#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
TARDBP	23435	broad.mit.edu	37	1	11077007	11077007	+	Silent	SNP	A	A	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:11077007A>C	ENST00000240185.3	+	3	459	c.345A>C	c.(343-345)acA>acC	p.T115T	TARDBP_ENST00000439080.2_Intron|TARDBP_ENST00000315091.3_Silent_p.T115T	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	115	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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.T115T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		CATGGAAAACAACCGAACAGG	0.388																																						uc001art.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(343-345)ACA>ACC		TAR DNA binding protein							116.0	117.0	117.0					1																	11077007		2203	4300	6503	SO:0001819	synonymous_variant	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11077007A>C	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.345A>C	1.37:g.11077007A>C						TARDBP_uc010oap.1_Intron	p.T115T	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	3	479	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	115	Missing: Completely abolishes RNA binding.		RRM 1.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Silent	SNP	ENST00000240185.3	37	c.345A>C	CCDS122.1																																																																																				PASS	0.388	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		14	67	14	67	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11307700	11307700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:11307700G>A	ENST00000361445.4	-	8	1283	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	403	Interaction with NBN.				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.R403*(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)	GCAGAAGGTCGGAATGCAGCC	0.478																																						uc001asd.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(1207-1209)CGA>TGA		FK506 binding protein 12-rapamycin associated							102.0	100.0	101.0					1																	11307700		2203	4300	6503	SO:0001587	stop_gained	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.chr1:11307700G>A	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.1207C>T	1.37:g.11307700G>A	ENSP00000354558:p.Arg403*						p.R403*	NM_004958	NP_004949	P42345	MTOR_HUMAN			8	1328	-			403					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Nonsense_Mutation	SNP	ENST00000361445.4	37	c.1207C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	38	7.129803	0.98085	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	.	.	.	5.26	4.33	0.51752	.	0.156567	0.44902	D	0.000410	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-3.6544	13.1064	0.59249	0.0:0.0:0.7096:0.2904	.	.	.	.	X	403	.	ENSP00000354558:R403X	R	-	1	2	MTOR	11230287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.072000	0.50049	1.183000	0.42943	0.455000	0.32223	CGA		PASS	0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		17	48	17	48	---	---	---	---
PRAMEF12	390999	broad.mit.edu	37	1	12837350	12837350	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:12837350G>T	ENST00000357726.4	+	3	1087	c.1060G>T	c.(1060-1062)Gac>Tac	p.D354Y		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	354					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D354Y(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGACCCTGGACTTAGAGGA	0.592																																						uc001aui.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1060-1062)GAC>TAC		PRAME family member 12							91.0	92.0	92.0					1																	12837350		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837350G>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1060G>T	1.37:g.12837350G>T	ENSP00000350358:p.Asp354Tyr						p.D354Y	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1087	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	354			LRR 2.			Missense_Mutation	SNP	ENST00000357726.4	37	c.1060G>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	0.929	-0.713406	0.03206	.	.	ENSG00000116726	ENST00000357726	T	0.09350	2.99	2.82	-0.452	0.12205	.	0.854779	0.10573	N	0.658885	T	0.23054	0.0557	M	0.69185	2.1	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.12477	-1.0546	10	0.42905	T	0.14	.	4.2089	0.10502	0.2637:0.1924:0.5439:0.0	.	354	O95522	PRA12_HUMAN	Y	354	ENSP00000350358:D354Y	ENSP00000350358:D354Y	D	+	1	0	PRAMEF12	12759937	0.005000	0.15991	0.000000	0.03702	0.169000	0.22640	-0.005000	0.12855	-0.083000	0.12618	0.195000	0.17529	GAC		PASS	0.592	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		25	92	25	92	---	---	---	---
