc001ieh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(376-378)GCC>GCT		olfactory receptor, family 2, subfamily T,							237.0	192.0	207.0					1																	248525260		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525260C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.378C>T	1.37:g.248525260C>T							p.A126A	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	378	+	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)		126			Extracellular (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.378C>T	CCDS31113.1																																																																																				PASS	0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		417	318	417	318	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685489	248685489	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:248685489T>C	ENST00000343414.4	+	1	574	c.542T>C	c.(541-543)gTg>gCg	p.V181A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V181A(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTGTGAGGTGCCAGTGCTC	0.522																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(541-543)GTG>GCG		olfactory receptor, family 2, subfamily G,							116.0	109.0	111.0					1																	248685489		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685489T>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.542T>C	1.37:g.248685489T>C	ENSP00000341291:p.Val181Ala						p.V181A	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	542	+	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)	all_cancers(173;0.0156)	181			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.542T>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	15.28	2.787694	0.49997	.	.	ENSG00000188558	ENST00000343414	T	0.38077	1.16	3.68	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001220	T	0.51432	0.1674	M	0.64260	1.97	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.24225	-1.0166	10	0.66056	D	0.02	.	8.3849	0.32494	0.1747:0.0:0.0:0.8253	.	181	Q5TZ20	OR2G6_HUMAN	A	181	ENSP00000341291:V181A	ENSP00000341291:V181A	V	+	2	0	OR2G6	246752112	0.000000	0.05858	0.979000	0.43373	0.841000	0.47740	0.220000	0.17660	1.523000	0.49018	0.329000	0.21502	GTG		PASS	0.522	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		127	84	127	84	---	---	---	---
RSAD2	91543	broad.mit.edu	37	2	7036064	7036064	+	Silent	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:7036064G>C	ENST00000382040.3	+	6	1213	c.1077G>C	c.(1075-1077)ctG>ctC	p.L359L	RSAD2_ENST00000541728.1_Silent_p.L252L	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.L359L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ATCTGAAGCTGGATTGGTAGA	0.423																																						uc002qyp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1075-1077)CTG>CTC		radical S-adenosyl methionine domain containing							85.0	82.0	83.0					2																	7036064		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7036064G>C	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.1077G>C	2.37:g.7036064G>C							p.L359L	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	6	1213	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		359						Silent	SNP	ENST00000382040.3	37	c.1077G>C	CCDS1656.1																																																																																				PASS	0.423	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		66	88	66	88	---	---	---	---
APOB	338	broad.mit.edu	37	2	21225147	21225147	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:21225147C>A	ENST00000233242.1	-	29	13274	c.13147G>T	c.(13147-13149)Gcc>Tcc	p.A4383S	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4383					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A4383S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACGAAGGGCCATAATGTAT	0.353																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13147-13149)GCC>TCC		apolipoprotein B precursor	Atorvastatin(DB01076)						55.0	58.0	57.0					2																	21225147		2202	4300	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225147C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13147G>T	2.37:g.21225147C>A	ENSP00000233242:p.Ala4383Ser						p.A4383S	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13275	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4383					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13147G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548138	0.45383	.	.	ENSG00000084674	ENST00000233242	T	0.37235	1.21	5.9	3.1	0.35709	.	0.343379	0.24547	N	0.037589	T	0.30759	0.0775	L	0.58101	1.795	0.48395	D	0.999648	B	0.23540	0.087	B	0.24541	0.054	T	0.06215	-1.0839	10	0.24483	T	0.36	.	7.7985	0.29160	0.2302:0.6439:0.0:0.1259	.	4383	P04114	APOB_HUMAN	S	4383	ENSP00000233242:A4383S	ENSP00000233242:A4383S	A	-	1	0	APOB	21078652	0.039000	0.19947	0.134000	0.22075	0.463000	0.32649	0.066000	0.14489	0.820000	0.34516	0.591000	0.81541	GCC		PASS	0.353	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	170	4	170	---	---	---	---
CAD	790	broad.mit.edu	37	2	27465570	27465570	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:27465570G>T	ENST00000403525.1	+	40	6260	c.6116G>T	c.(6115-6117)cGc>cTc	p.R2039L	CAD_ENST00000264705.4_Missense_Mutation_p.R2102L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R2102L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCTGCGCTACGTGGCA	0.637																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(6304-6306)CGC>CTC		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						88.0	79.0	82.0					2																	27465570		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465570G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6116G>T	2.37:g.27465570G>T	ENSP00000384510:p.Arg2039Leu					CAD_uc010eyw.2_Missense_Mutation_p.R2039L	p.R2102L	NM_004341	NP_004332	P27708	PYR1_HUMAN			41	6467	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2102			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.6305G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.305806|4.305806	0.81247|0.81247	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000428460|ENST00000264705;ENST00000403525	.|D;D	.|0.99014	.|-5.33;-5.33	5.21|5.21	4.33|4.33	0.51752|0.51752	.|Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98385|0.98385	0.9463|0.9463	M|M	0.69248|0.69248	2.105|2.105	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.43169	.|0.648;0.8	.|B;P	.|0.48304	.|0.283;0.573	D|D	0.98143|0.98143	1.0437|1.0437	5|10	.|0.66056	.|D	.|0.02	-15.8494|-15.8494	12.4963|12.4963	0.55929|0.55929	0.0819:0.0:0.9181:0.0|0.0819:0.0:0.9181:0.0	.|.	.|2039;2102	.|F8VPD4;P27708	.|.;PYR1_HUMAN	S|L	138|2102;2039	.|ENSP00000264705:R2102L;ENSP00000384510:R2039L	.|ENSP00000264705:R2102L	A|R	+|+	1|2	0|0	CAD|CAD	27319074|27319074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	9.160000|9.160000	0.94734|0.94734	1.192000|1.192000	0.43071|0.43071	0.462000|0.462000	0.41574|0.41574	GCT|CGC		PASS	0.637	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			47	34	47	34	---	---	---	---
LCLAT1	253558	broad.mit.edu	37	2	30863187	30863187	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:30863187G>T	ENST00000309052.4	+	7	1156	c.947G>T	c.(946-948)cGt>cTt	p.R316L	LCLAT1_ENST00000540623.1_Missense_Mutation_p.R278L|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R278L|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	316					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R316L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GAGAGGCTGCGTTCCTTCTAT	0.488																																						uc002rnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(946-948)CGT>CTT		lysocardiolipin acyltransferase 1 isoform 1							117.0	109.0	111.0					2																	30863187		2203	4300	6503	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30863187G>T	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.947G>T	2.37:g.30863187G>T	ENSP00000310551:p.Arg316Leu					LCLAT1_uc010ymp.1_Missense_Mutation_p.R154L|LCLAT1_uc002rnl.2_Missense_Mutation_p.R278L|LCLAT1_uc010ymq.1_Missense_Mutation_p.R278L	p.R316L	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN			7	1156	+			316					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.947G>T	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138611	0.37728	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.41758	0.99;0.99;0.99	5.77	4.89	0.63831	.	0.158299	0.64402	D	0.000013	T	0.36826	0.0981	L	0.58101	1.795	0.53005	D	0.999969	P	0.39551	0.678	B	0.29353	0.101	T	0.34403	-0.9830	10	0.54805	T	0.06	-16.5655	14.4664	0.67488	0.0699:0.0:0.9301:0.0	.	316	Q6UWP7	LCLT1_HUMAN	L	278;278;316;278	ENSP00000368823:R278L;ENSP00000310551:R316L;ENSP00000442857:R278L	ENSP00000310551:R316L	R	+	2	0	LCLAT1	30716691	1.000000	0.71417	0.893000	0.35052	0.211000	0.24417	3.774000	0.55341	1.440000	0.47531	0.557000	0.71058	CGT		PASS	0.488	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		95	97	95	97	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33745744	33745744	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:33745744T>C	ENST00000403687.3	+	6	1101	c.361T>C	c.(361-363)Tcc>Ccc	p.S121P	RASGRP3_ENST00000402538.3_Missense_Mutation_p.S121P|RASGRP3_ENST00000407811.1_Missense_Mutation_p.S121P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	121	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.S121P(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CATCGACATATCCAGCATGTA	0.453																																						uc002rox.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(361-363)TCC>CCC		RAS guanyl releasing protein 3 (calcium and							180.0	172.0	175.0					2																	33745744		2013	4172	6185	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745744T>C	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.361T>C	2.37:g.33745744T>C	ENSP00000384192:p.Ser121Pro					RASGRP3_uc010ync.1_Missense_Mutation_p.S121P|RASGRP3_uc002roy.2_Missense_Mutation_p.S121P	p.S121P	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			7	988	+	all_hematologic(175;0.115)		121			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.361T>C	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	T	33	5.260725	0.95368	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000407811	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.58	5.58	0.84498	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.059919	0.64402	D	0.000002	T	0.44456	0.1294	L	0.46614	1.455	0.58432	D	0.999999	D;D	0.58620	0.983;0.983	P;P	0.57620	0.824;0.824	T	0.31194	-0.9952	10	0.51188	T	0.08	-14.5717	15.7616	0.78087	0.0:0.0:0.0:1.0	.	121;121	D6W583;Q8IV61	.;GRP3_HUMAN	P	121	ENSP00000385886:S121P;ENSP00000393866:S121P;ENSP00000384192:S121P;ENSP00000383917:S121P	ENSP00000385886:S121P	S	+	1	0	RASGRP3	33599248	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.522000	0.45572	2.121000	0.65114	0.533000	0.62120	TCC		PASS	0.453	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		88	223	88	223	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656773	40656773	+	Silent	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:40656773G>T	ENST00000403092.1	-	2	681	c.648C>A	c.(646-648)acC>acA	p.T216T	SLC8A1_ENST00000406785.2_Silent_p.T216T|SLC8A1_ENST00000542756.1_Silent_p.T216T|SLC8A1_ENST00000402441.1_Silent_p.T216T|SLC8A1_ENST00000542024.1_Silent_p.T216T|SLC8A1_ENST00000405269.1_Silent_p.T216T|SLC8A1_ENST00000408028.2_Silent_p.T216T|SLC8A1_ENST00000405901.3_Silent_p.T216T|SLC8A1_ENST00000406391.2_Silent_p.T216T|SLC8A1_ENST00000332839.4_Silent_p.T216T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	216					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.T216T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTAAAGCCAGGTGTAGGCAA	0.453																																						uc002rrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(646-648)ACC>ACA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						60.0	63.0	62.0					2																	40656773		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656773G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.648C>A	2.37:g.40656773G>T						SLC8A1_uc002rry.2_Silent_p.T216T|SLC8A1_uc002rrz.2_Silent_p.T216T|SLC8A1_uc002rsa.2_Silent_p.T216T|SLC8A1_uc002rsd.3_Silent_p.T216T|SLC8A1_uc002rsb.1_Silent_p.T216T|SLC8A1_uc010fan.1_Silent_p.T216T|SLC8A1_uc002rsc.1_Silent_p.T216T	p.T216T	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	672	-			216			Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.648C>A	CCDS1806.1																																																																																				PASS	0.453	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		39	92	39	92	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452044	43452044	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:43452044G>C	ENST00000282388.3	-	2	1192	c.899C>G	c.(898-900)tCc>tGc	p.S300C	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	300					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S300C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ggcggaggaggagcaggacga	0.781																																						uc002rsv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)TCC>TGC		zinc finger protein 36, C3H type-like 2							16.0	26.0	22.0					2																	43452044		2139	4169	6308	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452044G>C	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.899C>G	2.37:g.43452044G>C	ENSP00000282388:p.Ser300Cys					LOC100129726_uc010ynx.1_5'Flank	p.S300C	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1190	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	300					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.899C>G	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167901	0.38315	.	.	ENSG00000152518	ENST00000282388	T	0.49432	0.78	4.21	4.21	0.49690	.	.	.	.	.	T	0.34366	0.0895	N	0.19112	0.55	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.19811	-1.0294	9	0.56958	D	0.05	-21.6947	13.4929	0.61407	0.0:0.0:1.0:0.0	.	300	P47974	TISD_HUMAN	C	300	ENSP00000282388:S300C	ENSP00000282388:S300C	S	-	2	0	ZFP36L2	43305548	1.000000	0.71417	0.999000	0.59377	0.494000	0.33585	3.978000	0.56881	1.895000	0.54865	0.561000	0.74099	TCC		PASS	0.781	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		6	8	6	8	---	---	---	---
TIA1	7072	broad.mit.edu	37	2	70443373	70443373	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:70443373C>T	ENST00000433529.2	-	10	941	c.731G>A	c.(730-732)cGa>cAa	p.R244Q	TIA1_ENST00000445587.1_Missense_Mutation_p.R233Q|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000482876.1_5'UTR|TIA1_ENST00000415783.2_Missense_Mutation_p.R233Q|TIA1_ENST00000282574.4_Missense_Mutation_p.R244Q	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	244	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.R244Q(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGGAAAGACTCGAATTTCCAT	0.289																																						uc002sgj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)CGA>CAA		TIA1 cytotoxic granule-associated RNA binding							43.0	41.0	42.0					2																	70443373		2202	4300	6502	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70443373C>T		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.731G>A	2.37:g.70443373C>T	ENSP00000401371:p.Arg244Gln					TIA1_uc002sgk.3_Missense_Mutation_p.R233Q|TIA1_uc002sgl.3_RNA	p.R244Q	NM_022173	NP_071505	P31483	TIA1_HUMAN			10	948	-			244			RRM 3.		Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.731G>A	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051282	0.75960	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587;ENST00000454815	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.35	4.48	0.54585	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.192905	0.45867	D	0.000337	T	0.41834	0.1176	M	0.78344	2.41	0.80722	D	1	D;D	0.65815	0.995;0.995	P;D	0.72625	0.883;0.978	T	0.41910	-0.9482	10	0.87932	D	0	-7.269	12.8606	0.57911	0.0:0.9212:0.0:0.0788	.	233;244	P31483-2;P31483	.;TIA1_HUMAN	Q	244;233;322;244;233;15	ENSP00000401371:R244Q;ENSP00000404023:R233Q;ENSP00000282574:R244Q;ENSP00000399567:R233Q;ENSP00000402263:R15Q	ENSP00000282574:R244Q	R	-	2	0	TIA1	70296877	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.609000	0.82925	1.497000	0.48584	-0.229000	0.12294	CGA		PASS	0.289	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		20	25	20	25	---	---	---	---
EXOC6B	23233	broad.mit.edu	37	2	72719551	72719551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:72719551C>A	ENST00000272427.6	-	16	1691	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*	EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.E521*	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	521					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.E521*(1)|p.E58*(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCATCAACTTCAGTTGAGCTG	0.388																																						uc010fep.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(2)	2						c.(1561-1563)GAA>TAA		SEC15-like 2							112.0	109.0	110.0					2																	72719551		1874	4100	5974	SO:0001587	stop_gained	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72719551C>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1561G>T	2.37:g.72719551C>A	ENSP00000272427:p.Glu521*					EXOC6B_uc002sij.2_Nonsense_Mutation_p.E521*	p.E521*	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			16	1699	-			521					B8ZZY3	Nonsense_Mutation	SNP	ENST00000272427.6	37	c.1561G>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.488707	0.98316	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.6605	0.77182	0.0:1.0:0.0:0.0	.	.	.	.	X	521	.	ENSP00000272427:E521X	E	-	1	0	EXOC6B	72573059	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.103000	0.77014	2.556000	0.86216	0.491000	0.48974	GAA		PASS	0.388	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		93	177	93	177	---	---	---	---
BOLA3	388962	broad.mit.edu	37	2	74372367	74372367	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:74372367G>C	ENST00000327428.5	-	2	237	c.118C>G	c.(118-120)Ctc>Gtc	p.L40V	BOLA3-AS1_ENST00000423477.2_RNA|BOLA3-AS1_ENST00000533563.1_RNA|BOLA3_ENST00000295326.4_Missense_Mutation_p.L40V|BOLA3-AS1_ENST00000529783.1_RNA	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	40						extracellular region (GO:0005576)		p.L40V(1)		large_intestine(1)|lung(1)	2						TTTTCTTTGAGAATTTGGGTC	0.483																																						uc002skc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)CTC>GTC		bolA-like 3 isoform 1							100.0	98.0	99.0					2																	74372367		2203	4300	6503	SO:0001583	missense	388962					extracellular region		g.chr2:74372367G>C	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.118C>G	2.37:g.74372367G>C	ENSP00000331369:p.Leu40Val					BOLA3_uc002skd.1_Missense_Mutation_p.L40V|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank	p.L40V	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN			2	156	-			40					G3XAB0	Missense_Mutation	SNP	ENST00000327428.5	37	c.118C>G	CCDS33225.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746398	0.69418	.	.	ENSG00000163170	ENST00000327428;ENST00000295326	T	0.76578	-1.03	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	M	0.90252	3.1	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91667	0.5347	10	0.87932	D	0	-21.1602	15.8582	0.79000	0.0:0.0:1.0:0.0	.	40;40	G3XAB0;Q53S33	.;BOLA3_HUMAN	V	40	ENSP00000331369:L40V	ENSP00000295326:L40V	L	-	1	0	BOLA3	74225875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.449000	0.66619	2.702000	0.92279	0.655000	0.94253	CTC		PASS	0.483	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2	NM_212552		51	127	51	127	---	---	---	---
IGKV1D-43	28891	broad.mit.edu	37	2	90249302	90249302	+	RNA	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:90249302C>A	ENST00000468879.1	+	0	439									immunoglobulin kappa variable 1D-43																		GGTTCAGCGGCAGTGGATCTG	0.468																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							177.0	170.0	172.0					2																	90249302		1891	4106	5997			0							g.chr2:90249302C>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249302C>A														28		+									RNA	SNP	ENST00000468879.1	37	c.3845C>A																																																																																					PASS	0.468	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		131	26	131	26	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95540614	95540614	+	Silent	SNP	G	G	A	rs111598357	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:95540614G>A	ENST00000295201.4	+	4	944	c.807G>A	c.(805-807)ctG>ctA	p.L269L	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	269					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L269L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGCGGGTGCTGGTGGACTGCA	0.716																																						uc002stw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(805-807)CTG>CTA		tektin 4							25.0	30.0	28.0					2																	95540614		2198	4294	6492	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95540614G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.807G>A	2.37:g.95540614G>A						uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.L269L	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			4	900	+			269						Silent	SNP	ENST00000295201.4	37	c.807G>A	CCDS2005.1																																																																																				PASS	0.716	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		13	34	13	34	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96993075	96993075	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:96993075G>C	ENST00000439118.2	+	3	957	c.706G>C	c.(706-708)Gat>Cat	p.D236H	ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.D244H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.D228H|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.D228H	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	236						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D244H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGAAATTTGATATCCTGGT	0.607																																						uc002svx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(706-708)GAT>CAT		inositol 1,4,5-triphosphate receptor interacting							37.0	40.0	39.0					2																	96993075		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993075G>C		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.706G>C	2.37:g.96993075G>C	ENSP00000389308:p.Asp236His					ITPRIPL1_uc010yuk.1_Missense_Mutation_p.D228H|ITPRIPL1_uc002svy.2_Missense_Mutation_p.D244H|ITPRIPL1_uc010yul.1_Missense_Mutation_p.D228H	p.D236H	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1041	+			236			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.706G>C	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.246092|2.246092	0.39697|0.39697	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887|ENST00000420728	T;T;T;T|.	0.21031|.	2.04;2.04;2.03;2.04|.	5.24|5.24	4.34|4.34	0.51931|0.51931	.|.	0.427100|.	0.19342|.	N|.	0.116635|.	T|T	0.41719|0.41719	0.1171|0.1171	N|N	0.24115|0.24115	0.695|0.695	0.35353|0.35353	D|D	0.787502|0.787502	B;B|.	0.27140|.	0.169;0.105|.	B;B|.	0.28553|.	0.091;0.042|.	T|T	0.49908|0.49908	-0.8889|-0.8889	10|5	0.32370|.	T|.	0.25|.	-9.7952|-9.7952	8.8363|8.8363	0.35115|0.35115	0.0817:0.1541:0.7641:0.0|0.0817:0.1541:0.7641:0.0	.|.	244;236|.	Q6GPH6-2;Q6GPH6|.	.;IPIL1_HUMAN|.	H|F	228;236;244;228|267	ENSP00000439566:D228H;ENSP00000389308:D236H;ENSP00000355121:D244H;ENSP00000438212:D228H|.	ENSP00000355121:D244H|.	D|L	+|+	1|3	0|2	ITPRIPL1|ITPRIPL1	96356802|96356802	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.972000|0.972000	0.66771|0.66771	3.827000|3.827000	0.55745|0.55745	1.385000|1.385000	0.46445|0.46445	0.655000|0.655000	0.94253|0.94253	GAT|TTG		PASS	0.607	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		32	241	32	241	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96993224	96993224	+	Silent	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:96993224G>C	ENST00000439118.2	+	3	1106	c.855G>C	c.(853-855)ctG>ctC	p.L285L	ITPRIPL1_ENST00000361124.4_Silent_p.L293L|ITPRIPL1_ENST00000536814.1_Silent_p.L277L|ITPRIPL1_ENST00000542887.1_Silent_p.L277L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	285						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L293L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGTGCCTGGTGCACCACC	0.612																																						uc002svx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(853-855)CTG>CTC		inositol 1,4,5-triphosphate receptor interacting							64.0	59.0	61.0					2																	96993224		2203	4300	6503	SO:0001819	synonymous_variant	150771					integral to membrane		g.chr2:96993224G>C		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.855G>C	2.37:g.96993224G>C						ITPRIPL1_uc010yuk.1_Silent_p.L277L|ITPRIPL1_uc002svy.2_Silent_p.L293L|ITPRIPL1_uc010yul.1_Silent_p.L277L	p.L285L	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1190	+			285			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	c.855G>C	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	G	5.171	0.217101	0.09810	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.24	-1.48	0.08745	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-9.6715	1.5406	0.02554	0.1544:0.21:0.1946:0.4411	.	.	.	.	S	317	.	.	W	+	2	0	ITPRIPL1	96356951	0.871000	0.30034	0.995000	0.50966	0.993000	0.82548	-0.225000	0.09151	-0.126000	0.11682	0.655000	0.94253	TGG		PASS	0.612	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		14	103	14	103	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96993431	96993431	+	Silent	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:96993431G>T	ENST00000439118.2	+	3	1313	c.1062G>T	c.(1060-1062)ctG>ctT	p.L354L	ITPRIPL1_ENST00000361124.4_Silent_p.L362L|ITPRIPL1_ENST00000536814.1_Silent_p.L346L|ITPRIPL1_ENST00000542887.1_Silent_p.L346L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	354						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L362L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTCCGGCTGGACTATCGCT	0.577																																						uc002svx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1060-1062)CTG>CTT		inositol 1,4,5-triphosphate receptor interacting							71.0	71.0	71.0					2																	96993431		2203	4300	6503	SO:0001819	synonymous_variant	150771					integral to membrane		g.chr2:96993431G>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1062G>T	2.37:g.96993431G>T						ITPRIPL1_uc010yuk.1_Silent_p.L346L|ITPRIPL1_uc002svy.2_Silent_p.L362L|ITPRIPL1_uc010yul.1_Silent_p.L346L	p.L354L	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1397	+			354			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	c.1062G>T	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041401	0.02013	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.54	3.75	0.43078	.	.	.	.	.	T	0.69333	0.3099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66131	-0.6000	4	.	.	.	-8.7115	14.2877	0.66256	0.1373:0.0:0.8627:0.0	.	.	.	.	L	386	.	.	W	+	2	0	ITPRIPL1	96357158	1.000000	0.71417	0.998000	0.56505	0.396000	0.30629	0.982000	0.29539	0.465000	0.27167	-0.797000	0.03246	TGG		PASS	0.577	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		44	376	44	376	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128389944	128389944	+	Silent	SNP	C	C	A	rs552512821	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:128389944C>A	ENST00000409816.2	+	37	5327	c.5295C>A	c.(5293-5295)ccC>ccA	p.P1765P	MYO7B_ENST00000389524.4_Silent_p.P1766P|MYO7B_ENST00000409090.1_Silent_p.P618P|MYO7B_ENST00000428314.1_Silent_p.P1765P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1765	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P1765P(1)|p.P2009P(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCTGGCCCCCGACTGCAGCC	0.677																																						uc002top.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(5293-5295)CCC>CCA		myosin VIIB							35.0	43.0	41.0					2																	128389944		1798	3997	5795	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389944C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5295C>A	2.37:g.128389944C>A						MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	p.P1765P	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	38	5348	+	Colorectal(110;0.1)		1765			MyTH4 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.5295C>A	CCDS46405.1																																																																																				PASS	0.677	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		23	22	23	22	---	---	---	---
GPR148	344561	broad.mit.edu	37	2	131487618	131487618	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:131487618A>G	ENST00000309926.4	+	1	976	c.894A>G	c.(892-894)acA>acG	p.T298T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T298T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGACTCACACATGGCTCCTGG	0.567																																						uc002trv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(892-894)ACA>ACG		G protein-coupled receptor 148							156.0	119.0	132.0					2																	131487618		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487618A>G	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.894A>G	2.37:g.131487618A>G							p.T298T	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	896	+	Colorectal(110;0.1)		298			Extracellular (Potential).		Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.894A>G	CCDS2163.1																																																																																				PASS	0.567	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		47	161	47	161	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	135988217	135988217	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:135988217C>A	ENST00000264159.6	-	13	1936	c.1820G>T	c.(1819-1821)aGt>aTt	p.S607I	ZRANB3_ENST00000536680.1_Missense_Mutation_p.S607I|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.S607I	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	607					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.S607I(1)|p.S72I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTCCTGTACACTTTCCACGAG	0.498																																						uc002tum.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(1819-1821)AGT>ATT		zinc finger, RAN-binding domain containing 3							145.0	143.0	144.0					2																	135988217		1975	4136	6111	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988217C>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1820G>T	2.37:g.135988217C>A	ENSP00000264159:p.Ser607Ile					ZRANB3_uc002tuk.2_Missense_Mutation_p.S150I|ZRANB3_uc002tul.2_Missense_Mutation_p.S607I	p.S607I	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1937	-			607					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1820G>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823120	0.32237	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91124	-2.79;-2.79;-2.78	5.05	0.505	0.16953	.	1.667840	0.02844	N	0.128234	T	0.81744	0.4887	N	0.14661	0.345	0.09310	N	1	B;B	0.22003	0.001;0.063	B;B	0.20577	0.002;0.03	T	0.68796	-0.5314	10	0.36615	T	0.2	-21.3627	4.1493	0.10230	0.1613:0.4698:0.0:0.369	.	607;607	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	I	72;72;607;607;607	ENSP00000383979:S607I;ENSP00000264159:S607I;ENSP00000441320:S607I	ENSP00000264159:S607I	S	-	2	0	ZRANB3	135704687	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.266000	0.08631	0.136000	0.18733	0.563000	0.77884	AGT		PASS	0.498	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		75	178	75	178	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140995827	140995827	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:140995827C>A	ENST00000389484.3	-	89	14425	c.13454G>T	c.(13453-13455)gGa>gTa	p.G4485V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4485					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4485V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACATTTATTCCTCCATTGAT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13453-13455)GGA>GTA		low density lipoprotein-related protein 1B							185.0	175.0	178.0					2																	140995827		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995827C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13454G>T	2.37:g.140995827C>A	ENSP00000374135:p.Gly4485Val	TSP Lung(27;0.18)					p.G4485V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	89	14426	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4485			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13454G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.955786|4.955786	0.92726|0.92726	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|T	.|0.39997	.|1.05	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.63295	.|0.2499	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.62567	.|-0.6827	.|10	.|0.66056	.|D	.|0.02	.|.	20.0784|20.0784	0.97758|0.97758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4485	.|Q9NZR2	.|LRP1B_HUMAN	X|V	717;255|4485;4423	.|ENSP00000374135:G4485V	.|ENSP00000374135:G4485V	E|G	-|-	1|2	0|0	LRP1B|LRP1B	140712297|140712297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.294000|7.294000	0.78760|0.78760	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	90	35	90	---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	161052922	161052922	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:161052922G>A	ENST00000283249.2	-	3	388	c.151C>T	c.(151-153)Cat>Tat	p.H51Y	ITGB6_ENST00000428609.2_Missense_Mutation_p.H9Y|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.H51Y|ITGB6_ENST00000409872.1_Missense_Mutation_p.H51Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	51					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.H51Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CCAGATGGATGAGTAAAATTC	0.333																																						uc002ubh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(151-153)CAT>TAT		integrin, beta 6 precursor							85.0	95.0	92.0					2																	161052922		2203	4299	6502	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052922G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.151C>T	2.37:g.161052922G>A	ENSP00000283249:p.His51Tyr					ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.H51Y|ITGB6_uc010zcq.1_Missense_Mutation_p.H9Y|ITGB6_uc010fov.1_Missense_Mutation_p.H51Y	p.H51Y	NM_000888	NP_000879	P18564	ITB6_HUMAN			3	167	-			51			Extracellular (Potential).		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.151C>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184820	0.38609	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.155531	0.56097	D	0.000038	D	0.82346	0.5017	N	0.03608	-0.345	0.30206	N	0.798174	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.76769	-0.2837	10	0.48119	T	0.1	.	14.6011	0.68441	0.0:0.2573:0.7427:0.0	.	9;51	E9PEE8;P18564	.;ITB6_HUMAN	Y	51;9;51;51	ENSP00000283249:H51Y;ENSP00000408024:H9Y;ENSP00000386828:H51Y;ENSP00000386367:H51Y	ENSP00000283249:H51Y	H	-	1	0	ITGB6	160761168	1.000000	0.71417	0.782000	0.31804	0.829000	0.46940	6.012000	0.70767	2.780000	0.95670	0.655000	0.94253	CAT		PASS	0.333	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		258	189	258	189	---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162273453	162273453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:162273453C>T	ENST00000389554.3	+	1	849	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	178					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q178*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCCTACCCACAGCAGTACGG	0.637																																						uc002ubw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(532-534)CAG>TAG		T-box, brain, 1							70.0	74.0	73.0					2																	162273453		2202	4300	6502	SO:0001587	stop_gained	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273453C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.532C>T	2.37:g.162273453C>T	ENSP00000374205:p.Gln178*					TBR1_uc010foy.2_5'Flank	p.Q178*	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	834	+			178					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Nonsense_Mutation	SNP	ENST00000389554.3	37	c.532C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	38	7.087404	0.98055	.	.	ENSG00000136535	ENST00000389554	.	.	.	5.39	5.39	0.77823	.	0.288381	0.34046	N	0.004302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	17.8745	0.88821	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000374205:Q178X	Q	+	1	0	TBR1	161981699	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.850000	0.69473	2.803000	0.96430	0.655000	0.94253	CAG		PASS	0.637	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		38	79	38	79	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162799319	162799319	+	Missense_Mutation	SNP	C	C	G	rs374697376		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:162799319C>G	ENST00000446997.1	+	16	2108	c.2015C>G	c.(2014-2016)cCg>cGg	p.P672R	SLC4A10_ENST00000375514.5_Missense_Mutation_p.P653R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P672R|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P642R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P642R	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	672					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.P672R(1)|p.P642R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGTGTGGAACCGCATAATCCC	0.393																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(2014-2016)CCG>CGG		solute carrier family 4, sodium bicarbonate							66.0	64.0	64.0					2																	162799319		1892	4102	5994	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162799319C>G		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2015C>G	2.37:g.162799319C>G	ENSP00000393066:p.Pro672Arg					SLC4A10_uc002uby.3_Missense_Mutation_p.P642R|SLC4A10_uc010zcs.1_Missense_Mutation_p.P653R	p.P672R	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			16	2199	+			672			Extracellular (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2015C>G	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882905	0.91740	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	6.04	6.04	0.98038	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90923	0.7147	M	0.88570	2.965	0.80722	D	1	P;P;D	0.60575	0.927;0.927;0.988	P;P;P	0.60345	0.873;0.873;0.858	D	0.91406	0.5147	10	0.72032	D	0.01	.	20.5891	0.99427	0.0:1.0:0.0:0.0	.	653;642;672	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	R	653;642;642;641;672;672;671	ENSP00000364664:P653R;ENSP00000395797:P642R;ENSP00000272716:P642R;ENSP00000393066:P672R;ENSP00000404486:P672R	ENSP00000272716:P642R	P	+	2	0	SLC4A10	162507565	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.767000	0.85331	2.876000	0.98609	0.650000	0.86243	CCG		PASS	0.393	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		14	13	14	13	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165365270	165365270	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:165365270G>C	ENST00000263915.3	-	7	1447	c.909C>G	c.(907-909)aaC>aaG	p.N303K	GRB14_ENST00000543549.1_Missense_Mutation_p.N216K	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.N303K(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AGAATCCATAGTTAGTCGGTG	0.373																																						uc002ucl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(907-909)AAC>AAG		growth factor receptor-bound protein 14							111.0	114.0	113.0					2																	165365270		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365270G>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.909C>G	2.37:g.165365270G>C	ENSP00000263915:p.Asn303Lys					GRB14_uc010zcv.1_Missense_Mutation_p.N216K|GRB14_uc002ucm.2_RNA	p.N303K	NM_004490	NP_004481	Q14449	GRB14_HUMAN			7	1450	-			303			PH.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.909C>G	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183166	0.38511	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.74106	-0.81;-0.81;-0.81	6.02	5.15	0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.509423	0.24838	N	0.035185	T	0.67211	0.2869	L	0.39898	1.24	0.34176	D	0.670371	B;B	0.23990	0.095;0.041	B;B	0.29524	0.102;0.103	T	0.73760	-0.3881	10	0.72032	D	0.01	-1.239	10.4685	0.44622	0.1472:0.0:0.8528:0.0	.	216;303	B7Z7F9;Q14449	.;GRB14_HUMAN	K	303;216;258	ENSP00000263915:N303K;ENSP00000443699:N216K;ENSP00000416786:N258K	ENSP00000263915:N303K	N	-	3	2	GRB14	165073516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.849000	0.48286	1.552000	0.49463	0.650000	0.86243	AAC		PASS	0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			76	168	76	168	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	167760191	167760191	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:167760191G>A	ENST00000409728.1	+	2	288	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	XIRP2_ENST00000409043.1_Missense_Mutation_p.G67R|XIRP2_ENST00000420519.1_Missense_Mutation_p.G67R|XIRP2_ENST00000409756.2_Missense_Mutation_p.G67R|XIRP2_ENST00000295237.9_Missense_Mutation_p.G67R|XIRP2_ENST00000409195.1_Missense_Mutation_p.G67R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G67R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTACAGTACAGGGGAAGAGAT	0.493																																						uc002udx.2																			2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(199-201)GGG>AGG		xin actin-binding repeat containing 2 isoform 1							77.0	78.0	78.0					2																	167760191		1949	4131	6080	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760191G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.199G>A	2.37:g.167760191G>A	ENSP00000386619:p.Gly67Arg					XIRP2_uc010fpn.2_Missense_Mutation_p.G67R|XIRP2_uc010fpo.2_Missense_Mutation_p.G67R|XIRP2_uc010fpp.2_Missense_Mutation_p.G67R	p.G67R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	217	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.199G>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607497	0.28623	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77750	-1.11;-1.12;4.23;-1.11;-1.12;4.23	4.79	-1.8	0.07907	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.16289	0.015;0.015	T	0.37820	-0.9689	8	0.06891	T	0.86	-4.9467	5.2753	0.15645	0.471:0.1457:0.3834:0.0	.	67;67	A4UGR9-4;A4UGR9-6	.;.	R	67	ENSP00000386454:G67R;ENSP00000386619:G67R;ENSP00000386840:G67R;ENSP00000386724:G67R;ENSP00000415541:G67R;ENSP00000295237:G67R	ENSP00000295237:G67R	G	+	1	0	XIRP2	167468437	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.077000	0.03416	-0.442000	0.07190	0.655000	0.94253	GGG		PASS	0.493	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		57	50	57	50	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177033999	177033999	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:177033999C>A	ENST00000468418.3	+	3	2247	c.157C>A	c.(157-159)Cct>Act	p.P53T	HOXD3_ENST00000249440.3_Missense_Mutation_p.P53T|HOXD3_ENST00000410016.1_Missense_Mutation_p.P53T			P31249	HXD3_HUMAN	homeobox D3	53					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P53T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CTACCCACCCCCTGCTGCTGC	0.587																																						uc002ukt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CCT>ACT		homeobox D3							83.0	85.0	84.0					2																	177033999		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177033999C>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.157C>A	2.37:g.177033999C>A	ENSP00000424734:p.Pro53Thr						p.P53T	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	2	333	+			53					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.157C>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273256	0.23221	.	.	ENSG00000128652	ENST00000432796;ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.89415	-2.51;-2.51;-2.51	5.48	2.61	0.31194	.	0.235817	0.45361	D	0.000364	T	0.77974	0.4211	L	0.36672	1.1	0.28169	N	0.928666	B	0.02656	0.0	B	0.01281	0.0	T	0.60321	-0.7286	10	0.22109	T	0.4	.	1.1301	0.01743	0.2582:0.3977:0.1256:0.2185	.	53	P31249	HXD3_HUMAN	T	53	ENSP00000424734:P53T;ENSP00000386498:P53T;ENSP00000249440:P53T	ENSP00000249440:P53T	P	+	1	0	HOXD3	176742245	0.000000	0.05858	0.999000	0.59377	0.993000	0.82548	-0.042000	0.12063	0.323000	0.23307	0.655000	0.94253	CCT		PASS	0.587	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			33	46	33	46	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098968	178098968	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:178098968T>A	ENST00000397062.3	-	2	631	c.77A>T	c.(76-78)cAa>cTa	p.Q26L	NFE2L2_ENST00000423513.1_Missense_Mutation_p.Q10L|NFE2L2_ENST00000464747.1_Missense_Mutation_p.Q10L|NFE2L2_ENST00000446151.2_Missense_Mutation_p.Q10L|NFE2L2_ENST00000397063.4_Missense_Mutation_p.Q10L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	26					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.Q26P(1)|p.Q26L(1)		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)			ATCTATATCTTGCCTCCAAAG	0.348			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		2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(76-78)CAA>CTA		nuclear factor erythroid 2-like 2 isoform 1							59.0	53.0	55.0					2																	178098968		1842	4098	5940	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.chr2:178098968T>A		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.77A>T	2.37:g.178098968T>A	ENSP00000380252:p.Gln26Leu	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.Q10L|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q10L|NFE2L2_uc002uli.3_Missense_Mutation_p.Q10L|NFE2L2_uc010fra.2_Missense_Mutation_p.Q10L|NFE2L2_uc010frb.2_Missense_Mutation_p.Q10L	p.Q26L	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	632	-			26					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.77A>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182713	0.78677	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;1.0;0.999	D;D;D;D	0.83275	0.994;0.977;0.996;0.994	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	10;10;10;26	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	L	10;26;10;10;10;10;10	ENSP00000380253:Q10L;ENSP00000380252:Q26L;ENSP00000411575:Q10L;ENSP00000391590:Q10L;ENSP00000400073:Q10L;ENSP00000412191:Q10L;ENSP00000410015:Q10L	ENSP00000380252:Q26L	Q	-	2	0	NFE2L2	177807214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.698000	0.84413	2.210000	0.71456	0.460000	0.39030	CAA		PASS	0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		29	61	29	61	---	---	---	---
FKBP7	51661	broad.mit.edu	37	2	179334381	179334381	+	Missense_Mutation	SNP	C	C	G	rs373264897		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:179334381C>G	ENST00000424785.2	-	3	563	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	FKBP7_ENST00000464248.1_Intron|FKBP7_ENST00000434643.2_Missense_Mutation_p.E168Q	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	206	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E169Q(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGAATTACCTCGGCTTTAGAG	0.353																																					Melanoma(26;682 927 5286 17599 46613)	uc002umk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GAG>CAG		FK506 binding protein 7 isoform a precursor							186.0	187.0	186.0					2																	179334381		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179334381C>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.505G>C	2.37:g.179334381C>G	ENSP00000413152:p.Glu169Gln					FKBP7_uc002umm.2_Missense_Mutation_p.E168Q|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Intron	p.E169Q	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	634	-			206			1 (Potential).|EF-hand 1.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.505G>C	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751488	0.89753	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.93019	-3.15;-3.15	5.34	5.34	0.76211	.	0.049220	0.85682	D	0.000000	D	0.96990	0.9017	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.974	D;P	0.91635	0.999;0.784	D	0.97498	1.0058	9	0.87932	D	0	-1.7631	19.0486	0.93032	0.0:1.0:0.0:0.0	.	168;169	Q9Y680-3;Q9Y680-2	.;.	Q	169;204;168	ENSP00000413152:E169Q;ENSP00000415486:E168Q	ENSP00000335194:E204Q	E	-	1	0	FKBP7	179042627	1.000000	0.71417	0.947000	0.38551	0.879000	0.50718	7.219000	0.78000	2.484000	0.83849	0.650000	0.86243	GAG		PASS	0.353	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		158	135	158	135	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179615473	179615473	+	Intron	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:179615473G>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T3885K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			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)			ATTTACAAGTGTACCAAAAGA	0.353																																						uc002unb.2																			0				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.(11653-11655)ACA>AAA		titin isoform novex-3							75.0	73.0	74.0					2																	179615473		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615473G>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.10360+2377C>A	2.37:g.179615473G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.T3885K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11878	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.11654C>A		.	.	.	.	.	.	.	.	.	.	G	17.73	3.461935	0.63513	.	.	ENSG00000155657	ENST00000360870	T	0.60171	0.21	5.55	3.76	0.43208	.	.	.	.	.	T	0.37732	0.1014	N	0.19112	0.55	0.21020	N	0.999806	B	0.16396	0.017	B	0.15484	0.013	T	0.16394	-1.0404	9	0.05959	T	0.93	.	11.5102	0.50488	0.1485:0.0:0.8515:0.0	.	3885	Q8WZ42-6	.	K	3885	ENSP00000354117:T3885K	ENSP00000354117:T3885K	T	-	2	0	TTN	179323718	0.004000	0.15560	0.001000	0.08648	0.293000	0.27360	1.312000	0.33574	0.825000	0.34637	-0.136000	0.14681	ACA		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	94	42	94	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197990703	197990703	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:197990703C>A	ENST00000328737.2	-	5	321	c.245G>T	c.(244-246)tGg>tTg	p.W82L	ANKRD44_ENST00000282272.8_Missense_Mutation_p.W99L|ANKRD44_ENST00000337207.5_Missense_Mutation_p.W82L|ANKRD44_ENST00000409919.1_Missense_Mutation_p.W107L|ANKRD44_ENST00000539527.1_Missense_Mutation_p.W35L|ANKRD44_ENST00000409153.1_Missense_Mutation_p.W107L|ANKRD44_ENST00000450567.1_Missense_Mutation_p.W82L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	107								p.W107L(2)|p.W82L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGGGGTCTGCCAGTTCTTGTC	0.507																																						uc002uuc.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(1)	5						c.(319-321)TGG>TTG		ankyrin repeat domain 44							167.0	156.0	160.0					2																	197990703		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990703C>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.245G>T	2.37:g.197990703C>A	ENSP00000331516:p.Trp82Leu					ANKRD44_uc002uua.1_Missense_Mutation_p.W82L|ANKRD44_uc002uub.2_Missense_Mutation_p.W107L|ANKRD44_uc010zgw.1_Missense_Mutation_p.W35L	p.W107L	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	487	-			107			ANK 4.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.320G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.259099	0.95368	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.63580	1.63;2.47;2.47;2.45;2.45;-0.05;2.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	N	0.04994	-0.135	0.80722	D	1	D;D	0.65815	0.995;0.992	D;D	0.72982	0.972;0.979	T	0.65821	-0.6075	10	0.31617	T	0.26	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	35;107	F5H682;Q8N8A2-3	.;.	L	99;82;82;82;107;35;107	ENSP00000282272:W99L;ENSP00000331516:W82L;ENSP00000402420:W82L;ENSP00000338794:W82L;ENSP00000387141:W107L;ENSP00000437825:W35L;ENSP00000387233:W107L	ENSP00000282272:W99L	W	-	2	0	ANKRD44	197698948	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.840000	0.97914	0.655000	0.94253	TGG		PASS	0.507	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		74	142	74	142	---	---	---	---
CFLAR	8837	broad.mit.edu	37	2	202025532	202025532	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:202025532G>T	ENST00000309955.3	+	9	1686	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	CFLAR_ENST00000423241.2_Missense_Mutation_p.G391W|CFLAR_ENST00000457277.1_Missense_Mutation_p.G391W|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000443227.1_Missense_Mutation_p.G295W|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Missense_Mutation_p.G391W|CFLAR_ENST00000479953.2_Missense_Mutation_p.G295W|CFLAR_ENST00000341582.6_Missense_Mutation_p.G356W	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	391	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.G391W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TCAGAAGCGAGGGCTGTGCAC	0.562																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)GGG>TGG		CASP8 and FADD-like apoptosis regulator isoform							51.0	51.0	51.0					2																	202025532		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025532G>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1171G>T	2.37:g.202025532G>T	ENSP00000312455:p.Gly391Trp					CFLAR_uc010zhk.1_Missense_Mutation_p.G295W|CFLAR_uc002uxc.3_Missense_Mutation_p.G356W|CFLAR_uc010zhl.1_Missense_Mutation_p.G295W|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.G391W|CFLAR_uc002uxf.2_Missense_Mutation_p.G391W|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.G295W|CFLAR_uc010fsz.2_Missense_Mutation_p.G146W|CFLAR_uc002uxg.2_Missense_Mutation_p.G146W	p.G391W	NM_003879	NP_003870	O15519	CFLAR_HUMAN			9	1623	+			391			Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.1171G>T	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781653	0.49891	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.34	0.219	0.15274	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	1.031920	0.07650	N	0.931764	T	0.41442	0.1159	M	0.64997	1.995	0.09310	N	1	D;D;D;D	0.71674	0.997;0.996;0.992;0.998	D;D;P;D	0.67725	0.924;0.928;0.895;0.953	T	0.23940	-1.0174	10	0.38643	T	0.18	-0.2025	5.4832	0.16735	0.3264:0.1355:0.5381:0.0	.	295;391;356;391	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	W	391;295;391;277;356;391;391	ENSP00000312455:G391W;ENSP00000413270:G295W;ENSP00000339326:G391W;ENSP00000345807:G356W;ENSP00000399420:G391W;ENSP00000411535:G391W	ENSP00000312455:G391W	G	+	1	0	CFLAR	201733777	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.184000	0.16939	-0.265000	0.09352	0.555000	0.69702	GGG		PASS	0.562	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		46	47	46	47	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220379768	220379768	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:220379768C>T	ENST00000347842.3	+	1	717	c.703C>T	c.(703-705)Cca>Tca	p.P235S	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.P235S	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	235					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.P235S(1)									TGCCCCAGCCCCAGTGGCGGG	0.667																																						uc002vma.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(703-705)CCA>TCA		amiloride-sensitive cation channel 4 isoform 2							19.0	23.0	22.0					2																	220379768		2196	4287	6483	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379768C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.703C>T	2.37:g.220379768C>T	ENSP00000326627:p.Pro235Ser					ACCN4_uc010fwi.1_Missense_Mutation_p.P235S|ACCN4_uc010fwj.1_Missense_Mutation_p.P235S|ACCN4_uc002vly.1_Missense_Mutation_p.P235S|ACCN4_uc002vlz.2_Missense_Mutation_p.P235S|ACCN4_uc002vmb.2_5'Flank	p.P235S	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	1	717	+		Renal(207;0.0183)	235			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.703C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793422	0.50102	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.61040	0.15;0.14	4.48	3.59	0.41128	.	0.631948	0.14709	N	0.303066	T	0.31827	0.0809	N	0.00621	-1.32	0.47276	D	0.999371	P;B;P	0.47841	0.901;0.057;0.571	P;B;B	0.49332	0.607;0.054;0.28	T	0.13229	-1.0517	10	0.15952	T	0.53	-9.532	11.5542	0.50737	0.3246:0.6753:0.0:0.0	.	235;235;235	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	S	235	ENSP00000326627:P235S;ENSP00000350786:P235S	ENSP00000326627:P235S	P	+	1	0	ACCN4	220088012	0.998000	0.40836	0.994000	0.49952	0.964000	0.63967	5.600000	0.67599	1.081000	0.41110	-0.182000	0.12963	CCA		PASS	0.667	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		8	25	8	25	---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222301171	222301171	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:222301171A>G	ENST00000281821.2	-	13	2335	c.2294T>C	c.(2293-2295)tTt>tCt	p.F765S	EPHA4_ENST00000409938.1_Missense_Mutation_p.F765S|EPHA4_ENST00000409854.1_Missense_Mutation_p.F765S|EPHA4_ENST00000392071.4_Missense_Mutation_p.F714S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	765	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.F765S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGACATGCCAAAATCAGACAC	0.488																																						uc002vmq.2																			2	Substitution - Missense(2)		lung(2)	lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2293-2295)TTT>TCT		ephrin receptor EphA4 precursor							112.0	93.0	99.0					2																	222301171		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301171A>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2294T>C	2.37:g.222301171A>G	ENSP00000281821:p.Phe765Ser					EPHA4_uc002vmr.2_Missense_Mutation_p.F765S|EPHA4_uc010zlm.1_Missense_Mutation_p.F706S|EPHA4_uc010zln.1_Missense_Mutation_p.F765S	p.F765S	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	13	2336	-		Renal(207;0.0183)	765			Protein kinase.|Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2294T>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747381	0.89663	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	H	0.98612	4.28	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.96017	0.9006	10	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	765	P54764	EPHA4_HUMAN	S	765;765;765;714	ENSP00000281821:F765S;ENSP00000386276:F765S;ENSP00000386829:F765S;ENSP00000375923:F714S	ENSP00000281821:F765S	F	-	2	0	EPHA4	222009415	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TTT		PASS	0.488	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			39	116	39	116	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228883485	228883485	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr2:228883485G>C	ENST00000392056.3	-	7	2131	c.2085C>G	c.(2083-2085)aaC>aaG	p.N695K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N695K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	695						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N695K(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGAATGCCTGTTGTCATTGG	0.393																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2083-2085)AAC>AAG		sphingosine kinase type 1-interacting protein							248.0	224.0	232.0					2																	228883485		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883485G>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2085C>G	2.37:g.228883485G>C	ENSP00000375909:p.Asn695Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.N695K|SPHKAP_uc010zlx.1_Missense_Mutation_p.N695K	p.N695K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2132	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	695					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2085C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.317	-0.356494	0.05138	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42131	0.98;0.98	5.62	-3.12	0.05282	.	0.659359	0.15342	N	0.267463	T	0.17619	0.0423	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.07790	-1.0754	10	0.45353	T	0.12	.	1.2125	0.01907	0.2754:0.0902:0.2671:0.3673	.	695;695	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	695	ENSP00000375909:N695K;ENSP00000339886:N695K	ENSP00000339886:N695K	N	-	3	2	SPHKAP	228591729	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.138000	0.10374	-0.427000	0.07350	-0.122000	0.15005	AAC		PASS	0.393	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		359	240	359	240	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517717	9517717	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:9517717A>T	ENST00000406341.1	+	22	4461	c.4271A>T	c.(4270-4272)cAg>cTg	p.Q1424L	SETD5_ENST00000302463.6_Missense_Mutation_p.Q1326L|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1443L|SETD5_ENST00000402466.1_Missense_Mutation_p.Q1326L|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1424L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1424								p.Q1326L(1)|p.Q1424L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGTGTGCACCAGTACCGACTC	0.577																																						uc003brt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(4270-4272)CAG>CTG		SET domain containing 5							25.0	26.0	26.0					3																	9517717		1955	4148	6103	SO:0001583	missense	55209							g.chr3:9517717A>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4271A>T	3.37:g.9517717A>T	ENSP00000383939:p.Gln1424Leu					SETD5_uc003bru.2_Missense_Mutation_p.Q1326L|SETD5_uc003brv.2_Missense_Mutation_p.Q1313L|SETD5_uc010hck.2_Missense_Mutation_p.Q906L|SETD5_uc003brx.2_Missense_Mutation_p.Q1093L	p.Q1424L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	23	4706	+	Medulloblastoma(99;0.227)		1424					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.4271A>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072173	0.36566	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92805	-2.78;-3.11;-2.78;-2.77;-3.11	5.17	2.64	0.31445	.	0.182523	0.37577	N	0.002031	D	0.84529	0.5492	N	0.19112	0.55	0.35922	D	0.831894	P;P;B	0.41848	0.763;0.634;0.18	B;B;B	0.42282	0.382;0.295;0.025	D	0.84366	0.0541	10	0.42905	T	0.14	-4.5192	7.7388	0.28829	0.6878:0.2391:0.0731:0.0	.	1093;1326;1424	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	L	1424;1326;1424;1443;1326	ENSP00000385852:Q1424L;ENSP00000384429:Q1326L;ENSP00000383939:Q1424L;ENSP00000384114:Q1443L;ENSP00000302028:Q1326L	ENSP00000302028:Q1326L	Q	+	2	0	SETD5	9492717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.413000	0.34725	0.923000	0.37045	0.383000	0.25322	CAG		PASS	0.577	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		29	3	29	3	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25648771	25648771	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:25648771C>G	ENST00000264331.4	-	31	4188	c.4189G>C	c.(4189-4191)Gtt>Ctt	p.V1397L	TOP2B_ENST00000540199.1_Missense_Mutation_p.V249L|TOP2B_ENST00000542520.1_Missense_Mutation_p.V249L|TOP2B_ENST00000435706.2_Missense_Mutation_p.V1392L	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1397					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.V1392L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GATGCTTTAACTTTCAATTCC	0.353																																						uc003cdj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(4174-4176)GTT>CTT		DNA topoisomerase II, beta isozyme							119.0	107.0	111.0					3																	25648771		1900	4122	6022	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25648771C>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4189G>C	3.37:g.25648771C>G	ENSP00000264331:p.Val1397Leu					TOP2B_uc011awm.1_Missense_Mutation_p.V249L|TOP2B_uc010hff.1_Missense_Mutation_p.V258L	p.V1392L	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			31	4174	-			1397					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4174G>C		.	.	.	.	.	.	.	.	.	.	C	8.057	0.767200	0.15983	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.46819	0.86;0.97;0.97;0.86	5.62	5.62	0.85841	.	0.282031	0.34802	N	0.003679	T	0.27063	0.0663	N	0.08118	0	0.42202	D	0.991776	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.10428	-1.0630	10	0.27785	T	0.31	-20.6378	11.3892	0.49804	0.1405:0.724:0.1355:0.0	.	1397;1392	Q02880;Q02880-2	TOP2B_HUMAN;.	L	249;1392;1397;249	ENSP00000446023:V249L;ENSP00000396704:V1392L;ENSP00000264331:V1397L;ENSP00000437352:V249L	ENSP00000264331:V1397L	V	-	1	0	TOP2B	25623775	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.304000	0.43655	2.828000	0.97474	0.650000	0.86243	GTT		PASS	0.353	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				15	2	15	2	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38044024	38044024	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:38044024C>G	ENST00000283713.6	+	14	1883	c.1617C>G	c.(1615-1617)ttC>ttG	p.F539L	VILL_ENST00000383759.2_Missense_Mutation_p.F539L|VILL_ENST00000465644.1_Missense_Mutation_p.F257L			O15195	VILL_HUMAN	villin-like	539					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.F539L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTGACATCTTCTTGCTGGTCA	0.577																																						uc003chj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1615-1617)TTC>TTG		villin-like protein							163.0	124.0	137.0					3																	38044024		2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38044024C>G		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1617C>G	3.37:g.38044024C>G	ENSP00000283713:p.Phe539Leu					VILL_uc003chl.2_Missense_Mutation_p.F539L	p.F539L	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	14	1903	+			539			Gelsolin-like 5.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.1617C>G	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172240	0.78452	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.58797	0.31;0.31;0.31	5.18	4.31	0.51392	Gelsolin domain (1);	0.045217	0.85682	D	0.000000	D	0.82508	0.5052	H	0.97265	3.97	0.37653	D	0.92246	D	0.89917	1.0	D	0.87578	0.998	D	0.87789	0.2617	10	0.87932	D	0	-30.5241	9.9154	0.41430	0.0:0.8408:0.0:0.1592	.	539	O15195	VILL_HUMAN	L	539;539;525;257	ENSP00000283713:F539L;ENSP00000373266:F539L;ENSP00000422096:F257L	ENSP00000283713:F539L	F	+	3	2	VILL	38019028	0.973000	0.33851	0.999000	0.59377	0.875000	0.50365	1.671000	0.37513	1.318000	0.45170	0.561000	0.74099	TTC		PASS	0.577	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		54	73	54	73	---	---	---	---