ZBTB8A	653121	broad.mit.edu	37	1	33059073	33059073	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:33059073A>G	ENST00000373510.4	+	3	770	c.541A>G	c.(541-543)Aat>Gat	p.N181D	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.N181D	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N181D(1)		cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AAAATCTTGGAATAAGTATAA	0.418																																						uc001bvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)AAT>GAT		zinc finger and BTB domain containing 8A							57.0	57.0	57.0					1																	33059073		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33059073A>G	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.541A>G	1.37:g.33059073A>G	ENSP00000362609:p.Asn181Asp					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.N181D	p.N181D	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			3	1026	+			181					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.541A>G	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249577	0.39797	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.14391	2.57;2.51	5.41	5.41	0.78517	.	0.404968	0.25238	U	0.032105	T	0.08223	0.0205	N	0.14661	0.345	0.34456	D	0.701246	B;B	0.17667	0.003;0.023	B;B	0.14023	0.006;0.01	T	0.18999	-1.0319	10	0.10111	T	0.7	-3.8532	13.4975	0.61434	1.0:0.0:0.0:0.0	.	181;181	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	D	181	ENSP00000362609:N181D;ENSP00000317561:N181D	ENSP00000317561:N181D	N	+	1	0	ZBTB8A	32831660	0.999000	0.42202	0.999000	0.59377	0.985000	0.73830	2.703000	0.47110	2.180000	0.69256	0.528000	0.53228	AAT		PASS	0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		15	47	15	47	---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75609574	75609574	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:75609574G>C	ENST00000294638.5	+	7	1319	c.655G>C	c.(655-657)Gtt>Ctt	p.V219L	LHX8_ENST00000356261.3_Missense_Mutation_p.V209L	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	219					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.V219L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGAGCAAGATGTTAACCATCC	0.413																																						uc001dgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(655-657)GTT>CTT		LIM homeobox 8							111.0	109.0	109.0					1																	75609574		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609574G>C	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.655G>C	1.37:g.75609574G>C	ENSP00000294638:p.Val219Leu					LHX8_uc001dgq.2_Missense_Mutation_p.V158L	p.V219L	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			7	1319	+			219					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.655G>C	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533350	0.27387	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86030	-2.06;-2.05	5.63	5.63	0.86233	Homeodomain-like (1);	0.163534	0.53938	D	0.000043	T	0.60779	0.2295	N	0.19112	0.55	0.47183	D	0.999348	B	0.06786	0.001	B	0.06405	0.002	T	0.57418	-0.7815	10	0.11794	T	0.64	.	13.2787	0.60202	0.0726:0.0:0.9274:0.0	.	219	Q68G74	LHX8_HUMAN	L	219;209	ENSP00000294638:V219L;ENSP00000348597:V209L	ENSP00000294638:V219L	V	+	1	0	LHX8	75382162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.353000	0.59411	2.805000	0.96524	0.655000	0.94253	GTT		PASS	0.413	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		13	53	13	53	---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78031388	78031388	+	Silent	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:78031388G>A	ENST00000370801.3	-	15	3124	c.2649C>T	c.(2647-2649)taC>taT	p.Y883Y	ZZZ3_ENST00000370798.1_Silent_p.Y389Y|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	883					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y883Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GAGACACACAGTAGTCTCTGT	0.378																																						uc001dhq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(2647-2649)TAC>TAT		zinc finger, ZZ-type containing 3							179.0	163.0	169.0					1																	78031388		2203	4300	6503	SO:0001819	synonymous_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78031388G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2649C>T	1.37:g.78031388G>A						ZZZ3_uc001dhr.2_Silent_p.Y389Y|ZZZ3_uc001dhp.2_Silent_p.Y882Y	p.Y883Y	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			15	3125	-			883					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	c.2649C>T	CCDS677.1																																																																																				PASS	0.378	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		11	38	11	38	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	79002271	79002271	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:79002271G>T	ENST00000370757.3	+	3	1216	c.979G>T	c.(979-981)Gtc>Ttc	p.V327F	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.V327F	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	327					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.V327F(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TGGAGTGCATGTCATCAGCTT	0.393																																						uc001din.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|skin(1)	6						c.(979-981)GTC>TTC		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						120.0	117.0	118.0					1																	79002271		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002271G>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.979G>T	1.37:g.79002271G>T	ENSP00000359793:p.Val327Phe					PTGFR_uc001dim.2_3'UTR	p.V327F	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1245	+			327			Cytoplasmic (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.979G>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	5.689	0.311610	0.10789	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	D;D	0.90261	-2.64;-2.64	5.85	1.24	0.21308	.	0.374479	0.27618	N	0.018569	T	0.70718	0.3256	L	0.33485	1.01	0.58432	D	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.61633	-0.7023	10	0.09843	T	0.71	-6.1421	11.6313	0.51175	0.4163:0.0:0.5837:0.0	.	327	P43088	PF2R_HUMAN	F	327	ENSP00000359794:V327F;ENSP00000359793:V327F	ENSP00000359793:V327F	V	+	1	0	PTGFR	78774859	0.051000	0.20477	0.844000	0.33320	0.968000	0.65278	0.224000	0.17738	0.298000	0.22638	0.655000	0.94253	GTC		PASS	0.393	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		12	57	12	57	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104116399	104116399	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:104116399G>T	ENST00000361355.4	+	6	1199	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	195					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.A195S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCCAAGATTGCCGAATATAT	0.413																																						uc001duq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GCC>TCC		amylase, pancreatic, alpha-2B precursor							431.0	415.0	421.0					1																	104116399		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104116399G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.583G>T	1.37:g.104116399G>T	ENSP00000354610:p.Ala195Ser					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.A195S|AMY2B_uc001dus.1_5'Flank	p.A195S	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	6	1199	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	195					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.583G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308887	0.60305	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	4.74	4.74	0.60224	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.053747	0.85682	D	0.000000	D	0.97920	0.9316	M	0.76002	2.32	0.80722	D	1	B	0.27853	0.191	B	0.43783	0.431	D	0.98776	1.0730	10	0.51188	T	0.08	.	17.7859	0.88538	0.0:0.0:1.0:0.0	.	195	P19961	AMY2B_HUMAN	S	195	ENSP00000354610:A195S	ENSP00000354610:A195S	A	+	1	0	AMY2B	103917922	1.000000	0.71417	0.184000	0.23157	0.028000	0.11728	7.803000	0.85983	2.204000	0.70986	0.644000	0.83932	GCC		PASS	0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		39	233	39	233	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882752	144882752	+	Silent	SNP	G	G	A	rs369073596		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:144882752G>A	ENST00000369354.3	-	24	3456	c.3267C>T	c.(3265-3267)acC>acT	p.T1089T	PDE4DIP_ENST00000369356.4_Silent_p.T1089T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.T1226T|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Silent_p.T1226T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1089					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.T1089T(2)		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)		GACCCTCTTTGGTTACCACAG	0.493			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3265-3267)ACC>ACT		phosphodiesterase 4D interacting protein isoform							294.0	267.0	276.0					1																	144882752		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882752G>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.3267C>T	1.37:g.144882752G>A						