POMGNT2	84892	broad.mit.edu	37	3	43121436	43121436	+	Silent	SNP	G	G	T	rs35207939	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:43121436G>T	ENST00000344697.2	-	2	1833	c.1488C>A	c.(1486-1488)ggC>ggA	p.G496G	POMGNT2_ENST00000441964.1_Silent_p.G496G	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	496	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.G496G(1)									CCTCGGAGGCGCCATGCACTG	0.632																																						uc003cmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1486-1488)GGC>GGA		glycosyltransferase precursor							77.0	70.0	72.0					3																	43121436		2203	4300	6503	SO:0001819	synonymous_variant	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43121436G>T	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1488C>A	3.37:g.43121436G>T						C3orf39_uc003cmr.1_Silent_p.G496G	p.G496G	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	1629	-			496					B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	c.1488C>A	CCDS2709.1																																																																																				PASS	0.632	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		26	42	26	42	---	---	---	---
CCR1	1230	broad.mit.edu	37	3	46244914	46244914	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:46244914G>A	ENST00000296140.3	-	2	1016	c.891C>T	c.(889-891)aaC>aaT	p.N297N	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	297					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.N297N(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGATCACTGGGTTGACACAGC	0.562																																						uc003cph.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|pancreas(1)	3						c.(889-891)AAC>AAT		chemokine (C-C motif) receptor 1							100.0	84.0	90.0					3																	46244914		2203	4300	6503	SO:0001819	synonymous_variant	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244914G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.891C>T	3.37:g.46244914G>A						CCR3_uc003cpg.1_Intron	p.N297N	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	962	-			297			Helical; Name=7; (Potential).		Q86VA9	Silent	SNP	ENST00000296140.3	37	c.891C>T	CCDS2737.1																																																																																				PASS	0.562	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		62	16	62	16	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723334	49723334	+	IGR	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:49723334G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.V403V|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.V389V(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGCACTGGACACCCTTGC	0.711																																						uc003cxg.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1207-1209)GTC>GTT		macrophage stimulating 1 (hepatocyte growth							41.0	39.0	40.0					3																	49723334		2194	4279	6473	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723334G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723334G>A						MST1_uc011bcs.1_Missense_Mutation_p.S442F	p.V403V	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1281	-			389			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1209C>T	CCDS2801.1																																																																																				PASS	0.711	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			19	152	19	152	---	---	---	---
HYAL1	3373	broad.mit.edu	37	3	50339528	50339528	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:50339528A>T	ENST00000266031.4	-	1	1475	c.860T>A	c.(859-861)gTc>gAc	p.V287D	HYAL1_ENST00000395144.2_Missense_Mutation_p.V287D|HYAL1_ENST00000395143.2_Missense_Mutation_p.V287D|HYAL1_ENST00000457214.2_Missense_Mutation_p.V105D|HYAL1_ENST00000320295.8_Missense_Mutation_p.V287D|HYAL3_ENST00000513170.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.V28D|NAT6_ENST00000354862.4_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	287					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)	p.V287D(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAGATCTGGACATAGGGCAG	0.557																																						uc003czp.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(859-861)GTC>GAC		hyaluronoglucosaminidase 1 isoform 1	Hyaluronidase(DB00070)						90.0	87.0	88.0					3																	50339528		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50339528A>T	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.860T>A	3.37:g.50339528A>T	ENSP00000266031:p.Val287Asp					HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.V105D|HYAL1_uc003czo.2_Missense_Mutation_p.V28D|HYAL1_uc003czq.2_Missense_Mutation_p.V287D|HYAL1_uc003czr.2_Missense_Mutation_p.V287D|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.V287D|HYAL1_uc003czt.2_Missense_Mutation_p.V287D	p.V287D	NM_033159	NP_149349	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	992	-			287					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.860T>A	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048979	0.36181	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.46	-0.824	0.10812	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.689924	0.15120	N	0.279480	T	0.32734	0.0839	L	0.58810	1.83	0.27006	N	0.964804	D;B;D	0.60575	0.982;0.321;0.988	P;B;P	0.53722	0.657;0.192;0.733	T	0.20672	-1.0268	10	0.45353	T	0.12	-0.0036	9.3894	0.38363	0.4593:0.0:0.5407:0.0	.	287;287;287	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	D	287;287;287;287;105;28	ENSP00000378576:V287D;ENSP00000266031:V287D;ENSP00000346068:V287D;ENSP00000378575:V287D;ENSP00000393358:V105D;ENSP00000390149:V28D	ENSP00000266031:V287D	V	-	2	0	HYAL1	50314532	0.005000	0.15991	0.013000	0.15412	0.659000	0.38960	1.231000	0.32624	-0.458000	0.07023	-0.177000	0.13119	GTC		PASS	0.557	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			65	11	65	11	---	---	---	---
PLA1A	51365	broad.mit.edu	37	3	119325702	119325702	+	Missense_Mutation	SNP	A	A	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:119325702A>C	ENST00000273371.4	+	2	227	c.155A>C	c.(154-156)cAg>cCg	p.Q52P	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.Q36P|PLA1A_ENST00000495992.1_Missense_Mutation_p.Q52P	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	52					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.Q52P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCAAAGTCCAGTTTCTCCTC	0.512																																						uc003ecu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(154-156)CAG>CCG		phospholipase A1 member A precursor							142.0	144.0	143.0					3																	119325702		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325702A>C	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.155A>C	3.37:g.119325702A>C	ENSP00000273371:p.Gln52Pro					PLA1A_uc003ecv.2_Missense_Mutation_p.Q52P|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	p.Q52P	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			2	194	+			52					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.155A>C	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890668	0.52014	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.90844	-2.72;-2.74;-2.72	5.04	1.26	0.21427	Lipase, N-terminal (1);	0.448629	0.26563	N	0.023678	D	0.93232	0.7844	M	0.78344	2.41	0.38969	D	0.958718	D;D	0.67145	0.995;0.996	D;D	0.67103	0.914;0.949	D	0.91478	0.5202	10	0.72032	D	0.01	-5.7553	7.3863	0.26884	0.7221:0.0:0.2779:0.0	.	52;52	Q53H76-3;Q53H76	.;PLA1A_HUMAN	P	52;52;36	ENSP00000273371:Q52P;ENSP00000417326:Q52P;ENSP00000418793:Q36P	ENSP00000273371:Q52P	Q	+	2	0	PLA1A	120808392	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	1.057000	0.30492	0.129000	0.18514	-0.408000	0.06270	CAG		PASS	0.512	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			138	696	138	696	---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122354719	122354719	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:122354719C>A	ENST00000464300.2	+	12	1875	c.1809C>A	c.(1807-1809)acC>acA	p.T603T	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Silent_p.T408T|PARP15_ENST00000493645.1_Silent_p.T300T|PARP15_ENST00000310366.4_Silent_p.T369T	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	603	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T369T(1)|p.T603T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CCAAGGACACCTACTCCAAGC	0.453																																						uc003efm.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1807-1809)ACC>ACA		poly (ADP-ribose) polymerase family, member 15							145.0	128.0	133.0					3																	122354719		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122354719C>A	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1809C>A	3.37:g.122354719C>A						PARP15_uc003efn.2_Silent_p.T408T|PARP15_uc003efo.1_Silent_p.T350T|PARP15_uc003efp.1_Silent_p.T369T|PARP15_uc011bjt.1_Silent_p.T300T	p.T603T	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	1875	+			581			PARP catalytic.		J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.1809C>A	CCDS46893.1																																																																																				PASS	0.453	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		133	253	133	253	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124720847	124720847	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:124720847G>A	ENST00000311127.4	-	11	3433	c.3366C>T	c.(3364-3366)aaC>aaT	p.N1122N		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1122					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.N1122N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCACCACCGCGTTGGACTCCC	0.483																																						uc003ehs.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(3364-3366)AAC>AAT		HEG homolog 1 precursor							65.0	65.0	65.0					3																	124720847		2004	4175	6179	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124720847G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3366C>T	3.37:g.124720847G>A						HEG1_uc003ehr.3_Translation_Start_Site|HEG1_uc011bke.1_Silent_p.N1222N	p.N1122N	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			11	3434	-			1122			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.3366C>T	CCDS46898.1																																																																																				PASS	0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		30	110	30	110	---	---	---	---
GP9	2815	broad.mit.edu	37	3	128780998	128780998	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:128780998T>A	ENST00000307395.4	+	3	638	c.416T>A	c.(415-417)cTg>cAg	p.L139Q		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	139					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L139Q(1)		NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GGCTGGCAGCTGCAGGCGTCC	0.741																																						uc003elm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)CTG>CAG		glycoprotein IX (platelet) precursor	Quinine(DB00468)						4.0	5.0	4.0					3																	128780998		1838	3681	5519	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780998T>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.416T>A	3.37:g.128780998T>A	ENSP00000303942:p.Leu139Gln						p.L139Q	NM_000174	NP_000165	P14770	GPIX_HUMAN			3	603	+			139			Extracellular (Potential).		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.416T>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633884	0.47049	.	.	ENSG00000169704	ENST00000307395	D	0.81659	-1.52	4.07	1.59	0.23543	.	0.538297	0.17303	U	0.179189	D	0.84261	0.5433	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.71981	-0.4428	10	0.54805	T	0.06	-4.7592	4.3579	0.11187	0.1751:0.1016:0.0:0.7233	.	139	P14770	GPIX_HUMAN	Q	139	ENSP00000303942:L139Q	ENSP00000303942:L139Q	L	+	2	0	GP9	130263688	0.002000	0.14202	0.018000	0.16275	0.019000	0.09904	0.206000	0.17375	0.132000	0.18615	0.379000	0.24179	CTG		PASS	0.741	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			3	8	3	8	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129225321	129225321	+	Missense_Mutation	SNP	C	C	T	rs377690924		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:129225321C>T	ENST00000348417.2	+	22	2797	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V	IFT122_ENST00000347300.2_Missense_Mutation_p.A848V|IFT122_ENST00000504021.1_Missense_Mutation_p.A783V|IFT122_ENST00000296266.3_Missense_Mutation_p.A958V|IFT122_ENST00000507564.1_Missense_Mutation_p.A899V|IFT122_ENST00000349441.2_Missense_Mutation_p.A796V|IFT122_ENST00000440957.2_Missense_Mutation_p.A698V|IFT122_ENST00000431818.2_Missense_Mutation_p.A757V	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	907				A -> V (in Ref. 1; AAG15428). {ECO:0000305}.	camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.A958V(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AATGCCGTGGCGGAGAGCAGG	0.522																																						uc003emm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2719-2721)GCG>GTG		WD repeat domain 10 isoform 2		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	221.0	175.0	190.0		2543,2873,2720,2387	3.3	0.9	3		190	0,8600		0,0,4300	no	missense,missense,missense,missense	IFT122	NM_018262.2,NM_052985.2,NM_052989.1,NM_052990.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	848/1183,958/1293,907/1242,796/1132	129225321	1,13005	2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129225321C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2720C>T	3.37:g.129225321C>T	ENSP00000324005:p.Ala907Val					IFT122_uc003eml.2_Missense_Mutation_p.A958V|IFT122_uc003emn.2_Missense_Mutation_p.A848V|IFT122_uc003emo.2_Missense_Mutation_p.A796V|IFT122_uc003emp.2_Missense_Mutation_p.A757V|IFT122_uc010htc.2_Missense_Mutation_p.A899V|IFT122_uc011bky.1_Missense_Mutation_p.A698V|IFT122_uc003emq.2_Missense_Mutation_p.A747V|IFT122_uc003emr.2_Missense_Mutation_p.A659V|IFT122_uc011bla.1_Missense_Mutation_p.A680V|IFT122_uc010hte.2_Missense_Mutation_p.A233V|IFT122_uc003ems.2_Missense_Mutation_p.A288V|IFT122_uc011bkx.1_Missense_Mutation_p.A747V|IFT122_uc010htd.1_Missense_Mutation_p.A386V	p.A907V	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			22	2926	+			907					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2720C>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	2.133	-0.398595	0.04865	2.27E-4	0.0	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.59772	0.86;0.24;0.35;0.43;1.0;1.0;0.88;1.73	5.62	3.29	0.37713	.	0.186251	0.46442	N	0.000297	T	0.21062	0.0507	N	0.00483	-1.445	0.25161	N	0.990355	B;B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0;0.0;0.0;0.001;0.0;0.001	T	0.22941	-1.0202	10	0.15952	T	0.53	-4.3514	9.1995	0.37249	0.0:0.149:0.0:0.851	.	698;233;899;294;783;747;796;848;907;958	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	V	848;958;899;848;757;783;796;907;747;698	ENSP00000323973:A848V;ENSP00000296266:A958V;ENSP00000425536:A899V;ENSP00000410946:A757V;ENSP00000422179:A783V;ENSP00000324165:A796V;ENSP00000324005:A907V;ENSP00000401569:A698V	ENSP00000296266:A958V	A	+	2	0	IFT122	130708011	0.987000	0.35691	0.918000	0.36340	0.427000	0.31564	2.066000	0.41452	0.438000	0.26450	-0.378000	0.06908	GCG		PASS	0.522	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		13	585	13	585	---	---	---	---
DZIP1L	199221	broad.mit.edu	37	3	137816615	137816615	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:137816615C>T	ENST00000327532.2	-	3	938	c.576G>A	c.(574-576)gtG>gtA	p.V192V	DZIP1L_ENST00000469243.1_Silent_p.V192V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	192					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.V192V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						caccttctgccacgcctgcat	0.592											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003erq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(574-576)GTG>GTA		DAZ interacting protein 1-like							46.0	38.0	41.0					3																	137816615		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137816615C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.576G>A	3.37:g.137816615C>T			OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1636	DZIP1L_uc003err.1_Silent_p.V192V	p.V192V	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			3	939	-			192					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.576G>A	CCDS3096.1																																																																																				PASS	0.592	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		16	38	16	38	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140406900	140406900	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:140406900C>A	ENST00000286349.3	+	3	1567	c.1376C>A	c.(1375-1377)aCc>aAc	p.T459N		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	459	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T459N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGCATCCAGACCACCTACAGG	0.572																																						uc003eto.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1375-1377)ACC>AAC		tripartite motif-containing 42							74.0	58.0	64.0					3																	140406900		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406900C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1376C>A	3.37:g.140406900C>A	ENSP00000286349:p.Thr459Asn						p.T459N	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1567	+			459			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1376C>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.115245	0.01799	.	.	ENSG00000155890	ENST00000286349	T	0.35973	1.28	5.63	-3.31	0.04988	COS domain (1);	0.440036	0.23690	N	0.045525	T	0.11879	0.0289	N	0.04508	-0.205	0.22412	N	0.999123	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	10	0.21014	T	0.42	-16.2389	6.0217	0.19632	0.3921:0.3731:0.2348:0.0	.	459	Q8IWZ5	TRI42_HUMAN	N	459	ENSP00000286349:T459N	ENSP00000286349:T459N	T	+	2	0	TRIM42	141889590	0.978000	0.34361	0.933000	0.37362	0.036000	0.12997	0.051000	0.14141	-0.293000	0.08986	-2.225000	0.00294	ACC		PASS	0.572	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		57	122	57	122	---	---	---	---
CLDN11	5010	broad.mit.edu	37	3	170150353	170150353	+	Missense_Mutation	SNP	G	G	A	rs549752354		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:170150353G>A	ENST00000064724.3	+	3	635	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	145					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A145T(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCCTGTGTGCGCCCACCGTGA	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17627	0.0		0.0	False		,,,				2504	0.0					uc003fgx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(433-435)GCC>ACC		claudin 11							164.0	147.0	153.0					3																	170150353		2203	4300	6503	SO:0001583	missense	5010				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:170150353G>A	AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.433G>A	3.37:g.170150353G>A	ENSP00000064724:p.Ala145Thr					CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.2_Missense_Mutation_p.A61T	p.A145T	NM_005602	NP_005593	O75508	CLD11_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	635	+	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		145			Extracellular (Potential).		B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	37	c.433G>A	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146380	0.77888	.	.	ENSG00000013297	ENST00000064724	D	0.88586	-2.4	5.74	5.74	0.90152	.	0.051247	0.85682	D	0.000000	T	0.80210	0.4581	L	0.31157	0.91	0.80722	D	1	P	0.41214	0.742	B	0.31191	0.125	T	0.80852	-0.1197	10	0.39692	T	0.17	.	13.1577	0.59527	0.0728:0.0:0.9272:0.0	.	145	O75508	CLD11_HUMAN	T	145	ENSP00000064724:A145T	ENSP00000064724:A145T	A	+	1	0	CLDN11	171633047	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	5.137000	0.64789	2.723000	0.93209	0.655000	0.94253	GCC		PASS	0.607	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		146	466	146	466	---	---	---	---
SLC2A2	6514	broad.mit.edu	37	3	170744448	170744448	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:170744448A>G	ENST00000314251.3	-	1	91	c.12T>C	c.(10-12)gaT>gaC	p.D4D	SLC2A2_ENST00000382808.4_5'UTR	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	4					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.D4D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GCTTTACCTTATCTTCTGTCA	0.448																																						uc003fhe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(10-12)GAT>GAC		solute carrier family 2 (facilitated glucose							247.0	211.0	223.0					3																	170744448		2203	4300	6503	SO:0001819	synonymous_variant	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170744448A>G	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.12T>C	3.37:g.170744448A>G						SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_5'UTR	p.D4D	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		1	321	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		4			Cytoplasmic (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	c.12T>C	CCDS3215.1																																																																																				PASS	0.448	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		363	428	363	428	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	171969199	171969199	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:171969199A>G	ENST00000336824.4	+	6	757	c.658A>G	c.(658-660)Aca>Gca	p.T220A	FNDC3B_ENST00000415807.2_Missense_Mutation_p.T220A|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T220A	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	220					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.T220A(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CAGCTGCACAACAGTATACAA	0.532																																						uc003fhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(658-660)ACA>GCA		fibronectin type III domain containing 3B							70.0	70.0	70.0					3																	171969199		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:171969199A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.658A>G	3.37:g.171969199A>G	ENSP00000338523:p.Thr220Ala					FNDC3B_uc003fhz.3_Missense_Mutation_p.T220A|FNDC3B_uc003fia.2_Missense_Mutation_p.T151A	p.T220A	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	6	830	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		220					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.658A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329704	0.24167	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.30182	2.05;2.05;2.05;1.54	5.78	1.82	0.25136	.	0.149163	0.64402	D	0.000014	T	0.17365	0.0417	N	0.25647	0.755	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.06303	-1.0834	10	0.36615	T	0.2	-8.1729	4.703	0.12835	0.6924:0.1234:0.0659:0.1183	.	220;220	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	A	220;220;220;193	ENSP00000411242:T220A;ENSP00000338523:T220A;ENSP00000389094:T220A;ENSP00000389064:T193A	ENSP00000338523:T220A	T	+	1	0	FNDC3B	173451893	0.203000	0.23435	0.062000	0.19696	0.716000	0.41182	0.902000	0.28459	0.390000	0.25115	0.482000	0.46254	ACA		PASS	0.532	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		104	111	104	111	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172834952	172834952	+	Missense_Mutation	SNP	C	C	G	rs368385251		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:172834952C>G	ENST00000351008.3	-	2	753	c.570G>C	c.(568-570)aaG>aaC	p.K190N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	190					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.K190N(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGGCGTATTTCTTTTGTCTAT	0.408																																						uc003fin.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(568-570)AAG>AAC		spermatogenesis associated 16							145.0	143.0	144.0					3																	172834952		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172834952C>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.570G>C	3.37:g.172834952C>G	ENSP00000341765:p.Lys190Asn						p.K190N	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	728	-	Ovarian(172;0.00319)|Breast(254;0.197)		190					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.570G>C	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092342	0.76756	.	.	ENSG00000144962	ENST00000351008	T	0.77229	-1.08	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000008	D	0.82829	0.5122	L	0.29908	0.895	0.39895	D	0.973825	D	0.89917	1.0	D	0.91635	0.999	D	0.85199	0.1014	10	0.87932	D	0	-18.3896	17.6138	0.88063	0.0:1.0:0.0:0.0	.	190	Q9BXB7	SPT16_HUMAN	N	190	ENSP00000341765:K190N	ENSP00000341765:K190N	K	-	3	2	SPATA16	174317646	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.561000	0.67339	2.677000	0.91161	0.650000	0.86243	AAG		PASS	0.408	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		174	704	174	704	---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179311590	179311590	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:179311590C>G	ENST00000476781.1	-	5	525	c.496G>C	c.(496-498)Ggt>Cgt	p.G166R	MRPL47_ENST00000259038.2_Missense_Mutation_p.G146R|MRPL47_ENST00000392659.2_Missense_Mutation_p.G56R	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	166					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.G166R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTCCAAGCACCAGGTCTAGCT	0.438																																						uc003fjz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GGT>CGT		mitochondrial ribosomal protein L47 isoform a							143.0	146.0	145.0					3																	179311590		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179311590C>G	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.496G>C	3.37:g.179311590C>G	ENSP00000417602:p.Gly166Arg					MRPL47_uc003fka.2_Missense_Mutation_p.G56R|MRPL47_uc003fkb.2_Missense_Mutation_p.G146R	p.G166R	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		5	518	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		166					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.496G>C	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410918	0.83340	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46819	1.41;1.45;0.86	6.06	6.06	0.98353	.	0.103350	0.64402	D	0.000003	T	0.71307	0.3324	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.69011	-0.5258	10	0.49607	T	0.09	-8.5233	20.6397	0.99537	0.0:1.0:0.0:0.0	.	146;166	Q9HD33-2;Q9HD33	.;RM47_HUMAN	R	166;146;56	ENSP00000417602:G166R;ENSP00000259038:G146R;ENSP00000376427:G56R	ENSP00000259038:G146R	G	-	1	0	MRPL47	180794284	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.093000	0.71422	2.880000	0.98712	0.650000	0.86243	GGT		PASS	0.438	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		43	346	43	346	---	---	---	---
LAMP3	27074	broad.mit.edu	37	3	182841929	182841929	+	Missense_Mutation	SNP	C	C	A	rs113287351		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:182841929C>A	ENST00000265598.3	-	6	1446	c.1191G>T	c.(1189-1191)atG>atT	p.M397I	LAMP3_ENST00000466939.1_Missense_Mutation_p.M373I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	397					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.M397I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CACCCATACCCATAAGGCAGA	0.433																																						uc003flh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1189-1191)ATG>ATT		lysosomal-associated membrane protein 3							142.0	131.0	134.0					3																	182841929		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841929C>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1191G>T	3.37:g.182841929C>A	ENSP00000265598:p.Met397Ile						p.M397I	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		6	1415	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		397			Helical; (Potential).		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.1191G>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642751	0.29246	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.23348	1.91;1.91	5.92	5.05	0.67936	.	0.871005	0.09721	N	0.764393	T	0.13114	0.0318	N	0.04508	-0.205	0.23346	N	0.997861	B	0.02656	0.0	B	0.04013	0.001	T	0.26052	-1.0114	10	0.17369	T	0.5	-0.2892	11.0412	0.47831	0.0:0.915:0.0:0.085	.	397	Q9UQV4	LAMP3_HUMAN	I	397;373	ENSP00000265598:M397I;ENSP00000418912:M373I	ENSP00000265598:M397I	M	-	3	0	LAMP3	184324623	0.997000	0.39634	0.940000	0.37924	0.654000	0.38779	2.551000	0.45820	1.522000	0.49001	0.561000	0.74099	ATG		PASS	0.433	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			154	298	154	298	---	---	---	---
AP2M1	1173	broad.mit.edu	37	3	183899529	183899529	+	Silent	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:183899529T>C	ENST00000292807.5	+	8	901	c.753T>C	c.(751-753)tgT>tgC	p.C251C	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Silent_p.C249C|AP2M1_ENST00000411763.2_Silent_p.C276C|AP2M1_ENST00000382456.3_Silent_p.C249C|AP2M1_ENST00000461733.1_3'UTR	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	251	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.C251C(1)		endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACCAGTGTGTGCGACTCA	0.527																																						uc011bqx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)TGT>TGC		adaptor-related protein complex 2, mu 1 subunit							108.0	109.0	109.0					3																	183899529		2184	4270	6454	SO:0001819	synonymous_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183899529T>C	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.753T>C	3.37:g.183899529T>C						AP2M1_uc003fmw.2_Silent_p.C249C|AP2M1_uc003fmx.2_Silent_p.C179C|AP2M1_uc003fmy.2_Silent_p.C249C|AP2M1_uc011bqy.1_Silent_p.C121C|AP2M1_uc011bqz.1_Silent_p.C67C	p.C251C	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	910	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		251			MHD.		A6NE12|D3DNT1|P20172|P53679	Silent	SNP	ENST00000292807.5	37	c.753T>C	CCDS43177.1																																																																																				PASS	0.527	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		14	366	14	366	---	---	---	---
FAM43A	131583	broad.mit.edu	37	3	194408707	194408707	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:194408707C>A	ENST00000329759.4	+	1	2086	c.1152C>A	c.(1150-1152)ggC>ggA	p.G384G		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	384								p.G384G(1)		breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		TGCTGTCAGGCGACAGCACGG	0.711																																						uc003fuj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1150-1152)GGC>GGA		hypothetical protein LOC131583							10.0	10.0	10.0					3																	194408707		2034	4016	6050	SO:0001819	synonymous_variant	131583							g.chr3:194408707C>A	AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.1152C>A	3.37:g.194408707C>A							p.G384G	NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)	1	2086	+	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	384					A3KME2|Q8IXP4|Q8WZ07	Silent	SNP	ENST00000329759.4	37	c.1152C>A	CCDS33923.1																																																																																				PASS	0.711	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		10	26	10	26	---	---	---	---
PAK2	5062	broad.mit.edu	37	3	196509561	196509561	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr3:196509561C>A	ENST00000327134.3	+	2	366	c.44C>A	c.(43-45)cCt>cAt	p.P15H	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	15					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.P15H(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCAGCACCTCCTGTGCGAATG	0.423																																						uc003fwy.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(43-45)CCT>CAT		p21-activated kinase 2							113.0	118.0	117.0					3																	196509561		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509561C>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.44C>A	3.37:g.196509561C>A	ENSP00000314067:p.Pro15His						p.P15H	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	366	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		15					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.44C>A	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687410	0.88639	.	.	ENSG00000180370	ENST00000327134	T	0.79653	-1.29	5.21	5.21	0.72293	.	0.053050	0.85682	D	0.000000	D	0.90096	0.6906	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91230	0.5013	10	0.87932	D	0	.	18.756	0.91833	0.0:1.0:0.0:0.0	.	15	Q13177	PAK2_HUMAN	H	15	ENSP00000314067:P15H	ENSP00000314067:P15H	P	+	2	0	PAK2	197993958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.228000	0.78079	2.456000	0.83038	0.655000	0.94253	CCT		PASS	0.423	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		11	685	11	685	---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6303493	6303493	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:6303493G>C	ENST00000226760.1	+	8	2141	c.1971G>C	c.(1969-1971)atG>atC	p.M657I	WFS1_ENST00000503569.1_Missense_Mutation_p.M657I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	657					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.M657I(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CAGAGGGCATGAAGGTCTACA	0.602																																						uc003giy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1969-1971)ATG>ATC		wolframin							219.0	202.0	208.0					4																	6303493		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303493G>C	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1971G>C	4.37:g.6303493G>C	ENSP00000226760:p.Met657Ile					WFS1_uc003gix.2_Missense_Mutation_p.M657I|WFS1_uc003giz.2_Missense_Mutation_p.M475I	p.M657I	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2137	+			657					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1971G>C	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607977	0.28623	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.96300	-3.97;-3.97	5.41	5.41	0.78517	.	0.042834	0.85682	D	0.000000	D	0.95079	0.8406	M	0.75447	2.3	0.46167	D	0.998907	B	0.31879	0.344	B	0.28305	0.088	D	0.93943	0.7225	10	0.17369	T	0.5	-55.9265	18.1725	0.89751	0.0:0.0:1.0:0.0	.	657	O76024	WFS1_HUMAN	I	657;657;35	ENSP00000423337:M657I;ENSP00000226760:M657I	ENSP00000226760:M657I	M	+	3	0	WFS1	6354394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.944000	0.56629	2.547000	0.85894	0.561000	0.74099	ATG		PASS	0.602	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			12	402	12	402	---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39064185	39064185	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:39064185A>G	ENST00000504108.1	+	1	334	c.51A>G	c.(49-51)gcA>gcG	p.A17A	KLHL5_ENST00000261426.5_Silent_p.A17A|KLHL5_ENST00000359687.2_Silent_p.A17A|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261425.3_5'UTR|KLHL5_ENST00000381930.3_Silent_p.A17A	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	17						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A17A(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACAGCAGGGCATATACTTCTC	0.358																																						uc003gts.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(49-51)GCA>GCG		kelch-like 5 isoform 1							188.0	177.0	181.0					4																	39064185		2203	4300	6503	SO:0001819	synonymous_variant	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39064185A>G	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.51A>G	4.37:g.39064185A>G						KLHL5_uc003gtp.2_5'UTR|KLHL5_uc003gtq.2_Intron|KLHL5_uc003gtr.1_Silent_p.A17A|KLHL5_uc003gtt.2_Silent_p.A17A	p.A17A	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			1	126	+			17					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	ENST00000504108.1	37	c.51A>G	CCDS33974.1																																																																																				PASS	0.358	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			105	31	105	31	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41640961	41640961	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:41640961A>T	ENST00000313860.7	+	9	1002	c.948A>T	c.(946-948)agA>agT	p.R316S	LIMCH1_ENST00000381753.4_Intron|LIMCH1_ENST00000512820.1_Intron|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R162S|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R316S|LIMCH1_ENST00000514096.1_Intron|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R157S|LIMCH1_ENST00000513024.1_Intron|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R316S|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R701S|LIMCH1_ENST00000509277.1_Intron|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R316S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	316					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R701S(1)|p.R316S(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACGGTCCGAGAACTCCTGTGT	0.388																																						uc003gvu.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(946-948)AGA>AGT		LIM and calponin homology domains 1 isoform a							136.0	136.0	136.0					4																	41640961		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41640961A>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.948A>T	4.37:g.41640961A>T	ENSP00000316891:p.Arg316Ser					LIMCH1_uc003gvv.3_Missense_Mutation_p.R316S|LIMCH1_uc003gvw.3_Missense_Mutation_p.R316S|LIMCH1_uc003gvx.3_Intron|LIMCH1_uc003gwe.3_Missense_Mutation_p.R316S|LIMCH1_uc003gvy.3_Intron|LIMCH1_uc003gwa.3_Missense_Mutation_p.R157S|LIMCH1_uc003gvz.3_Missense_Mutation_p.R701S|LIMCH1_uc011byu.1_Intron|LIMCH1_uc003gwc.3_Missense_Mutation_p.R162S|LIMCH1_uc003gwd.3_Intron|LIMCH1_uc011byv.1_Missense_Mutation_p.R67S	p.R316S	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			9	1002	+			316					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.948A>T	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.48|13.48	2.250164|2.250164	0.39797|0.39797	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000396595	.|T;T;T;T;T;T;T	.|0.49139	.|1.49;1.48;1.5;1.08;0.79;0.9;1.08	5.87|5.87	3.45|3.45	0.39498|0.39498	.|.	.|0.226721	.|0.45361	.|D	.|0.000363	T|T	0.54838|0.54838	0.1883|0.1883	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B;B;B;D;D;D;D	.|0.76494	.|0.063;0.11;0.104;0.997;0.997;0.999;0.997	.|B;B;B;D;D;D;P	.|0.76575	.|0.076;0.029;0.234;0.988;0.941;0.973;0.889	T|T	0.47824|0.47824	-0.9087|-0.9087	5|10	.|0.21540	.|T	.|0.41	-23.244|-23.244	10.1413|10.1413	0.42736|0.42736	0.8652:0.0:0.1348:0.0|0.8652:0.0:0.1348:0.0	.|.	.|67;316;162;701;316;316;316	.|B7Z3G0;D6RD46;Q9UPQ0-6;G5EA03;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;LIMC1_HUMAN	V|S	151|316;316;316;316;701;157;700;162	.|ENSP00000424825:R316S;ENSP00000424645:R316S;ENSP00000316891:R316S;ENSP00000427045:R316S;ENSP00000425631:R701S;ENSP00000421242:R157S;ENSP00000379840:R162S	.|ENSP00000316891:R316S	E|R	+|+	2|3	0|2	LIMCH1|LIMCH1	41335718|41335718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.040000|4.040000	0.57333|0.57333	1.147000|1.147000	0.42369|0.42369	0.533000|0.533000	0.62120|0.62120	GAA|AGA		PASS	0.388	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		95	33	95	33	---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44685270	44685270	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:44685270G>A	ENST00000281543.5	+	6	798	c.604G>A	c.(604-606)Gat>Aat	p.D202N	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.D202N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GAAGAATGCTGATCCTGAAAG	0.264																																						uc003gww.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(604-606)GAT>AAT		GUF1 GTPase homolog							60.0	66.0	64.0					4																	44685270		2202	4295	6497	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44685270G>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.604G>A	4.37:g.44685270G>A	ENSP00000281543:p.Asp202Asn					GUF1_uc010ifz.1_RNA	p.D202N	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			6	811	+			202						Missense_Mutation	SNP	ENST00000281543.5	37	c.604G>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602511	0.66445	.	.	ENSG00000151806	ENST00000281543	T	0.78246	-1.16	5.36	5.36	0.76844	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.048775	0.85682	D	0.000000	T	0.68366	0.2993	N	0.21373	0.66	0.80722	D	1	B	0.33841	0.428	B	0.32762	0.152	T	0.71056	-0.4703	10	0.59425	D	0.04	-16.2909	18.0969	0.89493	0.0:0.0:1.0:0.0	.	202	Q8N442	GUF1_HUMAN	N	202	ENSP00000281543:D202N	ENSP00000281543:D202N	D	+	1	0	GUF1	44380027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	2.509000	0.84616	0.650000	0.86243	GAT		PASS	0.264	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		16	51	16	51	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88996004	88996004	+	Missense_Mutation	SNP	A	A	G	rs373306069		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:88996004A>G	ENST00000508588.1	+	9	1212	c.817A>G	c.(817-819)Agc>Ggc	p.S273G	PKD2_ENST00000502363.1_Missense_Mutation_p.S273G|PKD2_ENST00000237596.2_Missense_Mutation_p.S855G|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S855G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTCCATCGGCAGCATAGTGTC	0.532																																						uc003hre.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2563-2565)AGC>GGC		polycystin 2		A	GLY/SER	0,4406		0,0,2203	161.0	134.0	143.0		2563	5.1	1.0	4		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKD2	NM_000297.3	56	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	855/969	88996004	1,13005	2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88996004A>G	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.817A>G	4.37:g.88996004A>G	ENSP00000427131:p.Ser273Gly					PKD2_uc011cdf.1_Missense_Mutation_p.S273G|PKD2_uc011cdg.1_Missense_Mutation_p.S181G|PKD2_uc011cdh.1_Missense_Mutation_p.S78G	p.S855G	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	14	2629	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	855			Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2563A>G		.	.	.	.	.	.	.	.	.	.	A	21.5	4.152514	0.78001	0.0	1.16E-4	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.72725	-0.68;-0.68;-0.68	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.35414	1.06	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.73805	-0.3867	10	0.32370	T	0.25	-22.1381	14.9705	0.71229	1.0:0.0:0.0:0.0	.	855	Q13563	PKD2_HUMAN	G	855;273;273	ENSP00000237596:S855G;ENSP00000427131:S273G;ENSP00000425289:S273G	ENSP00000237596:S855G	S	+	1	0	PKD2	89215028	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.064000	0.93933	1.928000	0.55862	0.528000	0.53228	AGC		PASS	0.532	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		52	14	52	14	---	---	---	---
ARHGEF38	54848	broad.mit.edu	37	4	106534585	106534585	+	Silent	SNP	C	C	G	rs372261854		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:106534585C>G	ENST00000420470.2	+	3	573	c.429C>G	c.(427-429)tcC>tcG	p.S143S	ARHGEF38_ENST00000265154.2_Silent_p.S143S	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	143	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S143S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						ACATTGAGTCCGTGCATCAGA	0.433																																						uc003hxu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(427-429)TCC>TCG		hypothetical protein LOC54848							197.0	178.0	184.0					4																	106534585		2203	4300	6503	SO:0001819	synonymous_variant	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106534585C>G	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.429C>G	4.37:g.106534585C>G							p.S143S	NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN			3	575	+			143			DH.		C9JIB4	Silent	SNP	ENST00000420470.2	37	c.429C>G	CCDS56338.1																																																																																				PASS	0.433	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		78	104	78	104	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121702330	121702330	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:121702330C>A	ENST00000264808.3	-	12	1651	c.1411G>T	c.(1411-1413)Gtt>Ttt	p.V471F	PRDM5_ENST00000428209.2_Missense_Mutation_p.V440F|PRDM5_ENST00000515109.1_Missense_Mutation_p.V440F	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	471					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.V471F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAAGGTGTAACAAAGGCCTTA	0.368																																						uc003idn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1411-1413)GTT>TTT		PR domain containing 5							170.0	145.0	153.0					4																	121702330		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121702330C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1411G>T	4.37:g.121702330C>A	ENSP00000264808:p.Val471Phe					PRDM5_uc003ido.2_Missense_Mutation_p.V440F|PRDM5_uc010ine.2_Missense_Mutation_p.V440F	p.V471F	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			12	1661	-			471			C2H2-type 11.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1411G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154232	0.57259	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.19938	2.11;2.11;2.11	5.9	5.9	0.94986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.35341	1.055	0.80722	D	1	D;B;D	0.89917	1.0;0.414;1.0	D;B;D	0.91635	0.999;0.188;0.999	T	0.01757	-1.1280	10	0.19590	T	0.45	-13.6321	20.2704	0.98474	0.0:1.0:0.0:0.0	.	440;440;471	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	F	471;440;440	ENSP00000264808:V471F;ENSP00000422309:V440F;ENSP00000404832:V440F	ENSP00000264808:V471F	V	-	1	0	PRDM5	121921780	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.669000	0.83911	2.793000	0.96121	0.591000	0.81541	GTT		PASS	0.368	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			106	31	106	31	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123270434	123270434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:123270434G>T	ENST00000264501.4	+	78	13775	c.13402G>T	c.(13402-13404)Gga>Tga	p.G4468*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.G4468*			Q2LD37	K1109_HUMAN	KIAA1109	4468					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G4468*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGAGTAGTTGGAGGGACCAT	0.393																																						uc003ieh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(13402-13404)GGA>TGA		fragile site-associated protein							152.0	161.0	158.0					4																	123270434		1909	4115	6024	SO:0001587	stop_gained	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123270434G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13402G>T	4.37:g.123270434G>T	ENSP00000264501:p.Gly4468*					KIAA1109_uc003iem.2_Nonsense_Mutation_p.G824*	p.G4468*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			76	13447	+			4468					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	c.13402G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.880139|7.880139	0.98539|0.98539	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.051482|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77267	.|0.4105	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74047	.|-0.3790	.|4	0.72032|.	D|.	0.01|.	.|.	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	4468;4468;1137;69|843	.|.	ENSP00000264501:G4468X|.	G|L	+|+	1|3	0|2	KIAA1109|KIAA1109	123489884|123489884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GGA|TTG		PASS	0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		33	60	33	60	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164050110	164050110	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:164050110G>A	ENST00000274054.2	-	8	1617	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	475	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P475L(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				aggcagtggtggagggggagg	0.488																																						uc003iqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1423-1425)CCA>CTA		nuclear assembly factor 1 homolog isoform a							12.0	13.0	12.0					4																	164050110		2187	4266	6453	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050110G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1424C>T	4.37:g.164050110G>A	ENSP00000274054:p.Pro475Leu					NAF1_uc010iqw.1_Intron	p.P475L	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1618	-	all_hematologic(180;0.166)	Prostate(90;0.109)	475			Pro-rich.		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1424C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741465	0.30865	.	.	ENSG00000145414	ENST00000274054	T	0.34072	1.38	4.58	3.72	0.42706	.	0.420370	0.25532	N	0.030021	T	0.31389	0.0795	L	0.32530	0.975	0.43555	D	0.99586	D	0.58268	0.982	P	0.50192	0.634	T	0.03413	-1.1039	10	0.11794	T	0.64	-6.5796	10.4882	0.44735	0.0:0.0:0.8054:0.1946	.	475	Q96HR8	NAF1_HUMAN	L	475	ENSP00000274054:P475L	ENSP00000274054:P475L	P	-	2	0	NAF1	164269560	0.999000	0.42202	0.067000	0.19924	0.111000	0.19643	3.086000	0.50159	1.191000	0.43056	0.655000	0.94253	CCA		PASS	0.488	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		12	9	12	9	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187628543	187628543	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:187628543G>A	ENST00000441802.2	-	2	2648	c.2439C>T	c.(2437-2439)gtC>gtT	p.V813V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	813	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V813V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATTGGCATCGACAACCACGA	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(2437-2439)GTC>GTT		FAT tumor suppressor 1 precursor							187.0	184.0	185.0					4																	187628543		1959	4145	6104	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628543G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2439C>T	4.37:g.187628543G>A		HNSCC(5;0.00058)				FAT1_uc010iso.1_Silent_p.V813V	p.V813V	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2627	-			813			Extracellular (Potential).|Cadherin 6.			Silent	SNP	ENST00000441802.2	37	c.2439C>T	CCDS47177.1																																																																																				PASS	0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		110	164	110	164	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	182161	182161	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:182161A>T	ENST00000283426.6	+	18	3589	c.3539A>T	c.(3538-3540)cAc>cTc	p.H1180L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1180	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H1180L(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCCTCTGACCACGCCGCCCCC	0.612																																						uc003jak.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3538-3540)CAC>CTC		pleckstrin homology domain containing, family G							110.0	100.0	104.0					5																	182161		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182161A>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3539A>T	5.37:g.182161A>T	ENSP00000283426:p.His1180Leu						p.H1180L	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3589	+			1180			Ser-rich.			Missense_Mutation	SNP	ENST00000283426.6	37	c.3539A>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738634	0.30774	.	.	ENSG00000153404	ENST00000283426	T	0.32753	1.44	3.55	-2.24	0.06909	.	.	.	.	.	T	0.15696	0.0378	N	0.14661	0.345	0.09310	N	1	B	0.19073	0.033	B	0.23275	0.045	T	0.27571	-1.0070	9	0.29301	T	0.29	.	7.4728	0.27359	0.529:0.0:0.471:0.0	.	1180	Q96PX9	PKH4B_HUMAN	L	1180	ENSP00000283426:H1180L	ENSP00000283426:H1180L	H	+	2	0	PLEKHG4B	235161	0.995000	0.38212	0.000000	0.03702	0.002000	0.02628	3.416000	0.52707	-0.921000	0.03794	0.383000	0.25322	CAC		PASS	0.612	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		81	132	81	132	---	---	---	---