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_Intron|PDE4DIP_uc001elv.3_Silent_p.T96T	p.T1089T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3558	-			1089					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3267C>T	CCDS30824.1																																																																																				PASS	0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		28	235	28	235	---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152785226	152785226	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:152785226G>T	ENST00000360090.3	+	1	780	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	102	Gly-rich.				keratinization (GO:0031424)			p.G102C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCTCCGGGGGCTCCAGCTG	0.622																																						uc001faq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GGC>TGC		late cornified envelope 1B							31.0	39.0	36.0					1																	152785226		2195	4300	6495	SO:0001583	missense	353132				keratinization			g.chr1:152785226G>T	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.304G>T	1.37:g.152785226G>T	ENSP00000353203:p.Gly102Cys						p.G102C	NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	780	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		102			Gly-rich.		A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	c.304G>T	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376741	0.24857	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.04275	3.66	4.68	4.68	0.58851	.	0.000000	0.37857	N	0.001910	T	0.10766	0.0263	M	0.71206	2.165	0.28309	N	0.922782	D	0.76494	0.999	D	0.66847	0.947	T	0.00577	-1.1662	10	0.87932	D	0	.	13.2786	0.60202	0.0:0.0:1.0:0.0	.	102	Q5T7P3	LCE1B_HUMAN	C	102;94	ENSP00000353203:G102C	ENSP00000353203:G102C	G	+	1	0	LCE1B	151051850	0.998000	0.40836	0.997000	0.53966	0.662000	0.39071	1.120000	0.31271	2.592000	0.87571	0.650000	0.86243	GGC		PASS	0.622	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		11	27	11	27	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156814587	156814587	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:156814587T>C	ENST00000368195.3	-	13	2882	c.2486A>G	c.(2485-2487)aAg>aGg	p.K829R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	829	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K829R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACACTGTTCTTGCTGGAGGC	0.592																																						uc010pht.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(2485-2487)AAG>AGG		insulin receptor-related receptor precursor							67.0	67.0	67.0					1																	156814587		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156814587T>C	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2486A>G	1.37:g.156814587T>C	ENSP00000357178:p.Lys829Arg					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.K829R	NM_014215	NP_055030	P14616	INSRR_HUMAN			13	2740	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		829			Fibronectin type-III 3.|Extracellular (Potential).		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2486A>G	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	T	9.369	1.069909	0.20147	.	.	ENSG00000027644	ENST00000368195	T	0.57273	0.41	4.2	3.06	0.35304	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.175198	0.27126	N	0.020819	T	0.16471	0.0396	.	.	.	0.37771	D	0.926669	B	0.02656	0.0	B	0.09377	0.004	T	0.05750	-1.0866	9	0.19147	T	0.46	.	7.4849	0.27427	0.0:0.115:0.0:0.885	.	829	P14616	INSRR_HUMAN	R	829	ENSP00000357178:K829R	ENSP00000357178:K829R	K	-	2	0	INSRR	155081211	0.998000	0.40836	0.998000	0.56505	0.550000	0.35303	3.465000	0.53064	0.655000	0.30866	0.383000	0.25322	AAG		PASS	0.592	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		11	38	11	38	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157514242	157514242	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:157514242C>G	ENST00000361835.3	-	5	811	c.654G>C	c.