SLC6A18	348932	broad.mit.edu	37	5	1232415	1232415	+	Missense_Mutation	SNP	G	G	T	rs148359610		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:1232415G>T	ENST00000324642.3	+	2	365	c.242G>T	c.(241-243)cGg>cTg	p.R81L	SLC6A18_ENST00000296821.4_Missense_Mutation_p.R81L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	81					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.R81L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATCGGCCAGCGGCTGCGGAAG	0.667																																						uc003jby.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)CGG>CTG		solute carrier family 6, member 18							38.0	38.0	38.0					5																	1232415		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232415G>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.242G>T	5.37:g.1232415G>T	ENSP00000323549:p.Arg81Leu						p.R81L	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	365	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		81			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.242G>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143521	0.77888	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.74737	-0.87;-0.87	5.45	4.58	0.56647	.	0.139843	0.46758	D	0.000276	D	0.83022	0.5164	M	0.75447	2.3	0.41659	D	0.989175	D	0.57257	0.979	P	0.61132	0.884	D	0.84916	0.0851	10	0.66056	D	0.02	.	12.3469	0.55126	0.0801:0.0:0.9199:0.0	.	81	Q96N87	S6A18_HUMAN	L	81	ENSP00000323549:R81L;ENSP00000296821:R81L	ENSP00000296821:R81L	R	+	2	0	SLC6A18	1285415	1.000000	0.71417	0.996000	0.52242	0.173000	0.22820	4.630000	0.61297	1.300000	0.44818	0.491000	0.48974	CGG		PASS	0.667	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		6	7	6	7	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5306799	5306799	+	Silent	SNP	G	G	A	rs200762006		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:5306799G>A	ENST00000274181.7	+	21	3507	c.3369G>A	c.(3367-3369)gcG>gcA	p.A1123A		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1123					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1123A(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTGCTGCTGCGGGACCCTCGA	0.662																																						uc003jdl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(3367-3369)GCG>GCA		ADAM metallopeptidase with thrombospondin type 1							22.0	24.0	24.0					5																	5306799		1906	4126	6032	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306799G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3369G>A	5.37:g.5306799G>A							p.A1123A	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			21	3507	+			1123					C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3369G>A	CCDS43299.1																																																																																				PASS	0.662	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		22	38	22	38	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5463581	5463582	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:5463581_5463582GG>TC	ENST00000296564.7	+	13	4356_4357	c.4134_4135GG>TC	c.(4132-4137)atGGag>atTCag	p.1378_1379ME>IQ		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1378					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.M1378I(1)|p.E1379Q(1)|p.M1378_E1379>IQ(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTCTGTGATGGAGCCATCCAT	0.49																																						uc003jdm.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(4132-4134)ATG>ATT|c.(4135-4137)GAG>CAG		hypothetical protein LOC23379																																				SO:0001583	missense	23379							g.chr5:5463581G>T|g.chr5:5463582G>C																												Exception_encountered	5.37:g.5463581_5463582delinsTC	ENSP00000296564:p.M1378_E1379delinsIQ						p.M1378I|p.E1379Q	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	4356|4357	+			1378|1379					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4134G>T|c.4135G>C	CCDS47187.1																																																																																				PASS	0.490	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			19|20	21	19	21	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6607388	6607388	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:6607388C>A	ENST00000264670.6	-	13	1744	c.1433G>T	c.(1432-1434)gGa>gTa	p.G478V	NSUN2_ENST00000506139.1_Missense_Mutation_p.G443V|NSUN2_ENST00000539938.1_Missense_Mutation_p.G242V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	478					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.G478V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GTCACCAGTTCCTGTGAATGA	0.458																																						uc003jdu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1432-1434)GGA>GTA		NOL1/NOP2/Sun domain family, member 2							272.0	259.0	263.0					5																	6607388		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6607388C>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1433G>T	5.37:g.6607388C>A	ENSP00000264670:p.Gly478Val					NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Missense_Mutation_p.G242V|NSUN2_uc011cmk.1_Missense_Mutation_p.G443V|NSUN2_uc003jdv.2_Missense_Mutation_p.G242V	p.G478V	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			13	1498	-			478					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1433G>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.068008	0.20067	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.55234	1.26;0.53;1.26	5.61	1.31	0.21738	.	0.744007	0.13414	N	0.389681	T	0.33147	0.0853	L	0.31294	0.92	0.33484	D	0.587864	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.002	T	0.27088	-1.0084	10	0.23891	T	0.37	-10.4586	3.7063	0.08401	0.0:0.2695:0.2063:0.5242	.	443;478	B4DQW2;Q08J23	.;NSUN2_HUMAN	V	478;242;443	ENSP00000264670:G478V;ENSP00000444338:G242V;ENSP00000420957:G443V	ENSP00000264670:G478V	G	-	2	0	NSUN2	6660388	0.011000	0.17503	0.002000	0.10522	0.169000	0.22640	0.262000	0.18460	0.062000	0.16340	-0.136000	0.14681	GGA		PASS	0.458	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		326	403	326	403	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19591263	19591263	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:19591263G>A	ENST00000507958.1	-	9	1892	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDH18_ENST00000506372.1_Missense_Mutation_p.A301V|CDH18_ENST00000511273.1_Missense_Mutation_p.A301V|CDH18_ENST00000274170.4_Missense_Mutation_p.A301V|CDH18_ENST00000502796.1_Missense_Mutation_p.A301V|CDH18_ENST00000382275.1_Missense_Mutation_p.A301V			Q13634	CAD18_HUMAN	cadherin 18, type 2	301	Cadherin 3. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A301V(4)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGTCATGTCAGCATTTGAGCC	0.423																																						uc003jgc.2																			4	Substitution - Missense(4)		lung(4)	ovary(5)|large_intestine(1)|skin(1)	7						c.(901-903)GCT>GTT		cadherin 18, type 2 preproprotein							164.0	138.0	147.0					5																	19591263		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19591263G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.902C>T	5.37:g.19591263G>A	ENSP00000425093:p.Ala301Val					CDH18_uc003jgd.2_Missense_Mutation_p.A301V|CDH18_uc011cnm.1_Missense_Mutation_p.A301V	p.A301V	NM_004934	NP_004925	Q13634	CAD18_HUMAN			6	1279	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		301			Extracellular (Potential).|Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.902C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201297	0.94997	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	H	0.96833	3.89	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.85502	0.1192	9	.	.	.	.	17.3872	0.87420	0.0:0.0:1.0:0.0	.	301;301	B4DHG6;Q13634	.;CAD18_HUMAN	V	301;301;301;301;301;301;247;301	ENSP00000371710:A301V;ENSP00000425093:A301V;ENSP00000274170:A301V;ENSP00000424931:A301V;ENSP00000422138:A301V;ENSP00000427383:A247V;ENSP00000425854:A301V	.	A	-	2	0	CDH18	19627020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.428000	0.82296	0.650000	0.86243	GCT		PASS	0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		148	154	148	154	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31323238	31323238	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:31323238C>T	ENST00000265071.2	+	12	2461	c.2196C>T	c.(2194-2196)taC>taT	p.Y732Y		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	732					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y732Y(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCCGCCATACGACTCCTTGG	0.542																																						uc003jhe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(2194-2196)TAC>TAT		cadherin 6, type 2 preproprotein							43.0	44.0	44.0					5																	31323238		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323238C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2196C>T	5.37:g.31323238C>T							p.Y732Y	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2522	+			732			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.2196C>T	CCDS3894.1																																																																																				PASS	0.542	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		15	65	15	65	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36684019	36684019	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:36684019T>A	ENST00000265113.4	+	9	1819	c.1343T>A	c.(1342-1344)cTg>cAg	p.L448Q	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Intron	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	448					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.L448Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGCGGGCCTGGTCACTATG	0.542																																						uc003jkj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)CTG>CAG		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						123.0	105.0	111.0					5																	36684019		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36684019T>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1343T>A	5.37:g.36684019T>A	ENSP00000265113:p.Leu448Gln					SLC1A3_uc011cox.1_Missense_Mutation_p.L341Q|SLC1A3_uc010iuy.2_Intron	p.L448Q	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1819	+	all_lung(31;0.000245)		448					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.1343T>A	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.953430	0.92660	.	.	ENSG00000079215	ENST00000265113;ENST00000427100	T	0.62941	-0.01	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.86264	0.5891	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90921	0.4783	10	0.87932	D	0	-14.4244	16.0502	0.80755	0.0:0.0:0.0:1.0	.	448	P43003	EAA1_HUMAN	Q	448;396	ENSP00000265113:L448Q	ENSP00000265113:L448Q	L	+	2	0	SLC1A3	36719776	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	8.033000	0.88852	2.197000	0.70478	0.528000	0.53228	CTG		PASS	0.542	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		83	99	83	99	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41008872	41008872	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:41008872C>A	ENST00000399564.4	-	33	3894	c.3444G>T	c.(3442-3444)gtG>gtT	p.V1148V	MROH2B_ENST00000506092.2_Silent_p.V703V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1148								p.V1148V(1)									CCATTGAGATCACTTCATACA	0.527																																						uc003jmj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3442-3444)GTG>GTT		HEAT repeat family member 7B2							52.0	54.0	53.0					5																	41008872		1996	4173	6169	SO:0001819	synonymous_variant	133558						binding	g.chr5:41008872C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3444G>T	5.37:g.41008872C>A						HEATR7B2_uc003jmi.3_Silent_p.V703V	p.V1148V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			33	3934	-			1148			HEAT 12.		Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3444G>T	CCDS47202.1																																																																																				PASS	0.527	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		17	56	17	56	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43506365	43506365	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:43506365A>G	ENST00000306862.2	-	4	792	c.417T>C	c.(415-417)tcT>tcC	p.S139S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	139								p.S139S(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					ATTCATGCTGAGATCTGGGCA	0.398																																						uc003jnz.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(415-417)TCT>TCC		hypothetical protein LOC375444							111.0	98.0	103.0					5																	43506365		2203	4300	6503	SO:0001819	synonymous_variant	375444							g.chr5:43506365A>G	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.417T>C	5.37:g.43506365A>G						C5orf34_uc011cpx.1_Silent_p.S25S	p.S139S	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			5	734	-	Lung NSC(6;2.07e-05)		139						Silent	SNP	ENST00000306862.2	37	c.417T>C	CCDS3946.1																																																																																				PASS	0.398	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		73	244	73	244	---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83360518	83360518	+	Splice_Site	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:83360518C>T	ENST00000296591.5	-	8	1371		c.e8+1		EDIL3_ENST00000510271.1_Splice_Site|EDIL3_ENST00000380138.3_Splice_Site	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3						cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.?(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTGAGACTTACCCGACAGTTC	0.363																																						uc003kio.1																			1	Unknown(1)		lung(1)	skin(2)	2						c.e8+1		EGF-like repeats and discoidin I-like							78.0	75.0	76.0					5																	83360518		2203	4300	6503	SO:0001630	splice_region_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83360518C>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.952+1G>A	5.37:g.83360518C>T						EDIL3_uc003kip.1_Splice_Site_p.G308_splice|EDIL3_uc011ctt.1_Splice_Site_p.G95_splice	p.G318_splice	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	8	1371	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)						B2R763|O43855|Q5D094|Q8N610	Splice_Site	SNP	ENST00000296591.5	37	c.952_splice	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641997	0.67244	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2926	0.94108	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EDIL3	83396274	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.387000	0.79785	2.631000	0.89168	0.460000	0.39030	.		PASS	0.363	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	Intron	62	11	62	11	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132409706	132409706	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:132409706A>G	ENST00000304858.2	+	6	840	c.551A>G	c.(550-552)tAt>tGt	p.Y184C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	184					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.Y184C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGGAATCTATAAGCAGGAT	0.318																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(550-552)TAT>TGT		heat shock 70kDa protein 4							59.0	58.0	59.0					5																	132409706		2203	4299	6502	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132409706A>G	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.551A>G	5.37:g.132409706A>G	ENSP00000302961:p.Tyr184Cys						p.Y184C	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	832	+			184					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.551A>G	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299755	0.81136	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01034	5.42	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	M	0.92026	3.265	0.80722	D	1	D	0.67145	0.996	D	0.64237	0.923	T	0.00660	-1.1622	10	0.87932	D	0	-14.8991	16.1413	0.81528	1.0:0.0:0.0:0.0	.	184	P34932	HSP74_HUMAN	C	184	ENSP00000302961:Y184C	ENSP00000302961:Y184C	Y	+	2	0	HSPA4	132437605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.270000	0.75569	0.482000	0.46254	TAT		PASS	0.318	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		59	12	59	12	---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137680859	137680859	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:137680859A>G	ENST00000239906.5	+	4	910	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.Q161R|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	161								p.Q161R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTGCCTCACCAGAGCCCCCCA	0.662																																						uc003lcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)CAG>CGG		hypothetical protein LOC51307							89.0	102.0	98.0					5																	137680859		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137680859A>G	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.482A>G	5.37:g.137680859A>G	ENSP00000239906:p.Gln161Arg					FAM53C_uc003lcw.2_Missense_Mutation_p.Q161R|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	p.Q161R	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	952	+			161					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.482A>G	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.545078	0.65198	.	.	ENSG00000120709	ENST00000434981;ENST00000239906;ENST00000511276	T;T;T	0.48522	0.81;0.81;0.81	6.08	4.91	0.64330	.	0.499782	0.22739	N	0.056240	T	0.48960	0.1529	L	0.53249	1.67	0.80722	D	1	P	0.38800	0.648	B	0.43658	0.426	T	0.38607	-0.9653	9	.	.	.	-7.8707	12.6999	0.57026	0.8621:0.1379:0.0:0.0	.	161	Q9NYF3	FA53C_HUMAN	R	161;161;151	ENSP00000403705:Q161R;ENSP00000239906:Q161R;ENSP00000427610:Q151R	.	Q	+	2	0	FAM53C	137708758	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	4.443000	0.59994	1.106000	0.41623	0.533000	0.62120	CAG		PASS	0.662	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		106	19	106	19	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156957872	156957872	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:156957872C>A	ENST00000517905.1	-	5	394	c.350G>T	c.(349-351)gGc>gTc	p.G117V	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000257527.4_Missense_Mutation_p.G117V|ADAM19_ENST00000394020.1_Missense_Mutation_p.G119V			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	117					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G118V(1)|p.G117V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCACCGTGCCGTGGTAAAA	0.537																																						uc003lwz.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(349-351)GGC>GTC		ADAM metallopeptidase domain 19 preproprotein							120.0	95.0	103.0					5																	156957872		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156957872C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.350G>T	5.37:g.156957872C>A	ENSP00000428654:p.Gly117Val					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.G48V	p.G117V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	414	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	117					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.350G>T		.	.	.	.	.	.	.	.	.	.	C	14.96	2.691925	0.48097	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.51817	0.69;0.69;0.69	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000002	T	0.78266	0.4256	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84883	0.0832	10	0.87932	D	0	.	14.831	0.70149	0.0:1.0:0.0:0.0	.	117	Q9H013-2	.	V	117;119;117	ENSP00000257527:G117V;ENSP00000377588:G119V;ENSP00000428654:G117V	ENSP00000257527:G117V	G	-	2	0	ADAM19	156890450	0.936000	0.31750	0.577000	0.28562	0.164000	0.22412	4.456000	0.60081	2.636000	0.89361	0.655000	0.94253	GGC		PASS	0.537	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		76	19	76	19	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6318807	6318807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:6318807C>A	ENST00000264870.3	-	2	356	c.91G>T	c.(91-93)Gag>Tag	p.E31*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	31					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.E31*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCTGAAGCTCCACTGTGGGC	0.592																																						uc003mwv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(91-93)GAG>TAG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						144.0	128.0	133.0					6																	6318807		2203	4300	6503	SO:0001587	stop_gained	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6318807C>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.91G>T	6.37:g.6318807C>A	ENSP00000264870:p.Glu31*					F13A1_uc011dib.1_Nonsense_Mutation_p.E31*	p.E31*	NM_000129	NP_000120	P00488	F13A_HUMAN			2	214	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	31					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Nonsense_Mutation	SNP	ENST00000264870.3	37	c.91G>T	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.991268|2.991268	0.54041|0.54041	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222|ENST00000451619	.|.	.|.	.|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.392108|.	0.27912|.	N|.	0.017353|.	.|T	.|0.55178	.|0.1904	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56739	.|-0.7929	.|3	0.56958|.	D|.	0.05|.	.|.	14.3795|14.3795	0.66902|0.66902	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|C	31;31;31;69|55	.|.	ENSP00000264870:E31X|.	E|W	-|-	1|3	0|0	F13A1|F13A1	6263806|6263806	0.999000|0.999000	0.42202|0.42202	0.800000|0.800000	0.32199|0.32199	0.008000|0.008000	0.06430|0.06430	3.877000|3.877000	0.56123|0.56123	2.400000|2.400000	0.81607|0.81607	0.643000|0.643000	0.83706|0.83706	GAG|TGG		PASS	0.592	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		182	145	182	145	---	---	---	---
HIST1H3I	8354	broad.mit.edu	37	6	27839938	27839938	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:27839938G>A	ENST00000328488.2	-	1	161	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	52					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.I52I(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGTAGCGGCGGATCTCGCGCA	0.652																																						uc003njy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(154-156)ATC>ATT		histone cluster 1, H3i							52.0	58.0	56.0					6																	27839938		2203	4300	6503	SO:0001819	synonymous_variant	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839938G>A	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.156C>T	6.37:g.27839938G>A							p.I52I	NM_003533	NP_003524	P68431	H31_HUMAN			1	162	-			52					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	c.156C>T	CCDS4636.1																																																																																				PASS	0.652	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		28	95	28	95	---	---	---	---
TRIM26	7726	broad.mit.edu	37	6	30166457	30166457	+	Missense_Mutation	SNP	C	C	T	rs370667148		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:30166457C>T	ENST00000454678.2	-	4	860	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	TRIM26_ENST00000453195.1_Missense_Mutation_p.A142T|TRIM26_ENST00000437089.1_Missense_Mutation_p.A142T|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	142					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.A142T(1)		lung(1)|ovary(2)	3						TGGGGCTGGGCGGCCTTCTCC	0.647																																						uc003npr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(424-426)GCC>ACC		tripartite motif-containing 26		C	THR/ALA,THR/ALA	0,3016		0,0,1508	29.0	28.0	28.0		424,424	5.6	1.0	6		28	1,5415		0,1,2707	no	missense,missense	TRIM26	NM_001242783.1,NM_003449.4	58,58	0,1,4215	TT,TC,CC		0.0185,0.0,0.0119	probably-damaging,probably-damaging	142/540,142/540	30166457	1,8431	1508	2708	4216	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166457C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.424G>A	6.37:g.30166457C>T	ENSP00000410446:p.Ala142Thr					TRIM26_uc003nps.2_Missense_Mutation_p.A142T|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.A142T|TRIM26_uc003npu.1_Missense_Mutation_p.A142T	p.A142T	NM_003449	NP_003440	Q12899	TRI26_HUMAN			3	633	-			142					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.424G>A	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909414	0.72868	0.0	1.85E-4	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000418026	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.59	5.59	0.84812	.	0.000000	0.48767	D	0.000175	T	0.71846	0.3388	M	0.84326	2.69	0.26750	N	0.970226	D	0.89917	1.0	D	0.76575	0.988	T	0.68010	-0.5522	10	0.51188	T	0.08	.	17.0723	0.86578	0.0:1.0:0.0:0.0	.	142	Q12899	TRI26_HUMAN	T	142	ENSP00000391879:A142T;ENSP00000410446:A142T;ENSP00000395491:A142T;ENSP00000413673:A142T;ENSP00000387530:A142T	ENSP00000413673:A142T	A	-	1	0	TRIM26	30274436	0.005000	0.15991	0.963000	0.40424	0.605000	0.37080	1.600000	0.36762	2.631000	0.89168	0.643000	0.83706	GCC		PASS	0.647	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		29	17	29	17	---	---	---	---
KCNK17	89822	broad.mit.edu	37	6	39272395	39272395	+	Missense_Mutation	SNP	C	C	A	rs142227833		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:39272395C>A	ENST00000373231.4	-	3	621	c.389G>T	c.(388-390)cGc>cTc	p.R130L	KCNK17_ENST00000453413.2_Missense_Mutation_p.R130L	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	130					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R130L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGAAGAGGCGGGCAGCCAT	0.612																																						uc003ooo.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(388-390)CGC>CTC		potassium channel, subfamily K, member 17							141.0	142.0	142.0					6																	39272395		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39272395C>A	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.389G>T	6.37:g.39272395C>A	ENSP00000362328:p.Arg130Leu					KCNK17_uc003oop.2_Missense_Mutation_p.R130L	p.R130L	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			3	529	-			130			Helical; (Potential).		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.389G>T	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986502	0.74589	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.41400	1.0;1.0	4.87	3.99	0.46301	Ion transport 2 (1);	0.111955	0.38164	N	0.001798	T	0.59649	0.2209	H	0.95004	3.61	0.30959	N	0.723852	D;D	0.65815	0.995;0.995	D;D	0.71414	0.973;0.962	T	0.65344	-0.6191	10	0.87932	D	0	.	7.9952	0.30265	0.0:0.8077:0.0:0.1923	.	130;130	E9PB46;Q96T54	.;KCNKH_HUMAN	L	130	ENSP00000362328:R130L;ENSP00000401271:R130L	ENSP00000362328:R130L	R	-	2	0	KCNK17	39380373	0.922000	0.31269	0.994000	0.49952	0.908000	0.53690	1.535000	0.36061	1.007000	0.39238	0.561000	0.74099	CGC		PASS	0.612	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		64	200	64	200	---	---	---	---
APOBEC2	10930	broad.mit.edu	37	6	41029512	41029512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:41029512G>T	ENST00000244669.2	+	2	621	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	193					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E193*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAATTTTGTGGAGCAAGAAGA	0.522																																					Ovarian(118;1320 2185 8096 29684)	uc003opl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(577-579)GAG>TAG		apolipoprotein B mRNA editing enzyme, catalytic							76.0	81.0	79.0					6																	41029512		2203	4300	6503	SO:0001587	stop_gained	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029512G>T	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.577G>T	6.37:g.41029512G>T	ENSP00000244669:p.Glu193*					UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_RNA	p.E193*	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN			2	724	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		193					B2R899|Q53F28|Q5TGU5|Q5TGU6	Nonsense_Mutation	SNP	ENST00000244669.2	37	c.577G>T	CCDS4848.1	.	.	.	.	.	.	.	.	.	.	g	33	5.233187	0.95207	.	.	ENSG00000124701	ENST00000244669	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.2718	0.94013	0.0:0.0:1.0:0.0	.	.	.	.	X	193	.	ENSP00000244669:E193X	E	+	1	0	APOBEC2	41137490	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.472000	0.97709	2.789000	0.95967	0.651000	0.88453	GAG		PASS	0.522	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		14	277	14	277	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42821415	42821415	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:42821415G>C	ENST00000314073.5	+	8	2161	c.1985G>C	c.(1984-1986)gGa>gCa	p.G662A	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G662A			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	662								p.G662A(1)									GCATCCTTAGGAACCGCACAA	0.428																																						uc003osn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1984-1986)GGA>GCA		hypothetical protein LOC23506							146.0	127.0	134.0					6																	42821415		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42821415G>C	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1985G>C	6.37:g.42821415G>C	ENSP00000313933:p.Gly662Ala					KIAA0240_uc011duw.1_Missense_Mutation_p.G662A|KIAA0240_uc003osp.1_Missense_Mutation_p.G662A	p.G662A	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		8	2136	+	Colorectal(47;0.196)		662					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1985G>C	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265548	0.40095	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.47177	0.85;0.85	4.76	4.76	0.60689	.	0.000000	0.56097	D	0.000024	T	0.27169	0.0666	L	0.44542	1.39	0.44380	D	0.997287	B	0.27068	0.167	B	0.27380	0.079	T	0.08743	-1.0707	10	0.27785	T	0.31	-3.8981	15.9639	0.79952	0.0:0.0:1.0:0.0	.	662	Q6AI39	K0240_HUMAN	A	662	ENSP00000313933:G662A;ENSP00000377723:G662A	ENSP00000313933:G662A	G	+	2	0	KIAA0240	42929393	1.000000	0.71417	0.959000	0.39883	0.541000	0.35023	5.895000	0.69814	2.186000	0.69663	0.462000	0.41574	GGA		PASS	0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		60	139	60	139	---	---	---	---
TINAG	27283	broad.mit.edu	37	6	54173458	54173458	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:54173458G>A	ENST00000259782.4	+	1	206	c.110G>A	c.(109-111)aGg>aAg	p.R37K	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.R33K|TINAG_ENST00000370864.3_Missense_Mutation_p.R19K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	37					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R37K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TATTTCACTAGGAATCACACC	0.388																																						uc003pcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(109-111)AGG>AAG		tubulointerstitial nephritis antigen							123.0	115.0	117.0					6																	54173458		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173458G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.110G>A	6.37:g.54173458G>A	ENSP00000259782:p.Arg37Lys					TINAG_uc003pci.2_Missense_Mutation_p.R37K|TINAG_uc010jzt.2_RNA	p.R37K	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	256	+	Lung NSC(77;0.0518)		37					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.110G>A	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	7.641	0.680966	0.14907	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.64260	2.0;-0.09;1.99	5.88	4.12	0.48240	.	0.306414	0.32819	N	0.005602	T	0.34077	0.0885	M	0.67953	2.075	0.18873	N	0.999982	B;B	0.22346	0.0;0.068	B;B	0.15484	0.001;0.013	T	0.20773	-1.0265	10	0.19147	T	0.46	.	8.3938	0.32544	0.0818:0.1551:0.7631:0.0	.	37;37	Q9UJW2;Q7Z477	TINAG_HUMAN;.	K	33;37;37;19	ENSP00000359906:R33K;ENSP00000259782:R37K;ENSP00000359901:R19K	ENSP00000259782:R37K	R	+	2	0	TINAG	54281417	0.336000	0.24757	0.812000	0.32479	0.035000	0.12851	1.193000	0.32162	0.853000	0.35312	-0.189000	0.12847	AGG		PASS	0.388	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		82	226	82	226	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55264052	55264052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:55264052G>T	ENST00000340465.2	+	7	1113	c.1027G>T	c.(1027-1029)Gga>Tga	p.G343*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	343					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G343*(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACTTTAACTGGATTTCATTC	0.289																																						uc003pcm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1027-1029)GGA>TGA		GDNF family receptor alpha like precursor							40.0	38.0	39.0					6																	55264052		2202	4292	6494	SO:0001587	stop_gained	389400					integral to membrane	receptor activity	g.chr6:55264052G>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.1027G>T	6.37:g.55264052G>T	ENSP00000343636:p.Gly343*						p.G343*	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1113	+	Lung NSC(77;0.0875)|Renal(3;0.122)		343			Extracellular (Potential).		Q5VTF6	Nonsense_Mutation	SNP	ENST00000340465.2	37	c.1027G>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199795	0.94997	.	.	ENSG00000187871	ENST00000340465	.	.	.	5.79	5.79	0.91817	.	0.445572	0.19462	N	0.113664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.3889	15.5372	0.76013	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000343636:G343X	G	+	1	0	GFRAL	55372011	0.788000	0.28762	0.172000	0.22920	0.723000	0.41478	2.133000	0.42093	2.734000	0.93682	0.655000	0.94253	GGA		PASS	0.289	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		13	25	13	25	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80744784	80744784	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:80744784A>G	ENST00000369798.2	+	15	1808	c.1697A>G	c.(1696-1698)gAt>gGt	p.D566G	TTK_ENST00000509894.1_Missense_Mutation_p.D565G|TTK_ENST00000230510.3_Missense_Mutation_p.D565G	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	566	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D550G(1)|p.D566G(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAACTCTTGATAGTTACCGG	0.289																																						uc003pjc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(1696-1698)GAT>GGT		TTK protein kinase							76.0	83.0	80.0					6																	80744784		2202	4285	6487	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80744784A>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1697A>G	6.37:g.80744784A>G	ENSP00000358813:p.Asp566Gly					TTK_uc003pjb.3_Missense_Mutation_p.D565G	p.D566G	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	15	1771	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	566			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1697A>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256129	0.59321	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65732	-0.17;-0.17;-0.17	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.361376	0.33916	N	0.004423	T	0.48607	0.1509	L	0.45422	1.42	0.45762	D	0.998653	B;B	0.21753	0.016;0.06	B;B	0.34722	0.104;0.188	T	0.53556	-0.8422	10	0.51188	T	0.08	.	15.0814	0.72117	1.0:0.0:0.0:0.0	.	566;565	P33981;A8K8U5	TTK_HUMAN;.	G	565;565;566	ENSP00000422936:D565G;ENSP00000230510:D565G;ENSP00000358813:D566G	ENSP00000230510:D565G	D	+	2	0	TTK	80801503	1.000000	0.71417	0.910000	0.35882	0.988000	0.76386	8.962000	0.93254	2.161000	0.67846	0.455000	0.32223	GAT		PASS	0.289	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			36	124	36	124	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853833	88853833	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:88853833C>T	ENST00000537554.1	-	2	4723	c.1161G>A	c.(1159-1161)ctG>ctA	p.L387L	CNR1_ENST00000428600.2_Silent_p.L387L|CNR1_ENST00000549890.1_Silent_p.L387L|CNR1_ENST00000549716.1_Silent_p.L326L|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.L387L|CNR1_ENST00000535130.1_Silent_p.L387L|CNR1_ENST00000468898.1_Silent_p.L354L|CNR1_ENST00000369501.2_Silent_p.L387L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	387					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.L387L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGGAGTTCAGCAGGCAGAGCA	0.522																																						uc011dzq.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1159-1161)CTG>CTA		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						124.0	114.0	117.0					6																	88853833		2203	4300	6503	SO:0001819	synonymous_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853833C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1161G>A	6.37:g.88853833C>T						CNR1_uc010kbz.2_Silent_p.L387L|CNR1_uc011dzr.1_Silent_p.L387L|CNR1_uc011dzs.1_Silent_p.L387L|CNR1_uc003pmq.3_Silent_p.L387L|CNR1_uc011dzt.1_Silent_p.L387L|CNR1_uc010kca.2_Silent_p.L354L	p.L387L	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4724	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	387			Helical; Name=7; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.1161G>A	CCDS5015.1																																																																																				PASS	0.522	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			50	190	50	190	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90450019	90450019	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:90450019C>T	ENST00000369393.3	-	32	4642	c.4527G>A	c.(4525-4527)ttG>ttA	p.L1509L	MDN1_ENST00000428876.1_Silent_p.L1509L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1509					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L1509L(2)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCCAGCAGTCAACAGCTCTA	0.388																																						uc003pnn.1																			2	Substitution - coding silent(2)		lung(1)|breast(1)	ovary(8)|skin(2)	10						c.(4525-4527)TTG>TTA		MDN1, midasin homolog							121.0	117.0	119.0					6																	90450019		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90450019C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4527G>A	6.37:g.90450019C>T							p.L1509L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	32	4643	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1509					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.4527G>A	CCDS5024.1																																																																																				PASS	0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			57	222	57	222	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109797403	109797403	+	Silent	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:109797403T>C	ENST00000230122.3	-	4	1346	c.1179A>G	c.(1177-1179)ctA>ctG	p.L393L		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	393					hematopoietic progenitor cell differentiation (GO:0002244)|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.L393L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AATGGCTCTTTAGCTGTCTGT	0.348																																						uc003ptl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1177-1179)CTA>CTG		zinc finger and BTB domain containing 24 isoform							172.0	159.0	163.0					6																	109797403		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109797403T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1179A>G	6.37:g.109797403T>C						ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.L337L|ZBTB24_uc010kdt.1_RNA	p.L393L	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	4	1347	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	393			C2H2-type 4.		Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.1179A>G	CCDS34509.1																																																																																				PASS	0.348	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		79	248	79	248	---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147581765	147581765	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:147581765A>T	ENST00000321680.6	+	5	446	c.446A>T	c.(445-447)cAt>cTt	p.H149L	STXBP5_ENST00000367481.3_Missense_Mutation_p.H149L|STXBP5_ENST00000367480.3_Missense_Mutation_p.H149L|STXBP5_ENST00000546097.1_Missense_Mutation_p.H149L|STXBP5_ENST00000179882.6_5'UTR	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	149					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.H149L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACATTTTGCCATCTGCCTTTC	0.358																																						uc003qlz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(445-447)CAT>CTT		syntaxin binding protein 5 (tomosyn) isoform b							93.0	90.0	91.0					6																	147581765		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147581765A>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.446A>T	6.37:g.147581765A>T	ENSP00000321826:p.His149Leu					STXBP5_uc010khz.1_Missense_Mutation_p.H149L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	p.H149L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	5	607	+		Ovarian(120;0.0164)	149			WD 3.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.446A>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545227	0.86022	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.64803	1.65;5.09;1.65;-0.12	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.39514	1.22	0.80722	D	1	D;B	0.76494	0.999;0.184	D;B	0.80764	0.994;0.13	T	0.57711	-0.7764	10	0.09590	T	0.72	.	15.9129	0.79485	1.0:0.0:0.0:0.0	.	149;149	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	L	149	ENSP00000356451:H149L;ENSP00000441479:H149L;ENSP00000321826:H149L;ENSP00000356450:H149L	ENSP00000321826:H149L	H	+	2	0	STXBP5	147623458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	CAT		PASS	0.358	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			165	102	165	102	---	---	---	---
ULBP1	80329	broad.mit.edu	37	6	150289920	150289920	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:150289920A>T	ENST00000229708.3	+	2	306	c.263A>T	c.(262-264)gAa>gTa	p.E88V		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	88	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.E88V(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		AAAACCTGGGAAGAACAAACT	0.413																																						uc003qnp.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(262-264)GAA>GTA		UL16 binding protein 1 precursor							111.0	118.0	116.0					6																	150289920		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150289920A>T	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.263A>T	6.37:g.150289920A>T	ENSP00000229708:p.Glu88Val						p.E88V	NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	2	306	+		Ovarian(120;0.0907)	88			MHC class I alpha-1 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.263A>T	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	a	12.93	2.084766	0.36758	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.00966	5.49;5.49	2.2	0.993	0.19825	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01222	0.0040	M	0.64997	1.995	0.09310	N	1	D	0.63880	0.993	D	0.70716	0.97	T	0.50600	-0.8809	9	0.87932	D	0	.	4.0434	0.09761	0.814:0.0:0.186:0.0	.	88	Q9BZM6	N2DL1_HUMAN	V	88	ENSP00000356314:E88V;ENSP00000229708:E88V	ENSP00000229708:E88V	E	+	2	0	ULBP1	150331613	0.000000	0.05858	0.001000	0.08648	0.210000	0.24377	0.108000	0.15396	0.277000	0.22141	0.254000	0.18369	GAA		PASS	0.413	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			194	339	194	339	---	---	---	---
VIP	7432	broad.mit.edu	37	6	153076434	153076434	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:153076434C>A	ENST00000367244.3	+	4	433	c.261C>A	c.(259-261)acC>acA	p.T87T	VIP_ENST00000367243.3_Silent_p.T87T	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	87					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)	p.T87T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAGTTTTCACCAGTGACTTCA	0.318																																						uc003qpe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)ACC>ACA		vasoactive intestinal peptide isoform 1							61.0	63.0	62.0					6																	153076434		2203	4300	6503	SO:0001819	synonymous_variant	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153076434C>A		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.261C>A	6.37:g.153076434C>A						VIP_uc003qpf.2_Silent_p.T87T|VIP_uc010kjd.2_Silent_p.T87T	p.T87T	NM_003381	NP_003372	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	4	433	+		Ovarian(120;0.0654)	87					Q5TCY8|Q5TCY9|Q96QK3	Silent	SNP	ENST00000367244.3	37	c.261C>A	CCDS5240.1	.	.	.	.	.	.	.	.	.	.	C	8.299	0.819417	0.16607	.	.	ENSG00000146469	ENST00000431366	.	.	.	6.04	3.29	0.37713	.	.	.	.	.	T	0.29491	0.0735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18713	-1.0328	4	.	.	.	.	2.8003	0.05412	0.1292:0.5465:0.1248:0.1995	.	.	.	.	K	37	.	.	Q	+	1	0	VIP	153118127	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.841000	0.27613	0.432000	0.26286	-0.152000	0.13540	CAG		PASS	0.318	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			89	179	89	179	---	---	---	---
SOD2	6648	broad.mit.edu	37	6	160105988	160105988	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:160105988C>A	ENST00000546087.1	-	6	2110	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	SOD2_ENST00000538183.2_Missense_Mutation_p.G141C|SOD2_ENST00000444946.2_Intron|SOD2_ENST00000337404.4_Missense_Mutation_p.G102C|SOD2_ENST00000367055.4_Missense_Mutation_p.G141C|SOD2_ENST00000367054.2_Missense_Mutation_p.G102C			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	141					age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)	p.G141C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CCTTGGACACCAACAGATGCA	0.453																																						uc003qsg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GGT>TGT		manganese superoxide dismutase isoform A							136.0	121.0	126.0					6																	160105988		2203	4300	6503	SO:0001583	missense	6648				age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	g.chr6:160105988C>A	M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.283G>T	6.37:g.160105988C>A	ENSP00000442920:p.Gly95Cys					SOD2_uc003qsh.2_Missense_Mutation_p.G102C|SOD2_uc003qsi.1_Missense_Mutation_p.G141C|SOD2_uc011efu.1_Intron|SOD2_uc011efv.1_Missense_Mutation_p.G102C	p.G141C	NM_001024465	NP_001019636	P04179	SODM_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)	4	575	-		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)	141					B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Missense_Mutation	SNP	ENST00000546087.1	37	c.421G>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.263878	0.80358	.	.	ENSG00000112096	ENST00000367055;ENST00000538183;ENST00000367054;ENST00000546087;ENST00000337404;ENST00000545162;ENST00000535561;ENST00000537657;ENST00000401980	T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.82;0.82;0.77;0.77	5.5	4.63	0.57726	Manganese/iron superoxide dismutase, C-terminal (2);	0.203937	0.51477	D	0.000094	T	0.69700	0.3140	H	0.94345	3.525	0.80722	D	1	P;D;D	0.58268	0.931;0.982;0.97	P;D;P	0.63793	0.867;0.918;0.9	T	0.80627	-0.1298	10	0.87932	D	0	-25.9967	14.9612	0.71158	0.0:0.9305:0.0:0.0695	.	137;102;141	Q7Z7M4;B4DL20;P04179	.;.;SODM_HUMAN	C	141;141;102;95;102;164;164;95;56	ENSP00000356022:G141C;ENSP00000446252:G141C;ENSP00000356021:G102C;ENSP00000442920:G95C;ENSP00000337127:G102C;ENSP00000441362:G164C;ENSP00000445015:G164C;ENSP00000439191:G95C;ENSP00000384196:G56C	ENSP00000337127:G102C	G	-	1	0	SOD2	160025978	1.000000	0.71417	0.072000	0.20136	0.964000	0.63967	5.530000	0.67141	1.466000	0.48025	0.650000	0.86243	GGT		PASS	0.453	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636		6	426	6	426	---	---	---	---
PACRG	135138	broad.mit.edu	37	6	163510295	163510295	+	Silent	SNP	C	C	T	rs375336076		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:163510295C>T	ENST00000337019.3	+	5	692	c.468C>T	c.(466-468)gcC>gcT	p.A156A	PACRG_ENST00000366889.2_Silent_p.A156A|PACRG_ENST00000366888.2_Silent_p.A156A	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	156					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.A156A(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATATAGATGCCTTGAACCTCC	0.433																																						uc003qua.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)GCC>GCT		parkin co-regulated gene protein isoform 1		C	,,	0,4406		0,0,2203	121.0	107.0	112.0		468,468,468	-0.6	1.0	6		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PACRG	NM_001080378.1,NM_001080379.1,NM_152410.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	156/258,156/258,156/297	163510295	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	135138							g.chr6:163510295C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.468C>T	6.37:g.163510295C>T						PACRG_uc003qub.2_Silent_p.A156A|PACRG_uc003quc.2_Silent_p.A156A	p.A156A	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	692	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	156					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	37	c.468C>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.079|8.079	0.772036|0.772036	0.16051|0.16051	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000542936	.|.	.|.	.|.	5.63|5.63	-0.605|-0.605	0.11623|0.11623	.|.	.|.	.|.	.|.	.|.	T|T	0.22898|0.22898	0.0553|0.0553	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25433|0.25433	-1.0132|-1.0132	4|4	.|.	.|.	.|.	-22.1227|-22.1227	1.0388|1.0388	0.01554|0.01554	0.1644:0.3697:0.1919:0.2741|0.1644:0.3697:0.1919:0.2741	.|.	.|.	.|.	.|.	F|L	72|14	.|.	.|.	L|P	+|+	1|2	0|0	PACRG|PACRG	163430285|163430285	0.995000|0.995000	0.38212|0.38212	0.969000|0.969000	0.41365|0.41365	0.709000|0.709000	0.40893|0.40893	0.409000|0.409000	0.21082|0.21082	-0.021000|-0.021000	0.14009|0.14009	0.591000|0.591000	0.81541|0.81541	CTT|CCT		PASS	0.433	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		248	297	248	297	---	---	---	---
T	6862	broad.mit.edu	37	6	166580194	166580194	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:166580194C>T	ENST00000296946.2	-	3	825	c.357G>A	c.(355-357)gcG>gcA	p.A119A	T_ENST00000366871.3_Silent_p.A119A	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	119					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A119A(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGCAGCTGGGCGCCTGCGGCT	0.637									Chordoma, Familial Clustering of																													uc003quu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(355-357)GCG>GCA		transcription factor T							47.0	52.0	50.0					6																	166580194		2203	4300	6503	SO:0001819	synonymous_variant	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166580194C>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.357G>A	6.37:g.166580194C>T						T_uc003qut.1_Silent_p.A119A|T_uc003quv.1_Silent_p.A119A	p.A119A	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	3	850	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	119			T-box.		E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.357G>A	CCDS5290.1																																																																																				PASS	0.637	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		33	84	33	84	---	---	---	---
GPR31	2853	broad.mit.edu	37	6	167570777	167570777	+	Silent	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr6:167570777G>C	ENST00000366834.1	-	1	1040	c.543C>G	c.(541-543)ctC>ctG	p.L181L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	181					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L181L(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GAAGGCAGGAGAGTGCTTCCT	0.577																																						uc011egq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(541-543)CTC>CTG		G protein-coupled receptor 31							94.0	102.0	99.0					6																	167570777		2203	4300	6503	SO:0001819	synonymous_variant	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167570777G>C	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.543C>G	6.37:g.167570777G>C							p.L181L	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	543	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	181			Helical; Name=5; (Potential).		B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	ENST00000366834.1	37	c.543C>G	CCDS5299.1																																																																																				PASS	0.577	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		285	320	285	320	---	---	---	---
IQCE	23288	broad.mit.edu	37	7	2617950	2617950	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:2617950G>T	ENST00000402050.2	+	7	724	c.540G>T	c.(538-540)agG>agT	p.R180S	IQCE_ENST00000325979.7_Missense_Mutation_p.R115S|IQCE_ENST00000404984.1_Missense_Mutation_p.R129S|IQCE_ENST00000438376.2_Missense_Mutation_p.R164S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	180						mitochondrion (GO:0005739)		p.R180S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AAAACAGCAGGAAGGACCGGC	0.617																																						uc003smo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)AGG>AGT		IQ motif containing E isoform 1							60.0	70.0	66.0					7																	2617950		2090	4219	6309	SO:0001583	missense	23288							g.chr7:2617950G>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.540G>T	7.37:g.2617950G>T	ENSP00000385597:p.Arg180Ser					IQCE_uc010ksm.1_Missense_Mutation_p.R180S|IQCE_uc003sml.1_Missense_Mutation_p.R180S|IQCE_uc011jvy.1_Missense_Mutation_p.R164S|IQCE_uc011jvz.1_Missense_Mutation_p.R115S|IQCE_uc003smk.3_Missense_Mutation_p.R164S|IQCE_uc003smn.3_Missense_Mutation_p.R115S	p.R180S	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	7	724	+		Ovarian(82;0.0112)	180			Potential.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.540G>T	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231318	0.79688	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	5.5	-1.77	0.07982	.	0.047987	0.85682	D	0.000000	T	0.19485	0.0468	M	0.74258	2.255	0.33023	D	0.529052	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	0.91635	0.987;0.993;0.999;0.987;0.993;0.996	T	0.11179	-1.0598	10	0.33141	T	0.24	-35.1412	6.2467	0.20823	0.564:0.0:0.3081:0.1279	.	115;164;115;180;180;164	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	S	180;129;216;164;115;115;115	ENSP00000385597:R180S;ENSP00000385945:R129S;ENSP00000404643:R216S;ENSP00000396178:R164S;ENSP00000313772:R115S;ENSP00000413570:R115S	ENSP00000313772:R115S	R	+	3	2	IQCE	2584476	0.319000	0.24607	0.992000	0.48379	0.989000	0.77384	-0.738000	0.04871	-0.236000	0.09753	0.563000	0.77884	AGG		PASS	0.617	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		27	143	27	143	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4856057	4856057	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:4856057G>T	ENST00000399583.3	-	8	1955	c.1768C>A	c.(1768-1770)Cca>Aca	p.P590T	RADIL_ENST00000538469.1_Missense_Mutation_p.P350T|RADIL_ENST00000536091.1_Missense_Mutation_p.A536D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	590	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.P590T(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTCTGGAATGGCGGGCACTCC	0.682																																						uc003snj.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1768-1770)CCA>ACA		Rap GTPase interactor							10.0	15.0	14.0					7																	4856057		1952	4095	6047	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4856057G>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1768C>A	7.37:g.4856057G>T	ENSP00000382492:p.Pro590Thr					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.P95T|RADIL_uc011jwc.1_Missense_Mutation_p.P350T|RADIL_uc011jwd.1_RNA	p.P590T	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	8	1941	-		Ovarian(82;0.0175)	590			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1768C>A	CCDS43544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.92|17.92	3.507922|3.507922	0.64410|0.64410	.|.	.|.	ENSG00000157927|ENSG00000157927	ENST00000536091|ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T|T;T	0.25579|0.10573	1.79|2.86;2.86	5.39|5.39	5.39|5.39	0.77823|0.77823	.|Dilute (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37758|0.37758	0.1015|0.1015	M|M	0.82056|0.82056	2.57|2.57	0.44816|0.44816	D|D	0.997821|0.997821	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.19289|0.19289	-1.0310|-1.0310	7|10	0.87932|0.72032	D|D	0|0.01	-23.7422|-23.7422	18.1417|18.1417	0.89642|0.89642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|590	.|Q96JH8	.|RADIL_HUMAN	D|T	536|590;561;324;350	ENSP00000442533:A536D|ENSP00000382492:P590T;ENSP00000442966:P350T	ENSP00000442533:A536D|ENSP00000320946:P561T	A|P	-|-	2|1	0|0	RADIL|RADIL	4822583|4822583	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.003000|0.003000	0.03518|0.03518	9.255000|9.255000	0.95524|0.95524	2.537000|2.537000	0.85549|0.85549	0.462000|0.462000	0.41574|0.41574	GCC|CCA		PASS	0.682	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		15	8	15	8	---	---	---	---
ZNRF2	223082	broad.mit.edu	37	7	30363339	30363339	+	Missense_Mutation	SNP	G	G	T	rs142290977		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:30363339G>T	ENST00000323037.4	+	2	1602	c.551G>T	c.(550-552)cGa>cTa	p.R184L		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	184						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R184L(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ACAAAGCCACGAATAACCTAT	0.269																																						uc003tat.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CGA>CTA		zinc finger/RING finger 2							111.0	115.0	114.0					7																	30363339		2203	4299	6502	SO:0001583	missense	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30363339G>T	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.551G>T	7.37:g.30363339G>T	ENSP00000323879:p.Arg184Leu						p.R184L	NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN			2	1602	+			184						Missense_Mutation	SNP	ENST00000323037.4	37	c.551G>T	CCDS5426.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812752	0.90707	.	.	ENSG00000180233	ENST00000323037;ENST00000319243	T	0.54279	0.58	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000001	T	0.63414	0.2509	M	0.64997	1.995	0.58432	D	0.999999	P	0.47034	0.889	P	0.51229	0.663	T	0.64635	-0.6361	10	0.59425	D	0.04	-12.6276	17.4851	0.87685	0.0:0.0:1.0:0.0	.	184	Q8NHG8	ZNRF2_HUMAN	L	184;122	ENSP00000323879:R184L	ENSP00000326497:R122L	R	+	2	0	ZNRF2	30329864	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.599000	0.90856	2.734000	0.93682	0.585000	0.79938	CGA		PASS	0.269	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		58	19	58	19	---	---	---	---
CRCP	27297	broad.mit.edu	37	7	65599298	65599298	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:65599298G>A	ENST00000395326.3	+	4	534	c.176G>A	c.(175-177)aGg>aAg	p.R59K	CRCP_ENST00000415001.2_Missense_Mutation_p.R26K|CRCP_ENST00000398684.2_Intron|CRCP_ENST00000338592.5_Missense_Mutation_p.R26K|RP5-1132H15.1_ENST00000435524.2_RNA|AC068533.7_ENST00000450043.1_Silent_p.Q241Q|CRCP_ENST00000431089.2_Missense_Mutation_p.R52K	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	59					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)	p.R59K(2)|p.R52K(1)		cervix(1)|kidney(1)|lung(4)	6						ACACCATGCAGGCACCAGAGT	0.358																																						uc003tus.2																			3	Substitution - Missense(3)		lung(3)		0						c.(175-177)AGG>AAG		calcitonin gene-related peptide-receptor							108.0	113.0	111.0					7																	65599298		2203	4300	6503	SO:0001583	missense	27297				acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding	g.chr7:65599298G>A	AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.176G>A	7.37:g.65599298G>A	ENSP00000378736:p.Arg59Lys					CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.R52K|CRCP_uc003tut.2_Missense_Mutation_p.R26K|CRCP_uc003tuu.2_Intron	p.R59K	NM_014478	NP_055293	O75575	RPC9_HUMAN			4	321	+			59					A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Missense_Mutation	SNP	ENST00000395326.3	37	c.176G>A	CCDS5532.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062497	0.36373	.	.	ENSG00000241258	ENST00000395326;ENST00000431089;ENST00000338592;ENST00000415001	.	.	.	4.14	2.27	0.28462	HRDC-like (1);RNA polymerase II, Rpb4, core (1);	0.543552	0.23108	N	0.051821	T	0.11580	0.0282	N	0.03050	-0.425	0.24952	N	0.991781	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.35450	-0.9788	9	0.02654	T	1	-4.6437	7.1626	0.25672	0.2209:0.0:0.7791:0.0	.	52;26;59	B4E198;O75575-2;O75575	.;.;RPC9_HUMAN	K	59;52;26;26	.	ENSP00000340044:R26K	R	+	2	0	CRCP	65236733	1.000000	0.71417	0.840000	0.33206	0.989000	0.77384	2.240000	0.43088	0.304000	0.22809	0.650000	0.86243	AGG		PASS	0.358	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		100	349	100	349	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71488709	71488709	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:71488709G>T	ENST00000329008.5	-	4	606	c.308C>A	c.(307-309)cCc>cAc	p.P103H	CALN1_ENST00000431984.1_Missense_Mutation_p.P103H|CALN1_ENST00000405452.2_Missense_Mutation_p.P103H|CALN1_ENST00000395276.2_Missense_Mutation_p.P103H|CALN1_ENST00000412588.1_Missense_Mutation_p.P145H|CALN1_ENST00000395275.2_Missense_Mutation_p.P145H	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	103	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.P103H(1)|p.P145H(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CACCAGTTTGGGGCCAAGAAT	0.428																																						uc003twa.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(307-309)CCC>CAC		calneuron 1 isoform 2							136.0	118.0	124.0					7																	71488709		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71488709G>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.308C>A	7.37:g.71488709G>T	ENSP00000332498:p.Pro103His					CALN1_uc003twb.3_Missense_Mutation_p.P145H|CALN1_uc003twc.3_Missense_Mutation_p.P103H	p.P103H	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			4	835	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	103			EF-hand 2.|Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.308C>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807195	0.90623	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.74632	0.01;0.01;0.01;0.01;0.01;0.01;-0.86	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	L	0.31926	0.97	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81482	-0.0913	10	0.62326	D	0.03	-3.3177	18.0718	0.89410	0.0:0.0:1.0:0.0	.	103;103	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	H	103;145;103;103;145;103;103	ENSP00000332498:P103H;ENSP00000378690:P145H;ENSP00000378691:P103H;ENSP00000410704:P103H;ENSP00000391882:P145H;ENSP00000384354:P103H;ENSP00000411806:P103H	ENSP00000332498:P103H	P	-	2	0	CALN1	71126645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.974000	0.93433	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.428	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		186	78	186	78	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94053664	94053664	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:94053664C>T	ENST00000297268.6	+	41	3053	c.2582C>T	c.(2581-2583)cCa>cTa	p.P861L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	861					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P861L(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGCACTCCAGGTCCTCAG	0.498										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2581-2583)CCA>CTA		alpha 2 type I collagen precursor	Collagenase(DB00048)						141.0	130.0	134.0					7																	94053664		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94053664C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2582C>T	7.37:g.94053664C>T	ENSP00000297268:p.Pro861Leu	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	p.P861L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		41	3053	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		861					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2582C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837209	0.71373	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.98684	-5.07	5.72	5.72	0.89469	.	0.304925	0.36338	N	0.002658	D	0.98175	0.9397	M	0.80847	2.515	0.80722	D	1	B	0.27853	0.191	B	0.27076	0.076	D	0.96747	0.9551	10	0.87932	D	0	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	861	P08123	CO1A2_HUMAN	L	861;862	ENSP00000297268:P861L	ENSP00000297268:P861L	P	+	2	0	COL1A2	93891600	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	7.803000	0.85983	2.873000	0.98535	0.563000	0.77884	CCA		PASS	0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		258	135	258	135	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686302	100686302	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:100686302A>T	ENST00000306151.4	+	3	11669	c.11605A>T	c.(11605-11607)Acc>Tcc	p.T3869S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3869					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3869S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATTTCAATTACCAGTGAAAG	0.483																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11605-11607)ACC>TCC		mucin 17 precursor							148.0	135.0	139.0					7																	100686302		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686302A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11605A>T	7.37:g.100686302A>T	ENSP00000302716:p.Thr3869Ser					MUC17_uc010lho.1_RNA	p.T3869S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11658	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3869			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11605A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	5.627	0.300392	0.10678	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.558	-1.12	0.09808	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	P	0.50819	0.939	P	0.46479	0.518	T	0.18272	-1.0342	8	0.02654	T	1	.	.	.	.	.	3869	Q685J3	MUC17_HUMAN	S	3869	ENSP00000302716:T3869S	ENSP00000302716:T3869S	T	+	1	0	MUC17	100473022	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.221000	0.09202	-1.237000	0.02539	0.158000	0.16466	ACC		PASS	0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		73	307	73	307	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103270438	103270438	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:103270438C>G	ENST00000428762.1	-	20	2810	c.2651G>C	c.(2650-2652)gGa>gCa	p.G884A	RELN_ENST00000343529.5_Missense_Mutation_p.G884A|RELN_ENST00000424685.2_Missense_Mutation_p.G884A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	884					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.G884A(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)		AAGGTAGAATCCCAGAGACTG	0.403																																					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.(2650-2652)GGA>GCA		reelin isoform a							127.0	115.0	119.0					7																	103270438		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.chr7:103270438C>G		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.2651G>C	7.37:g.103270438C>G	ENSP00000392423:p.Gly884Ala					RELN_uc010liz.2_Missense_Mutation_p.G884A	p.G884A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	20	2811	-			884					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2651G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671049	0.88348	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21543	2.0;2.05;2.02	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	L	0.36672	1.1	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	T	0.02484	-1.1152	10	0.45353	T	0.12	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	884;884	P78509-2;P78509	.;RELN_HUMAN	A	884	ENSP00000392423:G884A;ENSP00000345694:G884A;ENSP00000388446:G884A	ENSP00000345694:G884A	G	-	2	0	RELN	103057674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.030000	0.76484	2.835000	0.97688	0.591000	0.81541	GGA		PASS	0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		205	101	205	101	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131831444	131831444	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:131831444T>A	ENST00000359827.3	-	28	5842	c.4880A>T	c.(4879-4881)tAc>tTc	p.Y1627F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y1627F			Q9HCM2	PLXA4_HUMAN	plexin A4	1627					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.Y1627F(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTGCCCGTGTACCGGATCAT	0.577																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4879-4881)TAC>TTC		plexin A4 isoform 1							113.0	125.0	121.0					7																	131831444		2176	4291	6467	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131831444T>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4880A>T	7.37:g.131831444T>A	ENSP00000352882:p.Tyr1627Phe					PLXNA4_uc003vqz.3_5'Flank	p.Y1627F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			28	5109	-			1627			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4880A>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007112	0.75046	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11495	2.77;2.77	5.53	5.53	0.82687	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	L	0.34521	1.04	0.80722	D	1	D	0.57899	0.981	D	0.62955	0.909	T	0.07139	-1.0788	10	0.10111	T	0.7	.	15.6745	0.77303	0.0:0.0:0.0:1.0	.	1627	Q9HCM2	PLXA4_HUMAN	F	1627	ENSP00000323194:Y1627F;ENSP00000352882:Y1627F	ENSP00000323194:Y1627F	Y	-	2	0	PLXNA4	131481984	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.075000	0.71261	2.109000	0.64355	0.459000	0.35465	TAC		PASS	0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		73	263	73	263	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700215	136700215	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:136700215C>G	ENST00000445907.2	+	3	1131	c.603C>G	c.(601-603)atC>atG	p.I201M	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.I201M|CHRM2_ENST00000320658.5_Missense_Mutation_p.I201M|CHRM2_ENST00000397608.3_Missense_Mutation_p.I201M|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.I201M|CHRM2_ENST00000401861.1_Missense_Mutation_p.I201M|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	201					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	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.I201M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAGTGATCATCATGACTGTGC	0.483																																						uc003vtf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(601-603)ATC>ATG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						68.0	61.0	63.0					7																	136700215		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700215C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.603C>G	7.37:g.136700215C>G	ENSP00000399745:p.Ile201Met					CHRM2_uc003vtg.1_Missense_Mutation_p.I201M|CHRM2_uc003vtj.1_Missense_Mutation_p.I201M|CHRM2_uc003vtk.1_Missense_Mutation_p.I201M|CHRM2_uc003vtl.1_Missense_Mutation_p.I201M|CHRM2_uc003vtm.1_Missense_Mutation_p.I201M|CHRM2_uc003vti.1_Missense_Mutation_p.I201M|CHRM2_uc003vto.1_Missense_Mutation_p.I201M|CHRM2_uc003vtn.1_Missense_Mutation_p.I201M|uc003vtp.1_Intron	p.I201M	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1226	+			201			Helical; Name=5; (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.603C>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612782	0.66672	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.85859	2.78	0.80722	D	1	D	0.64830	0.994	D	0.68765	0.96	T	0.74532	-0.3634	10	0.87932	D	0	-6.6964	19.4315	0.94772	0.0:1.0:0.0:0.0	.	201	P08172	ACM2_HUMAN	M	201	ENSP00000399745:I201M;ENSP00000415386:I201M;ENSP00000319984:I201M;ENSP00000380733:I201M;ENSP00000384937:I201M;ENSP00000384401:I201M	ENSP00000319984:I201M	I	+	3	3	CHRM2	136350755	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.097000	0.41748	2.600000	0.87896	0.655000	0.94253	ATC		PASS	0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			41	149	41	149	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138522834	138522834	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:138522834C>T	ENST00000422774.1	-	20	5718	c.5670G>A	c.(5668-5670)gaG>gaA	p.E1890E	KIAA1549_ENST00000242365.4_Silent_p.E1824E|KIAA1549_ENST00000440172.1_Silent_p.E1874E|TMEM213_ENST00000413208.1_3'UTR			Q9HCM3	K1549_HUMAN	KIAA1549	1890						integral component of membrane (GO:0016021)		p.E1890E(1)|p.E1824E(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGCTGAGGGCTCCCTGCCTG	0.587			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(5668-5670)GAG>GAA		hypothetical protein LOC57670 isoform 1							49.0	47.0	48.0					7																	138522834		1948	4134	6082	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138522834C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5670G>A	7.37:g.138522834C>T						KIAA1549_uc011kqi.1_Silent_p.E658E|KIAA1549_uc003vuk.3_Silent_p.E1824E|KIAA1549_uc011kqj.1_Silent_p.E1874E|KIAA1549_uc011kqk.1_Silent_p.E674E	p.E1890E	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			20	5719	-			1890					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.5670G>A	CCDS56513.1																																																																																				PASS	0.587	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			16	6	16	6	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143096796	143096796	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:143096796C>T	ENST00000275815.3	-	4	869	c.783G>A	c.(781-783)cgG>cgA	p.R261R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	261	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|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 cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R261R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CACAGTGGCACCGTCCTACAG	0.657																																						uc003wcz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|breast(1)	5						c.(781-783)CGG>CGA		ephrin receptor EphA1 precursor							40.0	45.0	43.0					7																	143096796		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096796C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.783G>A	7.37:g.143096796C>T							p.R261R	NM_005232	NP_005223	P21709	EPHA1_HUMAN			4	870	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	261			Extracellular (Potential).|Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.783G>A	CCDS5884.1																																																																																				PASS	0.657	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			17	55	17	55	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143826379	143826379	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:143826379G>C	ENST00000408899.2	+	1	229	c.174G>C	c.(172-174)atG>atC	p.M58I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M58I(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ACACACCCATGTACTTCTTCC	0.478																																						uc011kua.1																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)ATG>ATC		olfactory receptor, family 2, subfamily A,							225.0	224.0	224.0					7																	143826379		2133	4276	6409	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826379G>C		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.174G>C	7.37:g.143826379G>C	ENSP00000386137:p.Met58Ile						p.M58I	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	174	+	Melanoma(164;0.0783)		58			Helical; Name=2; (Potential).		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.174G>C	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473864	0.43942	.	.	ENSG00000221938	ENST00000408899	T	0.09350	2.99	4.18	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30696	0.0773	H	0.97707	4.06	0.36448	D	0.865908	B	0.28082	0.2	B	0.36030	0.216	T	0.42515	-0.9447	9	0.87932	D	0	-32.7291	10.1759	0.42937	0.1001:0.0:0.8999:0.0	.	58	Q96R47	O2A14_HUMAN	I	58	ENSP00000386137:M58I	ENSP00000386137:M58I	M	+	3	0	OR2A14	143457312	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.538000	0.82048	1.087000	0.41251	0.561000	0.74099	ATG		PASS	0.478	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			471	227	471	227	---	---	---	---
GIMAP4	55303	broad.mit.edu	37	7	150269350	150269350	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr7:150269350C>T	ENST00000255945.2	+	3	367	c.192C>T	c.(190-192)tcC>tcT	p.S64S	GIMAP4_ENST00000461940.1_Silent_p.S78S|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	64	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.S64S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCAAAATCCATTACCAAGA	0.473																																						uc003whl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(190-192)TCC>TCT		GTPase, IMAP family member 4							98.0	87.0	91.0					7																	150269350		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269350C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.192C>T	7.37:g.150269350C>T						GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Silent_p.S78S	p.S64S	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	274	+			64						Silent	SNP	ENST00000255945.2	37	c.192C>T	CCDS5904.1																																																																																				PASS	0.473	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		30	11	30	11	---	---	---	---
SPAG11A	653423	broad.mit.edu	37	8	7721034	7721034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:7721034C>T	ENST00000326558.5	+	4	327	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	SPAG11A_ENST00000351436.4_Nonsense_Mutation_p.Q76*	NM_001081552.2	NP_001075021.2	Q6PDA7	SG11A_HUMAN	sperm associated antigen 11A	0						extracellular region (GO:0005576)		p.Q102*(1)		central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GACAGGCCAGCAGCACAGACA	0.527																																						uc003wsa.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(358-360)CAG>TAG		sperm associated antigen 11B isoform H							36.0	34.0	35.0					8																	7721034		2184	4245	6429	SO:0001587	stop_gained	653423					extracellular region		g.chr8:7721034C>T		CCDS43700.1	8p23.1	2009-09-12	2007-03-15		ENSG00000178287	ENSG00000178287			33342	protein-coding gene	gene with protein product	"""epididymal protein 2A"""						Standard	NM_001081552		Approved	HE2, EDDM2A		Q6PDA7	OTTHUMG00000162440	ENST00000326558.5:c.304C>T	8.37:g.7721034C>T	ENSP00000316012:p.Gln102*					SPAG11A_uc003wrz.2_Nonsense_Mutation_p.Q102*|SPAG11A_uc003wsb.2_RNA	p.Q120*	NM_058202	NP_478109	Q6PDA7	SG11A_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	393	+			Error:Variant_position_missing_in_Q6PDA7_after_alignment					A6NIY0|E9PAK7	Nonsense_Mutation	SNP	ENST00000326558.5	37	c.358C>T	CCDS43700.1	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267730	0.10294	.	.	ENSG00000178287	ENST00000326558;ENST00000351436	.	.	.	1.41	-0.743	0.11105	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.8614	0.03189	0.3234:0.4486:0.0:0.228	.	.	.	.	X	102;76	.	ENSP00000316012:Q102X	Q	+	1	0	SPAG11A	7758444	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.043000	0.12043	-0.253000	0.09514	0.511000	0.50034	CAG		PASS	0.527	SPAG11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368921.2	NM_001081552		23	156	23	156	---	---	---	---
HR	55806	broad.mit.edu	37	8	21978727	21978727	+	Missense_Mutation	SNP	C	C	A	rs139027208	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:21978727C>A	ENST00000381418.4	-	10	3698	c.2218G>T	c.(2218-2220)Gct>Tct	p.A740S	HR_ENST00000312841.8_Missense_Mutation_p.A740S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	740					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A740S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGTCTCAGCGGAATCGGGG	0.642																																						uc003xas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2218-2220)GCT>TCT		hairless protein isoform a							66.0	79.0	74.0					8																	21978727		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21978727C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2218G>T	8.37:g.21978727C>A	ENSP00000370826:p.Ala740Ser					HR_uc003xat.2_Missense_Mutation_p.A740S	p.A740S	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	10	2883	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	740					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2218G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582350	0.28180	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71222	-0.55;-0.55	5.29	2.83	0.33086	.	0.105611	0.42294	D	0.000736	T	0.43678	0.1258	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.0	B;B	0.19391	0.025;0.003	T	0.25882	-1.0119	10	0.08837	T	0.75	-0.9924	7.5169	0.27606	0.0:0.1759:0.0:0.8241	.	740;740	O43593-2;O43593	.;HAIR_HUMAN	S	740	ENSP00000370826:A740S;ENSP00000326765:A740S	ENSP00000326765:A740S	A	-	1	0	HR	22034672	0.041000	0.20044	0.210000	0.23637	0.639000	0.38242	0.045000	0.14013	0.371000	0.24564	-0.415000	0.06103	GCT		PASS	0.642	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			80	140	80	140	---	---	---	---
DCTN6	10671	broad.mit.edu	37	8	30040645	30040645	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:30040645C>T	ENST00000221114.3	+	7	616	c.529C>T	c.(529-531)Cta>Tta	p.L177L	RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	177					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)		p.L177L(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TTACCACCACCTAAAGAAGAC	0.378																																						uc003xhy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(529-531)CTA>TTA		dynactin 6							110.0	99.0	103.0					8																	30040645		2203	4300	6503	SO:0001819	synonymous_variant	10671					centrosome	transferase activity	g.chr8:30040645C>T	D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.529C>T	8.37:g.30040645C>T							p.L177L	NM_006571	NP_006562	O00399	DCTN6_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)	7	616	+			177					B2RAC1	Silent	SNP	ENST00000221114.3	37	c.529C>T	CCDS6076.1																																																																																				PASS	0.378	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375815.2	NM_006571		62	25	62	25	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763722	77763722	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:77763722C>A	ENST00000521891.2	+	10	5013	c.4565C>A	c.(4564-4566)cCt>cAt	p.P1522H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1477H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1477H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1496H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1522H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGACCTTACCTTTTAGAAAA	0.423										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4429-4431)CCT>CAT		zinc finger homeodomain 4							50.0	48.0	48.0					8																	77763722		1894	4129	6023	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763722C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4565C>A	8.37:g.77763722C>A	ENSP00000430497:p.Pro1522His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P1522H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1477H	p.P1477H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4817	+			1477					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4430C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343732	0.41498	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.72;0.69;0.68	5.05	5.05	0.67936	.	0.000000	0.44285	U	0.000473	T	0.64886	0.2639	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.98;0.991;0.991	T	0.66858	-0.5817	10	0.72032	D	0.01	.	18.5796	0.91166	0.0:1.0:0.0:0.0	.	1477;1477;1522	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1522;1522;1477;1477;1496	ENSP00000430497:P1522H;ENSP00000399605:P1477H;ENSP00000050961:P1477H;ENSP00000430848:P1496H	ENSP00000050961:P1477H	P	+	2	0	ZFHX4	77926277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.932000	0.70121	2.629000	0.89072	0.555000	0.69702	CCT		PASS	0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		36	9	36	9	---	---	---	---
PEX2	5828	broad.mit.edu	37	8	77895774	77895774	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:77895774T>A	ENST00000419564.2	-	4	1105	c.641A>T	c.(640-642)cAg>cTg	p.Q214L	PEX2_ENST00000357039.4_Missense_Mutation_p.Q214L|PEX2_ENST00000520103.1_Missense_Mutation_p.Q214L|PEX2_ENST00000522527.1_Missense_Mutation_p.Q214L	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	214					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)	p.Q214L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TTTCAACTTCTGGACATTGAT	0.398																																						uc003yax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)CAG>CTG		peroxin 2							100.0	98.0	99.0					8																	77895774		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895774T>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.641A>T	8.37:g.77895774T>A	ENSP00000400984:p.Gln214Leu					PEX2_uc003yay.2_Missense_Mutation_p.Q214L|PEX2_uc003yaz.2_Missense_Mutation_p.Q214L	p.Q214L	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	1099	-			214					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.641A>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955938	0.73902	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.24	5.24	0.73138	Pex, N-terminal (1);	0.118924	0.56097	D	0.000028	T	0.80914	0.4715	L	0.60455	1.87	0.54753	D	0.999988	P	0.43542	0.81	P	0.45946	0.498	T	0.79281	-0.1868	10	0.29301	T	0.29	-14.7945	15.2995	0.73936	0.0:0.0:0.0:1.0	.	214	P28328	PEX2_HUMAN	L	214	ENSP00000349543:Q214L;ENSP00000400984:Q214L;ENSP00000428590:Q214L;ENSP00000428638:Q214L	ENSP00000349543:Q214L	Q	-	2	0	PEX2	78058329	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.423000	0.52756	2.206000	0.71126	0.455000	0.32223	CAG		PASS	0.398	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		172	25	172	25	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87588225	87588225	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:87588225G>T	ENST00000320005.5	-	18	2284	c.2237C>A	c.(2236-2238)cCa>cAa	p.P746Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	746					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P746Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTCTCTTCTGGCTCTCTTCC	0.373																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2236-2238)CCA>CAA		cyclic nucleotide gated channel beta 3							240.0	241.0	241.0					8																	87588225		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588225G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2237C>A	8.37:g.87588225G>T	ENSP00000316605:p.Pro746Gln					CNGB3_uc010maj.2_Missense_Mutation_p.P603Q	p.P746Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			18	2283	-			746			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.2237C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681703	0.14907	.	.	ENSG00000170289	ENST00000320005	T	0.61040	0.14	5.06	2.01	0.26516	.	0.851957	0.10030	N	0.724913	T	0.45276	0.1334	L	0.27053	0.805	0.09310	N	0.999996	P;P	0.39157	0.662;0.531	B;B	0.42422	0.387;0.216	T	0.30327	-0.9982	10	0.38643	T	0.18	.	6.0625	0.19846	0.1537:0.0:0.6922:0.1541	.	741;746	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	746	ENSP00000316605:P746Q	ENSP00000316605:P746Q	P	-	2	0	CNGB3	87657341	0.289000	0.24334	0.375000	0.26029	0.198000	0.23893	0.419000	0.21247	0.610000	0.30035	0.467000	0.42956	CCA		PASS	0.373	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		95	38	95	38	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95897363	95897363	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:95897363C>A	ENST00000520509.1	-	9	1015	c.763G>T	c.(763-765)Gct>Tct	p.A255S	RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000308108.4_Missense_Mutation_p.A255S|CCNE2_ENST00000396133.3_Missense_Mutation_p.A255S			O96020	CCNE2_HUMAN	cyclin E2	255					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.A255S(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TCTTTAAGAGCATCAACTTGG	0.333																																						uc003yhc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)GCT>TCT		cyclin E2							80.0	83.0	82.0					8																	95897363		2203	4299	6502	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95897363C>A	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.763G>T	8.37:g.95897363C>A	ENSP00000429089:p.Ala255Ser					CCNE2_uc003yhd.2_Missense_Mutation_p.A255S	p.A255S	NM_057749	NP_477097	O96020	CCNE2_HUMAN			9	872	-	Breast(36;8.75e-07)		255					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.763G>T	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.720|6.720	0.501613|0.501613	0.12822|0.12822	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133|ENST00000524224	T;T;T|.	0.21031|.	2.03;2.03;2.03|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Cyclin, C-terminal (1);Cyclin-like (1);|.	0.148413|.	0.64402|.	D|.	0.000010|.	T|T	0.42630|0.42630	0.1211|0.1211	N|N	0.12961|0.12961	0.28|0.28	0.46167|0.46167	D|D	0.998901|0.998901	B;B|.	0.29253|.	0.044;0.239|.	B;B|.	0.37387|.	0.017;0.248|.	T|T	0.30736|0.30736	-0.9968|-0.9968	10|5	0.07175|.	T|.	0.84|.	.|.	14.0583|14.0583	0.64784|0.64784	0.1508:0.8492:0.0:0.0|0.1508:0.8492:0.0:0.0	.|.	255;255|.	Q8WUE3;O96020|.	.;CCNE2_HUMAN|.	S|I	255;255;147;255|118	ENSP00000429089:A255S;ENSP00000309181:A255S;ENSP00000379437:A255S|.	ENSP00000309181:A255S|.	A|M	-|-	1|3	0|0	CCNE2|CCNE2	95966539|95966539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.935000|0.935000	0.28924|0.28924	2.523000|2.523000	0.85059|0.85059	0.650000|0.650000	0.86243|0.86243	GCT|ATG		PASS	0.333	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		4	140	4	140	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144941086	144941086	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:144941086C>T	ENST00000525985.1	-	2	6407	c.6336G>A	c.(6334-6336)gtG>gtA	p.V2112V				P58107	EPIPL_HUMAN	epiplakin 1	2112						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2112V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAACCTTCCCACTGTGATTT	0.547																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(6334-6336)GTG>GTA		epiplakin 1							155.0	165.0	161.0					8																	144941086		2103	4227	6330	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941086C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6336G>A	8.37:g.144941086C>T							p.V2112V	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6349	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2112					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6336G>A																																																																																					PASS	0.547	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		153	404	153	404	---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145108014	145108014	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:145108014C>T	ENST00000426825.1	-	21	2971	c.2890G>A	c.(2890-2892)Gtg>Atg	p.V964M	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	964					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.V964M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTCTCGCACGGCCAGCTCA	0.682																																						uc003zar.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2890-2892)GTG>ATG		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						35.0	39.0	37.0					8																	145108014		2170	4259	6429	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145108014C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2890G>A	8.37:g.145108014C>T	ENSP00000475943:p.Val964Met						p.V964M	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		21	2972	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		964					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2890G>A		.	.	.	.	.	.	.	.	.	.	C	6.709	0.499459	0.12762	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	.	.	.	0.51482	D	0.999923	D	0.89917	1.0	D	0.97110	1.0	D	0.84175	0.0436	7	0.87932	D	0	.	15.3876	0.74714	0.0:1.0:0.0:0.0	.	964	O14841	OPLA_HUMAN	M	964	.	ENSP00000412071:V964M	V	-	1	0	OPLAH	145180002	1.000000	0.71417	0.935000	0.37517	0.013000	0.08279	6.369000	0.73109	2.222000	0.72286	0.448000	0.29417	GTG		PASS	0.682	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		3	13	3	13	---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990075	990075	+	Silent	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr9:990075G>C	ENST00000190165.2	+	2	527	c.489G>C	c.(487-489)tcG>tcC	p.S163S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	163					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S26S(1)|p.S163S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ACGGCAAGTCGGCAGACAATA	0.493																																						uc003zgw.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(487-489)TCG>TCC		doublesex and mab-3 related transcription factor							60.0	65.0	63.0					9																	990075		2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990075G>C	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.489G>C	9.37:g.990075G>C							p.S163S	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	527	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	163					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.489G>C	CCDS6443.1																																																																																				PASS	0.493	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		131	9	131	9	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842532	14842532	+	Missense_Mutation	SNP	C	C	T	rs202115210	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr9:14842532C>T	ENST00000380880.3	-	9	2303	c.1520G>A	c.(1519-1521)cGt>cAt	p.R507H	FREM1_ENST00000380881.4_Missense_Mutation_p.R508H|FREM1_ENST00000422223.2_Missense_Mutation_p.R507H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	507					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.R508H(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)		GAATTTGTGACGGATGCTGTG	0.507													C|||	3	0.000599042	0.0015	0.0	5008	,	,		20633	0.0		0.0	False		,,,				2504	0.001					uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1519-1521)CGT>CAT		FRAS1 related extracellular matrix 1 precursor		C	HIS/ARG	13,4081		0,13,2034	143.0	144.0	144.0		1520	0.2	0.8	9		144	0,8412		0,0,4206	yes	missense	FREM1	NM_144966.5	29	0,13,6240	TT,TC,CC		0.0,0.3175,0.104	benign	507/2180	14842532	13,12493	2047	4206	6253	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842532C>T	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.1520G>A	9.37:g.14842532C>T	ENSP00000370262:p.Arg507His					FREM1_uc010mic.2_RNA	p.R507H	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	9	2110	-			507			CSPG 3.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1520G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380763	0.42207	0.003175	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.52754	0.65;0.65;0.65	5.93	0.253	0.15551	.	0.437419	0.27202	N	0.020452	T	0.38295	0.1035	L	0.50333	1.59	0.35532	D	0.802305	B	0.23591	0.088	B	0.24006	0.05	T	0.32455	-0.9906	10	0.44086	T	0.13	-0.0216	9.6068	0.39639	0.0:0.5995:0.0:0.4005	.	507	Q5H8C1	FREM1_HUMAN	H	508;507;507	ENSP00000370263:R508H;ENSP00000412940:R507H;ENSP00000370262:R507H	ENSP00000370257:R510H	R	-	2	0	FREM1	14832532	0.940000	0.31905	0.812000	0.32479	0.978000	0.69477	1.231000	0.32624	-0.225000	0.09913	-0.982000	0.02568	CGT		PASS	0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		144	21	144	21	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971199	21971199	+	Missense_Mutation	SNP	C	C	G	rs104894095		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr9:21971199C>G	ENST00000304494.5	-	2	429	c.159G>C	c.(157-159)atG>atC	p.M53I	CDKN2A_ENST00000498124.1_Missense_Mutation_p.M53I|CDKN2A_ENST00000579122.1_Missense_Mutation_p.M53I|CDKN2A_ENST00000494262.1_Missense_Mutation_p.M2I|CDKN2A_ENST00000361570.3_Missense_Mutation_p.D109H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.D68H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.M53I|CDKN2A_ENST00000578845.2_Missense_Mutation_p.M2I|CDKN2A_ENST00000530628.2_Missense_Mutation_p.D68H|CDKN2A_ENST00000497750.1_Missense_Mutation_p.M2I|CDKN2A_ENST00000498628.2_Missense_Mutation_p.M2I|CDKN2A_ENST00000479692.2_Missense_Mutation_p.M2I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	53			M -> I (in CMM2). {ECO:0000269|PubMed:8595405, ECO:0000269|PubMed:8710906, ECO:0000269|PubMed:9328469}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M53I(2)|p.0(1)|p.V28_V51del(1)|p.D109H(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCTGCCCATCATCATGACCT	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1368	Whole gene deletion(1316)|Unknown(45)|Deletion - In frame(4)|Substitution - Missense(3)	p.0?(1112)|p.?(14)|p.M53_R58del(3)|p.M53*(1)|p.V28_V51del(1)|p.M53T(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(92)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(53)|pleura(51)|oesophagus(50)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM056552|CM950229	CDKN2A	M	rs104894095	c.(157-159)ATG>ATC		cyclin-dependent kinase inhibitor 2A isoform 1							8.0	9.0	8.0					9																	21971199		2065	4124	6189	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971199C>G	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.159G>C	9.37:g.21971199C>G	ENSP00000307101:p.Met53Ile	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.D109H	p.M53I	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	371	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	53		M -> I (in CMM2).	ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.159G>C	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.635457|4.635457	0.87760|0.87760	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|T;T	0.84660|0.79554	-1.88;-1.81|-1.28;-1.28	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.40818|.	N|.	0.001001|.	T|T	0.74176|0.74176	0.3682|0.3682	L|L	0.36672|0.36672	1.1|1.1	0.51482|0.51482	D|D	0.999923|0.999923	D|D	0.89917|0.54397	1.0|0.966	D|B	0.91635|0.41619	0.999|0.361	T|T	0.72500|0.72500	-0.4274|-0.4274	10|9	0.87932|0.24483	D|T	0|0.36	-4.239|-4.239	18.8024|18.8024	0.92023|0.92023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	109|53	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	H|I	109;68|53	ENSP00000355153:D109H;ENSP00000432664:D68H|ENSP00000307101:M53I;ENSP00000394932:M53I	ENSP00000355153:D109H|ENSP00000307101:M53I	D|M	-|-	1|3	0|0	CDKN2A|CDKN2A	21961199|21961199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.842000|0.842000	0.47809|0.47809	6.879000|6.879000	0.75572|0.75572	2.734000|2.734000	0.93682|0.93682	0.555000|0.555000	0.69702|0.69702	GAT|ATG		PASS	0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		9	2	9	2	---	---	---	---
AUH	549	broad.mit.edu	37	9	93979600	93979600	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr9:93979600C>A	ENST00000375731.4	-	8	876	c.853G>T	c.(853-855)Gca>Tca	p.A285S	AUH_ENST00000303617.5_Missense_Mutation_p.A256S	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	285					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)	p.A285S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						ACTCTCATTGCAACAGGTCCC	0.333																																						uc004arf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)GCA>TCA		AU RNA binding protein/enoyl-Coenzyme A							102.0	95.0	97.0					9																	93979600		2203	4300	6503	SO:0001583	missense	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:93979600C>A	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.853G>T	9.37:g.93979600C>A	ENSP00000364883:p.Ala285Ser					AUH_uc004arg.3_Missense_Mutation_p.A256S	p.A285S	NM_001698	NP_001689	Q13825	AUHM_HUMAN			8	888	-			285					B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	c.853G>T	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763714	0.89932	.	.	ENSG00000148090	ENST00000375731;ENST00000303617	T;T	0.79653	-1.29;-1.29	5.21	5.21	0.72293	Crontonase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89005	0.6592	M	0.73319	2.225	0.80722	D	1	P;P	0.51537	0.926;0.946	D;D	0.68483	0.958;0.944	D	0.87943	0.2718	10	0.44086	T	0.13	.	18.9459	0.92622	0.0:1.0:0.0:0.0	.	256;285	Q13825-2;Q13825	.;AUHM_HUMAN	S	285;256	ENSP00000364883:A285S;ENSP00000307334:A256S	ENSP00000307334:A256S	A	-	1	0	AUH	93019421	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.913000	0.75759	2.722000	0.93159	0.591000	0.81541	GCA		PASS	0.333	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1			67	12	67	12	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121971069	121971069	+	Missense_Mutation	SNP	C	C	G	rs17476783	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr9:121971069C>G	ENST00000265922.3	-	7	1534	c.1073G>C	c.(1072-1074)cGc>cCc	p.R358P	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	358			R -> H (common polymorphism; dbSNP:rs17476783). {ECO:0000269|PubMed:11420708}.		cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R358P(1)									GCGGGCAGTGCGTTGGATCTT	0.577																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1072-1074)CGC>CCC		deleted in bladder cancer 1 precursor							224.0	186.0	199.0					9																	121971069		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121971069C>G	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1073G>C	9.37:g.121971069C>G	ENSP00000265922:p.Arg358Pro						p.R358P	NM_014618	NP_055433	O60477	DBC1_HUMAN			7	1529	-			358					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1073G>C	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256802	0.59321	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.16597	2.33	5.79	5.79	0.91817	.	0.100392	0.64402	N	0.000002	T	0.25269	0.0614	L	0.57536	1.79	0.58432	D	0.999995	P	0.49447	0.924	B	0.43386	0.418	T	0.01175	-1.1428	10	0.72032	D	0.01	-11.8241	19.0317	0.92960	0.0:1.0:0.0:0.0	.	358	O60477	DBC1_HUMAN	P	358	ENSP00000265922:R358P	ENSP00000265922:R358P	R	-	2	0	DBC1	121010890	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.797000	0.55514	2.731000	0.93534	0.650000	0.86243	CGC		PASS	0.577	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		77	12	77	12	---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130258289	130258289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr9:130258289C>A	ENST00000323301.4	+	22	2349	c.1745C>A	c.(1744-1746)tCg>tAg	p.S582*	LRSAM1_ENST00000300417.6_Nonsense_Mutation_p.S582*|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Nonsense_Mutation_p.S582*|LRSAM1_ENST00000373324.4_Nonsense_Mutation_p.S555*	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	582	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S582*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GAGGAGCTGTCGGCTGAGCAC	0.607																																						uc004brb.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1744-1746)TCG>TAG		leucine rich repeat and sterile alpha motif							59.0	50.0	53.0					9																	130258289		2202	4300	6502	SO:0001587	stop_gained	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130258289C>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1745C>A	9.37:g.130258289C>A	ENSP00000322937:p.Ser582*					LRSAM1_uc010mxk.1_Nonsense_Mutation_p.S555*|LRSAM1_uc004brc.1_Nonsense_Mutation_p.S582*|LRSAM1_uc004brd.1_Nonsense_Mutation_p.S582*|LRSAM1_uc004bre.1_Nonsense_Mutation_p.S162*|uc004brf.1_5'Flank|LRSAM1_uc004brg.1_Nonsense_Mutation_p.S13*	p.S582*	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			23	2090	+			582			SAM.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Nonsense_Mutation	SNP	ENST00000323301.4	37	c.1745C>A	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	43	10.134058	0.99344	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1933	17.5248	0.87796	0.0:1.0:0.0:0.0	.	.	.	.	X	582;555;582;582	.	ENSP00000300417:S582X	S	+	2	0	LRSAM1	129298110	0.998000	0.40836	0.992000	0.48379	0.957000	0.61999	3.902000	0.56310	2.728000	0.93425	0.561000	0.74099	TCG		PASS	0.607	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		35	4	35	4	---	---	---	---
FUBP3	8939	broad.mit.edu	37	9	133507353	133507353	+	Silent	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr9:133507353G>T	ENST00000319725.9	+	15	1452	c.1377G>T	c.(1375-1377)ggG>ggT	p.G459G		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	459					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G459G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GGAGCTCCGGGTGCTTCCCAA	0.592																																						uc004bzr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1375-1377)GGG>GGT		far upstream element (FUSE) binding protein 3							112.0	116.0	115.0					9																	133507353		1931	4127	6058	SO:0001819	synonymous_variant	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133507353G>T	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1377G>T	9.37:g.133507353G>T						FUBP3_uc004bzs.1_Silent_p.G372G	p.G459G	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	15	1485	+			459					A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	ENST00000319725.9	37	c.1377G>T	CCDS43893.1																																																																																				PASS	0.592	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			90	15	90	15	---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22094922	22094924	+	Missense_Mutation	TNP	CGA	CGA	AAC	rs200922053		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:22094922_22094924CGA>AAC	ENST00000376980.3	-	9	1373_1375	c.1083_1085TCG>GTT	c.(1081-1086)ggTCGa>ggGTTa	p.R362L	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	362	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R362*(1)|p.G361G(1)|p.R362L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TGTCACAGATCGACCCAATTCGT	0.468																																						uc001irc.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)	lung(1)	1						c.(1084-1086)CGA>CTA|c.(1084-1086)CGA>TGA|c.(1081-1083)GGT>GGG		DnaJ (Hsp40) homolog, subfamily C, member 1																																				SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22094922C>A|g.chr10:22094923G>A|g.chr10:22094924A>C	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1083_1085TCG>GTT	10.37:g.22094922CGA>AAC	ENSP00000366179:p.Arg362Leu					DNAJC1_uc001ird.2_Missense_Mutation_p.R248L|DNAJC1_uc001ird.2_Nonsense_Mutation_p.R248*|DNAJC1_uc001ird.2_Silent_p.G247G	p.R362L|p.R362*|p.G361G	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			9	1372|1371|1370	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	362|362|361			Cytoplasmic (By similarity).|SANT 1.		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation|Nonsense_Mutation|Silent	SNP	ENST00000376980.3	37	c.1085G>T|c.1084C>T|c.1083T>G	CCDS7136.1																																																																																				PASS	0.468	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		35|38|34	31|30|33	34	30	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25886740	25886740	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:25886740A>G	ENST00000376351.3	+	11	2544	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	729					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K729E(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAAATATATAAAAGAAAGAA	0.433																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2185-2187)AAA>GAA		G protein-coupled receptor 158 precursor							82.0	94.0	90.0					10																	25886740		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886740A>G	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2185A>G	10.37:g.25886740A>G	ENSP00000365529:p.Lys729Glu					GPR158_uc001isk.2_Missense_Mutation_p.K104E	p.K729E	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2245	+			729			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2185A>G	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.467255	0.63625	.	.	ENSG00000151025	ENST00000376351	T	0.80123	-1.34	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	D	0.89619	0.6767	M	0.77103	2.36	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	D	0.90965	0.4815	10	0.87932	D	0	.	15.6752	0.77311	1.0:0.0:0.0:0.0	.	729	Q5T848	GP158_HUMAN	E	729	ENSP00000365529:K729E	ENSP00000365529:K729E	K	+	1	0	GPR158	25926746	1.000000	0.71417	0.967000	0.41034	0.007000	0.05969	8.710000	0.91388	2.107000	0.64212	0.528000	0.53228	AAA		PASS	0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		84	120	84	120	---	---	---	---
ZNF37A	7587	broad.mit.edu	37	10	38404208	38404208	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:38404208G>A	ENST00000361085.5	+	6	573	c.228G>A	c.(226-228)caG>caA	p.Q76Q	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000351773.3_Silent_p.Q76Q	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q76Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTCCAAGCCAGAGTCATCTGG	0.393																																						uc001izk.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(226-228)CAG>CAA		zinc finger protein 37a							65.0	59.0	61.0					10																	38404208		2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38404208G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.228G>A	10.37:g.38404208G>A						ZNF37A_uc001izl.2_Silent_p.Q76Q|ZNF37A_uc001izm.2_Silent_p.Q76Q	p.Q76Q	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			7	1047	+			76			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.228G>A	CCDS31183.1																																																																																				PASS	0.393	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		36	9	36	9	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43285856	43285856	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:43285856A>T	ENST00000374518.5	+	5	596	c.533A>T	c.(532-534)aAa>aTa	p.K178I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	178	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.K178I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCTTTCCTAAAATTATGGGA	0.403																																						uc001jaj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(532-534)AAA>ATA		BMS1-like, ribosome assembly protein							99.0	98.0	98.0					10																	43285856		2203	4299	6502	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43285856A>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.533A>T	10.37:g.43285856A>T	ENSP00000363642:p.Lys178Ile						p.K178I	NM_014753	NP_055568	Q14692	BMS1_HUMAN			5	891	+			178					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.533A>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	a	23.6	4.431596	0.83776	.	.	ENSG00000165733	ENST00000374518	T	0.10477	2.87	5.4	5.4	0.78164	Protein synthesis factor, GTP-binding (1);	0.049761	0.85682	D	0.000000	T	0.36880	0.0983	M	0.84156	2.68	0.45129	D	0.998149	D	0.89917	1.0	D	0.81914	0.995	T	0.26467	-1.0102	10	0.62326	D	0.03	.	15.5653	0.76287	1.0:0.0:0.0:0.0	.	178	Q14692	BMS1_HUMAN	I	178	ENSP00000363642:K178I	ENSP00000363642:K178I	K	+	2	0	BMS1	42605862	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.265000	0.78442	2.078000	0.62432	0.402000	0.26972	AAA		PASS	0.403	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		156	39	156	39	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49448458	49448458	+	Silent	SNP	C	C	T	rs374495446		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:49448458C>T	ENST00000374201.3	-	6	947	c.645G>A	c.(643-645)ggG>ggA	p.G215G	FRMPD2_ENST00000407470.4_Silent_p.G184G|FRMPD2_ENST00000305531.3_Silent_p.G191G	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	215					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.G215G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CGCTGCTTGTCCCACGCAGCC	0.602																																						uc001jgi.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(643-645)GGG>GGA		FERM and PDZ domain containing 2 isoform 3		C		0,4406		0,0,2203	69.0	63.0	65.0		645	2.5	0.0	10		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FRMPD2	NM_001018071.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		215/1310	49448458	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49448458C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.645G>A	10.37:g.49448458C>T						FRMPD2_uc001jgh.2_Silent_p.G184G|FRMPD2_uc001jgj.2_Silent_p.G193G	p.G215G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	6	752	-			215					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.645G>A	CCDS31195.1																																																																																				PASS	0.602	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		38	47	38	47	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55698651	55698651	+	Silent	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:55698651G>T	ENST00000320301.6	-	25	3691	c.3297C>A	c.(3295-3297)acC>acA	p.T1099T	PCDH15_ENST00000395433.1_Silent_p.T1077T|PCDH15_ENST00000414778.1_Silent_p.T1104T|PCDH15_ENST00000395432.2_Silent_p.T1062T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Silent_p.T1106T|PCDH15_ENST00000361849.3_Silent_p.T1099T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.T1099T|PCDH15_ENST00000409834.1_Silent_p.T710T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.T1028T|PCDH15_ENST00000395430.1_Silent_p.T1099T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.T1106T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1099	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T1104T(2)|p.T1099T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCTTGTCCTGGTCTCATAAT	0.373										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3295-3297)ACC>ACA		protocadherin 15 isoform CD1-4 precursor							115.0	108.0	110.0					10																	55698651		2203	4299	6502	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55698651G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3297C>A	10.37:g.55698651G>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.T1104T|PCDH15_uc010qhr.1_Silent_p.T1099T|PCDH15_uc010qhs.1_Silent_p.T1111T|PCDH15_uc010qht.1_Silent_p.T1106T|PCDH15_uc010qhu.1_Silent_p.T1099T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.T1099T|PCDH15_uc010qhw.1_Silent_p.T1062T|PCDH15_uc010qhx.1_Silent_p.T1028T|PCDH15_uc010qhy.1_Silent_p.T1104T|PCDH15_uc010qhz.1_Silent_p.T1099T|PCDH15_uc010qia.1_Silent_p.T1077T|PCDH15_uc010qib.1_Silent_p.T1077T	p.T1099T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			25	3692	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1099			Cadherin 10.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3297C>A	CCDS7248.1																																																																																				PASS	0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		123	17	123	17	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75567217	75567217	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:75567217G>A	ENST00000309979.6	-	3	1486	c.930C>T	c.(928-930)gaC>gaT	p.D310D	NDST2_ENST00000299641.4_Silent_p.D187D|RP11-574K11.31_ENST00000603027.1_Silent_p.D310D			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	310	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.D310D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGATGTAGCGGTCAAGGTCCA	0.493																																						uc001jvk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(928-930)GAC>GAT		heparan glucosaminyl							94.0	88.0	90.0					10																	75567217		2203	4300	6503	SO:0001819	synonymous_variant	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567217G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.930C>T	10.37:g.75567217G>A						NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.D187D|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.D187D	p.D310D	NM_003635	NP_003626	P52849	NDST2_HUMAN			3	1734	-	Prostate(51;0.0112)		310			Lumenal (Potential).|Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Silent	SNP	ENST00000309979.6	37	c.930C>T	CCDS7335.1																																																																																				PASS	0.493	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		95	19	95	19	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105758924	105758924	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:105758924A>G	ENST00000369755.3	+	6	1180	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	SLK_ENST00000335753.4_Missense_Mutation_p.Y212C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.Y212C(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GACAGACCCTATGACTACAAA	0.383																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(634-636)TAT>TGT		serine/threonine kinase 2							82.0	79.0	80.0					10																	105758924		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105758924A>G		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.635A>G	10.37:g.105758924A>G	ENSP00000358770:p.Tyr212Cys					SLK_uc001kxp.1_Missense_Mutation_p.Y212C	p.Y212C	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	6	669	+		Colorectal(252;0.178)	212			Protein kinase.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.635A>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.601073	0.87055	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.19938	2.11;2.11	5.96	5.96	0.96718	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70461	-0.4865	10	0.87932	D	0	.	16.4277	0.83824	1.0:0.0:0.0:0.0	.	212;212	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	C	212	ENSP00000336824:Y212C;ENSP00000358770:Y212C	ENSP00000336824:Y212C	Y	+	2	0	SLK	105748914	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.287000	0.95975	2.279000	0.76181	0.533000	0.62120	TAT		PASS	0.383	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		113	7	113	7	---	---	---	---
PLEKHA1	59338	broad.mit.edu	37	10	124177426	124177426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:124177426G>A	ENST00000368990.3	+	8	754	c.623G>A	c.(622-624)tGg>tAg	p.W208*	PLEKHA1_ENST00000433307.1_Nonsense_Mutation_p.W208*|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000368988.1_Nonsense_Mutation_p.W208*|PLEKHA1_ENST00000368989.2_Nonsense_Mutation_p.W208*|PLEKHA1_ENST00000538022.1_Nonsense_Mutation_p.W208*	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	208	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)	p.W208*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGAAAAACTGGAAGAGAAGA	0.333																																						uc001lge.1																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(622-624)TGG>TAG		pleckstrin homology domain containing, family A							87.0	83.0	84.0					10																	124177426		2203	4300	6503	SO:0001587	stop_gained	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124177426G>A	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.623G>A	10.37:g.124177426G>A	ENSP00000357986:p.Trp208*					PLEKHA1_uc001lgf.1_Nonsense_Mutation_p.W208*|PLEKHA1_uc001lgg.1_Nonsense_Mutation_p.W208*|PLEKHA1_uc001lgh.2_Nonsense_Mutation_p.W208*	p.W208*	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN			8	746	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	208			PH 2.		B3KQ55|D3DRE2|Q9BVK0	Nonsense_Mutation	SNP	ENST00000368990.3	37	c.623G>A	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	G	38	6.798736	0.97845	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6433	20.0007	0.97408	0.0:0.0:1.0:0.0	.	.	.	.	X	208	.	ENSP00000357984:W208X	W	+	2	0	PLEKHA1	124167416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.305000	0.96197	2.726000	0.93360	0.650000	0.86243	TGG		PASS	0.333	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		66	17	66	17	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127806611	127806611	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:127806611C>T	ENST00000368679.4	-	6	917	c.608G>A	c.(607-609)aGa>aAa	p.R203K	ADAM12_ENST00000368676.4_Missense_Mutation_p.R203K	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	203					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R203K(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTACCCTTCTTGCCCATGT	0.488																																						uc001ljk.2																			3	Substitution - Missense(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(607-609)AGA>AAA		ADAM metallopeptidase domain 12 isoform 1							192.0	173.0	179.0					10																	127806611		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127806611C>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.608G>A	10.37:g.127806611C>T	ENSP00000357668:p.Arg203Lys					ADAM12_uc010qul.1_Missense_Mutation_p.R200K|ADAM12_uc001ljm.2_Missense_Mutation_p.R203K|ADAM12_uc001ljn.2_Missense_Mutation_p.R200K|ADAM12_uc001ljl.3_Missense_Mutation_p.R200K	p.R203K	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	6	1021	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	203					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.608G>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	8.598	0.886087	0.17540	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.23147	4.68;1.92;3.66	4.89	2.97	0.34412	.	0.766324	0.12361	N	0.475613	T	0.11965	0.0291	N	0.08118	0	0.30831	N	0.736721	B;B;B;B;B	0.11235	0.001;0.001;0.001;0.002;0.004	B;B;B;B;B	0.11329	0.001;0.003;0.003;0.006;0.004	T	0.31364	-0.9946	10	0.16420	T	0.52	.	7.7512	0.28898	0.0:0.747:0.1617:0.0913	.	200;200;203;200;203	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	K	203;203;200	ENSP00000357668:R203K;ENSP00000357665:R203K;ENSP00000391268:R200K	ENSP00000357665:R203K	R	-	2	0	ADAM12	127796601	0.604000	0.26932	0.581000	0.28614	0.232000	0.25224	0.856000	0.27818	0.602000	0.29896	0.655000	0.94253	AGA		PASS	0.488	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			237	45	237	45	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135099108	135099108	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:135099108T>C	ENST00000252936.3	-	11	1786	c.1747A>G	c.(1747-1749)Atc>Gtc	p.I583V	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.I453V|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.I611V|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.I176V|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.I583V			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	583					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.I583V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGCTGAGTGATGAGGTCATGG	0.592																																						uc001lmg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)ATC>GTC		tubulin, gamma complex associated protein 2							46.0	43.0	44.0					10																	135099108		2202	4299	6501	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135099108T>C	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1747A>G	10.37:g.135099108T>C	ENSP00000252936:p.Ile583Val					TUBGCP2_uc001lmf.1_Missense_Mutation_p.I176V|TUBGCP2_uc010qvc.1_Missense_Mutation_p.I611V|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Missense_Mutation_p.I453V|TUBGCP2_uc001lmh.1_RNA	p.I583V	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	12	2104	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	583					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1747A>G	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.545358	0.27652	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	5.64	3.28	0.37604	.	0.055086	0.64402	N	0.000001	T	0.06508	0.0167	L	0.39020	1.185	0.53005	D	0.999962	B;B	0.06786	0.001;0.0	B;B	0.15052	0.012;0.004	T	0.32214	-0.9915	10	0.15066	T	0.55	-36.1576	8.5875	0.33666	0.0:0.168:0.0:0.832	.	611;583	F5H4L0;Q9BSJ2	.;GCP2_HUMAN	V	583;453;583;176;611	ENSP00000252936:I583V;ENSP00000395666:I453V;ENSP00000357551:I583V;ENSP00000357550:I176V;ENSP00000446093:I611V	ENSP00000252936:I583V	I	-	1	0	TUBGCP2	134949098	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	4.761000	0.62243	0.499000	0.27970	0.533000	0.62120	ATC		PASS	0.592	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			31	7	31	7	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3789812	3789812	+	Splice_Site	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:3789812A>G	ENST00000324932.7	-	8	1367	c.947T>C	c.(946-948)aTg>aCg	p.M316T	NUP98_ENST00000359171.4_Splice_Site_p.M316T|NUP98_ENST00000355260.3_Splice_Site_p.M316T|NUP98_ENST00000397004.4_Splice_Site_p.M316T|NUP98_ENST00000397007.4_Splice_Site_p.M316T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	316	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.M316T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTCCTTACCATGGTGTTGGT	0.433			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(946-948)ATG>ACG		nucleoporin 98kD isoform 1							218.0	196.0	203.0					11																	3789812		2201	4298	6499	SO:0001630	splice_region_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3789812A>G	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.948+1T>C	11.37:g.3789812A>G						NUP98_uc001lyi.2_Missense_Mutation_p.M316T|NUP98_uc001lyj.1_Missense_Mutation_p.M316T|NUP98_uc001lyk.1_Missense_Mutation_p.M316T	p.M316T	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	8	1238	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	316			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.947T>C	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603478	0.46423	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.71	5.71	0.89125	.	0.088754	0.85682	D	0.000000	T	0.47728	0.1461	N	0.17800	0.525	0.40720	D	0.982656	P;B;D;D	0.57899	0.572;0.003;0.98;0.981	B;B;P;P	0.53861	0.24;0.007;0.736;0.604	T	0.38628	-0.9652	9	0.09843	T	0.71	.	15.1602	0.72778	1.0:0.0:0.0:0.0	.	316;316;316;316	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	T	316	.	ENSP00000316032:M316T	M	-	2	0	NUP98	3746388	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.115000	0.77110	2.182000	0.69389	0.460000	0.39030	ATG		PASS	0.433	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	Missense_Mutation	254	38	254	38	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5010971	5010971	+	Missense_Mutation	SNP	G	G	C	rs201829333	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:5010971G>C	ENST00000380390.1	+	3	409	c.193G>C	c.(193-195)Ggg>Cgg	p.G65R	MMP26_ENST00000300762.1_Missense_Mutation_p.G65R|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	65					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G65W(1)|p.G65R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCATCGGAATGGGACAGACCT	0.527																																						uc001lzv.2																			2	Substitution - Missense(2)		lung(1)|breast(1)		0						c.(193-195)GGG>CGG		matrix metalloproteinase 26 preproprotein							84.0	66.0	72.0					11																	5010971		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5010971G>C	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.193G>C	11.37:g.5010971G>C	ENSP00000369753:p.Gly65Arg						p.G65R	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	211	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	65					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.193G>C	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531666	0.27387	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37411	1.2;1.2	3.73	1.81	0.25067	Metallopeptidase, catalytic domain (1);	1.159660	0.06762	N	0.782031	T	0.29620	0.0739	L	0.40543	1.245	0.09310	N	1	B	0.26002	0.139	B	0.19391	0.025	T	0.30736	-0.9968	10	0.62326	D	0.03	0.4	6.8431	0.23973	0.2392:0.0:0.7608:0.0	.	65	Q9NRE1	MMP26_HUMAN	R	65	ENSP00000369753:G65R;ENSP00000300762:G65R	ENSP00000300762:G65R	G	+	1	0	MMP26	4967547	0.119000	0.22226	0.001000	0.08648	0.048000	0.14542	1.924000	0.40065	0.541000	0.28827	0.557000	0.71058	GGG		PASS	0.527	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		49	13	49	13	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020271	5020271	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:5020271C>T	ENST00000321543.1	+	1	59	c.59C>T	c.(58-60)cCt>cTt	p.P20L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P20L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGGTTTTCCTGGACTGGAG	0.428																																						uc010qyu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(58-60)CCT>CTT		olfactory receptor, family 51, subfamily L,							215.0	204.0	208.0					11																	5020271		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020271C>T	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.59C>T	11.37:g.5020271C>T	ENSP00000322156:p.Pro20Leu						p.P20L	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	59	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	20			Extracellular (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.59C>T	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591576	0.46214	.	.	ENSG00000176798	ENST00000321543	T	0.00493	7.0	5.58	4.67	0.58626	.	0.000000	0.43919	D	0.000507	T	0.00845	0.0028	M	0.88775	2.98	0.36136	D	0.846497	P	0.43287	0.802	B	0.34489	0.184	T	0.57481	-0.7804	10	0.72032	D	0.01	.	14.7839	0.69787	0.1453:0.8547:0.0:0.0	.	20	Q8NGJ5	O51L1_HUMAN	L	20	ENSP00000322156:P20L	ENSP00000322156:P20L	P	+	2	0	OR51L1	4976847	0.161000	0.22892	0.972000	0.41901	0.492000	0.33523	1.815000	0.38981	1.580000	0.49851	0.655000	0.94253	CCT		PASS	0.428	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		260	46	260	46	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153222	5153222	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:5153222T>C	ENST00000307388.1	-	1	650	c.651A>G	c.(649-651)atA>atG	p.I217M		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	217					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I217M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGACAAGGTTATAAATATTA	0.418																																						uc010qyx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(649-651)ATA>ATG		olfactory receptor, family 52, subfamily A,							87.0	85.0	86.0					11																	5153222		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153222T>C	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.651A>G	11.37:g.5153222T>C	ENSP00000303469:p.Ile217Met						p.I217M	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	651	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	217			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.651A>G	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604919	0.46423	.	.	ENSG00000171944	ENST00000307388	T	0.00333	8.07	4.94	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000166	T	0.00998	0.0033	H	0.97635	4.045	0.09310	N	1	D	0.53885	0.963	D	0.68943	0.961	T	0.05068	-1.0908	10	0.87932	D	0	.	9.4564	0.38758	0.5035:0.0:0.4055:0.091	.	217	Q9H2C5	O52A5_HUMAN	M	217	ENSP00000303469:I217M	ENSP00000303469:I217M	I	-	3	3	OR52A5	5109798	0.000000	0.05858	0.560000	0.28344	0.001000	0.01503	-1.341000	0.02647	-1.319000	0.02286	-2.320000	0.00252	ATA		PASS	0.418	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		152	18	152	18	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529151	5529151	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:5529151C>T	ENST00000311659.4	-	2	1785	c.1638G>A	c.(1636-1638)atG>atA	p.M546I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	546			M -> T (in dbSNP:rs2234455).					p.M546I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGGCAAGGCATGAACCAGA	0.572																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1636-1638)ATG>ATA		ubiquilin 3							56.0	51.0	52.0					11																	5529151		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529151C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1638G>A	11.37:g.5529151C>T	ENSP00000347997:p.Met546Ile					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.M546I	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1724	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	546					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1638G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542914	0.27563	.	.	ENSG00000175520	ENST00000311659	T	0.36157	1.27	5.02	2.08	0.27032	.	0.544265	0.16946	N	0.193082	T	0.31231	0.0790	M	0.64404	1.975	0.26731	N	0.970585	B	0.14805	0.011	B	0.06405	0.002	T	0.20974	-1.0259	10	0.34782	T	0.22	-30.8581	6.7279	0.23367	0.0:0.6865:0.1472:0.1662	.	546	Q9H347	UBQL3_HUMAN	I	546	ENSP00000347997:M546I	ENSP00000347997:M546I	M	-	3	0	UBQLN3	5485727	0.911000	0.30947	0.993000	0.49108	0.964000	0.63967	0.372000	0.20467	0.373000	0.24621	0.655000	0.94253	ATG		PASS	0.572	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		64	9	64	9	---	---	---	---