(652-654)gaG>gaC	p.E218D	FCRL5_ENST00000356953.4_Missense_Mutation_p.E218D|FCRL5_ENST00000368189.3_Missense_Mutation_p.E218D|FCRL5_ENST00000368191.3_Missense_Mutation_p.E133D|FCRL5_ENST00000368190.3_Missense_Mutation_p.E218D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	218	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E218D(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATCTGACCTCTCTAGAGAGA	0.567																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(652-654)GAG>GAC		Fc receptor-like 5							98.0	102.0	100.0					1																	157514242		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514242C>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.654G>C	1.37:g.157514242C>G	ENSP00000354691:p.Glu218Asp					FCRL5_uc009wsm.2_Missense_Mutation_p.E218D|FCRL5_uc010phv.1_Missense_Mutation_p.E218D|FCRL5_uc010phw.1_Missense_Mutation_p.E133D|FCRL5_uc001fqv.1_Missense_Mutation_p.E218D|FCRL5_uc010phx.1_5'UTR	p.E218D	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	812	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	218			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.654G>C	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169100	0.38315	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.46063	0.88;0.91;0.9;1.17;1.17	4.17	1.28	0.21552	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.798070	0.03800	N	0.264241	T	0.19485	0.0468	L	0.43152	1.355	0.19775	N	0.999953	B;B;B;P;B	0.44734	0.054;0.41;0.302;0.842;0.302	B;B;B;P;B	0.46026	0.035;0.099;0.304;0.501;0.304	T	0.06643	-1.0815	10	0.30854	T	0.27	.	3.6582	0.08229	0.0:0.4892:0.1893:0.3215	.	133;218;218;218;218	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	D	218;218;218;133;218	ENSP00000354691:E218D;ENSP00000349434:E218D;ENSP00000357173:E218D;ENSP00000357174:E133D;ENSP00000357172:E218D	ENSP00000349434:E218D	E	-	3	2	FCRL5	155780866	0.355000	0.24921	0.001000	0.08648	0.021000	0.10359	0.217000	0.17603	0.090000	0.17273	-0.373000	0.07131	GAG		PASS	0.567	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		28	109	28	109	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157514827	157514827	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:157514827G>T	ENST00000361835.3	-	4	510	c.353C>A	c.(352-354)tCt>tAt	p.S118Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.S118Y|FCRL5_ENST00000368189.3_Missense_Mutation_p.S118Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.S33Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.S118Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	118					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S118Y(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGAACCACAGAGTCTCCTTC	0.408																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(352-354)TCT>TAT		Fc receptor-like 5							62.0	64.0	63.0					1																	157514827		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514827G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.353C>A	1.37:g.157514827G>T	ENSP00000354691:p.Ser118Tyr					FCRL5_uc009wsm.2_Missense_Mutation_p.S118Y|FCRL5_uc010phv.1_Missense_Mutation_p.S118Y|FCRL5_uc010phw.1_Missense_Mutation_p.S33Y|FCRL5_uc001fqv.1_Missense_Mutation_p.S118Y|FCRL5_uc010phx.1_Translation_Start_Site	p.S118Y	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			4	511	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	118			Extracellular (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.353C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	8.844	0.942845	0.18281	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	4.48	2.62	0.31277	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	5.322590	0.00496	N	0.000159	T	0.29158	0.0725	M	0.89353	3.025	0.09310	N	0.999997	B;B;P;D;P	0.76494	0.133;0.052;0.796;0.999;0.796	B;B;B;D;P	0.70227	0.059;0.036;0.444;0.968;0.575	T	0.02813	-1.1107	10	0.72032	D	0.01	.	8.4438	0.32830	0.1907:0.0:0.8093:0.0	.	33;118;118;118;118	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Y	118;118;118;33;118	ENSP00000354691:S118Y;ENSP00000349434:S118Y;ENSP00000357173:S118Y;ENSP00000357174:S33Y;ENSP00000357172:S118Y	ENSP00000349434:S118Y	S	-	2	0	FCRL5	155781451	0.001000	0.12720	0.003000	0.11579	0.321000	0.28281	0.310000	0.19356	0.529000	0.28599	-0.253000	0.11424	TCT		PASS	0.408	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		14	45	14	45	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262495	158262495	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:158262495G>T	ENST00000368170.3	+	4	999	c.720G>T	c.(718-720)atG>atT	p.M240I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	240	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.M240I(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGACATGGATGCGGAATGAAC	0.542																																						uc001fru.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(718-720)ATG>ATT		CD1C antigen precursor							122.0	119.0	120.0					1																	158262495		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262495G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.720G>T	1.37:g.158262495G>T	ENSP00000357152:p.Met240Ile					CD1C_uc001frv.2_Missense_Mutation_p.M43I	p.M240I	NM_001765	NP_001756	P29017	CD1C_HUMAN			4	1012	+	all_hematologic(112;0.0378)		240			Extracellular (Potential).|Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.720G>T	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	14.05|14.05	2.419051|2.419051	0.42918|0.42918	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170;ENST00000454192	.|T	.|0.13196	.|2.61	3.82|3.82	0.857|0.857	0.19025|0.19025	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|0.298028	.|0.24417	.|N	.|0.038716	T|T	0.11965|0.11965	0.0291|0.0291	M|M	0.64260|0.64260	1.97|1.97	0.09310|0.09310	N|N	1|1	.|D;D	.|0.56521	.|0.976;0.976	.|P;P	.|0.58928	.|0.848;0.848	T|T	0.04607|0.04607	-1.0939|-1.0939	5|10	.|0.87932	.|D	.|0	.|.	5.525|5.525	0.16953|0.16953	0.3675:0.0:0.6325:0.0|0.3675:0.0:0.6325:0.0	.|.	.|240;240	.|E9PGC9;P29017	.|.;CD1C_HUMAN	S|I	175|240;240;43	.|ENSP00000357152:M240I	.|ENSP00000357151:M240I	A|M	+|+	1|3	0|0	CD1C|CD1C	156529119|156529119	0.986000|0.986000	0.35501|0.35501	0.018000|0.018000	0.16275|0.16275	0.000000|0.000000	0.00434|0.00434	2.384000|2.384000	0.44362|0.44362	0.399000|0.399000	0.25367|0.25367	-0.156000|-0.156000	0.13503|0.13503	GCG|ATG		PASS	0.542	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		10	78	10	78	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158299801	158299801	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:158299801C>T	ENST00000368168.3	-	3	555	c.448G>A	c.(448-450)Gtg>Atg	p.V150M		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	150					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.V150M(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGGGAAGGCACACATGAAGCA	0.468																																						uc001frx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(448-450)GTG>ATG		CD1B antigen precursor							157.0	154.0	155.0					1																	158299801		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299801C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.448G>A	1.37:g.158299801C>T	ENSP00000357150:p.Val150Met					CD1B_uc001frw.2_Missense_Mutation_p.V43M	p.V150M	NM_001764	NP_001755	P29016	CD1B_HUMAN			3	556	-	all_hematologic(112;0.0378)		150			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.448G>A	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.27|11.27	1.589154|1.589154	0.28357|0.28357	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	T|T	0.06218|0.07327	3.33|3.2	4.46|4.46	-4.12|-4.12	0.03916|0.03916	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|2.140770	.|0.02218	.|N	.|0.063772	T|T	0.03095|0.03095	0.0091|0.0091	M|M	0.82323|0.82323	2.585|2.585	0.09310|0.09310	N|N	1|1	.|B;B	.|0.33171	.|0.101;0.4	.|B;B	.|0.24848	.|0.026;0.056	T|T	0.35151|0.35151	-0.9800|-0.9800	7|10	0.87932|0.49607	D|T	0|0.09	-0.2579|-0.2579	0.4536|0.4536	0.00505|0.00505	0.3843:0.2176:0.1304:0.2677|0.3843:0.2176:0.1304:0.2677	.|.	.|150;150	.|P29016;P29016-2	.|CD1B_HUMAN;.	Y|M	117|150	ENSP00000395161:C117Y|ENSP00000357150:V150M	ENSP00000395161:C117Y|ENSP00000357150:V150M	C|V	-|-	2|1	0|0	CD1B|CD1B	156566425|156566425	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.551000|0.551000	0.35334|0.35334	-0.868000|-0.868000	0.04236|0.04236	-0.672000|-0.672000	0.05266|0.05266	0.655000|0.655000	0.94253|0.94253	TGT|GTG		PASS	0.468	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		44	169	44	169	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158651411	158651411	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:158651411A>G	ENST00000368147.4	-	4	617	c.437T>C	c.(436-438)cTg>cCg	p.L146P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	146					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L146P(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCCAGGGTCAGCTCTAACAG	0.547																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(436-438)CTG>CCG		spectrin, alpha, erythrocytic 1							129.0	131.0	130.0					1																	158651411		2009	4166	6175	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651411A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.437T>C	1.37:g.158651411A>G	ENSP00000357129:p.Leu146Pro						p.L146P	NM_003126	NP_003117	P02549	SPTA1_HUMAN			4	636	-	all_hematologic(112;0.0378)		146			Spectrin 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.437T>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.458566	0.43634	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56776	0.44;0.44	5.15	5.15	0.70609	.	.	.	.	.	T	0.53481	0.1799	M	0.65975	2.015	0.80722	D	1	P	0.48640	0.913	P	0.61003	0.882	T	0.55976	-0.8055	9	0.33141	T	0.24	.	8.1913	0.31370	0.7294:0.0:0.0:0.2706	.	