MRVI1	10335	broad.mit.edu	37	11	10622583	10622583	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:10622583C>T	ENST00000436272.1	-	14	1896	c.1818G>A	c.(1816-1818)acG>acA	p.T606T	MRVI1_ENST00000421747.1_Silent_p.T624T|MRVI1_ENST00000541483.1_Silent_p.T427T|MRVI1_ENST00000531107.1_Silent_p.T625T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Silent_p.T542T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000424001.1_Silent_p.T318T|MRVI1_ENST00000545852.1_Silent_p.T318T|MRVI1_ENST00000558540.1_Silent_p.T318T|MRVI1_ENST00000547195.1_Silent_p.T542T|MRVI1_ENST00000534266.2_Silent_p.T318T|MRVI1_ENST00000423302.2_Silent_p.T633T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000552103.1_Silent_p.T542T|MRVI1-AS1_ENST00000529829.1_RNA			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	606					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.T606T(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCATCACTTCCGTTGCTTTCG	0.493																																						uc010rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1897-1899)ACG>ACA		JAW1-related protein isoform c							260.0	256.0	257.0					11																	10622583		1967	4146	6113	SO:0001819	synonymous_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622583C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1818G>A	11.37:g.10622583C>T						MRVI1_uc001miw.2_Silent_p.T624T|MRVI1_uc010rcb.1_Silent_p.T625T|MRVI1_uc009ygb.1_Silent_p.T318T|MRVI1_uc001mix.2_Silent_p.T318T|MRVI1_uc001miz.2_Silent_p.T542T|MRVI1_uc009ygc.1_Silent_p.T542T|MRVI1_uc010rcd.1_Silent_p.T427T|MRVI1_uc009ygd.1_Silent_p.T318T|MRVI1_uc010rce.1_RNA	p.T633T	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	15	2285	-			606			Potential.		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37	c.1899G>A																																																																																					PASS	0.493	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		195	312	195	312	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20101645	20101645	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:20101645C>T	ENST00000396087.3	+	27	5482	c.5383C>T	c.(5383-5385)Cgc>Tgc	p.R1795C	NAV2_ENST00000540292.1_Missense_Mutation_p.R1726C|NAV2_ENST00000349880.4_Missense_Mutation_p.R1739C|NAV2_ENST00000311043.8_Missense_Mutation_p.R803C|NAV2_ENST00000360655.4_Missense_Mutation_p.R1675C|NAV2_ENST00000533917.1_Missense_Mutation_p.R803C|NAV2_ENST00000527559.2_Missense_Mutation_p.R1724C|NAV2_ENST00000396085.1_Missense_Mutation_p.R1739C	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1795					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.R1795C(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						CCTCCGCATCCGCAGGCAGCA	0.562																																						uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(5383-5385)CGC>TGC		neuron navigator 2 isoform 2							59.0	55.0	56.0					11																	20101645		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20101645C>T	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.5383C>T	11.37:g.20101645C>T	ENSP00000379396:p.Arg1795Cys					NAV2_uc001mpp.2_Missense_Mutation_p.R1675C|NAV2_uc001mpr.3_Missense_Mutation_p.R1739C|NAV2_uc001mpt.2_Missense_Mutation_p.R788C|NAV2_uc009yhx.2_Missense_Mutation_p.R803C|NAV2_uc009yhy.1_Missense_Mutation_p.R701C|NAV2_uc009yhz.2_Missense_Mutation_p.R384C|NAV2_uc001mpu.2_Missense_Mutation_p.R177C	p.R1795C	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			27	5744	+			1795					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5383C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496534	0.85069	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000011	D	0.96343	0.8807	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;P;P;D;D;D	0.79108	0.983;0.871;0.878;0.955;0.992;0.955	D	0.95613	0.8674	9	.	.	.	.	14.6673	0.68918	0.1453:0.8547:0.0:0.0	.	1739;1795;803;788;1739;1675	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	C	1675;1739;1739;1795;1724;1726;803;788;803;788	ENSP00000353871:R1675C;ENSP00000379394:R1739C;ENSP00000309577:R1739C;ENSP00000379396:R1795C;ENSP00000435395:R1724C;ENSP00000443489:R1726C;ENSP00000437316:R803C;ENSP00000437136:R788C;ENSP00000312169:R803C	.	R	+	1	0	NAV2	20058221	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.029000	0.57253	2.694000	0.91930	0.557000	0.71058	CGC		PASS	0.562	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	6	29	6	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40136637	40136637	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:40136637C>A	ENST00000278198.2	-	2	3169	c.1206G>T	c.(1204-1206)cgG>cgT	p.R402R	LRRC4C_ENST00000530763.1_Silent_p.R402R|LRRC4C_ENST00000528697.1_Silent_p.R402R|LRRC4C_ENST00000527150.1_Silent_p.R402R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	402	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R402R(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCACAGCTATCCGCACTTTGT	0.453																																						uc001mxa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1204-1206)CGG>CGT		netrin-G1 ligand precursor							206.0	177.0	187.0					11																	40136637		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136637C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1206G>T	11.37:g.40136637C>A						LRRC4C_uc001mxc.1_Silent_p.R398R|LRRC4C_uc001mxd.1_Silent_p.R398R|LRRC4C_uc001mxb.1_Silent_p.R398R	p.R402R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3170	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	402			Ig-like C2-type.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1206G>T	CCDS31464.1																																																																																				PASS	0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		309	54	309	54	---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671652	45671652	+	Silent	SNP	C	C	A	rs369014915		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:45671652C>A	ENST00000308064.2	-	4	1492	c.822G>T	c.(820-822)acG>acT	p.T274T	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	274					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.T274T(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCTCGCACACCGTGGTCAGCT	0.652																																						uc001mys.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(4)|pancreas(1)	5						c.(820-822)ACG>ACT		carbohydrate (keratan sulfate Gal-6)							93.0	76.0	82.0					11																	45671652		2203	4299	6502	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671652C>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.822G>T	11.37:g.45671652C>A							p.T274T	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1493	-			274			Lumenal (Potential).		D3DQP2	Silent	SNP	ENST00000308064.2	37	c.822G>T	CCDS7913.1																																																																																				PASS	0.652	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		108	16	108	16	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328166	48328166	+	Missense_Mutation	SNP	C	C	A	rs373016390		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:48328166C>A	ENST00000319988.1	+	1	392	c.392C>A	c.(391-393)aCa>aAa	p.T131K		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T131K(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTGCACTACACAGCCATCATG	0.577																																						uc010rhu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)ACA>AAA		olfactory receptor, family 4, subfamily S,		C	LYS/THR	0,4402		0,0,2201	101.0	90.0	94.0		392	0.1	0.0	11		94	1,8575	1.2+/-3.3	0,1,4287	no	missense	OR4S1	NM_001004725.1	78	0,1,6488	AA,AC,CC		0.0117,0.0,0.0077	benign	131/310	48328166	1,12977	2201	4288	6489	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328166C>A	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.392C>A	11.37:g.48328166C>A	ENSP00000321447:p.Thr131Lys						p.T131K	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	392	+			131			Cytoplasmic (Potential).		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.392C>A	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831585	0.32329	0.0	1.17E-4	ENSG00000176555	ENST00000319988	T	0.18810	2.19	5.02	0.0983	0.14497	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24509	0.0594	M	0.81614	2.55	0.09310	N	1	B	0.22683	0.073	B	0.26094	0.066	T	0.33111	-0.9881	9	0.54805	T	0.06	.	4.7118	0.12875	0.144:0.507:0.0:0.349	.	131	Q8NGB4	OR4S1_HUMAN	K	131	ENSP00000321447:T131K	ENSP00000321447:T131K	T	+	2	0	OR4S1	48284742	0.000000	0.05858	0.004000	0.12327	0.834000	0.47266	-2.613000	0.00883	-0.167000	0.10871	0.655000	0.94253	ACA		PASS	0.577	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		64	146	64	146	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48347034	48347034	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:48347034C>T	ENST00000319856.4	+	1	563	c.542C>T	c.(541-543)tCa>tTa	p.S181L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S181L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCCTGCATTCATTGGTTCAG	0.532																																						uc010rhv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(541-543)TCA>TTA		olfactory receptor, family 4, subfamily C,							147.0	138.0	141.0					11																	48347034		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347034C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.542C>T	11.37:g.48347034C>T	ENSP00000321419:p.Ser181Leu						p.S181L	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	542	+			154			Helical; Name=4; (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.542C>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890882	0.72524	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.43688	0.94	5.78	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000442	T	0.59918	0.2229	M	0.86740	2.835	0.21950	N	0.999456	P	0.37015	0.578	P	0.46208	0.507	T	0.60316	-0.7287	10	0.87932	D	0	.	14.7645	0.69629	0.0:0.8546:0.1454:0.0	.	154	Q8NH37	OR4C3_HUMAN	L	181;44	ENSP00000321419:S181L	ENSP00000321419:S181L	S	+	2	0	OR4C3	48303610	0.000000	0.05858	0.808000	0.32385	0.929000	0.56500	0.465000	0.22004	1.468000	0.48064	0.478000	0.44815	TCA		PASS	0.532	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		33	202	33	202	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55321832	55321832	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:55321832C>T	ENST00000314644.2	+	1	50	c.50C>T	c.(49-51)aCc>aTc	p.T17I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T17I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTGGATGTACCAACTTGTTA	0.328										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(49-51)ACC>ATC		olfactory receptor, family 4, subfamily C,							134.0	132.0	133.0					11																	55321832		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321832C>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.50C>T	11.37:g.55321832C>T	ENSP00000324958:p.Thr17Ile	HNSCC(20;0.049)					p.T17I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	50	+			Error:Variant_position_missing_in_Q8NGM1_after_alignment					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.50C>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	4.902	0.167644	0.09339	.	.	ENSG00000181939	ENST00000314644	T	0.00001	9.89	3.7	-2.18	0.07037	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.03095	-1.1073	6	0.87932	D	0	.	0.7167	0.00933	0.1677:0.3526:0.1644:0.3152	.	.	.	.	I	17	ENSP00000324958:T17I	ENSP00000324958:T17I	T	+	2	0	OR4C15	55078408	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.318000	0.02705	-0.405000	0.07599	0.385000	0.25706	ACC		PASS	0.328	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		186	30	186	30	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380848	56380848	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:56380848C>A	ENST00000526538.1	-	1	130	c.131G>T	c.(130-132)tGc>tTc	p.C44F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C44F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CAGGATCATGCACAGGTTGCC	0.473																																						uc001nja.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(130-132)TGC>TTC		olfactory receptor, family 5, subfamily M,							168.0	165.0	166.0					11																	56380848		1987	4172	6159	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380848C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.131G>T	11.37:g.56380848C>A	ENSP00000435416:p.Cys44Phe						p.C44F	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	131	-			44			Helical; Name=1; (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.131G>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	3.977	-0.007297	0.07773	.	.	ENSG00000255012	ENST00000526538	T	0.01246	5.11	3.71	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.838721	0.09972	N	0.732060	T	0.00875	0.0029	N	0.02129	-0.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48670	-0.9015	10	0.72032	D	0.01	-10.4271	8.7167	0.34416	0.4085:0.5914:0.0:0.0	.	44	Q8NGP8	OR5M1_HUMAN	F	44	ENSP00000435416:C44F	ENSP00000435416:C44F	C	-	2	0	OR5M1	56137424	0.000000	0.05858	0.616000	0.29078	0.387000	0.30353	0.296000	0.19083	0.772000	0.33382	0.280000	0.19369	TGC		PASS	0.473	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		146	27	146	27	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207613	58207613	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:58207613G>T	ENST00000302572.2	-	1	33	c.12C>A	c.(10-12)aaC>aaA	p.N4K		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N4K(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCACCTCTGTGTTGTTCTCCA	0.443																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)AAC>AAA		olfactory receptor, family 5, subfamily B,							72.0	79.0	77.0					11																	58207613		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207613G>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.12C>A	11.37:g.58207613G>T	ENSP00000306657:p.Asn4Lys						p.N4K	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	12	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	4			Extracellular (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.12C>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	2.980	-0.210627	0.06140	.	.	ENSG00000172362	ENST00000302572	T	0.00512	6.89	4.87	-6.27	0.02026	.	1.248870	0.05669	N	0.588241	T	0.00300	0.0009	N	0.25201	0.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37798	-0.9690	10	0.28530	T	0.3	-8.7887	5.314	0.15845	0.1493:0.1128:0.5159:0.222	.	4	Q96R08	OR5BC_HUMAN	K	4	ENSP00000306657:N4K	ENSP00000306657:N4K	N	-	3	2	OR5B12	57964189	0.000000	0.05858	0.002000	0.10522	0.226000	0.24999	-1.466000	0.02355	-1.144000	0.02862	-0.302000	0.09304	AAC		PASS	0.443	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		124	79	124	79	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61545903	61545903	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:61545903C>G	ENST00000278836.5	+	14	2051	c.1955C>G	c.(1954-1956)aCc>aGc	p.T652S	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.T43S|MYRF_ENST00000265460.5_Missense_Mutation_p.T643S|MYRF_ENST00000327797.1_Missense_Mutation_p.T277S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	652	Peptidase S74.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T643S(1)									GTGAAAGACACCGGAGACATG	0.577																																						uc001nsc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1954-1956)ACC>AGC		myelin gene regulatory factor isoform 2							147.0	134.0	139.0					11																	61545903		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61545903C>G		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1955C>G	11.37:g.61545903C>G	ENSP00000278836:p.Thr652Ser					C11orf9_uc001nse.1_Missense_Mutation_p.T643S|C11orf9_uc010rll.1_Missense_Mutation_p.T43S	p.T652S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			14	2051	+			652					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1955C>G	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378929	0.42207	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797;ENST00000389602	T;T;T;T	0.45276	1.51;1.52;0.9;1.43	4.5	4.5	0.54988	.	0.186499	0.46442	D	0.000300	T	0.29288	0.0729	N	0.24115	0.695	0.40284	D	0.978427	B;B;B	0.15719	0.014;0.014;0.004	B;B;B	0.19391	0.016;0.025;0.004	T	0.09100	-1.0690	10	0.22706	T	0.39	-10.8127	13.377	0.60745	0.0:0.842:0.158:0.0	.	43;643;652	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	S	652;643;277;43	ENSP00000278836:T652S;ENSP00000265460:T643S;ENSP00000333261:T277S;ENSP00000374253:T43S	ENSP00000265460:T643S	T	+	2	0	C11orf9	61302479	0.629000	0.27146	0.911000	0.35937	0.937000	0.57800	1.388000	0.34442	2.239000	0.73571	0.561000	0.74099	ACC		PASS	0.577	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		147	35	147	35	---	---	---	---
ZFPL1	7542	broad.mit.edu	37	11	64855447	64855447	+	Missense_Mutation	SNP	C	C	T	rs35212666	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:64855447C>T	ENST00000294258.3	+	8	946	c.794C>T	c.(793-795)gCg>gTg	p.A265V	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	265					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A265V(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CTCCAGCGGGCGGGGCTGCTG	0.701													C|||	32	0.00638978	0.0234	0.0014	5008	,	,		15388	0.0		0.0	False		,,,				2504	0.0					uc001ocq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)GCG>GTG		zinc finger protein-like 1		C	VAL/ALA	81,4321	68.1+/-105.8	0,81,2120	47.0	48.0	48.0		794	4.9	1.0	11	dbSNP_126	48	0,8594		0,0,4297	yes	missense	ZFPL1	NM_006782.3	64	0,81,6417	TT,TC,CC		0.0,1.8401,0.6233	benign	265/311	64855447	81,12915	2201	4297	6498	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855447C>T		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.794C>T	11.37:g.64855447C>T	ENSP00000294258:p.Ala265Val						p.A265V	NM_006782	NP_006773	O95159	ZFPL1_HUMAN			8	959	+			265			Cytoplasmic (Potential).		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.794C>T	CCDS8092.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	C	14.47	2.545125	0.45280	0.018401	0.0	ENSG00000162300	ENST00000294258	T	0.41758	0.99	4.87	4.87	0.63330	.	0.208214	0.42821	D	0.000649	T	0.13372	0.0324	N	0.19112	0.55	0.80722	D	1	B	0.32350	0.366	B	0.21546	0.035	T	0.04915	-1.0918	10	0.17369	T	0.5	-6.4784	15.5379	0.76018	0.0:1.0:0.0:0.0	rs35212666	265	O95159	ZFPL1_HUMAN	V	265	ENSP00000294258:A265V	ENSP00000294258:A265V	A	+	2	0	ZFPL1	64612023	1.000000	0.71417	0.955000	0.39395	0.901000	0.52897	4.106000	0.57804	2.538000	0.85594	0.655000	0.94253	GCG		PASS	0.701	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		11	24	11	24	---	---	---	---
CAPN1	823	broad.mit.edu	37	11	64972295	64972295	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:64972295G>T	ENST00000527323.1	+	10	1547	c.1307G>T	c.(1306-1308)cGc>cTc	p.R436L	CAPN1_ENST00000533129.1_Missense_Mutation_p.R436L|CAPN1_ENST00000524773.1_Missense_Mutation_p.R436L|CAPN1_ENST00000533820.1_Missense_Mutation_p.R436L|CAPN1_ENST00000279247.6_Missense_Mutation_p.R436L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	436	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R436L(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CGCTTCGGCCGCGACATGGAG	0.667											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009yqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1306-1308)CGC>CTC		calpain 1, large subunit							37.0	43.0	41.0					11																	64972295		2027	4159	6186	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64972295G>T	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1307G>T	11.37:g.64972295G>T	ENSP00000431984:p.Arg436Leu		OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080	CAPN1_uc001odf.1_Missense_Mutation_p.R436L|CAPN1_uc001odg.1_Missense_Mutation_p.R436L|CAPN1_uc010roa.1_Missense_Mutation_p.R177L	p.R436L	NM_005186	NP_005177	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	11	1418	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	436			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1307G>T	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605571	0.46527	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	4.51	4.51	0.55191	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.398923	0.27214	N	0.020400	T	0.77184	0.4093	N	0.16790	0.44	0.34845	D	0.741103	B	0.23540	0.087	B	0.30105	0.111	T	0.77872	-0.2426	10	0.38643	T	0.18	.	8.8652	0.35282	0.1042:0.0:0.8958:0.0	.	436	P07384	CAN1_HUMAN	L	436;436;436;436;382;436	ENSP00000435272:R436L;ENSP00000431686:R436L;ENSP00000434176:R436L;ENSP00000279247:R436L;ENSP00000431984:R436L	ENSP00000259755:R382L	R	+	2	0	CAPN1	64728871	0.009000	0.17119	1.000000	0.80357	0.618000	0.37518	2.151000	0.42263	2.232000	0.73038	0.563000	0.77884	CGC		PASS	0.667	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			37	8	37	8	---	---	---	---
CABP4	57010	broad.mit.edu	37	11	67223114	67223114	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:67223114C>A	ENST00000325656.5	+	1	297	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	GPR152_ENST00000312457.2_5'Flank|CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	74					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)	p.P74T(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CAATAACCCTCCCAGCACTGG	0.701																																						uc001olo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)CCC>ACC		calcium binding protein 4							12.0	15.0	14.0					11																	67223114		2192	4281	6473	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223114C>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.220C>A	11.37:g.67223114C>A	ENSP00000324960:p.Pro74Thr					GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	p.P74T	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	297	+			74					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.220C>A	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559359	0.27827	.	.	ENSG00000175544	ENST00000325656	T	0.69685	-0.42	4.45	-1.39	0.08997	.	1.796380	0.03266	N	0.183955	T	0.44912	0.1316	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.36962	-0.9726	10	0.52906	T	0.07	-2.4094	4.8084	0.13331	0.0:0.4934:0.1981:0.3086	.	74	P57796	CABP4_HUMAN	T	74	ENSP00000324960:P74T	ENSP00000324960:P74T	P	+	1	0	CABP4	66979690	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.781000	0.04648	-0.091000	0.12440	-0.339000	0.08088	CCC		PASS	0.701	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			10	0	10	0	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70007316	70007316	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:70007316C>G	ENST00000355303.5	+	17	1933	c.1628C>G	c.(1627-1629)tCc>tGc	p.S543C	ANO1_ENST00000530676.1_Missense_Mutation_p.S397C|ANO1_ENST00000316296.5_Missense_Mutation_p.S485C|ANO1_ENST00000538023.1_Missense_Mutation_p.S543C|ANO1_ENST00000531349.1_Missense_Mutation_p.S252C|ANO1_ENST00000398543.2_Missense_Mutation_p.S397C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	543					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.S543C(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TACAGAATCTCCATGGCCGCC	0.607																																						uc001opj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1627-1629)TCC>TGC		anoctamin 1, calcium activated chloride channel							70.0	74.0	72.0					11																	70007316		2131	4219	6350	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007316C>G	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1628C>G	11.37:g.70007316C>G	ENSP00000347454:p.Ser543Cys					ANO1_uc001opk.1_Missense_Mutation_p.S485C|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.S252C	p.S543C	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			17	1933	+			543			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1628C>G	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188335	0.78789	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;D	0.88586	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-2.4	5.29	5.29	0.74685	.	0.301267	0.32218	N	0.006413	D	0.93585	0.7952	M	0.62088	1.915	0.58432	D	0.999996	B;D;B	0.89917	0.045;1.0;0.056	B;D;B	0.91635	0.111;0.999;0.118	D	0.92849	0.6295	9	.	.	.	.	18.9454	0.92620	0.0:1.0:0.0:0.0	.	252;485;543	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	C	543;543;397;301;485;397;252;94	ENSP00000347454:S543C;ENSP00000444689:S543C;ENSP00000381551:S397C;ENSP00000319477:S485C;ENSP00000435797:S397C;ENSP00000432843:S252C;ENSP00000435868:S94C	.	S	+	2	0	ANO1	69684964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.891000	0.56227	2.460000	0.83146	0.655000	0.94253	TCC		PASS	0.607	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		17	812	17	812	---	---	---	---
KCNE3	10008	broad.mit.edu	37	11	74168368	74168368	+	Missense_Mutation	SNP	G	G	A	rs542842233		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:74168368G>A	ENST00000310128.4	-	3	660	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.R81C	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	81					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.R81C(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TTGCGGGAGCGGGTGTATCCC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		21028	0.0		0.0	False		,,,				2504	0.001					uc001ovc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)CGC>TGC		potassium voltage-gated channel, Isk-related							57.0	51.0	53.0					11																	74168368		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168368G>A	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.241C>T	11.37:g.74168368G>A	ENSP00000310557:p.Arg81Cys					KCNE3_uc001ovd.2_Missense_Mutation_p.R81C	p.R81C	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN			3	588	-	Breast(11;2.86e-06)		81			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310128.4	37	c.241C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213247	0.39102	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.95103	-3.61;-3.61;-3.61	5.16	3.3	0.37823	.	0.000000	0.64402	D	0.000001	D	0.92244	0.7540	M	0.77313	2.365	0.53688	D	0.999977	B	0.16603	0.018	B	0.14578	0.011	D	0.88223	0.2898	10	0.87932	D	0	-33.0671	4.8764	0.13658	0.175:0.0:0.6569:0.1681	.	81	Q9Y6H6	KCNE3_HUMAN	C	81	ENSP00000310557:R81C;ENSP00000433633:R81C;ENSP00000431739:R81C	ENSP00000310557:R81C	R	-	1	0	KCNE3	73846016	1.000000	0.71417	0.996000	0.52242	0.108000	0.19459	2.972000	0.49256	0.761000	0.33130	-0.258000	0.10820	CGC		PASS	0.512	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		32	34	32	34	---	---	---	---
ME3	10873	broad.mit.edu	37	11	86209149	86209149	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:86209149A>G	ENST00000393324.3	-	5	814	c.561T>C	c.(559-561)gaT>gaC	p.D187D	ME3_ENST00000543262.1_Silent_p.D187D|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Silent_p.D125D|ME3_ENST00000359636.2_Silent_p.D187D|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	187					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.D187D(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				TGCGCTCCCCATCAGTCACCA	0.632																																						uc001pbz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(559-561)GAT>GAC		mitochondrial malic enzyme 3 precursor	NADH(DB00157)						83.0	75.0	78.0					11																	86209149		2202	4299	6501	SO:0001819	synonymous_variant	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86209149A>G	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.561T>C	11.37:g.86209149A>G						ME3_uc001pca.2_Silent_p.D187D|ME3_uc009yvk.2_Silent_p.D187D|ME3_uc010rtr.1_RNA	p.D187D	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			5	815	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	187					B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	c.561T>C	CCDS8277.1																																																																																				PASS	0.632	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			114	92	114	92	---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103907805	103907805	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:103907805A>G	ENST00000302259.3	+	1	498	c.255A>G	c.(253-255)ccA>ccG	p.P85P	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	85							aspartic-type endopeptidase activity (GO:0004190)	p.P85P(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCGGGCTCCAGGGCGTGCCC	0.617																																						uc001phr.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(253-255)CCA>CCG		DDI1, DNA-damage inducible 1, homolog 1							163.0	159.0	160.0					11																	103907805		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907805A>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.255A>G	11.37:g.103907805A>G						PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.P85P	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	498	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	85					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.255A>G	CCDS31660.1																																																																																				PASS	0.617	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		14	824	14	824	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108712165	108712165	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:108712165A>G	ENST00000322536.3	+	15	2338	c.2209A>G	c.(2209-2211)Aaa>Gaa	p.K737E	DDX10_ENST00000526794.1_Missense_Mutation_p.K737E	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	737					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.K737E(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAAATTTGACAAAGAAGAATA	0.363			T	NUP98	AML*																																	uc001pkm.2				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|prostate(1)	4						c.(2209-2211)AAA>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							87.0	89.0	88.0					11																	108712165		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108712165A>G	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2209A>G	11.37:g.108712165A>G	ENSP00000314348:p.Lys737Glu					DDX10_uc001pkl.1_Missense_Mutation_p.K737E	p.K737E	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	15	2274	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	737					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.2209A>G	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377222	0.82682	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.61040	0.14;0.19	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.72353	2.195	0.54753	D	0.999984	D;D	0.76494	0.999;0.996	D;P	0.80764	0.994;0.836	T	0.76724	-0.2854	10	0.87932	D	0	-19.3072	12.4587	0.55718	1.0:0.0:0.0:0.0	.	737;737	Q13206;E9PIF2	DDX10_HUMAN;.	E	737;643;737	ENSP00000314348:K737E;ENSP00000432032:K737E	ENSP00000314348:K737E	K	+	1	0	DDX10	108217375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.696000	0.74598	1.943000	0.56356	0.528000	0.53228	AAA		PASS	0.363	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		517	19	517	19	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124253019	124253019	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:124253019G>T	ENST00000375013.2	-	1	239	c.221C>A	c.(220-222)tCc>tAc	p.S74Y		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S74Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAAACAGAGGAGTAACAGAG	0.393																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)TCC>TAC		olfactory receptor, family 8, subfamily B,							135.0	127.0	129.0					11																	124253019		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253019G>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.221C>A	11.37:g.124253019G>T	ENSP00000364152:p.Ser74Tyr					OR8B2_uc001qab.3_RNA	p.S74Y	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	221	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	74			Helical; Name=2; (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.221C>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	g	11.50	1.656447	0.29425	.	.	ENSG00000204293	ENST00000375013	T	0.00840	5.63	4.2	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.04048	0.0113	H	0.97659	4.05	0.09310	N	1	D	0.53885	0.963	P	0.46585	0.521	T	0.22068	-1.0227	10	0.87932	D	0	.	7.4208	0.27071	0.0979:0.4655:0.4365:0.0	.	74	Q96RD0	OR8B2_HUMAN	Y	74	ENSP00000364152:S74Y	ENSP00000364152:S74Y	S	-	2	0	OR8B2	123758229	0.028000	0.19301	0.022000	0.16811	0.591000	0.36615	2.059000	0.41384	1.108000	0.41662	0.400000	0.26472	TCC		PASS	0.393	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		6	127	6	127	---	---	---	---
OR8B3	390271	broad.mit.edu	37	11	124267027	124267027	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:124267027G>T	ENST00000354597.3	-	1	237	c.221C>A	c.(220-222)tCc>tAc	p.S74Y		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S74Y(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAAACAGAGGAGTAACAGAG	0.373																																						uc010saj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(220-222)TCC>TAC		olfactory receptor, family 8, subfamily B,							87.0	93.0	91.0					11																	124267027		2201	4299	6500	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124267027G>T	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.221C>A	11.37:g.124267027G>T	ENSP00000346611:p.Ser74Tyr					OR8B2_uc001qab.3_Intron	p.S74Y	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	221	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	74			Helical; Name=2; (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.221C>A	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	7.969	0.748616	0.15710	.	.	ENSG00000196661	ENST00000354597	T	0.00840	5.63	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.07234	0.0183	H	0.97707	4.06	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.23940	-1.0174	10	0.87932	D	0	.	4.0008	0.09579	0.1603:0.242:0.5977:0.0	.	74	Q8NGG8	OR8B3_HUMAN	Y	74	ENSP00000346611:S74Y	ENSP00000346611:S74Y	S	-	2	0	OR8B3	123772237	0.000000	0.05858	0.997000	0.53966	0.054000	0.15201	0.585000	0.23879	2.237000	0.73441	0.637000	0.83480	TCC		PASS	0.373	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		64	29	64	29	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125505413	125505413	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:125505413G>T	ENST00000534070.1	+	7	958	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Missense_Mutation_p.D235Y|CHEK1_ENST00000524737.1_Missense_Mutation_p.D235Y|CHEK1_ENST00000544373.1_Missense_Mutation_p.D235Y|CHEK1_ENST00000438015.1_Missense_Mutation_p.D235Y|CHEK1_ENST00000427383.2_Missense_Mutation_p.D251Y|CHEK1_ENST00000428830.2_Missense_Mutation_p.D235Y	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	235	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.D235Y(1)|p.D235N(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GAAAAAAATCGATTCTGCTCC	0.353								Other conserved DNA damage response genes																														uc009zbo.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	central_nervous_system(3)|lung(2)|skin(1)	6						c.(703-705)GAT>TAT	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							88.0	95.0	93.0					11																	125505413		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505413G>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.703G>T	11.37:g.125505413G>T	ENSP00000435371:p.Asp235Tyr					CHEK1_uc010sbh.1_Missense_Mutation_p.D251Y|CHEK1_uc010sbi.1_Missense_Mutation_p.D235Y|CHEK1_uc001qcf.3_Missense_Mutation_p.D235Y|CHEK1_uc009zbp.2_Missense_Mutation_p.D235Y|CHEK1_uc001qcg.3_Missense_Mutation_p.D235Y|CHEK1_uc009zbq.2_Missense_Mutation_p.D235Y|CHEK1_uc001qci.1_RNA	p.D235Y	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	7	1595	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	235			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.703G>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873371	0.51695	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.84	2.97	0.34412	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.333064	0.30501	N	0.009486	T	0.41442	0.1159	L	0.52011	1.625	0.53688	D	0.999976	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.74674	0.965;0.976;0.98;0.984	T	0.18777	-1.0326	10	0.72032	D	0.01	-10.8448	10.748	0.46191	0.1574:0.0:0.8426:0.0	.	235;251;235;235	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	Y	235;251;235;235;235;235;156;235	ENSP00000388648:D235Y;ENSP00000391090:D251Y;ENSP00000412504:D235Y;ENSP00000442317:D235Y;ENSP00000435371:D235Y;ENSP00000432890:D235Y;ENSP00000434646:D156Y;ENSP00000278916:D235Y	ENSP00000278916:D235Y	D	+	1	0	CHEK1	125010623	1.000000	0.71417	0.587000	0.28692	0.785000	0.44390	5.007000	0.63984	0.578000	0.29487	0.637000	0.83480	GAT		PASS	0.353	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		75	26	75	26	---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10783902	10783902	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:10783902C>A	ENST00000075503.3	-	5	713	c.193G>T	c.(193-195)Gcc>Tcc	p.A65S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.A65S(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGAACAGGGGCAATGCCTAGA	0.527										HNSCC(73;0.22)																												uc001qys.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(193-195)GCC>TCC		serine/threonine/tyrosine kinase 1							63.0	68.0	66.0					12																	10783902		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10783902C>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.193G>T	12.37:g.10783902C>A	ENSP00000075503:p.Ala65Ser	HNSCC(73;0.22)					p.A65S	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			5	714	-			65					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.193G>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926509	0.34002	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867	T;T;T	0.77489	-1.1;0.8;0.79	4.9	1.83	0.25207	.	0.900462	0.09666	N	0.771819	T	0.69726	0.3143	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.52771	-0.8531	10	0.21540	T	0.41	-0.5012	6.1359	0.20233	0.0:0.6446:0.0:0.3554	.	65	Q6J9G0	STYK1_HUMAN	S	65	ENSP00000075503:A65S;ENSP00000446241:A65S;ENSP00000445391:A65S	ENSP00000075503:A65S	A	-	1	0	STYK1	10675169	0.001000	0.12720	0.001000	0.08648	0.281000	0.26958	0.600000	0.24104	0.269000	0.21961	0.655000	0.94253	GCC		PASS	0.527	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		153	23	153	23	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40722188	40722188	+	Missense_Mutation	SNP	C	C	G	rs199762345		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:40722188C>G	ENST00000298910.7	+	39	5741	c.5683C>G	c.(5683-5685)Cga>Gga	p.R1895G		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R1895G(1)|p.R1902G(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCAGTTTACCGAGCAGCCTA	0.313																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5683-5685)CGA>GGA		leucine-rich repeat kinase 2							68.0	71.0	70.0					12																	40722188		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40722188C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5683C>G	12.37:g.40722188C>G	ENSP00000298910:p.Arg1895Gly					LRRK2_uc009zjw.2_Missense_Mutation_p.R733G|LRRK2_uc001rmi.2_Missense_Mutation_p.R728G	p.R1895G	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			39	5804	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1895			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5683C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716765	0.68844	.	.	ENSG00000188906	ENST00000298910	D	0.94046	-3.34	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060026	0.64402	D	0.000005	D	0.96648	0.8906	M	0.87456	2.885	0.40535	D	0.980969	P;D	0.65815	0.938;0.995	P;D	0.68621	0.648;0.959	D	0.97273	0.9912	10	0.87932	D	0	.	13.5509	0.61732	0.1556:0.8444:0.0:0.0	.	1895;1895	Q17RV3;Q5S007	.;LRRK2_HUMAN	G	1895	ENSP00000298910:R1895G	ENSP00000298910:R1895G	R	+	1	2	LRRK2	39008455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.627000	0.37050	2.630000	0.89119	0.549000	0.68633	CGA		PASS	0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		23	172	23	172	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42853747	42853747	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:42853747C>T	ENST00000455697.1	-	8	2645	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R787Q|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R787Q|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R787Q|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R787Q|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	787					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R787Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCTCTGTGGCCGGGGTTGAGG	0.488																																						uc010skv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2359-2361)CGG>CAG		prickle homolog 1							128.0	133.0	132.0					12																	42853747		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853747C>T	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2360G>A	12.37:g.42853747C>T	ENSP00000401060:p.Arg787Gln					PRICKLE1_uc001rnl.2_Missense_Mutation_p.R787Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.R787Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R787Q|PRICKLE1_uc001rnk.1_5'Flank	p.R787Q	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2647	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		787					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.2360G>A	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394896	0.83011	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.57	5.57	0.84162	.	0.050490	0.85682	D	0.000000	D	0.87513	0.6196	M	0.65975	2.015	0.51012	D	0.999903	D	0.64830	0.994	P	0.50352	0.638	D	0.88238	0.2908	10	0.59425	D	0.04	-26.8135	14.7239	0.69329	0.1448:0.8552:0.0:0.0	.	787	Q96MT3	PRIC1_HUMAN	Q	787	ENSP00000401060:R787Q;ENSP00000398947:R787Q;ENSP00000448359:R787Q;ENSP00000345064:R787Q;ENSP00000449819:R787Q	ENSP00000345064:R787Q	R	-	2	0	PRICKLE1	41140014	0.816000	0.29132	0.986000	0.45419	0.993000	0.82548	4.442000	0.59988	2.775000	0.95449	0.655000	0.94253	CGG		PASS	0.488	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			37	255	37	255	---	---	---	---
OR10AD1	121275	broad.mit.edu	37	12	48596351	48596351	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:48596351C>G	ENST00000310248.2	-	1	819	c.725G>C	c.(724-726)tGt>tCt	p.C242S		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C242S(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GTGAGAGGCACAAGTAGAGAA	0.522																																						uc001rrl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)TGT>TCT		olfactory receptor, family 10, subfamily AD,							92.0	87.0	88.0					12																	48596351		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596351C>G		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.725G>C	12.37:g.48596351C>G	ENSP00000308689:p.Cys242Ser						p.C242S	NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN			1	725	-			242			Helical; Name=6; (Potential).		B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.725G>C	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183241	0.57800	.	.	ENSG00000172640	ENST00000310248	T	0.00369	7.74	4.83	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000703	T	0.01421	0.0046	H	0.95574	3.69	0.41114	D	0.985767	D	0.69078	0.997	D	0.80764	0.994	T	0.38178	-0.9673	10	0.72032	D	0.01	-5.1187	11.2468	0.49002	0.0:0.9101:0.0:0.0899	.	242	Q8NGE0	O10AD_HUMAN	S	242	ENSP00000308689:C242S	ENSP00000308689:C242S	C	-	2	0	OR10AD1	46882618	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	5.577000	0.67444	1.406000	0.46857	0.561000	0.74099	TGT		PASS	0.522	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			76	91	76	91	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49444120	49444120	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:49444120G>A	ENST00000301067.7	-	11	3250	c.3251C>T	c.(3250-3252)cCa>cTa	p.P1084L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1084	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P811L(1)|p.P1084L(1)									TTCCAAGGCTGGGCATTCAGG	0.612																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3250-3252)CCA>CTA		myeloid/lymphoid or mixed-lineage leukemia 2							30.0	33.0	32.0					12																	49444120		2026	4158	6184	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444120G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3251C>T	12.37:g.49444120G>A	ENSP00000301067:p.Pro1084Leu	HNSCC(34;0.089)					p.P1084L	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3251	-			1084			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3251C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461893	0.26248	.	.	ENSG00000167548	ENST00000301067	D	0.84370	-1.84	5.35	5.35	0.76521	.	0.000000	0.34725	N	0.003724	D	0.85013	0.5600	N	0.08118	0	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	D	0.88700	0.3215	10	0.87932	D	0	.	16.5963	0.84797	0.0:0.0:1.0:0.0	.	1084	O14686	MLL2_HUMAN	L	1084	ENSP00000301067:P1084L	ENSP00000301067:P1084L	P	-	2	0	MLL2	47730387	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	6.030000	0.70903	2.503000	0.84419	0.563000	0.77884	CCA		PASS	0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	12	17	12	---	---	---	---
HNRNPA1	3178	broad.mit.edu	37	12	54675662	54675662	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:54675662G>C	ENST00000340913.6	+	3	269	c.216G>C	c.(214-216)atG>atC	p.M72I	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.M72I|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.M72I|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.M72I|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	72	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.M72I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATGCAGCTATGAATGCAAGGC	0.463																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(214-216)ATG>ATC		heterogeneous nuclear ribonucleoprotein A1							54.0	54.0	54.0					12																	54675662		2094	4236	6330	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675662G>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.216G>C	12.37:g.54675662G>C	ENSP00000341826:p.Met72Ile					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zng.2_Missense_Mutation_p.M72I|HNRNPA1_uc009znh.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zni.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfn.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.M27I|HNRNPA1_uc009znj.1_Missense_Mutation_p.M27I	p.M72I	NM_031157	NP_112420	P09651	ROA1_HUMAN			3	320	+			72			Globular A domain.|RRM 1.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.216G>C	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234281	0.79688	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;3.24	3.77	3.77	0.43336	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000002	T	0.15955	0.0384	N	0.10945	0.07	0.58432	D	0.999998	P;P;P;P;B;B;P;D	0.58970	0.933;0.491;0.478;0.895;0.297;0.076;0.478;0.984	P;P;P;P;B;B;P;P	0.59171	0.853;0.475;0.475;0.629;0.356;0.103;0.475;0.845	T	0.15206	-1.0445	10	0.59425	D	0.04	.	13.9894	0.64357	0.0:0.0:1.0:0.0	.	50;72;72;72;72;72;72;72	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	I	72;72;72;72;72;72;72;72;72;91;27	ENSP00000448617:M72I;ENSP00000448229:M72I;ENSP00000341826:M72I;ENSP00000333504:M72I;ENSP00000447260:M72I;ENSP00000447782:M91I;ENSP00000448917:M27I	ENSP00000333504:M72I	M	+	3	0	HNRNPA1	52961929	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.688000	0.98670	2.084000	0.62774	0.306000	0.20318	ATG		PASS	0.463	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		65	181	65	181	---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56811541	56811541	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:56811541T>G	ENST00000553532.1	-	29	3736	c.3586A>C	c.(3586-3588)Aag>Cag	p.K1196Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.K1195Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.K693Q					timeless circadian clock									p.K1196Q(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGTTTCTTCTTTTGGATTCCT	0.458																																						uc001slf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|pancreas(1)	8						c.(3586-3588)AAG>CAG		timeless homolog							133.0	119.0	124.0					12																	56811541		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811541T>G	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3586A>C	12.37:g.56811541T>G	ENSP00000450607:p.Lys1196Gln						p.K1196Q	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			29	3754	-			1196						Missense_Mutation	SNP	ENST00000553532.1	37	c.3586A>C	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233608	0.39498	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.15603	3.09;3.09;2.41	4.8	3.65	0.41850	.	0.468375	0.21276	N	0.077234	T	0.20659	0.0497	M	0.62723	1.935	0.09310	N	1	P	0.38250	0.624	B	0.41860	0.368	T	0.11567	-1.0582	10	0.62326	D	0.03	-16.6084	7.1436	0.25570	0.0:0.1003:0.0:0.8997	.	1196	Q9UNS1	TIM_HUMAN	Q	1195;1196;693	ENSP00000229201:K1195Q;ENSP00000450607:K1196Q;ENSP00000450848:K693Q	ENSP00000229201:K1196Q	K	-	1	0	TIMELESS	55097808	0.966000	0.33281	0.196000	0.23383	0.663000	0.39108	2.055000	0.41345	0.977000	0.38444	0.533000	0.62120	AAG		PASS	0.458	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		166	119	166	119	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71029792	71029792	+	IGR	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:71029792T>C	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Missense_Mutation_p.K37R|PTPRB_ENST00000538174.2_5'UTR|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000551525.1_Missense_Mutation_p.K36R|PTPRB_ENST00000550358.1_Missense_Mutation_p.K37R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K37R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CACGACCACTTTCTCATTTTT	0.443																																						uc001swc.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(109-111)AAA>AGA		protein tyrosine phosphatase, receptor type, B							90.0	83.0	85.0					12																	71029792		1934	4137	6071	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029792T>C	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029792T>C						PTPRB_uc001swa.3_Missense_Mutation_p.K37R|PTPRB_uc001swd.3_Missense_Mutation_p.K36R|PTPRB_uc009zrr.1_Missense_Mutation_p.K37R|PTPRB_uc001swe.2_Missense_Mutation_p.K37R	p.K37R	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	154	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.110A>G	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	T	9.271	1.045676	0.19748	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525;ENST00000548122	T;T;T;T	0.28895	1.64;1.64;1.64;1.59	6.04	-8.22	0.01037	.	.	.	.	.	T	0.10252	0.0251	N	0.04508	-0.205	0.20074	N	0.999933	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.0;0.002;0.001;0.0;0.0	T	0.42766	-0.9432	9	0.09338	T	0.73	.	10.2342	0.43273	0.2617:0.5854:0.0669:0.086	.	37;37;36;37;37	Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.;.	R	37;37;37;36;37	ENSP00000334928:K37R;ENSP00000448058:K37R;ENSP00000448349:K36R;ENSP00000446982:K37R	ENSP00000334928:K37R	K	-	2	0	PTPRB	69316059	0.017000	0.18338	0.001000	0.08648	0.535000	0.34838	-0.591000	0.05753	-1.039000	0.03275	0.460000	0.39030	AAA		PASS	0.443	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		45	31	45	31	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75444647	75444647	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:75444647T>A	ENST00000549446.1	-	3	1818	c.1138A>T	c.(1138-1140)Aat>Tat	p.N380Y	KCNC2_ENST00000341669.3_Missense_Mutation_p.N380Y|KCNC2_ENST00000550433.1_Missense_Mutation_p.N380Y|KCNC2_ENST00000548513.1_Missense_Mutation_p.N380Y|KCNC2_ENST00000350228.2_Missense_Mutation_p.N380Y|KCNC2_ENST00000540018.1_Missense_Mutation_p.N380Y|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.N380Y|KCNC2_ENST00000298972.1_Missense_Mutation_p.N380Y	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	380					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.N380Y(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AAAAATTCATTAGTACTAGCT	0.458																																						uc001sxg.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1138-1140)AAT>TAT		Shaw-related voltage-gated potassium channel							54.0	52.0	53.0					12																	75444647		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444647T>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1138A>T	12.37:g.75444647T>A	ENSP00000449253:p.Asn380Tyr					KCNC2_uc009zry.2_Missense_Mutation_p.N380Y|KCNC2_uc001sxe.2_Missense_Mutation_p.N380Y|KCNC2_uc001sxf.2_Missense_Mutation_p.N380Y|KCNC2_uc010stw.1_Missense_Mutation_p.N380Y	p.N380Y	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1682	-			380			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1138A>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916193	0.73098	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98887	0.9623	M	0.62266	1.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.958	D;D;D;D;P	0.87578	0.996;0.998;0.979;0.997;0.815	D	0.99898	1.1154	10	0.72032	D	0.01	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	380;380;380;380;380	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	Y	380	ENSP00000448301:N380Y;ENSP00000449941:N380Y;ENSP00000449253:N380Y;ENSP00000340121:N380Y;ENSP00000298972:N380Y;ENSP00000319877:N380Y;ENSP00000438423:N380Y;ENSP00000376966:N380Y	ENSP00000298972:N380Y	N	-	1	0	KCNC2	73730914	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	8.013000	0.88655	2.323000	0.78572	0.528000	0.53228	AAT		PASS	0.458	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		41	99	41	99	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400393	78400393	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:78400393C>T	ENST00000397909.2	+	8	1248	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	NAV3_ENST00000266692.7_Missense_Mutation_p.P359S|NAV3_ENST00000536525.2_Missense_Mutation_p.P359S|NAV3_ENST00000228327.6_Missense_Mutation_p.P359S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	359						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P359S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCACCTCCCCCACACCATC	0.512										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1075-1077)CCC>TCC		neuron navigator 3							53.0	56.0	55.0					12																	78400393		2048	4194	6242	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400393C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1075C>T	12.37:g.78400393C>T	ENSP00000381007:p.Pro359Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P359S	p.P359S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1248	+			359					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1075C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.94|14.94	2.685640|2.685640	0.47991|0.47991	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T;T	.|0.61859	.|0.07;1.69;1.69;1.69;1.56	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|0.000000	0.40064|0.40064	U|U	0.001197|0.001197	T|T	0.66934|0.66934	0.2840|0.2840	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;P	.|0.67145	.|0.996;0.822	.|D;B	.|0.67382	.|0.951;0.359	T|T	0.59804|0.59804	-0.7385|-0.7385	6|10	.|0.21540	.|T	.|0.41	-16.9029|-16.9029	19.6355|19.6355	0.95731|0.95731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|359;359	.|Q8IVL0;Q8IVL0-2	.|NAV3_HUMAN;.	L|S	182|359	.|ENSP00000446628:P359S;ENSP00000446132:P359S;ENSP00000381007:P359S;ENSP00000228327:P359S;ENSP00000266692:P359S	.|ENSP00000228327:P359S	P|P	+|+	2|1	0|0	NAV3|NAV3	76924524|76924524	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.005000|0.005000	0.04900|0.04900	4.739000|4.739000	0.62080|0.62080	2.646000|2.646000	0.89796|0.89796	0.561000|0.561000	0.74099|0.74099	CCC|CCC		PASS	0.512	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		62	40	62	40	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	90013882	90013882	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:90013882C>G	ENST00000428670.3	-	11	2179	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L	ATP2B1_ENST00000348959.3_Missense_Mutation_p.V575L|ATP2B1_ENST00000359142.3_Missense_Mutation_p.V575L|ATP2B1_ENST00000261173.2_Missense_Mutation_p.V575L|ATP2B1_ENST00000393164.2_Missense_Mutation_p.V318L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	575					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V575L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAGGTGTAGACTTTGTACAGT	0.368																																						uc001tbh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1723-1725)GTC>CTC		plasma membrane calcium ATPase 1 isoform 1b							142.0	131.0	135.0					12																	90013882		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90013882C>G	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1723G>C	12.37:g.90013882C>G	ENSP00000392043:p.Val575Leu					ATP2B1_uc001tbg.2_Missense_Mutation_p.V575L|ATP2B1_uc001tbf.2_Missense_Mutation_p.V245L	p.V575L	NM_001682	NP_001673	P20020	AT2B1_HUMAN			10	1904	-			575			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1723G>C	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296218	0.95574	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	L	0.61036	1.89	0.80722	D	1	D;P;P	0.67145	0.996;0.94;0.94	D;P;P	0.76071	0.987;0.708;0.619	T	0.81322	-0.0985	9	.	.	.	-31.4029	19.5617	0.95375	0.0:1.0:0.0:0.0	.	575;575;575	P20020-3;P20020-2;P20020-6	.;.;.	L	575;575;575;575;318	ENSP00000261173:V575L;ENSP00000343599:V575L;ENSP00000352054:V575L;ENSP00000392043:V575L;ENSP00000376869:V318L	.	V	-	1	0	ATP2B1	88538013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.616000	0.88540	0.467000	0.42956	GTC		PASS	0.368	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		73	190	73	190	---	---	---	---
C12orf74	338809	broad.mit.edu	37	12	93100489	93100489	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:93100489C>T	ENST00000397833.3	+	2	533	c.82C>T	c.(82-84)Cca>Tca	p.P28S	C12orf74_ENST00000544406.2_Missense_Mutation_p.P28S	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	28								p.P28S(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GAGGAGCCTGCCAAAGAACCA	0.582																																						uc001tch.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)CCA>TCA		hypothetical protein LOC338809							33.0	36.0	35.0					12																	93100489		1906	4124	6030	SO:0001583	missense	338809							g.chr12:93100489C>T	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.82C>T	12.37:g.93100489C>T	ENSP00000380933:p.Pro28Ser					C12orf74_uc001tci.2_Missense_Mutation_p.P28S	p.P28S	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	312	+			28					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.82C>T	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	C	8.480	0.859587	0.17178	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.05	9.49E-4	0.14044	.	.	.	.	.	T	0.13072	0.0317	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.30268	-0.9984	8	0.15499	T	0.54	.	3.3226	0.07056	0.0:0.2707:0.2099:0.5193	.	28;28	F5H4P0;Q32Q52	.;CL074_HUMAN	S	28	.	ENSP00000380933:P28S	P	+	1	0	C12orf74	91624620	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	0.170000	0.16663	0.163000	0.19507	-0.367000	0.07326	CCA		PASS	0.582	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		18	45	18	45	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100444968	100444968	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:100444968C>A	ENST00000279907.7	-	16	3668	c.3456G>T	c.(3454-3456)agG>agT	p.R1152S	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R802S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1152								p.R1152S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTGCTGTGCCCCTGTAATTTG	0.353																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3454-3456)AGG>AGT		UHRF1 (ICBP90) binding protein 1-like isoform a							105.0	97.0	100.0					12																	100444968		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100444968C>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3456G>T	12.37:g.100444968C>A	ENSP00000279907:p.Arg1152Ser					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.R802S	p.R1152S	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			16	3685	-			1152					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3456G>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	1.321	-0.599572	0.03744	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09163	3.01;3.01	5.03	4.14	0.48551	.	0.419007	0.26776	N	0.022541	T	0.03651	0.0104	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30090	-0.9990	10	0.06891	T	0.86	-0.3807	6.5852	0.22616	0.0:0.7113:0.0:0.2887	.	1152	A0JNW5	UH1BL_HUMAN	S	1152;802	ENSP00000279907:R1152S;ENSP00000444824:R802S	ENSP00000279907:R1152S	R	-	3	2	UHRF1BP1L	98969099	1.000000	0.71417	0.743000	0.31040	0.064000	0.16182	1.621000	0.36986	1.114000	0.41781	0.650000	0.86243	AGG		PASS	0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		43	133	43	133	---	---	---	---
HCAR3	8843	broad.mit.edu	37	12	123200902	123200902	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:123200902C>A	ENST00000528880.2	-	1	537	c.383G>T	c.(382-384)cGg>cTg	p.R128L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	128					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R128L(3)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	ATGGACCACCCGGAAATACCT	0.562																																						uc001ucy.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(382-384)CGG>CTG		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						96.0	94.0	94.0					12																	123200902		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200902C>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.383G>T	12.37:g.123200902C>A	ENSP00000436714:p.Arg128Leu					GPR81_uc001ucw.1_Intron	p.R128L	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	538	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		128			Cytoplasmic (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.383G>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333909	0.24253	.	.	ENSG00000255398	ENST00000528880	T	0.35973	1.28	3.27	2.35	0.29111	.	.	.	.	.	T	0.47002	0.1422	L	0.47016	1.485	0.09310	N	1	D	0.65815	0.995	D	0.71414	0.973	T	0.22243	-1.0222	9	0.66056	D	0.02	.	5.6853	0.17799	0.0:0.7311:0.0:0.2689	.	128	E9PI97	.	L	128	ENSP00000436714:R128L	ENSP00000436714:R128L	R	-	2	0	HCAR3	121766855	0.000000	0.05858	0.985000	0.45067	0.075000	0.17131	0.267000	0.18552	0.463000	0.27118	0.184000	0.17185	CGG		PASS	0.562	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		68	41	68	41	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	125834780	125834780	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:125834780G>C	ENST00000299308.3	+	2	843	c.835G>C	c.(835-837)Gac>Cac	p.D279H		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	279						integral component of membrane (GO:0016021)		p.D279H(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTGAGCTTGGACGAGAATGT	0.567																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(835-837)GAC>CAC		transmembrane protein 132B							189.0	183.0	185.0					12																	125834780		1990	4162	6152	SO:0001583	missense	114795					integral to membrane		g.chr12:125834780G>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.835G>C	12.37:g.125834780G>C	ENSP00000299308:p.Asp279His						p.D279H	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	843	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		279			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.835G>C	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726359	0.89298	.	.	ENSG00000139364	ENST00000299308	T	0.12569	2.67	5.34	5.34	0.76211	.	.	.	.	.	T	0.39963	0.1098	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22034	-1.0228	9	0.87932	D	0	.	19.0585	0.93076	0.0:0.0:1.0:0.0	.	279	Q14DG7	T132B_HUMAN	H	279	ENSP00000299308:D279H	ENSP00000299308:D279H	D	+	1	0	TMEM132B	124400733	1.000000	0.71417	0.983000	0.44433	0.931000	0.56810	9.540000	0.98080	2.488000	0.83962	0.655000	0.94253	GAC		PASS	0.567	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		146	426	146	426	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130827577	130827577	+	Missense_Mutation	SNP	C	C	A	rs370704151		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:130827577C>A	ENST00000245255.3	+	3	393	c.121C>A	c.(121-123)Cca>Aca	p.P41T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	41					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.P41T(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCAGCCGCCACCAGCAGAGGG	0.478																																						uc001uik.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(121-123)CCA>ACA		piwi-like 1		C	THR/PRO,THR/PRO	0,4406		0,0,2203	62.0	61.0	61.0		121,121	1.9	0.0	12		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PIWIL1	NM_004764.4,NM_001190971.1	38,38	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign,benign	41/862,41/830	130827577	1,13005	2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827577C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.121C>A	12.37:g.130827577C>A	ENSP00000245255:p.Pro41Thr					PIWIL1_uc001uij.1_Missense_Mutation_p.P41T	p.P41T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	3	211	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		41					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.121C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	5.195	0.221550	0.09863	0.0	1.16E-4	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.03	1.87	0.25490	.	0.543619	0.19728	N	0.107434	T	0.13927	0.0337	L	0.45698	1.435	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.27434	-1.0074	10	0.19590	T	0.45	-4.5976	10.5904	0.45306	0.1331:0.5863:0.2806:0.0	.	41;41	Q96J94;Q96J94-2	PIWL1_HUMAN;.	T	41	ENSP00000245255:P41T;ENSP00000442086:P41T;ENSP00000440677:P41T;ENSP00000439096:P41T;ENSP00000444353:P41T;ENSP00000438582:P41T	ENSP00000245255:P41T	P	+	1	0	PIWIL1	129393530	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	0.568000	0.29311	0.591000	0.81541	CCA		PASS	0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			63	46	63	46	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130926407	130926407	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr12:130926407G>C	ENST00000261655.4	-	8	1602	c.1439C>G	c.(1438-1440)tCc>tGc	p.S480C	RIMBP2_ENST00000536002.1_Missense_Mutation_p.S388C|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S388C	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	480					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S480C(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCAACGTGGAGAACTCCAC	0.612																																						uc001uil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1438-1440)TCC>TGC		RIM-binding protein 2							36.0	39.0	38.0					12																	130926407		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926407G>C	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1439C>G	12.37:g.130926407G>C	ENSP00000261655:p.Ser480Cys					RIMBP2_uc001uim.2_Missense_Mutation_p.S388C|RIMBP2_uc001uin.1_Missense_Mutation_p.S139C	p.S480C	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1603	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	480					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1439C>G	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.910113	0.52439	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.31247	1.5;1.5;1.5	4.13	4.13	0.48395	Fibronectin, type III (1);	0.123853	0.56097	D	0.000025	T	0.42494	0.1205	L	0.41415	1.275	0.36191	D	0.850104	P;B;D	0.67145	0.881;0.0;0.996	P;B;P	0.61132	0.477;0.005;0.884	T	0.49890	-0.8891	10	0.33940	T	0.23	-30.5984	16.3969	0.83610	0.0:0.0:1.0:0.0	.	388;388;480	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	C	480;388;388;388	ENSP00000261655:S480C;ENSP00000440347:S388C;ENSP00000439159:S388C	ENSP00000261655:S480C	S	-	2	0	RIMBP2	129492360	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.969000	0.56816	1.818000	0.53035	0.537000	0.68136	TCC		PASS	0.612	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		53	38	53	38	---	---	---	---