146	P02549	SPTA1_HUMAN	P	146	ENSP00000357130:L146P;ENSP00000357129:L146P	ENSP00000357129:L146P	L	-	2	0	SPTA1	156918035	1.000000	0.71417	0.960000	0.40013	0.399000	0.30720	3.974000	0.56852	2.155000	0.67459	0.460000	0.39030	CTG		PASS	0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	89	22	89	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158815386	158815386	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:158815386A>C	ENST00000368141.4	+	5	841	c.580A>C	c.(580-582)Acc>Ccc	p.T194P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	194					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T194P(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GAATCAGGAAACCCAGGCCCA	0.507																																						uc001fsz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(580-582)ACC>CCC		myeloid cell nuclear differentiation antigen							43.0	44.0	43.0					1																	158815386		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815386A>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.580A>C	1.37:g.158815386A>C	ENSP00000357123:p.Thr194Pro						p.T194P	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	780	+	all_hematologic(112;0.0378)		194						Missense_Mutation	SNP	ENST00000368141.4	37	c.580A>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	A	0.910	-0.719487	0.03182	.	.	ENSG00000163563	ENST00000368141	T	0.05580	3.42	3.44	-6.88	0.01665	.	4.850960	0.01398	N	0.013497	T	0.00967	0.0032	N	0.21194	0.64	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37572	-0.9700	10	0.27082	T	0.32	.	3.9911	0.09537	0.1563:0.3878:0.3492:0.1067	.	194	P41218	MNDA_HUMAN	P	194	ENSP00000357123:T194P	ENSP00000357123:T194P	T	+	1	0	MNDA	157082010	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.463000	0.02361	-2.914000	0.00307	-1.117000	0.02048	ACC		PASS	0.507	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		7	22	7	22	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160098516	160098516	+	Silent	SNP	G	G	T	rs55741021	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:160098516G>T	ENST00000361216.3	+	9	1181	c.1092G>T	c.(1090-1092)acG>acT	p.T364T	ATP1A2_ENST00000392233.3_Silent_p.T364T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	364					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.T364T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGTGGAGACGCTGGGCTCCA	0.582																																						uc001fvc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1090-1092)ACG>ACT		Na+/K+ -ATPase alpha 2 subunit proprotein							121.0	102.0	108.0					1																	160098516		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098516G>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1092G>T	1.37:g.160098516G>T						ATP1A2_uc001fvb.2_Silent_p.T364T|ATP1A2_uc010piz.1_Silent_p.T209T|ATP1A2_uc001fvd.2_Silent_p.T100T|ATP1A2_uc009wtg.1_Silent_p.T52T	p.T364T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1224	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		364			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1092G>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446557	0.25987	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	-4.34	0.03666	.	.	.	.	.	T	0.18841	0.0452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40496	-0.9560	4	.	.	.	.	0.498	0.00575	0.2165:0.2537:0.2482:0.2816	.	.	.	.	L	75	.	.	R	+	2	0	ATP1A2	158365140	0.000000	0.05858	0.973000	0.42090	0.998000	0.95712	-2.865000	0.00724	-0.677000	0.05231	0.561000	0.74099	CGC		PASS	0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		18	71	18	71	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175325455	175325455	+	Splice_Site	SNP	G	G	C	rs146606650		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:175325455G>C	ENST00000367674.2	-	16	3826	c.3118C>G	c.(3118-3120)Ctc>Gtc	p.L1040V	TNR_ENST00000263525.2_Splice_Site_p.L1040V			Q92752	TENR_HUMAN	tenascin R	1040	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.L1040V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGTACTCACGAGTAGAAAAG	0.493																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3118-3120)CTC>GTC		tenascin R precursor							241.0	212.0	222.0					1																	175325455		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325455G>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3118+1C>G	1.37:g.175325455G>C						TNR_uc009wwu.1_Missense_Mutation_p.L1040V	p.L1040V	NM_003285	NP_003276	Q92752	TENR_HUMAN			14	3199	-	Renal(580;0.146)		1040			Fibronectin type-III 9.