B3GALTL	145173	broad.mit.edu	37	13	31891773	31891773	+	Missense_Mutation	SNP	G	G	T	rs375168040		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr13:31891773G>T	ENST00000343307.4	+	13	1284	c.1135G>T	c.(1135-1137)Ggc>Tgc	p.G379C		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	379					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G379C(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AGAGCGCTACGGCTACGGCCT	0.502																																						uc010aaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)GGC>TGC		beta 1,3-galactosyltransferase-like							115.0	110.0	111.0					13																	31891773		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31891773G>T	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1135G>T	13.37:g.31891773G>T	ENSP00000343002:p.Gly379Cys					B3GALTL_uc001utn.3_RNA	p.G379C	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	13	1245	+		Lung SC(185;0.0257)	379			Lumenal (Potential).		A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.1135G>T	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029480	0.93518	.	.	ENSG00000187676	ENST00000343307	T	0.64618	-0.11	4.93	4.93	0.64822	.	0.103551	0.64402	D	0.000003	D	0.83899	0.5354	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87955	0.2726	10	0.87932	D	0	-15.6584	18.5122	0.90921	0.0:0.0:1.0:0.0	.	379	Q6Y288	B3GLT_HUMAN	C	379	ENSP00000343002:G379C	ENSP00000343002:G379C	G	+	1	0	B3GALTL	30789773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.197000	0.94985	2.432000	0.82394	0.650000	0.86243	GGC		PASS	0.502	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		90	12	90	12	---	---	---	---
PHF11	51131	broad.mit.edu	37	13	50096223	50096223	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr13:50096223C>A	ENST00000378319.3	+	6	591	c.550C>A	c.(550-552)Ctc>Atc	p.L184I	PHF11_ENST00000357596.3_Missense_Mutation_p.L145I|PHF11_ENST00000488958.1_Missense_Mutation_p.L145I|PHF11_ENST00000460489.1_3'UTR	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L184I(1)		large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		GAAGAAACCCCTCTCAGGCAA	0.323																																						uc001vdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CTC>ATC		PHD finger protein 11 isoform a							76.0	84.0	81.0					13																	50096223		2203	4299	6502	SO:0001583	missense	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50096223C>A	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.550C>A	13.37:g.50096223C>A	ENSP00000367570:p.Leu184Ile					PHF11_uc001vdc.2_Missense_Mutation_p.L145I|PHF11_uc001vdd.2_RNA	p.L184I	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)	6	887	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	184					Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	c.550C>A	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191719	0.21954	.	.	ENSG00000136147	ENST00000378319;ENST00000496612;ENST00000357596;ENST00000442195;ENST00000488958	T;T;T;T;T	0.74526	-0.85;-0.41;-0.81;-0.8;-0.81	3.25	0.453	0.16639	.	0.987507	0.08200	N	0.982489	T	0.61060	0.2317	L	0.36672	1.1	0.09310	N	1	B	0.30793	0.295	B	0.30029	0.11	T	0.47649	-0.9101	10	0.33940	T	0.23	0.4873	5.4165	0.16376	0.0:0.4805:0.4012:0.1183	.	184	Q9UIL8	PHF11_HUMAN	I	184;116;145;145;145	ENSP00000367570:L184I;ENSP00000419229:L116I;ENSP00000350209:L145I;ENSP00000405227:L145I;ENSP00000417539:L145I	ENSP00000350209:L145I	L	+	1	0	PHF11	48994224	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.590000	0.05760	0.053000	0.16036	-0.657000	0.03884	CTC		PASS	0.323	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		55	9	55	9	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77748550	77748550	+	Silent	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr13:77748550T>A	ENST00000544440.2	-	37	5450	c.5433A>T	c.(5431-5433)acA>acT	p.T1811T	MYCBP2_ENST00000407578.2_Silent_p.T1849T|MYCBP2_ENST00000357337.6_Silent_p.T1811T|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.T1811T(2)|p.T1849T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCACTGAACTGTGGTCATTC	0.448																																						uc001vkf.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5431-5433)ACA>ACT		MYC binding protein 2							224.0	189.0	201.0					13																	77748550		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77748550T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5433A>T	13.37:g.77748550T>A						MYCBP2_uc010aev.2_Silent_p.T1215T	p.T1811T	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	38	5524	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1811						Silent	SNP	ENST00000544440.2	37	c.5433A>T																																																																																					PASS	0.448	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		143	18	143	18	---	---	---	---
ING1	3621	broad.mit.edu	37	13	111368196	111368196	+	Missense_Mutation	SNP	G	G	T	rs570284846		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr13:111368196G>T	ENST00000375774.3	+	1	868	c.406G>T	c.(406-408)Ggg>Tgg	p.G136W	CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	136					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G136W(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCACTTTCGGGCGCGGATT	0.746																																						uc001vri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)GGG>TGG		inhibitor of growth family, member 1 isoform D							9.0	12.0	11.0					13																	111368196		1998	4049	6047	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368196G>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.406G>T	13.37:g.111368196G>T	ENSP00000364929:p.Gly136Trp					CARS2_uc010tjm.1_5'Flank|uc001vre.2_5'Flank|ING1_uc001vrf.2_Intron|ING1_uc001vrg.2_Intron|ING1_uc001vrh.2_Intron	p.G136W	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	838	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		136					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.406G>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982512	0.53827	.	.	ENSG00000153487	ENST00000375774	T	0.58940	0.3	3.06	2.19	0.27852	.	.	.	.	.	T	0.56863	0.2014	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.41034	-0.9531	9	0.87932	D	0	-6.3379	5.3466	0.16012	0.1615:0.0:0.8385:0.0	.	136	Q9UK53	ING1_HUMAN	W	136	ENSP00000364929:G136W	ENSP00000364929:G136W	G	+	1	0	ING1	110166197	0.022000	0.18835	0.235000	0.24058	0.003000	0.03518	1.581000	0.36558	1.714000	0.51371	0.511000	0.50034	GGG		PASS	0.746	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		14	1	14	1	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824821	74824821	+	Silent	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr14:74824821G>T	ENST00000256362.4	+	2	1576	c.1335G>T	c.(1333-1335)cgG>cgT	p.R445R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	445					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.R445R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGGCCCTCCGGAGGAACCCCA	0.577																																						uc001xpw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1333-1335)CGG>CGT		hypothetical protein LOC55237							43.0	47.0	45.0					14																	74824821		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824821G>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1335G>T	14.37:g.74824821G>T							p.R445R	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1526	+			445					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.1335G>T	CCDS9830.1																																																																																				PASS	0.577	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		55	17	55	17	---	---	---	---
LRRC74A	145497	broad.mit.edu	37	14	77318716	77318716	+	Missense_Mutation	SNP	G	G	C	rs368622916		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr14:77318716G>C	ENST00000393774.3	+	8	860	c.736G>C	c.(736-738)Gtg>Ctg	p.V246L	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2												p.V246L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGCCATCAACGTGGGGCTCAC	0.527																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)GTG>CTG		hypothetical protein LOC145497							112.0	82.0	92.0					14																	77318716		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77318716G>C																												ENST00000393774.3:c.736G>C	14.37:g.77318716G>C	ENSP00000377369:p.Val246Leu					C14orf166B_uc010asn.1_Missense_Mutation_p.V6L|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	p.V246L	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	8	850	+			246						Missense_Mutation	SNP	ENST00000393774.3	37	c.736G>C	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	G	7.709	0.694787	0.15039	.	.	ENSG00000100565	ENST00000393774	T	0.52526	0.66	4.83	1.98	0.26296	.	0.627114	0.15959	N	0.236359	T	0.25938	0.0632	N	0.03224	-0.385	0.80722	D	1	P	0.37441	0.595	B	0.41571	0.36	T	0.03503	-1.1030	10	0.28530	T	0.3	.	8.887	0.35409	0.3215:0.0:0.6785:0.0	.	246	Q0VAA2	CN16B_HUMAN	L	246	ENSP00000377369:V246L	ENSP00000377369:V246L	V	+	1	0	C14orf166B	76388469	0.995000	0.38212	0.069000	0.20011	0.129000	0.20672	2.293000	0.43558	0.102000	0.17638	0.462000	0.41574	GTG		PASS	0.527	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			23	10	23	10	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28202871	28202871	+	Missense_Mutation	SNP	G	G	T	rs555501953		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:28202871G>T	ENST00000354638.3	-	16	1802	c.1647C>A	c.(1645-1647)caC>caA	p.H549Q	OCA2_ENST00000382996.2_Missense_Mutation_p.H549Q|OCA2_ENST00000353809.5_Missense_Mutation_p.H525Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	549			H -> Q (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.H549Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGTGAATCTCGTGCTTCAGTT	0.617									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5	GRCh37	CM990982	OCA2	M		c.(1645-1647)CAC>CAA		oculocutaneous albinism II							28.0	28.0	28.0					15																	28202871		2202	4300	6502	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202871G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1647C>A	15.37:g.28202871G>T	ENSP00000346659:p.His549Gln					OCA2_uc010ayv.2_Missense_Mutation_p.H525Q	p.H549Q	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1757	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	549		H -> Q (in OCA2).	Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1647C>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438923	0.63067	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90844	-2.74;-2.54;-2.73	5.8	-3.59	0.04583	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	L	0.49126	1.545	0.44619	D	0.997599	P;D	0.89917	0.752;1.0	P;D	0.83275	0.49;0.996	D	0.89500	0.3763	10	0.66056	D	0.02	-18.2831	12.736	0.57225	0.7881:0.0:0.2119:0.0	.	525;549	Q04671-2;Q04671	.;P_HUMAN	Q	549;525;549	ENSP00000346659:H549Q;ENSP00000261276:H525Q;ENSP00000372457:H549Q	ENSP00000261276:H525Q	H	-	3	2	OCA2	25876466	0.995000	0.38212	0.987000	0.45799	0.761000	0.43186	0.381000	0.20619	-0.433000	0.07286	-0.218000	0.12543	CAC		PASS	0.617	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		15	49	15	49	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40498502	40498502	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:40498502G>C	ENST00000287598.6	+	15	2047	c.1852G>C	c.(1852-1854)Gta>Cta	p.V618L	BUB1B_ENST00000412359.3_Missense_Mutation_p.V632L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	618			V -> A (in colorectal cancer; dbSNP:rs1801528). {ECO:0000269|PubMed:10366450, ECO:0000269|PubMed:17344846}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|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)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V618L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AGCTCGTTTTGTATCCACTCC	0.443			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(1852-1854)GTA>CTA		budding uninhibited by benzimidazoles 1 beta							94.0	96.0	95.0					15																	40498502		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40498502G>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1852G>C	15.37:g.40498502G>C	ENSP00000287598:p.Val618Leu					BUB1B_uc010ucl.1_Missense_Mutation_p.V486L	p.V618L	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	15	2064	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	618					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.1852G>C	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803618	0.70682	.	.	ENSG00000156970	ENST00000287598;ENST00000412359	T;T	0.15718	2.41;2.4	5.51	5.51	0.81932	.	0.391035	0.23252	N	0.050240	T	0.18882	0.0453	L	0.36672	1.1	0.26582	N	0.973363	B;B	0.24368	0.102;0.025	B;B	0.23852	0.049;0.022	T	0.12889	-1.0530	10	0.66056	D	0.02	-0.8963	19.3944	0.94601	0.0:0.0:1.0:0.0	.	632;618	O60566-3;O60566	.;BUB1B_HUMAN	L	618;632	ENSP00000287598:V618L;ENSP00000398470:V632L	ENSP00000287598:V618L	V	+	1	0	BUB1B	38285794	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.947000	0.75959	2.574000	0.86865	0.591000	0.81541	GTA		PASS	0.443	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			29	83	29	83	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48789500	48789500	+	Silent	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:48789500T>C	ENST00000316623.5	-	19	2711	c.2256A>G	c.(2254-2256)tcA>tcG	p.S752S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	752	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S752S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTTCATATCCTGAATTGCATA	0.383																																						uc001zwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2254-2256)TCA>TCG		fibrillin 1 precursor							128.0	120.0	123.0					15																	48789500		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48789500T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2256A>G	15.37:g.48789500T>C							p.S752S	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	19	2584	-		all_lung(180;0.00279)	752			EGF-like 11; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.2256A>G	CCDS32232.1																																																																																				PASS	0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			145	106	145	106	---	---	---	---
GABPB1	2553	broad.mit.edu	37	15	50570937	50570937	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:50570937T>G	ENST00000220429.8	-	9	1248	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	GABPB1_ENST00000380877.3_Missense_Mutation_p.E348D|GABPB1_ENST00000543881.1_Missense_Mutation_p.E284D			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	360					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E360D(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ATTTTTGTGCTTCTCGATTTG	0.363																																						uc001zyb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1078-1080)GAA>GAC		GA binding protein transcription factor, beta							156.0	139.0	145.0					15																	50570937		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50570937T>G	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.1080A>C	15.37:g.50570937T>G	ENSP00000220429:p.Glu360Asp					GABPB1_uc001zya.2_Missense_Mutation_p.E348D|GABPB1_uc010ufg.1_Missense_Mutation_p.E284D	p.E360D	NM_005254	NP_005245	Q06547	GABP1_HUMAN			9	1504	-			360					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.1080A>C	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.780968	0.70222	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881	T;D;T	0.83335	-0.79;-1.71;0.7	5.92	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	L	0.36672	1.1	0.80722	D	1	B;P	0.51933	0.034;0.949	B;B	0.44224	0.021;0.444	T	0.78316	-0.2251	10	0.72032	D	0.01	-16.04	11.2086	0.48784	0.0:0.0724:0.0:0.9276	.	360;348	Q06547;Q06547-2	GABP1_HUMAN;.	D	348;360;284	ENSP00000220429:E348D;ENSP00000370259:E360D;ENSP00000442500:E284D	ENSP00000220429:E348D	E	-	3	2	GABPB1	48358229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.824000	0.39072	1.074000	0.40909	0.528000	0.53228	GAA		PASS	0.363	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			10	264	10	264	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54825265	54825265	+	Splice_Site	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:54825265G>T	ENST00000260323.11	+	25	5696		c.e25+1		UNC13C_ENST00000545554.1_Splice_Site|UNC13C_ENST00000537900.1_Splice_Site	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)						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.?(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)		TGGACAAAACGTAAGTTTTTT	0.338																																						uc002ack.2																			2	Unknown(2)		lung(2)	ovary(5)|pancreas(2)	7						c.e24+1		unc-13 homolog C							62.0	63.0	63.0					15																	54825265		1804	4065	5869	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825265G>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.5696+1G>T	15.37:g.54825265G>T							p.T1899_splice	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	24	5696	+								Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	37	c.5696_splice	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723349	0.68959	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.83	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4659	0.75400	0.0:0.0:0.8612:0.1388	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13C	52612557	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.571000	0.74000	2.756000	0.94617	0.655000	0.94253	.		PASS	0.338	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Intron	7	7	7	7	---	---	---	---
DIS3L	115752	broad.mit.edu	37	15	66604126	66604126	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:66604126A>T	ENST00000319212.4	+	5	673	c.623A>T	c.(622-624)cAg>cTg	p.Q208L	DIS3L_ENST00000441424.2_Missense_Mutation_p.Q74L|DIS3L_ENST00000319194.5_Missense_Mutation_p.Q125L	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	208					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.Q125L(1)|p.Q208L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTATCCTTCAGTCTCGACGG	0.458																																						uc010ujm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(622-624)CAG>CTG		DIS3 mitotic control homolog (S.							132.0	131.0	131.0					15																	66604126		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66604126A>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.623A>T	15.37:g.66604126A>T	ENSP00000321711:p.Gln208Leu					DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.Q125L|DIS3L_uc002apq.2_Missense_Mutation_p.Q208L|DIS3L_uc010bho.2_Missense_Mutation_p.Q74L	p.Q208L	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			5	638	+			208					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.623A>T	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994590	0.54041	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212;ENST00000525109	T;T;T;T	0.46819	1.9;0.86;1.9;0.89	5.14	3.98	0.46160	.	0.168963	0.53938	D	0.000056	T	0.31765	0.0807	N	0.21373	0.66	0.50467	D	0.999872	B;B	0.17465	0.013;0.022	B;B	0.13407	0.008;0.009	T	0.05649	-1.0872	10	0.27785	T	0.31	-5.4125	10.4798	0.44687	0.8545:0.0:0.0:0.1455	.	208;208	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	L	125;74;208;74	ENSP00000321583:Q125L;ENSP00000388980:Q74L;ENSP00000321711:Q208L;ENSP00000432125:Q74L	ENSP00000321583:Q125L	Q	+	2	0	DIS3L	64391180	1.000000	0.71417	0.871000	0.34182	0.976000	0.68499	8.904000	0.92590	0.747000	0.32809	0.459000	0.35465	CAG		PASS	0.458	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		226	177	226	177	---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66727503	66727503	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:66727503G>A	ENST00000307102.5	+	2	750	c.219G>A	c.(217-219)gaG>gaA	p.E73E		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.E73E(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	AGATCAGTGAGCTGGGGGCTG	0.522																																						uc010bhq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)GAG>GAA		mitogen-activated protein kinase kinase 1							177.0	163.0	168.0					15																	66727503		2201	4299	6500	SO:0001819	synonymous_variant	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66727503G>A	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.219G>A	15.37:g.66727503G>A						MAP2K1_uc010ujp.1_Silent_p.E51E	p.E73E	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			2	694	+			73			Protein kinase.			Silent	SNP	ENST00000307102.5	37	c.219G>A	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165377	0.21538	.	.	ENSG00000169032	ENST00000425818	.	.	.	5.24	2.97	0.34412	.	.	.	.	.	T	0.60715	0.2290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58418	-0.7640	4	.	.	.	-32.3449	11.1813	0.48629	0.1821:0.0:0.8179:0.0	.	.	.	.	T	13	.	.	A	+	1	0	MAP2K1	64514557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.491000	0.66887	1.176000	0.42840	0.591000	0.81541	GCT		PASS	0.522	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			311	229	311	229	---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67681239	67681239	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:67681239A>G	ENST00000335894.4	+	12	1593	c.1527A>G	c.(1525-1527)aaA>aaG	p.K509K	IQCH_ENST00000546225.1_Silent_p.K257K|IQCH_ENST00000358767.3_Silent_p.K336K|IQCH_ENST00000360277.4_Silent_p.K261K	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	509								p.K509K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATTACAAAAAAATCCTAAGTC	0.398																																						uc002aqo.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1525-1527)AAA>AAG		IQ motif containing H isoform 1							147.0	138.0	141.0					15																	67681239		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67681239A>G	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1527A>G	15.37:g.67681239A>G						IQCH_uc002aqq.1_Silent_p.K257K|IQCH_uc002aqp.1_Silent_p.K261K	p.K509K	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	12	1574	+			509					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.1527A>G	CCDS32273.1																																																																																				PASS	0.398	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		158	111	158	111	---	---	---	---
PAQR5	54852	broad.mit.edu	37	15	69677203	69677203	+	Missense_Mutation	SNP	G	G	A	rs371623789		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:69677203G>A	ENST00000340965.3	+	5	1035	c.367G>A	c.(367-369)Gtc>Atc	p.V123I	PAQR5_ENST00000395407.2_Missense_Mutation_p.V123I|PAQR5_ENST00000561153.1_Missense_Mutation_p.V123I|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	123					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.V123I(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTATGGTGCCGTCAACCTCTT	0.562																																						uc002arz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(367-369)GTC>ATC		progestin and adipoQ receptor family member V			ILE/VAL,ILE/VAL	1,4399		0,1,2199	144.0	110.0	122.0		367,367	4.2	1.0	15		122	0,8596		0,0,4298	no	missense,missense	PAQR5	NM_017705.3,NM_001104554.1	29,29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	123/331,123/331	69677203	1,12995	2200	4298	6498	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69677203G>A		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.367G>A	15.37:g.69677203G>A	ENSP00000343877:p.Val123Ile					PAQR5_uc002asa.2_Missense_Mutation_p.V123I	p.V123I	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN			5	745	+			123			Helical; Name=3; (Potential).		Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.367G>A	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798963	0.31777	2.27E-4	0.0	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.12147	2.71;2.71	5.13	4.2	0.49525	.	0.119316	0.56097	D	0.000022	T	0.06826	0.0174	N	0.13198	0.31	0.40653	D	0.982058	B	0.32396	0.369	B	0.30029	0.11	T	0.11348	-1.0591	10	0.02654	T	1	-7.1947	12.6927	0.56985	0.0:0.0:0.8339:0.1661	.	123	Q9NXK6	MPRG_HUMAN	I	123	ENSP00000378803:V123I;ENSP00000343877:V123I	ENSP00000343877:V123I	V	+	1	0	PAQR5	67464257	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.604000	0.54081	1.139000	0.42245	0.561000	0.74099	GTC		PASS	0.562	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		62	37	62	37	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72170530	72170530	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:72170530G>T	ENST00000356056.5	-	31	6254	c.5782C>A	c.(5782-5784)Cta>Ata	p.L1928I	MYO9A_ENST00000564571.1_Missense_Mutation_p.L1928I|MYO9A_ENST00000444904.1_Missense_Mutation_p.L1909I|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1999I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1928	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.L1928I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTTCAAATAGTGCATAGAGG	0.363																																						uc002atl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5782-5784)CTA>ATA		myosin IXA							77.0	75.0	76.0					15																	72170530		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72170530G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5782C>A	15.37:g.72170530G>T	ENSP00000348349:p.Leu1928Ile					MYO9A_uc002atk.2_Missense_Mutation_p.L723I|MYO9A_uc002atm.1_Missense_Mutation_p.L724I	p.L1928I	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			31	6255	-			1928			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.5782C>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272661	0.80580	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.15139	2.45;2.45;2.45	5.21	5.21	0.72293	.	.	.	.	.	T	0.32406	0.0828	L	0.48642	1.525	0.49915	D	0.999836	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	T	0.00883	-1.1528	9	0.27082	T	0.32	.	12.9499	0.58394	0.0853:0.0:0.9147:0.0	.	1999;1928	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	I	1928;1999;1909	ENSP00000348349:L1928I;ENSP00000399162:L1999I;ENSP00000398250:L1909I	ENSP00000348349:L1928I	L	-	1	2	MYO9A	69957584	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	5.018000	0.64054	2.567000	0.86603	0.591000	0.81541	CTA		PASS	0.363	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		44	112	44	112	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72533854	72533854	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:72533854T>C	ENST00000569795.1	-	24	2522	c.1835A>G	c.(1834-1836)gAc>gGc	p.D612G	PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.D612G			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	612	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D612G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TATCTTGGGGTCCTGAGTATT	0.502																																						uc002auc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1834-1836)GAC>GGC		poly (ADP-ribose) polymerase family, member 6							110.0	105.0	107.0					15																	72533854		1974	4150	6124	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72533854T>C	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1835A>G	15.37:g.72533854T>C	ENSP00000456348:p.Asp612Gly					PARP6_uc002aua.2_Missense_Mutation_p.D458G|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA	p.D612G	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			23	2294	-			612			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.1835A>G	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334526	0.60853	.	.	ENSG00000137817	ENST00000287196	.	.	.	4.8	4.8	0.61643	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.145279	0.44688	U	0.000440	T	0.33556	0.0867	N	0.08118	0	0.80722	D	1	B;B	0.29531	0.247;0.048	B;B	0.28139	0.086;0.029	T	0.30446	-0.9978	9	0.52906	T	0.07	-28.7166	13.7203	0.62723	0.0:0.0:0.0:1.0	.	612;545	Q2NL67;A0PJ50	PARP6_HUMAN;.	G	612	.	ENSP00000287196:D612G	D	-	2	0	PARP6	70320908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.742000	0.85008	2.015000	0.59207	0.528000	0.53228	GAC		PASS	0.502	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		68	60	68	60	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73635889	73635889	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:73635889G>A	ENST00000261917.3	-	2	2039	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	RP11-272D12.1_ENST00000558742.1_RNA|RP11-272D12.1_ENST00000557981.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	349					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S349F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CACGGGGATGGAGGAAATGAA	0.527																																						uc002avp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)	6						c.(1045-1047)TCC>TTC		hyperpolarization activated cyclic							118.0	100.0	106.0					15																	73635889		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73635889G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1046C>T	15.37:g.73635889G>A	ENSP00000261917:p.Ser349Phe						p.S349F	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	2	2040	-			349			Helical; Name=Segment S3; (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1046C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790698	0.90367	.	.	ENSG00000138622	ENST00000261917	D	0.98400	-4.91	5.34	5.34	0.76211	Ion transport (1);	.	.	.	.	D	0.99168	0.9712	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99421	1.0933	9	0.72032	D	0.01	.	19.4036	0.94640	0.0:0.0:1.0:0.0	.	349	Q9Y3Q4	HCN4_HUMAN	F	349	ENSP00000261917:S349F	ENSP00000261917:S349F	S	-	2	0	HCN4	71422942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.678000	0.98647	2.657000	0.90304	0.655000	0.94253	TCC		PASS	0.527	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		57	49	57	49	---	---	---	---
C15orf59	388135	broad.mit.edu	37	15	74032896	74032896	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:74032896A>T	ENST00000569673.1	-	3	1448	c.244T>A	c.(244-246)Tct>Act	p.S82T	C15orf59_ENST00000379822.4_Missense_Mutation_p.S82T|C15orf59_ENST00000558834.1_Intron			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	82								p.S82T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACTGCTAGAGGTGCTGCTC	0.587																																						uc002avy.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(244-246)TCT>ACT		hypothetical protein LOC388135							147.0	151.0	150.0					15																	74032896		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032896A>T		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.244T>A	15.37:g.74032896A>T	ENSP00000457205:p.Ser82Thr						p.S82T	NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN			2	589	-			82						Missense_Mutation	SNP	ENST00000569673.1	37	c.244T>A	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956719	0.73902	.	.	ENSG00000205363	ENST00000379822	T	0.68479	-0.33	4.85	4.85	0.62838	.	0.117146	0.64402	D	0.000012	T	0.78407	0.4278	M	0.66939	2.045	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.76462	-0.2950	10	0.27785	T	0.31	.	14.107	0.65096	1.0:0.0:0.0:0.0	.	82	Q2T9L4	CO059_HUMAN	T	82	ENSP00000369150:S82T	ENSP00000369150:S82T	S	-	1	0	C15orf59	71819949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.508000	0.90525	1.802000	0.52723	0.459000	0.35465	TCT		PASS	0.587	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		124	349	124	349	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77906692	77906692	+	Silent	SNP	G	G	C	rs61737307	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:77906692G>C	ENST00000355300.6	-	2	1731	c.1557C>G	c.(1555-1557)ccC>ccG	p.P519P	LINGO1_ENST00000561030.1_Silent_p.P513P	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	519					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P513P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGGCCAGTCGGGCGAGTAGC	0.662																																						uc002bct.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1555-1557)CCC>CCG		leucine-rich repeat neuronal 6A							66.0	71.0	69.0					15																	77906692		2131	4225	6356	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906692G>C	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1557C>G	15.37:g.77906692G>C						LINGO1_uc002bcu.1_Silent_p.P513P	p.P519P	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1609	-			519			Extracellular (Potential).		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.1557C>G	CCDS45313.1																																																																																				PASS	0.662	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		19	60	19	60	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81601090	81601090	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr15:81601090G>A	ENST00000302987.4	+	18	3950	c.3950G>A	c.(3949-3951)aGg>aAg	p.R1317K	IL16_ENST00000394652.2_Missense_Mutation_p.R616K|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.R1316K			Q14005	IL16_HUMAN	interleukin 16	1317	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1317K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATTGTCATCAGGAGAAAAAGC	0.532																																						uc002bgh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(3949-3951)AGG>AAG		interleukin 16 isoform 2							90.0	77.0	82.0					15																	81601090		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81601090G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3950G>A	15.37:g.81601090G>A	ENSP00000302935:p.Arg1317Lys					IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.R1358K|IL16_uc002bgg.2_Missense_Mutation_p.R1316K|IL16_uc002bgj.2_Missense_Mutation_p.R810K|IL16_uc002bgk.2_Missense_Mutation_p.R616K	p.R1317K	NM_172217	NP_757366	Q14005	IL16_HUMAN			19	4326	+			1317			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3950G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	8.257	0.810399	0.16537	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394652	T;T;T	0.39056	1.1;1.1;1.1	5.19	0.47	0.16747	PDZ/DHR/GLGF (3);	0.125599	0.36002	N	0.002846	T	0.27169	0.0666	L	0.36672	1.1	0.31254	N	0.693749	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.008;0.002;0.004	T	0.30765	-0.9967	10	0.13470	T	0.59	.	9.7204	0.40300	0.5451:0.0:0.4549:0.0	.	809;1317;1316	Q6ZTT5;Q14005;Q14005-2	.;IL16_HUMAN;.	K	1316;1148;1317;616	ENSP00000378155:R1316K;ENSP00000302935:R1317K;ENSP00000378147:R616K	ENSP00000302935:R1317K	R	+	2	0	IL16	79388145	0.999000	0.42202	0.170000	0.22879	0.006000	0.05464	0.574000	0.23714	0.047000	0.15862	-0.137000	0.14449	AGG		PASS	0.532	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		63	52	63	52	---	---	---	---
HBA1	3039	broad.mit.edu	37	16	227341	227341	+	Silent	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:227341T>C	ENST00000320868.5	+	3	397	c.360T>C	c.(358-360)ccT>ccC	p.P120P	Y_RNA_ENST00000384514.1_RNA|HBA1_ENST00000397797.1_Silent_p.P88P	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN	hemoglobin, alpha 1	120					bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.P120P(1)		lung(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	AGTTCACCCCTGCGGTGCACG	0.657											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cfw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)CCT>CCC		alpha 1 globin	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						40.0	36.0	37.0					16																	227341		2195	4277	6472	SO:0001819	synonymous_variant	3040				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:227341T>C	AF349571	CCDS10399.1	16p13.3	2014-05-19			ENSG00000206172	ENSG00000206172			4823	protein-coding gene	gene with protein product		141800				1975428, 2649166	Standard	NM_000558		Approved	HBA-T3	uc002cfx.1	P69905	OTTHUMG00000060138	ENST00000320868.5:c.360T>C	16.37:g.227341T>C			OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA1_uc002cfx.1_Silent_p.P120P|HBA1_uc002cfy.1_Silent_p.P88P|HBQ1_uc002cfz.2_5'Flank	p.P120P	NM_000558	NP_000549	P69905	HBA_HUMAN			3	426	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	120					P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Silent	SNP	ENST00000320868.5	37	c.360T>C	CCDS10399.1																																																																																				PASS	0.657	HBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133459.1	NM_000558		14	21	14	21	---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	335151	335151	+	Missense_Mutation	SNP	G	G	C	rs377242875		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:335151G>C	ENST00000219406.6	+	5	764	c.746G>C	c.(745-747)cGc>cCc	p.R249P	PDIA2_ENST00000404312.1_Missense_Mutation_p.R246P|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	249					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)	p.R249P(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GATCTGTCGCGCTTCCTGGTC	0.657																																						uc002cgn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(745-747)CGC>CCC		protein disulfide isomerase A2 precursor							29.0	33.0	32.0					16																	335151		2103	4219	6322	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335151G>C	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.746G>C	16.37:g.335151G>C	ENSP00000219406:p.Arg249Pro					PDIA2_uc010bqt.1_Missense_Mutation_p.R94P|PDIA2_uc002cgo.1_Missense_Mutation_p.R249P	p.R249P	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			10	1854	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	249					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.746G>C	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	8.196	0.797042	0.16327	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.32988	1.43;1.43	3.99	1.82	0.25136	Thioredoxin-like fold (2);	0.664334	0.15371	N	0.265845	T	0.35422	0.0931	L	0.58101	1.795	0.09310	N	1	P	0.41710	0.76	P	0.48488	0.579	T	0.12041	-1.0563	10	0.52906	T	0.07	.	6.7977	0.23734	0.3138:0.0:0.6861:0.0	.	249	Q13087	PDIA2_HUMAN	P	249;218;246	ENSP00000219406:R249P;ENSP00000384410:R246P	ENSP00000219406:R249P	R	+	2	0	PDIA2	275152	0.041000	0.20044	0.976000	0.42696	0.155000	0.21991	0.318000	0.19504	0.894000	0.36317	0.457000	0.33378	CGC		PASS	0.657	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		35	48	35	48	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	708597	708597	+	Missense_Mutation	SNP	G	G	T	rs142498602	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:708597G>T	ENST00000293879.4	+	23	2839	c.2839G>T	c.(2839-2841)Gcc>Tcc	p.A947S	WDR90_ENST00000549091.1_Missense_Mutation_p.A947S|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	947								p.A947S(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCTGATTGCCGCCGGCCGGAC	0.672																																						uc002cii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2839-2841)GCC>TCC		WD repeat domain 90							37.0	43.0	41.0					16																	708597		2048	4170	6218	SO:0001583	missense	197335							g.chr16:708597G>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2839G>T	16.37:g.708597G>T	ENSP00000293879:p.Ala947Ser					WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.A474S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.A121S|WDR90_uc002cin.1_5'Flank	p.A947S	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			23	2893	+		Hepatocellular(780;0.0218)	947			WD 10.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2839G>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	9.192	1.026396	0.19512	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.39229	1.09;3.85	5.42	-2.26	0.06867	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.142750	0.45361	U	0.000369	T	0.15003	0.0362	N	0.13043	0.29	0.37817	D	0.928263	B;B	0.29253	0.239;0.186	B;B	0.25506	0.061;0.033	T	0.39143	-0.9628	10	0.02654	T	1	.	5.3021	0.15783	0.4131:0.0:0.4606:0.1264	.	947;947	F8VUX9;Q96KV7	.;WDR90_HUMAN	S	947	ENSP00000448122:A947S;ENSP00000293879:A947S	ENSP00000293879:A947S	A	+	1	0	WDR90	648598	0.955000	0.32602	0.000000	0.03702	0.001000	0.01503	1.320000	0.33666	-0.737000	0.04824	-0.140000	0.14226	GCC		PASS	0.672	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		65	67	65	67	---	---	---	---
TBL3	10607	broad.mit.edu	37	16	2026220	2026220	+	Missense_Mutation	SNP	C	C	A	rs368045313		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:2026220C>A	ENST00000568546.1	+	13	1325	c.1197C>A	c.(1195-1197)agC>agA	p.S399R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	399					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.S399R(1)		breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGGATCAGAGCGTCCGTATCT	0.632																																					Melanoma(118;616 1651 35077 38081 48633)	uc002cnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)AGC>AGA		transducin beta-like 3							107.0	77.0	87.0					16																	2026220		2198	4300	6498	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2026220C>A	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1197C>A	16.37:g.2026220C>A	ENSP00000454836:p.Ser399Arg					TBL3_uc002cnv.1_Missense_Mutation_p.S285R|TBL3_uc010bsb.1_Missense_Mutation_p.S188R|TBL3_uc010bsc.1_Missense_Mutation_p.S285R|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	p.S399R	NM_006453	NP_006444	Q12788	TBL3_HUMAN			13	1299	+			399			WD 8.		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.1197C>A	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816099	0.32145	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.99	-1.33	0.09172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.986537	0.08310	N	0.965574	T	0.59810	0.2221	L	0.45352	1.415	0.80722	D	1	P;D	0.54772	0.903;0.968	P;P	0.56612	0.778;0.802	T	0.61671	-0.7015	9	0.87932	D	0	-22.9957	7.6801	0.28509	0.0:0.3953:0.0:0.6047	.	161;399	A0JLS5;Q12788	.;TBL3_HUMAN	R	399	.	ENSP00000331815:S399R	S	+	3	2	TBL3	1966221	0.000000	0.05858	0.059000	0.19551	0.509000	0.34042	-1.438000	0.02416	-0.082000	0.12640	-0.254000	0.11334	AGC		PASS	0.632	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		45	44	45	44	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175301	51175301	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:51175301A>G	ENST00000251020.4	-	2	865	c.832T>C	c.(832-834)Tct>Cct	p.S278P	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S181P|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	278					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S278P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGTTGGCAGATGTTCGTAAA	0.493																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(832-834)TCT>CCT		sal-like 1 isoform a							90.0	90.0	90.0					16																	51175301		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175301A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.832T>C	16.37:g.51175301A>G	ENSP00000251020:p.Ser278Pro					SALL1_uc010vgr.1_Missense_Mutation_p.S181P|SALL1_uc010cbv.2_Intron	p.S278P	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	863	-		all_cancers(37;0.0322)	278					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.832T>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455460	0.43634	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08193	3.14;3.12	4.75	4.75	0.60458	.	0.110409	0.64402	D	0.000007	T	0.10208	0.0250	L	0.36672	1.1	0.47009	D	0.999285	P	0.49961	0.93	P	0.44860	0.462	T	0.07520	-1.0768	10	0.48119	T	0.1	-13.0118	14.4208	0.67183	1.0:0.0:0.0:0.0	.	278	Q9NSC2	SALL1_HUMAN	P	278;181;242	ENSP00000251020:S278P;ENSP00000407914:S181P	ENSP00000251020:S278P	S	-	1	0	SALL1	49732802	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.816000	0.55658	1.980000	0.57719	0.402000	0.26972	TCT		PASS	0.493	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		150	151	150	151	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65022115	65022115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:65022115G>T	ENST00000268603.4	-	7	1559	c.944C>A	c.(943-945)tCg>tAg	p.S315*	CDH11_ENST00000394156.3_Nonsense_Mutation_p.S315*|CDH11_ENST00000566827.1_Nonsense_Mutation_p.S189*	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S315*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATTTCAAACGATTCCATACC	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Nonsense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(943-945)TCG>TAG		cadherin 11, type 2 preproprotein							366.0	308.0	328.0					16																	65022115		2203	4300	6503	SO:0001587	stop_gained	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022115G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.944C>A	16.37:g.65022115G>T	ENSP00000268603:p.Ser315*	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Nonsense_Mutation_p.S315*|CDH11_uc010vin.1_Nonsense_Mutation_p.S189*	p.S315*	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1378	-		Ovarian(137;0.0973)	315			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Nonsense_Mutation	SNP	ENST00000268603.4	37	c.944C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	40	8.335839	0.98764	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	.	.	.	5.65	4.56	0.56223	.	0.375013	0.28140	N	0.016443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.7899	0.46426	0.9256:0.0:0.0744:0.0	.	.	.	.	X	315;315;298	.	ENSP00000268603:S315X	S	-	2	0	CDH11	63579616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.405000	0.59741	0.981000	0.38548	-0.247000	0.11927	TCG		PASS	0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		340	419	340	419	---	---	---	---
FUK	197258	broad.mit.edu	37	16	70505156	70505156	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:70505156C>A	ENST00000288078.6	+	13	1474	c.1242C>A	c.(1240-1242)ggC>ggA	p.G414G	FUK_ENST00000378912.2_Silent_p.G446G|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	414						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.G414G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCCTGCATGGCCGGGAGCTGC	0.682																																						uc002eyy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1240-1242)GGC>GGA		fucokinase							19.0	23.0	22.0					16																	70505156		2044	4170	6214	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70505156C>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1242C>A	16.37:g.70505156C>A						FUK_uc010cft.2_Silent_p.G446G|FUK_uc002eyz.2_5'UTR	p.G414G	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			13	1300	+		Ovarian(137;0.0694)	414					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.1242C>A	CCDS10891.2																																																																																				PASS	0.682	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		21	24	21	24	---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77228951	77228951	+	Missense_Mutation	SNP	G	G	T	rs35249267		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:77228951G>T	ENST00000248248.3	+	4	1545	c.1195G>T	c.(1195-1197)Gcc>Tcc	p.A399S	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.A253S|MON1B_ENST00000439557.2_Missense_Mutation_p.A290S	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	399								p.A399S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGTGCTCCTGCCTACAGCGT	0.642																																						uc002fez.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)GCC>TCC		MON1 homolog B							26.0	23.0	24.0					16																	77228951		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77228951G>T	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1195G>T	16.37:g.77228951G>T	ENSP00000248248:p.Ala399Ser					MON1B_uc010vnf.1_Missense_Mutation_p.A290S|MON1B_uc010vng.1_Missense_Mutation_p.A253S|MON1B_uc002ffa.2_Missense_Mutation_p.A279S	p.A399S	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			4	1525	+			399					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1195G>T	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278537	0.23307	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.7	2.52	0.30459	.	0.266289	0.37219	N	0.002189	T	0.22360	0.0539	N	0.01800	-0.715	0.80722	D	1	B;B;B;B	0.14012	0.0;0.009;0.009;0.001	B;B;B;B	0.18871	0.008;0.023;0.023;0.003	T	0.04621	-1.0938	9	0.18276	T	0.48	.	9.2238	0.37393	0.0:0.0:0.6057:0.3943	.	253;290;279;399	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	S	399;290;253	.	ENSP00000248248:A399S	A	+	1	0	MON1B	75786452	0.721000	0.28007	0.927000	0.36925	0.821000	0.46438	1.068000	0.30629	1.261000	0.44149	0.563000	0.77884	GCC		PASS	0.642	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		13	14	13	14	---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86601098	86601098	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr16:86601098G>A	ENST00000320354.4	+	1	242	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	53					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G53S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CGCGGGGATGGGCCGCTCCTA	0.677									Late-onset Hereditary Lymphedema																													uc002fjq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GGC>AGC		forkhead box C2							39.0	43.0	42.0					16																	86601098		2197	4299	6496	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601098G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.157G>A	16.37:g.86601098G>A	ENSP00000326371:p.Gly53Ser						p.G53S	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	242	+			53					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.157G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456035	0.63401	.	.	ENSG00000176692	ENST00000320354	D	0.94862	-3.54	4.14	4.14	0.48551	.	0.414923	0.19267	U	0.118518	D	0.90369	0.6986	L	0.33485	1.01	0.46774	D	0.999192	B	0.24533	0.105	B	0.21360	0.034	D	0.87631	0.2516	10	0.34782	T	0.22	.	15.2227	0.73327	0.0:0.0:1.0:0.0	.	53	Q99958	FOXC2_HUMAN	S	53	ENSP00000326371:G53S	ENSP00000326371:G53S	G	+	1	0	FOXC2	85158599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.149000	0.58091	2.145000	0.66743	0.650000	0.86243	GGC		PASS	0.677	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		37	50	37	50	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:7579485C>A	ENST00000269305.4	-	4	391	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*	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	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (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.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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)	GGAGCAGCCTCTGGCATTCTG	0.607		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		32	Substitution - Nonsense(10)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(7)|p.E68*(4)|p.G59fs*23(3)|p.E68G(2)|p.E68fs*55(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1)	lung(7)|breast(5)|liver(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|adrenal_gland(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(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.(202-204)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							112.0	119.0	116.0					17																	7579485		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7579485C>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.202G>T	17.37:g.7579485C>A	ENSP00000269305:p.Glu68*	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_Nonsense_Mutation_p.E68*|TP53_uc002gih.2_Nonsense_Mutation_p.E68*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.E68*|TP53_uc010cni.1_Nonsense_Mutation_p.E68*|TP53_uc002gij.2_Nonsense_Mutation_p.E68*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.E29*|TP53_uc010cnk.1_Nonsense_Mutation_p.E83*	p.E68*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	396	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	68		E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).	Interaction with WWOX.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.202G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762783	0.49574	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.66	0.49	0.16861	.	1.646800	0.04867	N	0.445250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	0.0106	5.9189	0.19070	0.0:0.6483:0.0:0.3517	.	.	.	.	X	68	.	ENSP00000269305:E68X	E	-	1	0	TP53	7520210	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.023000	0.13533	0.156000	0.19299	0.561000	0.74099	GAG		PASS	0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		206	36	206	36	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10400464	10400464	+	Silent	SNP	G	G	T	rs61730796	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:10400464G>T	ENST00000226207.5	-	33	4672	c.4578C>A	c.(4576-4578)cgC>cgA	p.R1526R	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1526					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1526R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTCATGGATGCGCTTTCCTC	0.378																																						uc002gmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4576-4578)CGC>CGA		myosin, heavy chain 1, skeletal muscle, adult							133.0	131.0	132.0					17																	10400464		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10400464G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4578C>A	17.37:g.10400464G>T						uc002gml.1_Intron	p.R1526R	NM_005963	NP_005954	P12882	MYH1_HUMAN			33	4672	-			1526			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.4578C>A	CCDS11155.1																																																																																				PASS	0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		80	12	80	12	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319347	21319347	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:21319347G>T	ENST00000583088.1	+	3	1588	c.693G>T	c.(691-693)caG>caT	p.Q231H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.Q231H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	231					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.Q231H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGCGCGCGCAGCTCATCAAGC	0.637										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(691-693)CAG>CAT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						90.0	71.0	77.0					17																	21319347		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319347G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.693G>T	17.37:g.21319347G>T	ENSP00000463778:p.Gln231His	Prostate(3;0.18)					p.Q231H	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1398	+			231			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.693G>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388024	0.61956	.	.	ENSG00000184185	ENST00000331718	D	0.94723	-3.5	5.32	4.35	0.52113	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	M	0.89214	3.015	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.97615	1.0132	10	0.87932	D	0	.	12.0653	0.53583	0.1444:0.0:0.8556:0.0	.	231	Q14500	IRK12_HUMAN	H	231	ENSP00000328150:Q231H	ENSP00000328150:Q231H	Q	+	3	2	KCNJ12	21259940	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.777000	0.62361	1.253000	0.44018	-0.140000	0.14226	CAG		PASS	0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	42	4	42	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27011603	27011603	+	Splice_Site	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:27011603G>T	ENST00000314616.6	+	18	2512		c.e18-1		SUPT6H_ENST00000347486.4_Splice_Site	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCCTCAGGCCTGTAGTC	0.478																																						uc002hby.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e18-1		suppressor of Ty 6 homolog							140.0	118.0	125.0					17																	27011603		2203	4300	6503	SO:0001630	splice_region_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27011603G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2230-1G>T	17.37:g.27011603G>T						SUPT6H_uc010crt.2_Splice_Site_p.A744_splice	p.A744_splice	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			18	2320	+	Lung NSC(42;0.00431)							A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Splice_Site	SNP	ENST00000314616.6	37	c.2230_splice	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500352	0.85176	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2272	0.89921	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUPT6H	24035730	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.359000	0.97115	2.749000	0.94314	0.655000	0.94253	.		PASS	0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	Intron	84	122	84	122	---	---	---	---
SPACA3	124912	broad.mit.edu	37	17	31324532	31324532	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:31324532T>A	ENST00000269053.3	+	4	642	c.572T>A	c.(571-573)cTg>cAg	p.L191Q	SPACA3_ENST00000580599.1_Missense_Mutation_p.L122Q|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.L88Q	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	191					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.L191Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCTCAGGGTCTGGGTTACTGG	0.507																																						uc002hhs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(571-573)CTG>CAG		sperm acrosome associated 3							137.0	139.0	138.0					17																	31324532		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31324532T>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.572T>A	17.37:g.31324532T>A	ENSP00000269053:p.Leu191Gln					SPACA3_uc010cte.1_RNA	p.L191Q	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		4	647	+			191			Extracellular (Potential).		Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.572T>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452568	0.63290	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.72505	-0.66;-0.66	4.4	4.4	0.53042	Lysozyme-like domain (1);	0.237424	0.26156	N	0.026015	D	0.83330	0.5231	M	0.86268	2.805	0.19945	N	0.999943	D	0.76494	0.999	D	0.69479	0.964	T	0.75918	-0.3148	10	0.87932	D	0	-2.8022	10.2096	0.43132	0.0:0.0:0.0:1.0	.	191	Q8IXA5	SACA3_HUMAN	Q	191;88;192;99	ENSP00000269053:L191Q;ENSP00000378134:L88Q	ENSP00000269053:L191Q	L	+	2	0	SPACA3	28348645	0.990000	0.36364	0.008000	0.14137	0.424000	0.31475	2.644000	0.46613	0.601000	0.29879	0.462000	0.41574	CTG		PASS	0.507	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		205	213	205	213	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35598928	35598928	+	Silent	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:35598928C>G	ENST00000394406.2	-	23	3052	c.2862G>C	c.(2860-2862)cgG>cgC	p.R954R	ACACA_ENST00000360679.3_Silent_p.R896R|ACACA_ENST00000353139.5_Silent_p.R991R|ACACA_ENST00000335166.5_Silent_p.R876R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	954					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R991R(1)|p.R896R(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTTCAGATTTCCGGTTCAATG	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(2860-2862)CGG>CGC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						140.0	125.0	130.0					17																	35598928		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35598928C>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2862G>C	17.37:g.35598928C>G						ACACA_uc002hnk.2_Silent_p.R876R|ACACA_uc002hnl.2_Silent_p.R896R|ACACA_uc002hnn.2_Silent_p.R954R|ACACA_uc002hno.2_Silent_p.R991R|ACACA_uc010cuz.2_Silent_p.R954R	p.R954R	NM_198836	NP_942133	Q13085	ACACA_HUMAN			23	3053	-		Breast(25;0.00157)|Ovarian(249;0.15)	954					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.2862G>C	CCDS11317.1																																																																																				PASS	0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		123	165	123	165	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37564252	37564252	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:37564252C>T	ENST00000300651.6	-	17	4445	c.4222G>A	c.(4222-4224)Gtg>Atg	p.V1408M	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.V1408M(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGCAAAGTCACTTTGGCTTTA	0.458										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4222-4224)GTG>ATG		mediator complex subunit 1							61.0	64.0	63.0					17																	37564252		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564252C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4222G>A	17.37:g.37564252C>T	ENSP00000300651:p.Val1408Met	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.V1236M|MED1_uc002hru.2_Intron	p.V1408M	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4434	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1408			Ser-rich.|Interaction with TP53.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4222G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712577	0.30322	.	.	ENSG00000125686	ENST00000300651	T	0.38077	1.16	4.34	4.34	0.51931	.	.	.	.	.	T	0.27384	0.0672	N	0.24115	0.695	0.52501	D	0.999957	B	0.30824	0.296	B	0.26864	0.074	T	0.14282	-1.0478	9	0.51188	T	0.08	-6.6673	17.4199	0.87512	0.0:1.0:0.0:0.0	.	1408	Q15648	MED1_HUMAN	M	1408	ENSP00000300651:V1408M	ENSP00000300651:V1408M	V	-	1	0	MED1	34817778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.772000	0.68889	2.400000	0.81607	0.561000	0.74099	GTG		PASS	0.458	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		72	220	72	220	---	---	---	---
KRT36	8689	broad.mit.edu	37	17	39645861	39645861	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:39645861C>T	ENST00000328119.6	-	1	255	c.256G>A	c.(256-258)Gag>Aag	p.E86K	KRT36_ENST00000393986.2_Missense_Mutation_p.E36K	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	86	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.E86K(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				AAGGAGCCCTCGCAGAACCAG	0.627																																						uc002hwt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GAG>AAG		keratin 36							82.0	81.0	81.0					17																	39645861		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39645861C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.256G>A	17.37:g.39645861C>T	ENSP00000329165:p.Glu86Lys						p.E86K	NM_003771	NP_003762	O76013	KRT36_HUMAN			1	256	-		Breast(137;0.000286)	86			Head.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.256G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006630	0.54361	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.82526	-1.62;-1.51	5.43	5.43	0.79202	.	0.000000	0.45126	D	0.000392	D	0.88522	0.6459	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.82012	-0.0668	10	0.62326	D	0.03	.	9.116	0.36758	0.1469:0.7788:0.0:0.0743	.	86	O76013	KRT36_HUMAN	K	36;86	ENSP00000377555:E36K;ENSP00000329165:E86K	ENSP00000329165:E86K	E	-	1	0	KRT36	36899387	0.265000	0.24102	0.963000	0.40424	0.570000	0.35934	4.459000	0.60102	2.539000	0.85634	0.563000	0.77884	GAG		PASS	0.627	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		4	103	4	103	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40880898	40880898	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:40880898G>T	ENST00000428826.2	-	3	183	c.62C>A	c.(61-63)tCt>tAt	p.S21Y	EZH1_ENST00000435174.1_De_novo_Start_OutOfFrame|EZH1_ENST00000585893.1_Missense_Mutation_p.S21Y|EZH1_ENST00000590078.1_Intron|EZH1_ENST00000415827.2_Missense_Mutation_p.S21Y|EZH1_ENST00000592743.1_Missense_Mutation_p.S21Y			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	21					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.S21Y(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CATGTATTCAGATTTCACTTT	0.353																																						uc002iaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(61-63)TCT>TAT		enhancer of zeste homolog 1							152.0	150.0	151.0					17																	40880898		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40880898G>T		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.62C>A	17.37:g.40880898G>T	ENSP00000404658:p.Ser21Tyr					EZH1_uc002iba.2_Missense_Mutation_p.S21Y|EZH1_uc010wgt.1_Intron|EZH1_uc010wgu.1_Missense_Mutation_p.S27Y|EZH1_uc010wgv.1_Missense_Mutation_p.S21Y|EZH1_uc010wgw.1_Translation_Start_Site|EZH1_uc010cyp.2_Translation_Start_Site|EZH1_uc010cyq.2_Missense_Mutation_p.S21Y|EZH1_uc010cys.2_Missense_Mutation_p.S21Y	p.S21Y	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	3	207	-		Breast(137;0.00104)	21					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.62C>A	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787780	0.90367	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827	D;D	0.88586	-2.4;-2.4	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.984	D	0.93749	0.7057	10	0.87932	D	0	.	18.3028	0.90169	0.0:0.0:1.0:0.0	.	21;27;21	Q92800-3;Q92800-2;Q92800	.;.;EZH1_HUMAN	Y	24;21;21	ENSP00000404658:S21Y;ENSP00000407869:S21Y	ENSP00000264646:S24Y	S	-	2	0	EZH1	38134424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.983000	0.93477	2.727000	0.93392	0.544000	0.68410	TCT		PASS	0.353	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		180	224	180	224	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61613156	61613156	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:61613156C>A	ENST00000583023.1	+	6	1239	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	KCNH6_ENST00000580652.1_Missense_Mutation_p.L410I|KCNH6_ENST00000581784.1_Missense_Mutation_p.L410I|KCNH6_ENST00000456941.2_Missense_Mutation_p.L410I|KCNH6_ENST00000314672.5_Missense_Mutation_p.L410I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	410					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L410I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CACCTTCGCGCTCATAGCGCA	0.632																																						uc002jay.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1228-1230)CTC>ATC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						94.0	83.0	87.0					17																	61613156		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613156C>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1228C>A	17.37:g.61613156C>A	ENSP00000463533:p.Leu410Ile					KCNH6_uc002jax.1_Missense_Mutation_p.L410I|KCNH6_uc010wpl.1_Missense_Mutation_p.L287I|KCNH6_uc010wpm.1_Missense_Mutation_p.L410I|KCNH6_uc002jaz.1_Missense_Mutation_p.L410I	p.L410I	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			6	1308	+			410			Helical; Name=Segment S5; (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1228C>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560942	0.27827	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98649	-5.05;-5.05	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	L	0.60012	1.86	0.47276	D	0.99937	D;P;D;D;D	0.76494	0.999;0.933;0.999;0.975;0.969	D;D;D;D;D	0.80764	0.994;0.928;0.99;0.934;0.918	D	0.99885	1.1120	10	0.87932	D	0	.	17.0722	0.86577	0.0:1.0:0.0:0.0	.	287;410;410;410;410	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	I	410	ENSP00000318212:L410I;ENSP00000396900:L410I	ENSP00000318212:L410I	L	+	1	0	KCNH6	58966888	1.000000	0.71417	0.994000	0.49952	0.153000	0.21895	7.651000	0.83577	2.244000	0.73946	0.313000	0.20887	CTC		PASS	0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		27	109	27	109	---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74157722	74157722	+	Missense_Mutation	SNP	C	C	T	rs374725944		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:74157722C>T	ENST00000269391.6	-	11	1091	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	RNF157_ENST00000319945.6_Missense_Mutation_p.R320Q	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	320							zinc ion binding (GO:0008270)	p.R923Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AAGCAGTGCCCGGAAGGCTGT	0.512																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)CGG>CAG		ring finger protein 157		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	95.0	95.0		959	4.9	1.0	17		95	0,8600		0,0,4300	no	missense	RNF157	NM_052916.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	320/680	74157722	1,13005	2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74157722C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.959G>A	17.37:g.74157722C>T	ENSP00000269391:p.Arg320Gln					RNF157_uc002jra.2_Missense_Mutation_p.R320Q	p.R320Q	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		11	1028	-			320					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.959G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293177	0.95546	2.27E-4	0.0	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.78246	-1.16;-1.16	5.9	4.91	0.64330	Zinc finger, RING/FYVE/PHD-type (1);	0.102610	0.64402	D	0.000003	T	0.79678	0.4487	N	0.13168	0.305	0.80722	D	1	D;P	0.89917	1.0;0.948	D;P	0.78314	0.991;0.752	D	0.83539	0.0095	10	0.62326	D	0.03	-26.5432	16.93	0.86188	0.0:0.8719:0.128:0.0	.	320;320	Q96PX1-2;Q96PX1	.;RN157_HUMAN	Q	320;320;282	ENSP00000269391:R320Q;ENSP00000321837:R320Q	ENSP00000269391:R320Q	R	-	2	0	RNF157	71669317	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.815000	0.86186	1.463000	0.47967	0.650000	0.86243	CGG		PASS	0.512	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		72	143	72	143	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78335564	78335564	+	Missense_Mutation	SNP	A	A	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:78335564A>C	ENST00000582970.1	+	39	11374	c.11231A>C	c.(11230-11232)cAg>cCg	p.Q3744P	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.Q3793P|RNF213_ENST00000336301.6_Missense_Mutation_p.Q1817P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3744					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1817P(1)|p.Q3793P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACATCTTTCAGCAGACTCCT	0.562																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(5449-5451)CAG>CCG		ring finger protein 213							64.0	62.0	62.0					17																	78335564		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78335564A>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11231A>C	17.37:g.78335564A>C	ENSP00000464087:p.Gln3744Pro					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Q199P	p.Q1817P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		14	5673	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.5450A>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	7.570	0.666581	0.14710	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	5.68	2.28	0.28536	.	0.315068	0.36703	N	0.002456	T	0.40791	0.1131	M	0.70595	2.14	0.27097	N	0.962705	D;B	0.63880	0.993;0.017	P;B	0.59487	0.858;0.006	T	0.24083	-1.0170	10	0.52906	T	0.07	.	8.6148	0.33824	0.7208:0.0:0.2792:0.0	.	3793;1817	C9JCP4;Q63HN8	.;RN213_HUMAN	P	3744;3793;1817	ENSP00000338218:Q1817P	ENSP00000338218:Q1817P	Q	+	2	0	RNF213	75950159	0.966000	0.33281	0.987000	0.45799	0.055000	0.15305	1.112000	0.31172	0.106000	0.17784	-0.290000	0.09829	CAG		PASS	0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		38	163	38	163	---	---	---	---
CHMP6	79643	broad.mit.edu	37	17	78972932	78972932	+	Silent	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:78972932G>T	ENST00000325167.5	+	8	663	c.585G>T	c.(583-585)gcG>gcT	p.A195A	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	195					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)	p.A195A(1)		lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCAGGCAGGCGGAGCTGGTGG	0.612																																						uc002jyw.3																			1	Substitution - coding silent(1)	p.A195V(1)	lung(1)	ovary(1)	1						c.(583-585)GCG>GCT		chromatin modifying protein 6							118.0	100.0	106.0					17																	78972932		2203	4300	6503	SO:0001819	synonymous_variant	79643				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	g.chr17:78972932G>T	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.585G>T	17.37:g.78972932G>T							p.A195A	NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		8	663	+	all_neural(118;0.101)		195	Missing: Membrane association; releases autoinhibition.				A8K7U0|Q53FU4|Q9HAE8	Silent	SNP	ENST00000325167.5	37	c.585G>T	CCDS11774.1																																																																																				PASS	0.612	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1	NM_024591		98	108	98	108	---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79430641	79430641	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:79430641C>T	ENST00000307745.7	+	32	7625	c.7625C>T	c.(7624-7626)gCg>gTg	p.A2542V	RP11-1055B8.8_ENST00000572590.1_RNA														p.A2542V(1)									CCCCAGAATGCGCTGTACCAG	0.667																																						uc002kaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7624-7626)GCG>GTG		BAH domain and coiled-coil containing 1							35.0	39.0	38.0					17																	79430641		2106	4195	6301	SO:0001583	missense	57597						DNA binding	g.chr17:79430641C>T																												ENST00000307745.7:c.7625C>T	17.37:g.79430641C>T	ENSP00000303486:p.Ala2542Val						p.A2542V	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		26	7625	+	all_neural(118;0.0804)|Melanoma(429;0.242)		2542			BAH.			Missense_Mutation	SNP	ENST00000307745.7	37	c.7625C>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.259590	0.80246	.	.	ENSG00000171282	ENST00000307745	D	0.85702	-2.02	4.28	4.28	0.50868	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.92202	0.7527	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.93451	0.6802	9	0.87932	D	0	.	15.6539	0.77118	0.0:1.0:0.0:0.0	.	2542	Q9P281	BAHC1_HUMAN	V	2542	ENSP00000303486:A2542V	ENSP00000303486:A2542V	A	+	2	0	AC110285.1	77045236	1.000000	0.71417	0.961000	0.40146	0.225000	0.24961	7.101000	0.76997	2.225000	0.72522	0.655000	0.94253	GCG		PASS	0.667	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				17	78	17	78	---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79915782	79915782	+	Missense_Mutation	SNP	C	C	G	rs201745358		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr17:79915782C>G	ENST00000409678.3	-	6	978	c.595G>C	c.(595-597)Gag>Cag	p.E199Q		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	199						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.E133Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AAGGCGTACTCGTCTGCAAGA	0.657																																						uc010wvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GAG>CAG		notum pectinacetylesterase homolog precursor							16.0	16.0	16.0					17																	79915782		2187	4290	6477	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79915782C>G	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.595G>C	17.37:g.79915782C>G	ENSP00000387310:p.Glu199Gln						p.E199Q	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	867	-	all_neural(118;0.0878)|Ovarian(332;0.12)		199					Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.595G>C	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382171	0.42207	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.51	4.51	0.55191	.	0.449732	0.25117	N	0.033010	T	0.48241	0.1489	N	0.24115	0.695	0.38138	D	0.938358	P	0.50443	0.935	P	0.50791	0.65	T	0.45116	-0.9283	9	0.17369	T	0.5	.	17.2028	0.86910	0.0:1.0:0.0:0.0	.	199	Q6P988	NOTUM_HUMAN	Q	199	.	ENSP00000387310:E199Q	E	-	1	0	NOTUM	77509072	0.939000	0.31865	0.395000	0.26283	0.312000	0.27988	4.298000	0.59067	2.057000	0.61298	0.491000	0.48974	GAG		PASS	0.657	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		15	17	15	17	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3079303	3079303	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:3079303C>A	ENST00000356443.4	-	34	4855	c.4522G>T	c.(4522-4524)Ggg>Tgg	p.G1508W	MYOM1_ENST00000261606.7_Missense_Mutation_p.G1412W|MYOM1_ENST00000400569.3_Missense_Mutation_p.G1508W	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1508					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.G1508W(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCAGTGACCCCGGTCTTAACT	0.473																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4522-4524)GGG>TGG		myomesin 1 isoform a							88.0	84.0	85.0					18																	3079303		1912	4116	6028	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3079303C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4522G>T	18.37:g.3079303C>A	ENSP00000348821:p.Gly1508Trp					MYOM1_uc002klq.2_Missense_Mutation_p.G1412W	p.G1508W	NM_003803	NP_003794	P52179	MYOM1_HUMAN			34	4856	-			1508					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.4522G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686894	0.68157	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.35605	1.3;1.3;1.3	5.79	5.79	0.91817	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66444	-0.5922	10	0.72032	D	0.01	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1412;1508	P52179-2;P52179	.;MYOM1_HUMAN	W	1508;1508;1412	ENSP00000348821:G1508W;ENSP00000383413:G1508W;ENSP00000261606:G1412W	ENSP00000261606:G1412W	G	-	1	0	MYOM1	3069303	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	7.461000	0.80834	2.735000	0.93741	0.563000	0.77884	GGG		PASS	0.473	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		66	112	66	112	---	---	---	---
LRRC30	339291	broad.mit.edu	37	18	7231852	7231852	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:7231852T>A	ENST00000383467.2	+	1	730	c.716T>A	c.(715-717)cTc>cAc	p.L239H		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	239								p.L239H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGCTGAACCTCAACAACAAT	0.577																																						uc010wzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(715-717)CTC>CAC		leucine rich repeat containing 30							67.0	71.0	70.0					18																	7231852		2086	4226	6312	SO:0001583	missense	339291							g.chr18:7231852T>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.716T>A	18.37:g.7231852T>A	ENSP00000372959:p.Leu239His						p.L239H	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	716	+			239			LRR 8.			Missense_Mutation	SNP	ENST00000383467.2	37	c.716T>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216903	0.58452	.	.	ENSG00000206422	ENST00000383467	T	0.42131	0.98	5.8	5.8	0.92144	.	0.224715	0.31020	N	0.008415	T	0.65913	0.2737	M	0.91561	3.22	0.37175	D	0.903205	D	0.64830	0.994	P	0.57371	0.819	T	0.78316	-0.2251	10	0.87932	D	0	.	11.9859	0.53147	0.0:0.069:0.0:0.931	.	239	A6NM36	LRC30_HUMAN	H	239	ENSP00000372959:L239H	ENSP00000372959:L239H	L	+	2	0	LRRC30	7221852	0.998000	0.40836	0.180000	0.23079	0.645000	0.38454	5.776000	0.68924	2.221000	0.72209	0.528000	0.53228	CTC		PASS	0.577	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		111	20	111	20	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8824917	8824917	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:8824917G>A	ENST00000306329.11	+	13	4366	c.4366G>A	c.(4366-4368)Gag>Aag	p.E1456K	SOGA2_ENST00000306285.7_Missense_Mutation_p.E462K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1096K|SOGA2_ENST00000359865.3_Missense_Mutation_p.E1137K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E462K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1096K														p.E1137K(1)									CGACAGGACCGAGGTGGGGCG	0.612																																						uc002knr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3409-3411)GAG>AAG		hypothetical protein LOC23255							64.0	59.0	61.0					18																	8824917		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8824917G>A																												ENST00000306329.11:c.4366G>A	18.37:g.8824917G>A	ENSP00000305027:p.Glu1456Lys					KIAA0802_uc002knq.2_Missense_Mutation_p.E1096K|KIAA0802_uc002kns.2_Missense_Mutation_p.E477K	p.E1137K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			15	3551	+			1447						Missense_Mutation	SNP	ENST00000306329.11	37	c.3409G>A		.	.	.	.	.	.	.	.	.	.	G	17.03	3.285499	0.59867	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.24	4.37	0.52481	.	0.268786	0.26800	N	0.022422	T	0.26231	0.0640	M	0.65498	2.005	0.42114	D	0.991397	P;P	0.42941	0.597;0.794	B;B	0.33890	0.051;0.172	T	0.16012	-1.0417	10	0.72032	D	0.01	-18.2042	13.6331	0.62206	0.075:0.0:0.925:0.0	.	1447;1137	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1158;1096;1137;1096;462	ENSP00000429556:E1096K;ENSP00000352927:E1137K;ENSP00000382924:E1096K;ENSP00000303670:E462K	ENSP00000303670:E462K	E	+	1	0	CCDC165	8814917	1.000000	0.71417	0.973000	0.42090	0.950000	0.60333	3.708000	0.54845	1.195000	0.43115	0.650000	0.86243	GAG		PASS	0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			39	93	39	93	---	---	---	---
ABHD3	171586	broad.mit.edu	37	18	19244139	19244139	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:19244139T>A	ENST00000289119.2	-	5	747	c.608A>T	c.(607-609)cAc>cTc	p.H203L	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Intron|RP11-13N13.5_ENST00000584148.1_RNA|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	203						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.H203L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						GTGTACATGGTGAATAACTGT	0.433																																						uc002ktl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(607-609)CAC>CTC		alpha/beta hydrolase domain containing protein							92.0	82.0	85.0					18																	19244139		2203	4300	6503	SO:0001583	missense	171586					integral to membrane	carboxylesterase activity	g.chr18:19244139T>A	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.608A>T	18.37:g.19244139T>A	ENSP00000289119:p.His203Leu					ABHD3_uc002ktm.2_Intron|ABHD3_uc010xao.1_RNA|ABHD3_uc002ktk.2_5'UTR	p.H203L	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN			5	748	-			203					B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	c.608A>T	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064930	0.55432	.	.	ENSG00000158201	ENST00000289119	T	0.70749	-0.51	6.01	6.01	0.97437	.	0.254163	0.46758	D	0.000279	T	0.62780	0.2456	L	0.33485	1.01	0.80722	D	1	B	0.16166	0.016	B	0.19666	0.026	T	0.56980	-0.7889	10	0.33141	T	0.24	-0.3842	16.5285	0.84344	0.0:0.0:0.0:1.0	.	203	Q8WU67	ABHD3_HUMAN	L	203	ENSP00000289119:H203L	ENSP00000289119:H203L	H	-	2	0	ABHD3	17498137	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	4.547000	0.60712	2.307000	0.77673	0.528000	0.53228	CAC		PASS	0.433	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			30	76	30	76	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22671936	22671936	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:22671936G>T	ENST00000361524.3	-	6	3916	c.3768C>A	c.(3766-3768)ttC>ttA	p.F1256L	ZNF521_ENST00000538137.2_Missense_Mutation_p.F1256L|ZNF521_ENST00000584787.1_Missense_Mutation_p.F1036L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1256					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.F1256L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGGACACTTGAAGGTGCCTC	0.498			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(3766-3768)TTC>TTA		zinc finger protein 521							124.0	104.0	111.0					18																	22671936		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22671936G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3768C>A	18.37:g.22671936G>T	ENSP00000354794:p.Phe1256Leu					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F1256L|ZNF521_uc002kvl.2_Missense_Mutation_p.F1036L	p.F1256L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			6	4015	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1256			C2H2-type 29.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3768C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297868	0.40694	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T	0.33865	1.39	5.98	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.37630	1.12	0.39594	D	0.969628	P	0.47253	0.892	P	0.55508	0.777	T	0.45906	-0.9229	10	0.72032	D	0.01	-32.8031	12.1492	0.54040	0.1802:0.0:0.8198:0.0	.	1256	Q96K83	ZN521_HUMAN	L	1256;1290;1256	ENSP00000354794:F1256L	ENSP00000354794:F1256L	F	-	3	2	ZNF521	20925934	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.293000	0.51779	1.540000	0.49301	-0.137000	0.14449	TTC		PASS	0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		61	45	61	45	---	---	---	---
CHST9	83539	broad.mit.edu	37	18	24496372	24496372	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:24496372A>G	ENST00000284224.8	-	6	1460	c.1183T>C	c.(1183-1185)Ttt>Ctt	p.F395L	CHST9_ENST00000581714.1_Missense_Mutation_p.F395L|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	395					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.F395L(1)|p.F310L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTATCCTTAAAGTTGGGAAAT	0.378																																						uc002kwd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1183-1185)TTT>CTT		GalNAc-4-sulfotransferase 2							145.0	134.0	138.0					18																	24496372		1832	4088	5920	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496372A>G	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1183T>C	18.37:g.24496372A>G	ENSP00000284224:p.Phe395Leu					C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.F310L|CHST9_uc002kwe.2_Missense_Mutation_p.F395L	p.F395L	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN			5	1381	-	all_lung(6;0.0145)|Ovarian(20;0.124)		395			Lumenal (Potential).		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.1183T>C	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220027	0.79464	.	.	ENSG00000154080	ENST00000284224	T	0.73047	-0.71	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.77579	0.4151	L	0.47190	1.495	0.80722	D	1	P	0.38677	0.642	P	0.53988	0.739	T	0.74247	-0.3727	10	0.33141	T	0.24	-21.3078	16.6406	0.85098	1.0:0.0:0.0:0.0	.	395	Q7L1S5	CHST9_HUMAN	L	395	ENSP00000284224:F395L	ENSP00000284224:F395L	F	-	1	0	CHST9	22750370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.161000	0.77505	2.326000	0.78906	0.533000	0.62120	TTT		PASS	0.378	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		56	393	56	393	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28911754	28911754	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:28911754C>T	ENST00000257192.4	+	6	820	c.608C>T	c.(607-609)cCt>cTt	p.P203L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.P203L(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGACAAGAACCTTCAGATTCA	0.333																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(607-609)CCT>CTT		desmoglein 1 preproprotein							80.0	78.0	79.0					18																	28911754		2203	4298	6501	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28911754C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.608C>T	18.37:g.28911754C>T	ENSP00000257192:p.Pro203Leu						p.P203L	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		6	820	+			203			Extracellular (Potential).|Cadherin 2.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.608C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160615	0.78226	.	.	ENSG00000134760	ENST00000257192	T	0.54279	0.58	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.76586	0.4008	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79688	-0.1699	10	0.87932	D	0	.	19.4944	0.95065	0.0:1.0:0.0:0.0	.	203	Q02413	DSG1_HUMAN	L	203	ENSP00000257192:P203L	ENSP00000257192:P203L	P	+	2	0	DSG1	27165752	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.470000	0.53100	2.597000	0.87782	0.655000	0.94253	CCT		PASS	0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		98	132	98	132	---	---	---	---
RIT2	6014	broad.mit.edu	37	18	40695447	40695447	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:40695447C>A	ENST00000326695.5	-	1	209	c.38G>T	c.(37-39)aGc>aTc	p.S13I	RIT2_ENST00000590910.1_Missense_Mutation_p.S13I|RIT2_ENST00000282028.4_Missense_Mutation_p.S13I|RIT2_ENST00000589109.1_Missense_Mutation_p.S13I	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	13					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S13I(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTGATGCGCTGCCCGGGGA	0.552																																						uc002lav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(37-39)AGC>ATC		Ras-like without CAAX 2							95.0	96.0	96.0					18																	40695447		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40695447C>A	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.38G>T	18.37:g.40695447C>A	ENSP00000321805:p.Ser13Ile					RIT2_uc010dnf.2_Missense_Mutation_p.S13I	p.S13I	NM_002930	NP_002921	Q99578	RIT2_HUMAN			1	211	-			13					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.38G>T	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512724	0.27123	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.71817	-0.56;-0.6	5.34	3.44	0.39384	.	0.167110	0.42294	D	0.000738	T	0.51856	0.1699	N	0.24115	0.695	0.20307	N	0.999913	B;B	0.15141	0.001;0.012	B;B	0.08055	0.002;0.003	T	0.47471	-0.9115	10	0.72032	D	0.01	.	5.3818	0.16196	0.1346:0.5296:0.2613:0.0745	.	13;13	Q99578-2;Q99578	.;RIT2_HUMAN	I	13	ENSP00000321805:S13I;ENSP00000282028:S13I	ENSP00000282028:S13I	S	-	2	0	RIT2	38949445	0.477000	0.25909	0.380000	0.26093	0.834000	0.47266	0.448000	0.21726	1.208000	0.43306	0.555000	0.69702	AGC		PASS	0.552	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		103	123	103	123	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61379905	61379905	+	RNA	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:61379905C>A	ENST00000382749.5	+	0	580				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T112K(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTCTACGGGACAAAGACGATG	0.438																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(334-336)ACA>AAA		serpin peptidase inhibitor, clade B, member 11							110.0	106.0	107.0					18																	61379905		1893	4129	6022			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61379905C>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61379905C>A						SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Intron	p.T112K	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			5	397	+		Esophageal squamous(42;0.129)	112					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37	c.335C>A		.	.	.	.	.	.	.	.	.	.	C	9.958	1.222117	0.22457	.	.	ENSG00000206072	ENST00000544088	D	0.81739	-1.53	5.44	3.6	0.41247	Serpin domain (3);	.	.	.	.	T	0.67850	0.2937	N	0.17901	0.54	0.19300	N	0.999977	B	0.24258	0.1	B	0.23419	0.046	T	0.59862	-0.7374	9	0.87932	D	0	.	8.5674	0.33547	0.2604:0.4693:0.2703:0.0	.	112	Q96P15	SPB11_HUMAN	K	112	ENSP00000441497:T112K	ENSP00000421854:T112K	T	+	2	0	SERPINB11	59530885	0.019000	0.18553	0.345000	0.25642	0.450000	0.32258	0.379000	0.20585	0.625000	0.30304	0.591000	0.81541	ACA		PASS	0.438	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		48	174	48	174	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66678275	66678275	+	Silent	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr18:66678275A>T	ENST00000360242.5	+	7	1485	c.1368A>T	c.(1366-1368)gcA>gcT	p.A456A	CCDC102B_ENST00000584156.1_Silent_p.A456A|CCDC102B_ENST00000319445.6_Silent_p.A456A	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	456								p.A456A(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAAATGAAGCAGAAGTAAAGA	0.393																																						uc002lkk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1366-1368)GCA>GCT		coiled-coil domain containing 102B							115.0	109.0	111.0					18																	66678275		2203	4300	6503	SO:0001819	synonymous_variant	79839							g.chr18:66678275A>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1368A>T	18.37:g.66678275A>T						CCDC102B_uc002lki.2_Silent_p.A456A	p.A456A	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			9	1591	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	456			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	c.1368A>T	CCDS11996.2																																																																																				PASS	0.393	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		86	72	86	72	---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7082909	7082909	+	Silent	SNP	A	A	G	rs370454440		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:7082909A>G	ENST00000439035.2	+	8	666	c.426A>G	c.(424-426)gcA>gcG	p.A142A	ZNF557_ENST00000414706.1_Silent_p.A149A|ZNF557_ENST00000252840.6_Silent_p.A149A			Q8N988	ZN557_HUMAN	zinc finger protein 557	142					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.A149A(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ATCTTGGAGCAACACTCAACG	0.383																																						uc002mgb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(424-426)GCA>GCG		zinc finger protein 557 isoform b							66.0	71.0	69.0					19																	7082909		2142	4258	6400	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082909A>G	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.426A>G	19.37:g.7082909A>G						ZNF557_uc002mga.2_Silent_p.A149A|ZNF557_uc002mgc.2_Silent_p.A149A	p.A142A	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	911	+			142					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.426A>G	CCDS45945.1																																																																																				PASS	0.383	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		96	23	96	23	---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7975984	7975984	+	Missense_Mutation	SNP	C	C	A	rs372642511	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:7975984C>A	ENST00000397979.3	+	7	849	c.795C>A	c.(793-795)agC>agA	p.S265R	MAP2K7_ENST00000397983.3_Missense_Mutation_p.S281R|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000545011.1_Missense_Mutation_p.S307R|MAP2K7_ENST00000397981.3_Missense_Mutation_p.S265R	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.S265R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TCGGCATCAGCGGCCGCCTGG	0.682																																						uc002mit.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11						c.(793-795)AGC>AGA		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						27.0	31.0	30.0					19																	7975984		2050	4202	6252	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975984C>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.795C>A	19.37:g.7975984C>A	ENSP00000381066:p.Ser265Arg					MAP2K7_uc002miv.2_Missense_Mutation_p.S265R|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S265R|MAP2K7_uc010dvv.2_Missense_Mutation_p.S140R	p.S265R	NM_145185	NP_660186	O14733	MP2K7_HUMAN			7	860	+			265			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.795C>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651333	0.88056	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.43	-4.74	0.03249	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	H	0.98068	4.14	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70432	-0.4873	10	0.87932	D	0	-7.6721	12.8661	0.57939	0.0:0.345:0.0:0.655	.	265;265	O14733-4;O14733	.;MP2K7_HUMAN	R	265;281;307;281;265	ENSP00000381068:S265R;ENSP00000381070:S281R;ENSP00000443946:S307R;ENSP00000381066:S265R	ENSP00000381066:S265R	S	+	3	2	MAP2K7	7881984	0.028000	0.19301	0.973000	0.42090	0.996000	0.88848	-0.728000	0.04925	-0.605000	0.05753	0.561000	0.74099	AGC		PASS	0.682	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			33	7	33	7	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9011492	9011492	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:9011492G>T	ENST00000397910.4	-	36	38944	c.38741C>A	c.(38740-38742)cCt>cAt	p.P12914H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12916	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.P12914H(1)|p.P66H(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						ATTCTTCTCAGGCCTGGGGAA	0.527																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38740-38742)CCT>CAT		mucin 16							115.0	102.0	106.0					19																	9011492		1891	4120	6011	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011492G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38741C>A	19.37:g.9011492G>T	ENSP00000381008:p.Pro12914His					MUC16_uc010xki.1_Intron	p.P12914H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			36	38945	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38741C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.392631	0.25118	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.44881	0.91	2.94	2.94	0.34122	.	.	.	.	.	T	0.48537	0.1505	L	0.55481	1.735	.	.	.	D	0.55605	0.972	P	0.53450	0.726	T	0.63637	-0.6592	8	0.87932	D	0	-0.9724	9.9835	0.41828	0.0:0.0:1.0:0.0	.	12914	B5ME49	.	H	12914;67	ENSP00000381008:P12914H	ENSP00000381008:P12914H	P	-	2	0	MUC16	8872492	0.206000	0.23470	0.002000	0.10522	0.011000	0.07611	3.839000	0.55835	1.589000	0.49982	0.305000	0.20034	CCT		PASS	0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		134	27	134	27	---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10132324	10132324	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:10132324C>A	ENST00000171214.1	+	6	1084	c.835C>A	c.(835-837)Cga>Aga	p.R279R	RDH8_ENST00000591589.1_Silent_p.R299R	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	279					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.R279R(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTGTATGTGCGAACGACCCA	0.632																																						uc002mmr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(835-837)CGA>AGA		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						113.0	107.0	109.0					19																	10132324		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10132324C>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.835C>A	19.37:g.10132324C>A							p.R279R	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		6	1084	+			279					Q9H838	Silent	SNP	ENST00000171214.1	37	c.835C>A																																																																																					PASS	0.632	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				42	8	42	8	---	---	---	---
FDX1L	112812	broad.mit.edu	37	19	10421531	10421531	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:10421531C>A	ENST00000393708.3	-	4	411	c.393G>T	c.(391-393)gaG>gaT	p.E131D	FDX1L_ENST00000541276.1_Missense_Mutation_p.E134D|FDX1L_ENST00000492239.1_5'UTR|ZGLP1_ENST00000403903.3_5'Flank|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.E131D|ZGLP1_ENST00000403352.1_5'Flank|FDX1L_ENST00000494368.1_5'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	131	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)	p.E131D(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CCACTCACCTCTCCTCGGGAG	0.622																																						uc002mny.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(391-393)GAG>GAT		ferredoxin 1-like precursor							49.0	40.0	43.0					19																	10421531		2203	4300	6503	SO:0001583	missense	112812				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	g.chr19:10421531C>A	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.393G>T	19.37:g.10421531C>A	ENSP00000377311:p.Glu131Asp					ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA	p.E131D	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)		4	412	-			131			2Fe-2S ferredoxin-type.		Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.393G>T	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851094	0.51270	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.8	3.75	0.43078	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	L	0.45352	1.415	0.80722	D	1	B	0.23937	0.094	B	0.28849	0.095	T	0.22312	-1.0220	9	0.02654	T	1	-8.6321	7.9607	0.30070	0.0:0.8088:0.0:0.1912	.	131	Q6P4F2	ADXL_HUMAN	D	134;131	.	ENSP00000377311:E131D	E	-	3	2	FDX1L	10282531	1.000000	0.71417	0.998000	0.56505	0.791000	0.44710	0.861000	0.27885	2.211000	0.71520	0.561000	0.74099	GAG		PASS	0.622	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			35	5	35	5	---	---	---	---
ILVBL	10994	broad.mit.edu	37	19	15234199	15234199	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:15234199C>T	ENST00000263383.3	-	3	463	c.324G>A	c.(322-324)atG>atA	p.M108I	ILVBL_ENST00000534378.1_Start_Codon_SNP_p.M1I|ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	108						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.M108I(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACAGGCGGGCCATAGCATCAG	0.602																																						uc002nam.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(322-324)ATG>ATA		ilvB (bacterial acetolactate synthase)-like							72.0	61.0	65.0					19																	15234199		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15234199C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.324G>A	19.37:g.15234199C>T	ENSP00000263383:p.Met108Ile					ILVBL_uc010dzw.2_Missense_Mutation_p.M1I|ILVBL_uc010dzx.1_Missense_Mutation_p.M108I	p.M108I	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			3	445	-			108					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.324G>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	7.185	0.590324	0.13812	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.28454	1.61	4.19	2.03	0.26663	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.060870	0.64402	D	0.000004	T	0.19208	0.0461	N	0.25825	0.765	0.26661	N	0.971906	B	0.06786	0.001	B	0.10450	0.005	T	0.15464	-1.0436	10	0.51188	T	0.08	-12.3841	7.5997	0.28069	0.0:0.7836:0.0:0.2164	.	108	A1L0T0	ILVBL_HUMAN	I	108	ENSP00000263383:M108I	ENSP00000263383:M108I	M	-	3	0	ILVBL	15095199	0.997000	0.39634	0.999000	0.59377	0.159000	0.22180	0.432000	0.21461	0.755000	0.32990	0.462000	0.41574	ATG		PASS	0.602	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		69	52	69	52	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839214	15839214	+	Missense_Mutation	SNP	G	G	T	rs113885700	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:15839214G>T	ENST00000305899.3	+	1	381	c.361G>T	c.(361-363)Gac>Tac	p.D121Y		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGGGCTACGACCGCTACGT	0.652																																						uc002nbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(361-363)GAC>TAC		olfactory receptor, family 10, subfamily H,							57.0	50.0	52.0					19																	15839214		2203	4297	6500	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839214G>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.361G>T	19.37:g.15839214G>T	ENSP00000306095:p.Asp121Tyr						p.D121Y	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	381	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		121			Cytoplasmic (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.361G>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	19.43	3.825200	0.71143	.	.	ENSG00000171942	ENST00000305899	T	0.18338	2.22	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.59824	0.2222	H	0.99379	4.54	0.48185	D	0.9996	D	0.89917	1.0	D	0.97110	1.0	T	0.76334	-0.2997	10	0.87932	D	0	.	12.0462	0.53480	0.0:0.0:1.0:0.0	.	121	O60403	O10H2_HUMAN	Y	121	ENSP00000306095:D121Y	ENSP00000306095:D121Y	D	+	1	0	OR10H2	15700214	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.979000	0.76154	1.371000	0.46172	0.430000	0.28490	GAC		PASS	0.652	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			36	84	36	84	---	---	---	---
KCNN1	3780	broad.mit.edu	37	19	18100568	18100568	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:18100568T>C	ENST00000222249.9	+	8	1533	c.1214T>C	c.(1213-1215)aTc>aCc	p.I405T		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	405	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.I422T(2)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	ACGTGGCTCATCTACAAACAT	0.522																																						uc002nht.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1213-1215)ATC>ACC		potassium intermediate/small conductance							124.0	127.0	126.0					19																	18100568		1998	4206	6204	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18100568T>C	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1214T>C	19.37:g.18100568T>C	ENSP00000476519:p.Ile405Thr					KCNN1_uc010xqa.1_Missense_Mutation_p.I405T	p.I405T	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			8	1524	+			405			Calmodulin-binding (By similarity).		Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.1214T>C		.	.	.	.	.	.	.	.	.	.	T	21.3	4.123327	0.77436	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.61	4.61	0.57282	Calmodulin-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	M	0.84433	2.695	0.58432	D	0.999997	P	0.42961	0.795	P	0.52957	0.714	T	0.79713	-0.1688	9	0.87932	D	0	-30.9818	11.9669	0.53040	0.0:0.0:0.0:1.0	.	405	Q92952	KCNN1_HUMAN	T	422;405	.	ENSP00000222249:I422T	I	+	2	0	KCNN1	17961568	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.491000	0.81471	1.707000	0.51288	0.459000	0.35465	ATC		PASS	0.522	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		149	22	149	22	---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19762598	19762598	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:19762598C>T	ENST00000357324.6	-	17	2261	c.2235G>A	c.(2233-2235)atG>atA	p.M745I	ATP13A1_ENST00000291503.5_Missense_Mutation_p.M627I|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	745						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.M745I(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTCCCGTGATCATGACCACCT	0.597																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(2233-2235)ATG>ATA		ATPase type 13A1							115.0	85.0	95.0					19																	19762598		2203	4299	6502	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19762598C>T	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2235G>A	19.37:g.19762598C>T	ENSP00000349877:p.Met745Ile					ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Missense_Mutation_p.M113I|ATP13A1_uc002nng.2_Missense_Mutation_p.M627I	p.M745I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			17	2263	-			745			Cytoplasmic (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.2235G>A	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628753	0.87560	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.60040	0.22;0.22	4.55	4.55	0.56014	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.88450	2.955	0.80722	D	1	D;D	0.56746	0.977;0.971	D;P	0.66979	0.948;0.504	T	0.82157	-0.0596	10	0.52906	T	0.07	-46.3225	14.7896	0.69830	0.0:1.0:0.0:0.0	.	745;627	Q9HD20;Q9HD20-2	AT131_HUMAN;.	I	627;745	ENSP00000291503:M627I;ENSP00000349877:M745I	ENSP00000291503:M627I	M	-	3	0	ATP13A1	19623598	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.376000	0.79658	2.082000	0.62665	0.563000	0.77884	ATG		PASS	0.597	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		36	9	36	9	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23542464	23542464	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:23542464T>C	ENST00000300619.7	-	4	3522	c.3317A>G	c.(3316-3318)tAc>tGc	p.Y1106C	ZNF91_ENST00000397082.2_Missense_Mutation_p.Y1074C|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1106					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y1106C(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TCCACATTTGTAGGGTTTCTC	0.398																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3316-3318)TAC>TGC		zinc finger protein 91							67.0	73.0	71.0					19																	23542464		2133	4265	6398	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542464T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3317A>G	19.37:g.23542464T>C	ENSP00000300619:p.Tyr1106Cys					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.Y1074C	p.Y1106C	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	3430	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1106			C2H2-type 35.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3317A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	9.751	1.167502	0.21621	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.69306	-0.39;-0.39	1.49	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78848	0.4348	M	0.83953	2.67	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63902	-0.6532	9	0.87932	D	0	.	4.5681	0.12196	0.2869:0.0:0.0:0.7131	.	1074;1106	Q05481-2;Q05481	.;ZNF91_HUMAN	C	1106;1074	ENSP00000300619:Y1106C;ENSP00000380272:Y1074C	ENSP00000300619:Y1106C	Y	-	2	0	ZNF91	23334304	0.004000	0.15560	0.008000	0.14137	0.358000	0.29455	0.444000	0.21661	0.660000	0.30964	0.165000	0.16767	TAC		PASS	0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		100	19	100	19	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33698431	33698431	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:33698431T>G	ENST00000253193.7	+	7	2465	c.2263T>G	c.(2263-2265)Tgc>Ggc	p.C755G	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	755					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.C755G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCCGCCCCCCTGCTCCCCAAT	0.687																																						uc010edh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2263-2265)TGC>GGC		low density lipoprotein receptor-related protein							11.0	13.0	12.0					19																	33698431		2151	4218	6369	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33698431T>G	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2263T>G	19.37:g.33698431T>G	ENSP00000253193:p.Cys755Gly					LRP3_uc002nuk.3_Missense_Mutation_p.C629G	p.C755G	NM_002333	NP_002324	O75074	LRP3_HUMAN			7	2356	+	Esophageal squamous(110;0.137)		755			Cytoplasmic (Potential).		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.2263T>G	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	T	0.138	-1.105572	0.01828	.	.	ENSG00000130881	ENST00000253193	D	0.86097	-2.07	4.7	3.62	0.41486	.	0.346096	0.25001	N	0.033914	T	0.68943	0.3056	N	0.19112	0.55	0.32533	N	0.53465	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.63097	-0.6713	10	0.22109	T	0.4	-29.9906	3.8363	0.08896	0.0:0.1166:0.2233:0.66	.	755;673	O75074;B7ZAJ9	LRP3_HUMAN;.	G	755	ENSP00000253193:C755G	ENSP00000253193:C755G	C	+	1	0	LRP3	38390271	0.016000	0.18221	0.997000	0.53966	0.301000	0.27625	-0.399000	0.07250	1.986000	0.57962	0.397000	0.26171	TGC		PASS	0.687	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			13	1	13	1	---	---	---	---
SBSN	374897	broad.mit.edu	37	19	36019135	36019135	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:36019135C>T	ENST00000452271.2	-	1	77	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	SBSN_ENST00000518157.1_Missense_Mutation_p.G17R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	17						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G17R(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACAGGGCCCCCAGTAGCAGA	0.607																																						uc002oae.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(49-51)GGG>AGG		suprabasin isoform 2 precursor							55.0	51.0	52.0					19																	36019135		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36019135C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.49G>A	19.37:g.36019135C>T	ENSP00000430242:p.Gly17Arg					SBSN_uc002oad.1_Missense_Mutation_p.G17R	p.G17R	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	119	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		17					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.49G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433338	0.43224	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.71341	-0.56;-0.15	4.38	4.38	0.52667	.	0.130975	0.33938	N	0.004403	T	0.79227	0.4410	L	0.59436	1.845	0.24703	N	0.993246	D;D	0.76494	0.998;0.999	D;D	0.76071	0.948;0.987	T	0.70163	-0.4947	10	0.87932	D	0	.	10.1362	0.42708	0.1999:0.8001:0.0:0.0	.	17;17	Q6UWP8;E9PBV3	SBSN_HUMAN;.	R	17	ENSP00000430242:G17R;ENSP00000428771:G17R	ENSP00000430242:G17R	G	-	1	0	SBSN	40710975	0.592000	0.26832	0.986000	0.45419	0.219000	0.24729	3.545000	0.53648	2.131000	0.65755	0.555000	0.69702	GGG		PASS	0.607	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		39	46	39	46	---	---	---	---
PSG9	5678	broad.mit.edu	37	19	43766118	43766118	+	Silent	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:43766118G>C	ENST00000270077.3	-	3	699	c.603C>G	c.(601-603)acC>acG	p.T201T	PSG9_ENST00000244293.7_Silent_p.T201T|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.T201T	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	201	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.T201T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATAGATAGAGGGTCCTGTTGG	0.502																																						uc002owd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(601-603)ACC>ACG		pregnancy specific beta-1-glycoprotein 9							214.0	213.0	213.0					19																	43766118		2203	4298	6501	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766118G>C	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.603C>G	19.37:g.43766118G>C						PSG9_uc002owe.3_Silent_p.T201T|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Silent_p.T201T|PSG9_uc002owh.2_Intron	p.T201T	NM_002784	NP_002775	Q00887	PSG9_HUMAN			3	702	-		Prostate(69;0.00682)	201			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.603C>G	CCDS12618.1																																																																																				PASS	0.502	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		426	75	426	75	---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44792476	44792476	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:44792476C>G	ENST00000291182.4	-	5	1214	c.1112G>C	c.(1111-1113)gGa>gCa	p.G371A	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	371					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.G371A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGGCTTCTCTCCTGTGTGAAT	0.448																																						uc002oza.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1111-1113)GGA>GCA		zinc finger protein 93 homolog							80.0	72.0	75.0					19																	44792476		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792476C>G	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1112G>C	19.37:g.44792476C>G	ENSP00000291182:p.Gly371Ala					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.G367A|ZNF235_uc010xwx.1_Missense_Mutation_p.G285A	p.G371A	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	1215	-		Prostate(69;0.0352)|all_neural(266;0.116)	371					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1112G>C	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	c	18.16	3.562433	0.65538	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.26373	1.74	3.9	3.9	0.45041	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39687	N	0.001293	T	0.44117	0.1278	L	0.48642	1.525	0.43522	D	0.995792	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.44251	-0.9340	10	0.66056	D	0.02	.	15.5357	0.76001	0.0:1.0:0.0:0.0	.	367;371	Q14590-2;Q14590	.;ZN235_HUMAN	A	371;371;293	ENSP00000291182:G371A	ENSP00000291182:G371A	G	-	2	0	ZNF235	49484316	0.999000	0.42202	0.975000	0.42487	0.991000	0.79684	4.592000	0.61027	2.145000	0.66743	0.457000	0.33378	GGA		PASS	0.448	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			81	7	81	7	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49001464	49001464	+	Silent	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:49001464T>C	ENST00000600059.1	-	11	3089	c.2862A>G	c.(2860-2862)agA>agG	p.R954R	LMTK3_ENST00000270238.3_Silent_p.R983R			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	954	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R983R(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTTTCTCTTCTCTCTCGGGGG	0.647																																						uc002pjk.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|central_nervous_system(1)	6						c.(2947-2949)AGA>AGG		lemur tyrosine kinase 3							72.0	76.0	75.0					19																	49001464		1880	4102	5982	SO:0001819	synonymous_variant	114783							g.chr19:49001464T>C	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2862A>G	19.37:g.49001464T>C							p.R983R	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	12	2949	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.2949A>G																																																																																					PASS	0.647	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		140	22	140	22	---	---	---	---
SIGLEC5	8778	broad.mit.edu	37	19	52148761	52148761	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:52148761G>C	ENST00000534261.2	-	0	37				SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC14_ENST00000360844.6_Missense_Mutation_p.I241M			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I241M(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGAAGATGCTGATGGCGAGGT	0.562																																						uc002pxf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)ATC>ATG		sialic acid binding Ig-like lectin 14 precursor							163.0	165.0	165.0					19																	52148761		1869	4072	5941			100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52148761G>C	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.-363C>G	19.37:g.52148761G>C							p.I241M	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	4	843	-		all_neural(266;0.0299)	241			Extracellular (Potential).|Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000534261.2	37	c.723C>G	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	8.046	0.764879	0.15914	.	.	ENSG00000254415	ENST00000360844	T	0.30182	1.54	2.83	-2.76	0.05896	Immunoglobulin-like (1);	1.095420	0.07269	U	0.868728	T	0.27663	0.0680	M	0.75447	2.3	0.09310	N	1	P	0.36874	0.572	B	0.32533	0.147	T	0.26467	-1.0102	10	0.32370	T	0.25	.	5.9775	0.19389	0.0:0.1771:0.2829:0.54	.	241	Q08ET2	SIG14_HUMAN	M	241	ENSP00000354090:I241M	ENSP00000354090:I241M	I	-	3	3	SIGLEC14	56840573	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	0.057000	0.14279	-0.403000	0.07622	0.462000	0.41574	ATC		PASS	0.562	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		68	24	68	24	---	---	---	---
VSTM1	284415	broad.mit.edu	37	19	54561751	54561751	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:54561751T>C	ENST00000338372.2	-	3	339	c.164A>G	c.(163-165)aAt>aGt	p.N55S	VSTM1_ENST00000425006.2_Missense_Mutation_p.N55S|VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Missense_Mutation_p.N55S	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	55	Ig-like V-type.				immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.N55S(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AAATGTCACATTCTGGGAATG	0.562																																						uc002qcw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)AAT>AGT		V-set and transmembrane domain containing 1							130.0	122.0	125.0					19																	54561751		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54561751T>C	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.164A>G	19.37:g.54561751T>C	ENSP00000343366:p.Asn55Ser					VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.N55S	p.N55S	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	3	340	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		55			Ig-like V-type.		B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.164A>G	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.573219	0.28092	.	.	ENSG00000189068	ENST00000338372;ENST00000376626;ENST00000425006	T;T;T	0.12465	2.68;2.68;2.68	3.49	2.42	0.29668	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34879	N	0.003609	T	0.21509	0.0518	L	0.37697	1.125	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.03384	-1.1042	9	.	.	.	-7.6186	6.6903	0.23167	0.0:0.0:0.2432:0.7567	.	55;55	D2DJS4;Q6UX27	.;VSTM1_HUMAN	S	55	ENSP00000343366:N55S;ENSP00000365813:N55S;ENSP00000413006:N55S	.	N	-	2	0	VSTM1	59253563	0.075000	0.21258	0.001000	0.08648	0.073000	0.16967	1.996000	0.40776	0.499000	0.27970	0.383000	0.25322	AAT		PASS	0.562	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		171	45	171	45	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54783745	54783745	+	Missense_Mutation	SNP	G	G	A	rs372550280		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:54783745G>A	ENST00000391749.4	-	4	527	c.256C>T	c.(256-258)Cca>Tca	p.P86S	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.P86S|LILRB2_ENST00000391746.1_Missense_Mutation_p.P86S|LILRB2_ENST00000434421.1_5'UTR|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391748.1_Missense_Mutation_p.P86S	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	86	Ig-like C2-type 1.				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.P86S(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)		GTGATGGATGGGATGTGGAAC	0.537																																						uc002qfb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(256-258)CCA>TCA		leukocyte immunoglobulin-like receptor,		G	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	205.0	195.0	199.0		256,256	-4.8	0.0	19		199	0,8600		0,0,4300	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	86/598,86/599	54783745	1,13005	2203	4300	6503	SO:0001583	missense	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.chr19:54783745G>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.256C>T	19.37:g.54783745G>A	ENSP00000375629:p.Pro86Ser					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P86S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P86S|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	p.P86S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	522	-	Ovarian(34;0.19)		86			Extracellular (Potential).|Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.256C>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668923	0.14776	2.27E-4	0.0	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	2.41	-4.83	0.03161	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.282900	0.01782	N	0.031829	T	0.10465	0.0256	L	0.31578	0.945	0.09310	N	0.999999	B;B;B	0.27140	0.026;0.018;0.169	B;B;B	0.28385	0.079;0.033;0.089	T	0.31251	-0.9950	10	0.56958	D	0.05	.	5.6703	0.17719	0.0:0.3415:0.4181:0.2404	.	86;103;86	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	S	86	ENSP00000375628:P86S;ENSP00000319960:P86S;ENSP00000375629:P86S;ENSP00000375626:P86S	ENSP00000319960:P86S	P	-	1	0	LILRB2	59475557	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.043000	0.00631	-1.063000	0.03177	0.289000	0.19496	CCA		PASS	0.537	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			198	34	198	34	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701621	56701621	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:56701621A>G	ENST00000586855.2	-	5	1376	c.1063T>C	c.(1063-1065)Ttt>Ctt	p.F355L	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.F355L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	355					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F355L(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCACATGCAAAGGGCGGCAGG	0.527																																						uc010ygh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1063-1065)TTT>CTT		zinc finger and SCAN domain containing 5B							78.0	81.0	80.0					19																	56701621		2200	4296	6496	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701621A>G		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1063T>C	19.37:g.56701621A>G	ENSP00000466072:p.Phe355Leu						p.F355L	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1063	-			355			C2H2-type 1.			Missense_Mutation	SNP	ENST00000586855.2	37	c.1063T>C	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	A	4.908	0.168687	0.09339	.	.	ENSG00000197213	ENST00000358992	T	0.33865	1.39	2.51	-4.48	0.03515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.23619	-1.0183	9	0.36615	T	0.2	.	3.2281	0.06739	0.5185:0.0:0.1701:0.3114	.	355	A6NJL1	ZSA5B_HUMAN	L	355	ENSP00000351883:F355L	ENSP00000351883:F355L	F	-	1	0	ZSCAN5B	61393433	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.484000	0.22308	-1.122000	0.02945	-1.616000	0.00795	TTT		PASS	0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		106	15	106	15	---	---	---	---
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.H100R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373																																						uc002wdw.1																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(1)	1						c.(706-708)CAT>CGT		casein kinase II alpha 1 subunit isoform a							94.0	83.0	87.0					20																	470440		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470440T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.707A>G	20.37:g.470440T>C	ENSP00000217244:p.His236Arg					CSNK2A1_uc002wdx.1_Missense_Mutation_p.H236R|CSNK2A1_uc002wdy.1_Missense_Mutation_p.H100R	p.H236R	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1100	-		Breast(17;0.231)	236			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.707A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018985	0.54576	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096383	0.85682	D	0.000000	T	0.35566	0.0936	N	0.01640	-0.785	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.27088	-1.0084	10	0.40728	T	0.16	-5.9305	14.2644	0.66107	0.0:0.0:0.0:1.0	.	236	P68400	CSK21_HUMAN	R	236;236;236;236;100	ENSP00000383086:H236R;ENSP00000339247:H236R;ENSP00000217244:H236R;ENSP00000383076:H100R	ENSP00000217244:H236R	H	-	2	0	CSNK2A1	418440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.791000	0.85805	2.213000	0.71641	0.477000	0.44152	CAT		PASS	0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		3	103	3	103	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14307905	14307905	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:14307905A>T	ENST00000378053.3	-	2	504	c.248T>A	c.(247-249)cTg>cAg	p.L83Q	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Missense_Mutation_p.L83Q	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	83					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L83Q(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTCTACTTTCAGCAAGTTTTT	0.348																																						uc002wov.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(247-249)CTG>CAG		fibronectin leucine rich transmembrane protein 3							140.0	150.0	147.0					20																	14307905		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307905A>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.248T>A	20.37:g.14307905A>T	ENSP00000367292:p.Leu83Gln					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.L83Q	p.L83Q	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	715	-		Colorectal(1;0.0464)	83			Extracellular (Potential).		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.248T>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	A	3.252	-0.153096	0.06585	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02421	4.3;4.3	6.06	4.96	0.65561	.	0.943966	0.08831	N	0.887233	T	0.01905	0.0060	N	0.11131	0.1	0.09310	N	0.999993	B	0.14012	0.009	B	0.09377	0.004	T	0.48681	-0.9014	10	0.11182	T	0.66	-1.0837	7.2376	0.26077	0.604:0.1215:0.0:0.2744	.	83	Q9NZU0	FLRT3_HUMAN	Q	83	ENSP00000367292:L83Q;ENSP00000339912:L83Q	ENSP00000339912:L83Q	L	-	2	0	FLRT3	14255905	0.169000	0.23002	1.000000	0.80357	0.999000	0.98932	1.112000	0.31172	1.086000	0.41228	0.533000	0.62120	CTG		PASS	0.348	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		129	187	129	187	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17341277	17341277	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:17341277T>C	ENST00000262545.2	+	4	812	c.497T>C	c.(496-498)aTg>aCg	p.M166T	PCSK2_ENST00000536609.1_Missense_Mutation_p.M131T|PCSK2_ENST00000377899.1_Missense_Mutation_p.M147T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	166	Peptidase S8.				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.M166T(1)		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)"""	ATTGGAATTATGGATGATGGT	0.443																																						uc002wpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(496-498)ATG>ACG		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						114.0	104.0	108.0					20																	17341277		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.chr20:17341277T>C	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.497T>C	20.37:g.17341277T>C	ENSP00000262545:p.Met166Thr					PCSK2_uc002wpl.2_Missense_Mutation_p.M147T|PCSK2_uc010zrm.1_Missense_Mutation_p.M131T	p.M166T	NM_002594	NP_002585	P16519	NEC2_HUMAN			4	817	+			166			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.497T>C	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.223272	0.79464	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87809	-2.3;-2.3;-2.3	6.07	6.07	0.98685	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	L	0.38838	1.175	0.80722	D	1	D;P	0.71674	0.998;0.941	D;P	0.76575	0.988;0.796	D	0.91142	0.4946	10	0.87932	D	0	-39.4209	14.5927	0.68378	0.0:0.0:0.0:1.0	.	131;166	B4DFQ3;P16519	.;NEC2_HUMAN	T	147;166;131	ENSP00000367131:M147T;ENSP00000262545:M166T;ENSP00000437458:M131T	ENSP00000262545:M166T	M	+	2	0	PCSK2	17289277	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.654000	0.83653	2.326000	0.78906	0.533000	0.62120	ATG		PASS	0.443	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		11	25	11	25	---	---	---	---
ZNF341	84905	broad.mit.edu	37	20	32349741	32349741	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:32349741C>G	ENST00000375200.1	+	8	1467	c.1102C>G	c.(1102-1104)Cac>Gac	p.H368D	ZNF341_ENST00000342427.2_Missense_Mutation_p.H361D	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	368					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.H361D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGTTAAGAAACACATGCAGAC	0.567																																						uc002wzy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1102-1104)CAC>GAC		zinc finger protein 341							156.0	133.0	141.0					20																	32349741		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32349741C>G	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1102C>G	20.37:g.32349741C>G	ENSP00000364346:p.His368Asp					ZNF341_uc002wzx.2_Missense_Mutation_p.H361D|ZNF341_uc010geq.2_Missense_Mutation_p.H278D|ZNF341_uc010ger.2_RNA	p.H368D	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			8	1122	+			368			C2H2-type 3.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.1102C>G		.	.	.	.	.	.	.	.	.	.	C	28.0	4.886214	0.91814	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.60672	0.17;0.17	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.994;0.991;0.996	T	0.71580	-0.4550	10	0.87932	D	0	-29.8218	19.7157	0.96119	0.0:1.0:0.0:0.0	.	309;368;361	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	D	361;368	ENSP00000344308:H361D;ENSP00000364346:H368D	ENSP00000344308:H361D	H	+	1	0	ZNF341	31813402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.749000	0.94314	0.655000	0.94253	CAC		PASS	0.567	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				113	372	113	372	---	---	---	---
CHMP4B	128866	broad.mit.edu	37	20	32438839	32438839	+	Silent	SNP	G	G	A	rs146262818	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:32438839G>A	ENST00000217402.2	+	3	615	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	150					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.S150S(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						CAGCAATTTCGAAACCTGTAG	0.438													g|||	2	0.000399361	0.0008	0.0014	5008	,	,		21217	0.0		0.0	False		,,,				2504	0.0					uc002xaa.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(448-450)TCG>TCA		chromatin modifying protein 4B		G		1,4405	2.1+/-5.4	0,1,2202	120.0	111.0	114.0		450	-2.3	1.0	20	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CHMP4B	NM_176812.4		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		150/225	32438839	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32438839G>A	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.450G>A	20.37:g.32438839G>A							p.S150S	NM_176812	NP_789782	Q9H444	CHM4B_HUMAN			3	606	+			150			Potential.		E1P5N4|Q53ZD6	Silent	SNP	ENST00000217402.2	37	c.450G>A	CCDS13228.1																																																																																				PASS	0.438	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			74	261	74	261	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33875407	33875407	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:33875407G>T	ENST00000374408.3	-	4	1271	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	392								p.P392H(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATGTAGGGAGGGCTGGCCACT	0.637																																						uc010zux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1174-1176)CCC>CAC		hypothetical protein LOC128876							103.0	84.0	90.0					20																	33875407		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875407G>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1175C>A	20.37:g.33875407G>T	ENSP00000363529:p.Pro392His					EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	p.P392H	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1293	-			392					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1175C>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	4.839	0.156054	0.09236	.	.	ENSG00000125998	ENST00000374408	T	0.07327	3.2	4.53	1.34	0.21922	.	1.274370	0.05615	N	0.578805	T	0.08088	0.0202	L	0.39898	1.24	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.38735	-0.9647	10	0.51188	T	0.08	-41.3187	4.1704	0.10327	0.0924:0.1596:0.5838:0.1642	.	392	Q9BQN1	FA83C_HUMAN	H	392	ENSP00000363529:P392H	ENSP00000363529:P392H	P	-	2	0	FAM83C	33338821	0.001000	0.12720	0.201000	0.23476	0.040000	0.13550	0.455000	0.21843	0.591000	0.29711	0.561000	0.74099	CCC		PASS	0.637	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			47	13	47	13	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40050343	40050343	+	Silent	SNP	T	T	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:40050343T>C	ENST00000373233.3	-	31	5109	c.4932A>G	c.(4930-4932)acA>acG	p.T1644T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1644					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.T1644T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGAGAATATGTAAGAGATT	0.423																																						uc002xka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4930-4932)ACA>ACG		chromodomain helicase DNA binding protein 6							61.0	62.0	62.0					20																	40050343		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40050343T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4932A>G	20.37:g.40050343T>C							p.T1644T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5110	-		Myeloproliferative disorder(115;0.00425)	1644					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.4932A>G	CCDS13317.1																																																																																				PASS	0.423	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			85	41	85	41	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60893579	60893579	+	Silent	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:60893579C>A	ENST00000252999.3	-	53	7236	c.7170G>T	c.(7168-7170)cgG>cgT	p.R2390R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2390	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.R2390R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGTCCACTGCCCGGTTCAAAG	0.677																																						uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(7168-7170)CGG>CGT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42.0	48.0	46.0					20																	60893579		2179	4282	6461	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60893579C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7170G>T	20.37:g.60893579C>A							p.R2390R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		53	7237	-	Breast(26;1.57e-08)		2390			Domain II and I.|Potential.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.7170G>T	CCDS33502.1																																																																																				PASS	0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		76	67	76	67	---	---	---	---
TNFRSF6B	8771	broad.mit.edu	37	20	62329762	62329762	+	Missense_Mutation	SNP	G	G	A	rs377030676		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr20:62329762G>A	ENST00000369996.1	+	3	849	c.749G>A	c.(748-750)cGc>cAc	p.R250H	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	250					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)	p.R250H(1)		central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGGGCGGGCCGCGCGGCCTTG	0.726																																						uc002yfy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(748-750)CGC>CAC		tumor necrosis factor receptor superfamily,		G	HIS/ARG	0,4002		0,0,2001	6.0	8.0	7.0		749	-0.8	0.0	20		7	1,7895		0,1,3947	no	missense	TNFRSF6B	NM_003823.3	29	0,1,5948	AA,AG,GG		0.0127,0.0,0.0084	benign	250/301	62329762	1,11897	2001	3948	5949	SO:0001583	missense	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62329762G>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.749G>A	20.37:g.62329762G>A	ENSP00000359013:p.Arg250His					RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Missense_Mutation_p.R250H	p.R250H	NM_032945	NP_116563	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		7	1183	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		250						Missense_Mutation	SNP	ENST00000369996.1	37	c.749G>A	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953852	0.73902	0.0	1.27E-4	ENSG00000243509	ENST00000370006;ENST00000369996	T	0.72835	-0.69	3.96	-0.758	0.11049	.	.	.	.	.	T	0.51736	0.1692	L	0.43152	1.355	0.09310	N	1	B	0.31318	0.319	B	0.17979	0.02	T	0.46965	-0.9153	9	0.66056	D	0.02	-1.0993	0.7394	0.00971	0.1666:0.183:0.2802:0.3702	.	250	O95407	TNF6B_HUMAN	H	250	ENSP00000359013:R250H	ENSP00000359010:R250H	R	+	2	0	TNFRSF6B	61800206	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.487000	0.06505	-0.082000	0.12640	0.313000	0.20887	CGC		PASS	0.726	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			8	19	8	19	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30354687	30354687	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr21:30354687G>A	ENST00000361371.5	-	5	659	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	LTN1_ENST00000389194.2_Silent_p.L240L|LTN1_ENST00000389195.2_Silent_p.L240L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	194					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L194L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGATCCTGCAGCACCTACAAA	0.373																																						uc002ymr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(718-720)CTG>TTG		zinc finger protein 294							74.0	74.0	74.0					21																	30354687		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30354687G>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.580C>T	21.37:g.30354687G>A						RNF160_uc010gll.1_RNA	p.L240L	NM_015565	NP_056380	O94822	LTN1_HUMAN			5	731	-			194					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.718C>T																																																																																					PASS	0.373	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		51	23	51	23	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40815102	40815102	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr22:40815102G>A	ENST00000355630.3	-	12	1930	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	MKL1_ENST00000402042.1_Missense_Mutation_p.T397M|MKL1_ENST00000396617.3_Missense_Mutation_p.T447M|MKL1_ENST00000407029.1_Missense_Mutation_p.T447M	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	447					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T447M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGTGGAGCCCGTGCTGCCAAA	0.692			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1339-1341)ACG>ATG		megakaryoblastic leukemia 1 protein							13.0	12.0	13.0					22																	40815102		2193	4290	6483	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815102G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1340C>T	22.37:g.40815102G>A	ENSP00000347847:p.Thr447Met					MKL1_uc003ayw.1_Missense_Mutation_p.T447M|MKL1_uc010gye.1_Missense_Mutation_p.T447M|MKL1_uc010gyf.1_Missense_Mutation_p.T397M	p.T447M	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			9	1547	-			447					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1340C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768896	0.49680	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.54866	0.55;0.61;0.55;0.55	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.82323	2.585	0.54753	D	0.999989	P;D;D	0.89917	0.926;1.0;1.0	B;D;D	0.83275	0.241;0.996;0.996	T	0.78643	-0.2124	10	0.56958	D	0.05	-19.4014	18.3103	0.90197	0.0:0.0:1.0:0.0	.	397;447;447	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	M	447;447;397;447	ENSP00000347847:T447M;ENSP00000379861:T447M;ENSP00000385584:T397M;ENSP00000385835:T447M	ENSP00000347847:T447M	T	-	2	0	MKL1	39145048	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	4.596000	0.61055	2.553000	0.86117	0.655000	0.94253	ACG		PASS	0.692	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		8	0	8	0	---	---	---	---
PRPS2	5634	broad.mit.edu	37	X	12827451	12827451	+	Splice_Site	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:12827451G>A	ENST00000380668.5	+	3	533	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PRPS2_ENST00000398491.2_Splice_Site_p.Q138Q|PRPS2_ENST00000489404.1_Splice_Site_p.Q135Q	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	135					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.Q135Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CTCAGATACAGGTATCCGTGT	0.418																																						uc004cvb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)CAG>CAA		phosphoribosyl pyrophosphate synthetase 2							128.0	108.0	115.0					X																	12827451		2203	4300	6503	SO:0001630	splice_region_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12827451G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.405+1G>A	X.37:g.12827451G>A						PRPS2_uc004cva.2_Silent_p.Q138Q|PRPS2_uc010nec.2_Silent_p.Q71Q	p.Q135Q	NM_002765	NP_002756	P11908	PRPS2_HUMAN			3	529	+			135					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	ENST00000380668.5	37	c.405G>A	CCDS14150.1																																																																																				PASS	0.418	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765	Silent	78	85	78	85	---	---	---	---
CTPS2	56474	broad.mit.edu	37	X	16685639	16685639	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:16685639G>C	ENST00000443824.1	-	13	2037	c.1294C>G	c.(1294-1296)Ctg>Gtg	p.L432V	CTPS2_ENST00000380241.3_Missense_Mutation_p.L432V|CTPS2_ENST00000359276.4_Missense_Mutation_p.L432V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	432	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.L432V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CCACTTACCAGAGGAACTGGG	0.448																																						uc004cxk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1294-1296)CTG>GTG		cytidine triphosphate synthase II							160.0	147.0	151.0					X																	16685639		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16685639G>C	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1294C>G	X.37:g.16685639G>C	ENSP00000401264:p.Leu432Val					CTPS2_uc004cxl.2_Missense_Mutation_p.L432V|CTPS2_uc004cxm.2_Missense_Mutation_p.L432V	p.L432V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN			13	2038	-	Hepatocellular(33;0.0997)		432			Glutamine amidotransferase type-1.		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.1294C>G	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	G	1.510	-0.549735	0.03996	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207	T;T;T	0.36878	1.23;1.23;1.23	5.44	-5.33	0.02713	Glutamine amidotransferase type 1 (2);	0.530450	0.17661	N	0.166340	T	0.05410	0.0143	N	0.00424	-1.51	0.32789	N	0.501401	B	0.02656	0.0	B	0.04013	0.001	T	0.27905	-1.0060	10	0.02654	T	1	-0.8238	2.5485	0.04742	0.2449:0.1928:0.4061:0.1562	.	432	Q9NRF8	PYRG2_HUMAN	V	432;432;432;98	ENSP00000401264:L432V;ENSP00000369590:L432V;ENSP00000352222:L432V	ENSP00000352222:L432V	L	-	1	2	CTPS2	16595560	0.840000	0.29493	0.123000	0.21794	0.409000	0.31022	-0.299000	0.08254	-1.787000	0.01268	-1.322000	0.01289	CTG		PASS	0.448	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		191	11	191	11	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627350	21627350	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:21627350G>C	ENST00000379510.3	+	20	2343	c.2307G>C	c.(2305-2307)caG>caC	p.Q769H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q720H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q769H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.Q739H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	769					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.Q769H(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCTCCTGGCAGGATTTAATTG	0.547																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(2305-2307)CAG>CAC		connector enhancer of kinase suppressor of Ras							96.0	95.0	95.0					X																	21627350		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627350G>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2307G>C	X.37:g.21627350G>C	ENSP00000368824:p.Gln769His					CNKSR2_uc004czw.2_Missense_Mutation_p.Q769H|CNKSR2_uc011mjn.1_Missense_Mutation_p.Q720H|CNKSR2_uc011mjo.1_Missense_Mutation_p.Q739H|CNKSR2_uc004czy.2_Missense_Mutation_p.Q361H	p.Q769H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			20	2343	+			769					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2307G>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137594	0.37728	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.20598	2.31;2.06;2.09;2.35	5.51	4.64	0.57946	.	0.102144	0.64402	D	0.000001	T	0.26448	0.0646	L	0.60455	1.87	0.53005	D	0.999963	B;B;D;P	0.52996	0.036;0.155;0.957;0.593	B;B;P;B	0.44897	0.022;0.03;0.463;0.21	T	0.02885	-1.1098	10	0.59425	D	0.04	-23.4313	13.3478	0.60584	0.0782:0.0:0.9218:0.0	.	739;720;361;769	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	H	739;720;769;769	ENSP00000397906:Q739H;ENSP00000444633:Q720H;ENSP00000279451:Q769H;ENSP00000368824:Q769H	ENSP00000279451:Q769H	Q	+	3	2	CNKSR2	21537271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.504000	0.60414	1.071000	0.40834	0.513000	0.50165	CAG		PASS	0.547	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		168	12	168	12	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37663199	37663199	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:37663199C>A	ENST00000378588.4	+	9	1034	c.967C>A	c.(967-969)Caa>Aaa	p.Q323K	CYBB_ENST00000536160.1_Missense_Mutation_p.Q56K|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.Q291K|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	323	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.Q323K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGAAGTGGGACAATACATTTT	0.443																																						uc004ddr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2	GRCh37	CM001659	CYBB	M		c.(967-969)CAA>AAA		cytochrome b-245 beta polypeptide							92.0	85.0	87.0					X																	37663199		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663199C>A	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.967C>A	X.37:g.37663199C>A	ENSP00000367851:p.Gln323Lys					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.Q291K|CYBB_uc011mkg.1_Missense_Mutation_p.Q56K	p.Q323K	NM_000397	NP_000388	P04839	CY24B_HUMAN			9	1028	+			323			Cytoplasmic (Potential).|FAD-binding FR-type.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.967C>A	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057432	0.93846	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.95622	-3.76;-3.76;-3.76	5.63	5.63	0.86233	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98717	0.9569	H	0.97564	4.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.99;0.998	D	0.99683	1.0999	10	0.87932	D	0	.	18.7197	0.91688	0.0:1.0:0.0:0.0	.	291;323	F5GWD2;P04839	.;CY24B_HUMAN	K	323;291;56	ENSP00000367851:Q323K;ENSP00000441896:Q291K;ENSP00000441958:Q56K	ENSP00000367851:Q323K	Q	+	1	0	CYBB	37548143	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.487000	0.81328	2.366000	0.80165	0.544000	0.68410	CAA		PASS	0.443	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			113	18	113	18	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39933862	39933862	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:39933862T>G	ENST00000378444.4	-	4	965	c.737A>C	c.(736-738)tAc>tCc	p.Y246S	BCOR_ENST00000342274.4_Missense_Mutation_p.Y246S|BCOR_ENST00000397354.3_Missense_Mutation_p.Y246S|BCOR_ENST00000378455.4_Missense_Mutation_p.Y246S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	246					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y246S(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCGGCAGGTAGAGAAAGCG	0.592			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(736-738)TAC>TCC		BCL-6 interacting corepressor isoform c							70.0	48.0	55.0					X																	39933862		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933862T>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.737A>C	X.37:g.39933862T>G	ENSP00000367705:p.Tyr246Ser					BCOR_uc004dep.3_Missense_Mutation_p.Y246S|BCOR_uc004deo.3_Missense_Mutation_p.Y246S|BCOR_uc004dem.3_Missense_Mutation_p.Y246S|BCOR_uc004deq.3_Missense_Mutation_p.Y246S	p.Y246S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	1029	-			246					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.737A>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521166	0.64747	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.38	5.38	0.77491	.	.	.	.	.	D	0.82421	0.5033	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	D	0.84661	0.0706	9	0.87932	D	0	-18.4142	14.4853	0.67614	0.0:0.0:0.0:1.0	.	246;246;246;246	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	S	246	ENSP00000367716:Y246S;ENSP00000380512:Y246S;ENSP00000367705:Y246S;ENSP00000345923:Y246S;ENSP00000384485:Y246S	ENSP00000345923:Y246S	Y	-	2	0	BCOR	39818806	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	1.800000	0.52685	0.486000	0.48141	TAC		PASS	0.592	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		6	23	6	23	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50129357	50129357	+	RNA	SNP	T	T	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:50129357T>A	ENST00000376025.2	-	0	2405							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.Q578H(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CCACCTTACCTTGTTCAACTT	0.473																																						uc010njr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(2344-2346)CAA>CAT		diacylglycerol kinase kappa							81.0	72.0	75.0					X																	50129357		2136	4243	6379			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50129357T>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50129357T>A							p.Q782H	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			15	2406	-	Ovarian(276;0.236)		782					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.2346A>T																																																																																					PASS	0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		34	54	34	54	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70343465	70343465	+	Missense_Mutation	SNP	G	G	C	rs370812643		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:70343465G>C	ENST00000374080.3	+	12	1671	c.1639G>C	c.(1639-1641)Gca>Cca	p.A547P	MED12_ENST00000374102.1_Missense_Mutation_p.A547P|MED12_ENST00000333646.6_Missense_Mutation_p.A547P			Q93074	MED12_HUMAN	mediator complex subunit 12	547					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.A547P(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCAGAAGCCGCAGATGAGAA	0.493			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1639-1641)GCA>CCA		mediator complex subunit 12							100.0	100.0	100.0					X																	70343465		2023	4163	6186	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70343465G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1639G>C	X.37:g.70343465G>C	ENSP00000363193:p.Ala547Pro					MED12_uc011mpq.1_Missense_Mutation_p.A547P|MED12_uc004dyz.2_Missense_Mutation_p.A547P|MED12_uc004dza.2_Missense_Mutation_p.A394P	p.A547P	NM_005120	NP_005111	Q93074	MED12_HUMAN			12	1838	+	Renal(35;0.156)		547					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1639G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	16.84	3.234744	0.58886	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.04	5.04	0.67666	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.062472	0.64402	D	0.000005	T	0.28732	0.0712	N	0.08118	0	0.39208	D	0.963267	P;P;P;P	0.48589	0.773;0.895;0.912;0.883	B;P;P;P	0.53722	0.425;0.544;0.733;0.677	T	0.21245	-1.0251	10	0.27785	T	0.31	-9.6869	17.537	0.87834	0.0:0.0:1.0:0.0	.	547;394;547;547	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	P	547;547;547;547;515	ENSP00000333125:A547P;ENSP00000363215:A547P;ENSP00000363193:A547P;ENSP00000414203:A515P	ENSP00000333125:A547P	A	+	1	0	MED12	70260190	1.000000	0.71417	0.813000	0.32504	0.775000	0.43874	5.980000	0.70516	2.325000	0.78763	0.509000	0.49947	GCA		PASS	0.493	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		52	3	52	3	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79277824	79277824	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:79277824C>A	ENST00000373294.5	+	1	84	c.56C>A	c.(55-57)cCc>cAc	p.P19H	TBX22_ENST00000373296.3_Missense_Mutation_p.P19H|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373291.1_5'Flank	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	19					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P19H(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGGGAGACCCAGCAAAAGA	0.587																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(55-57)CCC>CAC		T-box 22 isoform 1							52.0	48.0	49.0					X																	79277824		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79277824C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.56C>A	X.37:g.79277824C>A	ENSP00000362390:p.Pro19His					TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.P19H	p.P19H	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			2	190	+			19					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.56C>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062396	0.55432	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.86694	-2.16;-2.16	4.53	2.61	0.31194	.	0.482900	0.21445	N	0.074432	T	0.81230	0.4779	L	0.47716	1.5	0.58432	D	0.999999	D	0.55172	0.97	B	0.43916	0.436	T	0.75326	-0.3357	10	0.27785	T	0.31	.	7.5083	0.27558	0.0:0.738:0.1638:0.0981	.	19	Q9Y458	TBX22_HUMAN	H	19	ENSP00000362393:P19H;ENSP00000362390:P19H	ENSP00000362390:P19H	P	+	2	0	TBX22	79164480	0.006000	0.16342	0.895000	0.35142	0.593000	0.36681	2.155000	0.42301	0.716000	0.32124	0.600000	0.82982	CCC		PASS	0.587	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		26	4	26	4	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79281106	79281106	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:79281106G>C	ENST00000373294.5	+	4	491	c.463G>C	c.(463-465)Gtc>Ctc	p.V155L	TBX22_ENST00000373296.3_Missense_Mutation_p.V155L|TBX22_ENST00000442340.1_Missense_Mutation_p.V35L|TBX22_ENST00000373291.1_Missense_Mutation_p.V35L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	155					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V155L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTCAGGTACGTCTATCACAG	0.507																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(463-465)GTC>CTC		T-box 22 isoform 1							94.0	77.0	83.0					X																	79281106		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281106G>C	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.463G>C	X.37:g.79281106G>C	ENSP00000362390:p.Val155Leu					TBX22_uc004edi.1_Missense_Mutation_p.V35L|TBX22_uc004edj.1_Missense_Mutation_p.V155L	p.V155L	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			5	597	+			155			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.463G>C	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697060	0.68386	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.77	4.77	0.60923	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.92087	0.7492	M	0.82056	2.57	0.80722	D	1	P	0.43392	0.805	P	0.49332	0.607	D	0.93199	0.6590	10	0.66056	D	0.02	.	15.4757	0.75478	0.0:0.0:1.0:0.0	.	155	Q9Y458	TBX22_HUMAN	L	155;35;155;35	ENSP00000362393:V155L;ENSP00000396394:V35L;ENSP00000362390:V155L;ENSP00000362388:V35L	ENSP00000362388:V35L	V	+	1	0	TBX22	79167762	1.000000	0.71417	0.987000	0.45799	0.366000	0.29705	6.181000	0.71988	1.948000	0.56530	0.600000	0.82982	GTC		PASS	0.507	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		108	7	108	7	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111024417	111024417	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:111024417G>T	ENST00000262839.2	-	9	3036	c.2118C>A	c.(2116-2118)agC>agA	p.S706R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	706					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S706R(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTGTATCAGGCTGTCAGCAT	0.423																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2116-2118)AGC>AGA		transient receptor potential cation channel,							213.0	169.0	184.0					X																	111024417		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111024417G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2118C>A	X.37:g.111024417G>T	ENSP00000262839:p.Ser706Arg					TRPC5_uc004epm.1_Missense_Mutation_p.S706R	p.S706R	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			9	3037	-			706			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2118C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385083	0.25031	.	.	ENSG00000072315	ENST00000262839	T	0.81078	-1.45	5.65	3.83	0.44106	.	0.143155	0.64402	D	0.000005	T	0.65565	0.2703	N	0.19112	0.55	0.38563	D	0.949753	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.56092	-0.8036	10	0.20519	T	0.43	-6.0547	10.8855	0.46964	0.1615:0.0:0.8385:0.0	.	707;706	Q59G51;Q9UL62	.;TRPC5_HUMAN	R	706	ENSP00000262839:S706R	ENSP00000262839:S706R	S	-	3	2	TRPC5	110911073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.365000	0.34182	0.507000	0.28148	0.550000	0.68814	AGC		PASS	0.423	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		133	23	133	23	---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129801610	129801610	+	Silent	SNP	G	G	C			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:129801610G>C	ENST00000370927.1	-	6	909	c.888C>G	c.(886-888)gcC>gcG	p.A296A	ENOX2_ENST00000370935.1_Silent_p.A267A|ENOX2_ENST00000338144.3_Silent_p.A296A|ENOX2_ENST00000394363.1_Silent_p.A267A			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	296					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.A296A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CATGGCTGTTGGCCGACTGGA	0.507																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(886-888)GCC>GCG		ecto-NOX disulfide-thiol exchanger 2 isoform b							192.0	165.0	174.0					X																	129801610		2203	4300	6503	SO:0001819	synonymous_variant	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129801610G>C	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.888C>G	X.37:g.129801610G>C						ENOX2_uc004evx.2_Silent_p.A267A|ENOX2_uc004evy.2_Silent_p.A267A|ENOX2_uc004evv.2_Silent_p.A123A	p.A296A	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			9	1306	-			296			Potential.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	c.888C>G	CCDS14626.1																																																																																				PASS	0.507	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		139	179	139	179	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135593704	135593704	+	Silent	SNP	C	C	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:135593704C>T	ENST00000218364.4	+	9	1974	c.1800C>T	c.(1798-1800)tcC>tcT	p.S600S	HTATSF1_ENST00000535601.1_Silent_p.S600S	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	600	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S600S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CTGAAAACTCCGAATTTGAAG	0.393																																						uc004ezw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1798-1800)TCC>TCT		HIV-1 Tat specific factor 1							58.0	63.0	62.0					X																	135593704		2202	4296	6498	SO:0001819	synonymous_variant	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593704C>T	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1800C>T	X.37:g.135593704C>T						HTATSF1_uc004ezx.2_Silent_p.S600S	p.S600S	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			10	2222	+	Acute lymphoblastic leukemia(192;0.000127)		600			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Silent	SNP	ENST00000218364.4	37	c.1800C>T	CCDS14657.1																																																																																				PASS	0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		88	106	88	106	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797850	148797850	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:148797850G>T	ENST00000355220.5	+	5	806	c.704G>T	c.(703-705)cGc>cTc	p.R235L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R206L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	235	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R235L(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTATTGCTCCGCAAGTATCGA	0.443																																						uc004fdq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(703-705)CGC>CTC		melanoma antigen family A, 11 isoform a							113.0	115.0	114.0					X																	148797850		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797850G>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.704G>T	X.37:g.148797850G>T	ENSP00000347358:p.Arg235Leu					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R206L	p.R235L	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	806	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		235			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.704G>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.743804	0.00087	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04275	3.66;3.66;3.66	0.976	-1.95	0.07548	.	.	.	.	.	T	0.00998	0.0033	N	0.00308	-1.67	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.37174	-0.9717	9	0.09084	T	0.74	.	2.3871	0.04368	0.4701:0.0:0.2471:0.2828	.	206;235	G5E962;P43364	.;MAGAB_HUMAN	L	206;206;235	ENSP00000391496:R206L;ENSP00000328177:R206L;ENSP00000347358:R235L	ENSP00000328177:R206L	R	+	2	0	MAGEA11	148576555	0.005000	0.15991	0.004000	0.12327	0.003000	0.03518	-0.910000	0.04054	-1.818000	0.01218	-2.954000	0.00084	CGC		PASS	0.443	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		284	14	284	14	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151366222	151366222	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:151366222T>G	ENST00000370314.4	-	8	1052	c.814A>C	c.(814-816)Aag>Cag	p.K272Q	GABRA3_ENST00000535043.1_Missense_Mutation_p.K272Q	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	272					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K272Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATTTTTCGCTTGAGATGGAAG	0.428																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)AAG>CAG		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						205.0	145.0	165.0					X																	151366222		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151366222T>G		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.814A>C	X.37:g.151366222T>G	ENSP00000359337:p.Lys272Gln						p.K272Q	NM_000808	NP_000799	P34903	GBRA3_HUMAN			8	1054	-	Acute lymphoblastic leukemia(192;6.56e-05)		272			Extracellular (Probable).		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.814A>C	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.288684	0.59976	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.78364	-1.17;-1.17;-1.17	4.98	4.98	0.66077	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	L	0.31371	0.925	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.76537	-0.2923	10	0.25106	T	0.35	.	11.6031	0.51015	0.0:0.0:0.0:1.0	.	272	P34903	GBRA3_HUMAN	Q	272	ENSP00000359337:K272Q;ENSP00000359334:K272Q;ENSP00000443527:K272Q	ENSP00000359334:K272Q	K	-	1	0	GABRA3	151116878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.991000	0.88244	1.640000	0.50565	0.437000	0.28790	AAG		PASS	0.428	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		141	17	141	17	---	---	---	---
BCAP31	10134	broad.mit.edu	37	X	152981080	152981080	+	Silent	SNP	G	G	A			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:152981080G>A	ENST00000345046.6	-	4	665	c.258C>T	c.(256-258)ccC>ccT	p.P86P	BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000441714.1_Silent_p.P86P|BCAP31_ENST00000458587.2_Silent_p.P153P	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	86					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)		p.P86P(1)|p.P153P(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGGCCCCGGGATTGTTCT	0.537																																						uc011myz.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(256-258)CCC>CCT		B-cell receptor-associated protein 31 isoform b							172.0	131.0	145.0					X																	152981080		2203	4300	6503	SO:0001819	synonymous_variant	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152981080G>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.258C>T	X.37:g.152981080G>A						BCAP31_uc011myy.1_5'UTR|BCAP31_uc004fid.2_Silent_p.P153P|BCAP31_uc011mza.1_Silent_p.P86P|BCAP31_uc004fie.2_Silent_p.P86P	p.P86P	NM_001139441	NP_001132913	P51572	BAP31_HUMAN			4	414	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		86			Lumenal (Potential).		B3KQ79|D3DWV5|Q13836|Q96CF0	Silent	SNP	ENST00000345046.6	37	c.258C>T	CCDS14727.1																																																																																				PASS	0.537	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		195	17	195	17	---	---	---	---
SPRY3	10251	broad.mit.edu	37	X	155003858	155003858	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:155003858G>T	ENST00000302805.2	+	2	756	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	109					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.G109C(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCACCTTCAGGCCAATCCAT	0.557																																						uc004fnq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GGC>TGC		sprouty homolog 3							138.0	124.0	129.0					X																	155003858		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003858G>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.325G>T	X.37:g.155003858G>T	ENSP00000302978:p.Gly109Cys					SPRY3_uc010nvl.1_Intron	p.G109C	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	779	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		109					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.325G>T	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911152	0.33721	.	.	ENSG00000168939	ENST00000302805	T	0.56611	0.45	3.14	3.14	0.36123	.	0.063724	0.64402	D	0.000008	T	0.51958	0.1705	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.48030	0.564	T	0.50524	-0.8818	9	0.66056	D	0.02	-27.7599	11.3539	0.49605	0.0:0.0:1.0:0.0	.	109	O43610	SPY3_HUMAN	C	109	ENSP00000302978:G109C	ENSP00000302978:G109C	G	+	1	0	SPRY3	154657052	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.071000	0.71229	1.593000	0.50029	0.279000	0.19357	GGC		PASS	0.557	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		125	16	125	16	---	---	---	---
AMELY	266	broad.mit.edu	37	Y	6736492	6736492	+	Silent	SNP	A	A	G			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrY:6736492A>G	ENST00000383036.1	-	5	200	c.201T>C	c.(199-201)taT>taC	p.Y67Y	AMELY_ENST00000215479.5_Silent_p.Y53Y|AMELY_ENST00000383037.4_Silent_p.Y67Y			Q99218	AMELY_HUMAN	amelogenin, Y-linked	67					biomineral tissue development (GO:0031214)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	structural constituent of tooth enamel (GO:0030345)	p.Y53Y(1)		NS(1)|lung(5)	6						GCTCGTAACCATAGGAAGAGT	0.532																																						uc004fra.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)TAT>TAC		amelogenin, Y-linked precursor							78.0	68.0	70.0					Y																	6736492		607	1967	2574	SO:0001819	synonymous_variant	266				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chrY:6736492A>G	M86933	CCDS14778.1	Yp11.2	2004-12-07	2003-09-12		ENSG00000099721	ENSG00000099721			462	protein-coding gene	gene with protein product		410000	"""amelogenin (Y chromosome)"""	AMGL		2004775	Standard	NM_001143		Approved		uc004fqz.3	Q99218	OTTHUMG00000035297	ENST00000383036.1:c.201T>C	Y.37:g.6736492A>G						AMELY_uc004fqz.2_Silent_p.Y53Y	p.Y67Y	NM_001143	NP_001134	Q99218	AMELY_HUMAN			5	213	-			67					Q6RWT1	Silent	SNP	ENST00000383036.1	37	c.201T>C	CCDS14778.1																																																																																				PASS	0.532	AMELY-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000100214.1	NM_001143		151	11	151	11	---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16374837	16374837	+	Splice_Site	DEL	G	G	-			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:16374837delG	ENST00000375679.4	+	6	609		c.e6-1		CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTCTGCAGGGCCCTTTCG	0.662																																						uc001axw.3																			0				skin(1)	1						c.e6-1		chloride channel Kb isoform 1							46.0	44.0	45.0					1																	16374837		2203	4300	6503	SO:0001630	splice_region_variant	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16374837delG	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.499-1G>-	1.37:g.16374837delG						FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Splice_Site_p.G167_splice|CLCNKB_uc001axy.3_5'Flank	p.G167_splice	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	6	579	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Splice_Site	DEL	ENST00000375679.4	37	c.499_splice	CCDS168.1																																																																																					0.662	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	Intron	72	46	72	46	---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213251154	213251155	+	Frame_Shift_Ins	INS	-	-	T			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr1:213251154_213251155insT	ENST00000366960.3	+	3	408_409	c.258_259insT	c.(259-261)tttfs	p.F87fs	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000366959.3_Frame_Shift_Ins_p.F75fs|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	87	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAGGAATAGTGTTTGGTAAGTG	0.282																																						uc010ptr.1																			0				lung(4)|ovary(3)|breast(1)	8						c.(256-261)GTGTTTfs		ribosomal protein S6 kinase, 52kDa, polypeptide																																				SO:0001589	frameshift_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213251154_213251155insT	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.261dupT	1.37:g.213251157_213251157dupT	ENSP00000355927:p.Phe87fs					RPS6KC1_uc001hkd.2_Frame_Shift_Ins_p.V74fs|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_Intron|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_5'UTR	p.V86fs	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	3	417_418	+			86_87			PX.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Frame_Shift_Ins	INS	ENST00000366960.3	37	c.258_259insT	CCDS1513.1																																																																																					0.282	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		100	52	100	52	---	---	---	---
GNPDA2	132789	broad.mit.edu	37	4	44724131	44724131	+	Frame_Shift_Del	DEL	C	C	-	rs200496880		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr4:44724131delC	ENST00000295448.3	-	2	250	c.94delG	c.(94-96)gacfs	p.D32fs	GNPDA2_ENST00000509756.1_Frame_Shift_Del_p.D32fs|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507534.1_Intron|GNPDA2_ENST00000507917.1_Frame_Shift_Del_p.D32fs	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	32					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AAATATCTGTCCTGTCCAGGT	0.348																																					Colon(54;743 1010 7604 16453 19544)	uc003gwy.2																			0				ovary(1)	1						c.(94-96)GACfs		glucosamine-6-phosphate deaminase 2							95.0	93.0	94.0					4																	44724131		2203	4300	6503	SO:0001589	frameshift_variant	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44724131delC	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.94delG	4.37:g.44724131delC	ENSP00000295448:p.Asp32fs					GNPDA2_uc010iga.2_Frame_Shift_Del_p.D32fs|GNPDA2_uc011bzb.1_Intron|GNPDA2_uc003gwz.1_Frame_Shift_Del_p.D32fs	p.D32fs	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			2	251	-			32					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Frame_Shift_Del	DEL	ENST00000295448.3	37	c.94delG	CCDS3469.1																																																																																					0.348	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		59	38	59	38	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-	rs145222727|rs370380135	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctgccagtg>ctg	p.PV15del	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	15					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166	0.033147	0.0045	0.0476	5008	,	,		16199	0.0		0.0944	False		,,,				2504	0.0327					uc003lkc.1																			1	Deletion - In frame(1)		prostate(1)		0						c.(40-48)CTGCCAGTG>CTG		protocadherin gamma subfamily B, 4 isoform 1			,,,,,,,,,,,	50,3074		6,38,1518					,,,,,,,,,,,	3.7	0.9		dbSNP_134	6	518,6570		64,390,3090	no	coding,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_032098.1,NM_018924.2,NM_018923.2,NM_018922.2,NM_018920.2,NM_018919.2,NM_018918.2,NM_018917.2,NM_018916.3,NM_018915.2,NM_018912.2,NM_003736.2	,,,,,,,,,,,	70,428,4608	A1A1,A1R,RR		7.3081,1.6005,5.5621	,,,,,,,,,,,	,,,,,,,,,,,		568,9644				SO:0001651	inframe_deletion	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140767492_140767497delTGCCAG	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.41_46delTGCCAG	5.37:g.140767492_140767497delTGCCAG	ENSP00000428288:p.Pro15_Val16del		OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_In_Frame_Del_p.PV15del	p.PV15del	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	41_46	+			15_16					O15099|Q2M267|Q9UN64	In_Frame_Del	DEL	ENST00000519479.1	37	c.41_46delTGCCAG	CCDS54928.1																																																																																					0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		4	4	4	4	---	---	---	---
EYA1	2138	broad.mit.edu	37	8	72211919	72211919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:72211919delC	ENST00000340726.3	-	8	1232	c.593delG	c.(592-594)ggafs	p.G198fs	EYA1_ENST00000388742.4_Frame_Shift_Del_p.G198fs|EYA1_ENST00000388740.3_Frame_Shift_Del_p.G165fs|EYA1_ENST00000419131.1_Frame_Shift_Del_p.G193fs|EYA1_ENST00000303824.7_Frame_Shift_Del_p.G192fs|EYA1_ENST00000388741.2_Frame_Shift_Del_p.G164fs|EYA1_ENST00000388743.2_Frame_Shift_Del_p.G197fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	198					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGAATTATTTCCTGTATATAT	0.308																																						uc003xys.3																			0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(592-594)GGAfs		eyes absent 1 isoform b							121.0	130.0	127.0					8																	72211919		2203	4299	6502	SO:0001589	frameshift_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211919delC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.593delG	8.37:g.72211919delC	ENSP00000342626:p.Gly198fs					EYA1_uc003xyr.3_Frame_Shift_Del_p.G193fs|EYA1_uc003xyt.3_Frame_Shift_Del_p.G165fs|EYA1_uc010lzf.2_Frame_Shift_Del_p.G125fs|EYA1_uc003xyu.2_Frame_Shift_Del_p.G198fs|EYA1_uc011lfe.1_Frame_Shift_Del_p.G192fs|EYA1_uc003xyv.2_Frame_Shift_Del_p.G76fs	p.G198fs	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		7	880	-	Breast(64;0.046)		198					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Frame_Shift_Del	DEL	ENST00000340726.3	37	c.593delG	CCDS34906.1																																																																																					0.308	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		38	115	38	115	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87588148	87588163	+	Frame_Shift_Del	DEL	TTCTAACTGAGTGGGG	TTCTAACTGAGTGGGG	-	rs78239264|rs199570140	byFrequency	TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr8:87588148_87588163delTTCTAACTGAGTGGGG	ENST00000320005.5	-	18	2346_2361	c.2299_2314delCCCCACTCAGTTAGAA	c.(2299-2316)ccccactcagttagaaggfs	p.PHSVRR767fs		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	767					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.H768Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAAACTGTCCTTCTAACTGAGTGGGGTTCTTCCTCC	0.449																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2299-2316)CCCCACTCAGTTAGAAGGfs		cyclic nucleotide gated channel beta 3																																				SO:0001589	frameshift_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588148_87588163delTTCTAACTGAGTGGGG	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2299_2314delCCCCACTCAGTTAGAA	8.37:g.87588148_87588163delTTCTAACTGAGTGGGG	ENSP00000316605:p.Pro767fs					CNGB3_uc010maj.2_Frame_Shift_Del_p.P624fs	p.P767fs	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			18	2345_2360	-			767_772			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Frame_Shift_Del	DEL	ENST00000320005.5	37	c.2299_2314delCCCCACTCAGTTAGAA	CCDS6244.1																																																																																					0.449	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		88	89	88	89	---	---	---	---
KAZALD1	81621	broad.mit.edu	37	10	102822791	102822809	+	Frame_Shift_Del	DEL	CTGCAGGAGGCGGCCCGCG	CTGCAGGAGGCGGCCCGCG	-	rs145868353|rs375185241		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr10:102822791_102822809delCTGCAGGAGGCGGCCCGCG	ENST00000370200.5	+	2	768_786	c.442_460delCTGCAGGAGGCGGCCCGCG	c.(442-462)ctgcaggaggcggcccgcgctfs	p.LQEAARA148fs	RP11-108L7.15_ENST00000609242.1_lincRNA	NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	148	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GATCTGCCGCCTGCAGGAGGCGGCCCGCGCTCGGCCCGA	0.694																																						uc001ksr.2																			0					0						c.(442-462)CTGCAGGAGGCGGCCCGCGCTfs		Kazal-type serine peptidase inhibitor domain 1																																				SO:0001589	frameshift_variant	81621				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding	g.chr10:102822791_102822809delCTGCAGGAGGCGGCCCGCG	AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.442_460delCTGCAGGAGGCGGCCCGCG	10.37:g.102822791_102822809delCTGCAGGAGGCGGCCCGCG	ENSP00000359219:p.Leu148fs					KAZALD1_uc001kss.3_RNA|KAZALD1_uc001kst.1_Frame_Shift_Del_p.L148fs	p.L148fs	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	2	1367_1385	+			148_154			Kazal-like.		D3DR74|Q6ZMB1|Q9BQ73	Frame_Shift_Del	DEL	ENST00000370200.5	37	c.442_460delCTGCAGGAGGCGGCCCGCG	CCDS7509.1																																																																																					0.694	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049891.2	NM_030929		2	8	2	8	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6244402	6244402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:6244402delC	ENST00000449352.2	-	4	1107	c.844delG	c.(844-846)gatfs	p.D282fs	FAM160A2_ENST00000265978.4_Frame_Shift_Del_p.D282fs|FAM160A2_ENST00000524416.1_Frame_Shift_Del_p.D282fs			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	282					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGTGCCAATCATCCCCTGGA	0.507																																						uc001mcl.3																			0				skin(2)	2						c.(844-846)GATfs		hypothetical protein LOC84067 isoform 2							137.0	137.0	137.0					11																	6244402		2201	4296	6497	SO:0001589	frameshift_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244402delC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.844delG	11.37:g.6244402delC	ENSP00000416918:p.Asp282fs					FAM160A2_uc001mck.3_Frame_Shift_Del_p.D282fs|FAM160A2_uc001mcm.2_Frame_Shift_Del_p.D282fs	p.D282fs	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			4	1203	-			282					Q9C0A4|Q9H0N3|Q9H624	Frame_Shift_Del	DEL	ENST00000449352.2	37	c.844delG	CCDS44530.1																																																																																					0.507	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		81	321	81	321	---	---	---	---
OR5M3	219482	broad.mit.edu	37	11	56237250	56237250	+	Frame_Shift_Del	DEL	G	G	-	rs573748915		TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr11:56237250delG	ENST00000312240.2	-	1	764	c.724delC	c.(724-726)catfs	p.H242fs		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H242N(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)					GCTGTCAGATGGGACCCACAT	0.473																																						uc010rjk.1																			1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(724-726)CATfs		olfactory receptor, family 5, subfamily M,							58.0	57.0	57.0					11																	56237250		2201	4295	6496	SO:0001589	frameshift_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237250delG	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.724delC	11.37:g.56237250delG	ENSP00000312208:p.His242fs						p.H242fs	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	724	-	Esophageal squamous(21;0.00448)		242			Helical; Name=6; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Frame_Shift_Del	DEL	ENST00000312240.2	37	c.724delC	CCDS31532.1																																																																																					0.473	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		31	97	31	97	---	---	---	---
ZFP14	57677	broad.mit.edu	37	19	36831795	36831795	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:36831795delG	ENST00000270001.7	-	5	1048	c.933delC	c.(931-933)ctcfs	p.L311fs		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	311					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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TACATTCATAGAGCTTTTCAG	0.418																																						uc002odx.1																			0				ovary(1)	1						c.(931-933)CTCfs		zinc finger protein 14-like							97.0	100.0	99.0					19																	36831795		2203	4300	6503	SO:0001589	frameshift_variant	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831795delG	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.933delC	19.37:g.36831795delG	ENSP00000270001:p.Leu311fs					ZFP14_uc010xtd.1_Frame_Shift_Del_p.L312fs|ZFP14_uc010eex.1_Frame_Shift_Del_p.L311fs	p.L311fs	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	1026	-	Esophageal squamous(110;0.162)		311					A7MD23	Frame_Shift_Del	DEL	ENST00000270001.7	37	c.933delC	CCDS33002.1																																																																																					0.418	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		34	192	34	192	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53067638	53067638	+	Intron	DEL	G	G	-			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:53067638delG	ENST00000478039.1	+	2	229							Q9NV72	ZN701_HUMAN	zinc finger protein 701						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CGCATTGGTTGGGTGGGTTCA	0.308																																					NSCLC(89;451 1475 9611 20673 52284)	uc002pzq.2																			0					0								Homo sapiens zinc finger protein 808, mRNA (cDNA clone IMAGE:3542548), complete cds.																																				SO:0001627	intron_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53067638delG	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000478039.1:c.230-5655G>-	19.37:g.53067638delG										Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	4		+								A2RRM8|B9EGF2|F5GZM6|Q66K42	RNA	DEL	ENST00000478039.1	37	c.4150delG																																																																																						0.308	ZNF701-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000463464.1	NM_018260		2	10	2	10	---	---	---	---
ZNF787	126208	broad.mit.edu	37	19	56600346	56600346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chr19:56600346delG	ENST00000270459.3	-	3	313	c.195delC	c.(193-195)cccfs	p.P65fs		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	65	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		TGCAGATGTAgggggcgggcg	0.721																																						uc010eth.1																			0				pancreas(1)	1						c.(193-195)CCCfs		zinc finger protein 787							8.0	9.0	9.0					19																	56600346		2049	4130	6179	SO:0001589	frameshift_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600346delG	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.195delC	19.37:g.56600346delG	ENSP00000270459:p.Pro65fs						p.P65fs	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	314	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	65			Pro-rich.		O00455	Frame_Shift_Del	DEL	ENST00000270459.3	37	c.195delC	CCDS42634.1																																																																																					0.721	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		5	13	5	13	---	---	---	---
GYG2	8908	broad.mit.edu	37	X	2778086	2778087	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-37-4135-01A-01D-1352-08	TCGA-37-4135-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	754dda66-fceb-4f63-bc99-c98aaa86b0c2	8e835eb7-d797-4516-b2be-acc7800d2b0a	g.chrX:2778086_2778087delCG	ENST00000381163.3	+	8	1192_1193	c.910_911delCG	c.(910-912)cgcfs	p.R304fs	GYG2_ENST00000338623.5_Frame_Shift_Del_p.R304fs|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000542787.1_Frame_Shift_Del_p.R304fs|GYG2_ENST00000398806.3_Frame_Shift_Del_p.R273fs	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	304					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGGAAGCACGCGCGTCTCCT	0.554																																						uc004cqs.1																			0				ovary(1)|kidney(1)	2						c.(910-912)CGCfs		glycogenin 2 isoform b																																				SO:0001589	frameshift_variant	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2778086_2778087delCG	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.910_911delCG	X.37:g.2778090_2778091delCG	ENSP00000370555:p.Arg304fs					GYG2_uc004cqt.1_Frame_Shift_Del_p.R273fs|GYG2_uc004cqu.1_Frame_Shift_Del_p.R273fs|GYG2_uc004cqv.1_Frame_Shift_Del_p.R118fs|GYG2_uc004cqw.1_Frame_Shift_Del_p.R264fs|GYG2_uc004cqx.1_Frame_Shift_Del_p.R273fs|GYG2_uc010ndc.1_Frame_Shift_Del_p.R118fs	p.R304fs	NM_003918	NP_003909	O15488	GLYG2_HUMAN			8	1192_1193	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	304					B7WNN6|O15485|O15486|O15487|O15489|O15490	Frame_Shift_Del	DEL	ENST00000381163.3	37	c.910_911delCG	CCDS14121.1																																																																																					0.554	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		4	11	4	11	---	---	---	---