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3118C>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166691	0.38217	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56444	0.46;0.46	5.5	3.63	0.41609	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.147080	0.44285	D	0.000465	T	0.29355	0.0731	N	0.17474	0.49	0.38534	D	0.949049	B	0.29835	0.258	B	0.24974	0.057	T	0.11743	-1.0575	9	.	.	.	.	6.1922	0.20530	0.1549:0.0:0.6941:0.151	.	1040	Q92752	TENR_HUMAN	V	1040;1040;950	ENSP00000356646:L1040V;ENSP00000263525:L1040V	.	L	-	1	0	TNR	173592078	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.414000	0.59802	1.318000	0.45170	0.655000	0.94253	CTC		PASS	0.493	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Missense_Mutation	20	86	20	86	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372396	175372396	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:175372396C>A	ENST00000367674.2	-	4	1564	c.856G>T	c.(856-858)Ggc>Tgc	p.G286C	TNR_ENST00000263525.2_Missense_Mutation_p.G286C			Q92752	TENR_HUMAN	tenascin R	286	Cys-rich.|EGF-like 4.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.G286C(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAACGTAGCCCTCCTCGCAT	0.612																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(856-858)GGC>TGC		tenascin R precursor							133.0	88.0	103.0					1																	175372396		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372396C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.856G>T	1.37:g.175372396C>A	ENSP00000356646:p.Gly286Cys					TNR_uc009wwu.1_Missense_Mutation_p.G286C|TNR_uc010pmz.1_Missense_Mutation_p.G286C	p.G286C	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	937	-	Renal(580;0.146)		286			Cys-rich.|EGF-like 4.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.856G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514455	0.64522	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.25749	1.78;1.78	6.04	4.18	0.49190	EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78191	-0.2300	10	0.87932	D	0	.	12.5832	0.56401	0.0:0.865:0.0:0.135	.	286;286	B4DIX8;Q92752	.;TENR_HUMAN	C	286	ENSP00000356646:G286C;ENSP00000263525:G286C	ENSP00000263525:G286C	G	-	1	0	TNR	173639019	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.706000	0.84615	0.892000	0.36259	0.561000	0.74099	GGC		PASS	0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		12	44	12	44	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180044231	180044231	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:180044231G>C	ENST00000367607.3	+	28	6060	c.5642G>C	c.(5641-5643)cGt>cCt	p.R1881P		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1881					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R1881P(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGAAGCGACGTTTAGATGCA	0.428																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(5641-5643)CGT>CCT		centrosome-associated protein 350							69.0	62.0	64.0					1																	180044231		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180044231G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5642G>C	1.37:g.180044231G>C	ENSP00000356579:p.Arg1881Pro					CEP350_uc009wxl.2_Missense_Mutation_p.R1880P|CEP350_uc001gnv.2_Missense_Mutation_p.R16P	p.R1881P	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			28	6025	+			1881			Potential.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5642G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723818	0.89298	.	.	ENSG00000135837	ENST00000367607	T	0.54866	0.55	5.81	5.81	0.92471	.	0.000000	0.43747	D	0.000532	T	0.71837	0.3387	M	0.64997	1.995	0.50171	D	0.999851	D;D	0.89917	0.999;1.0	D;D	0.83275	0.995;0.996	T	0.68663	-0.5349	9	.	.	.	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	1881;1881	E7EU22;Q5VT06	.;CE350_HUMAN	P	1881	ENSP00000356579:R1881P	.	R	+	2	0	CEP350	178310854	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.470000	0.66756	2.746000	0.94184	0.591000	0.81541	CGT		PASS	0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		15	42	15	42	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197316598	197316598	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:197316598A>C	ENST00000367400.3	+	4	1112	c.977A>C	c.(976-978)cAc>cCc	p.H326P	CRB1_ENST00000538660.1_Missense_Mutation_p.H326P|CRB1_ENST00000543483.1_Missense_Mutation_p.H25P|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.H257P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	326	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H326P(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TACACTTGTCACTGCTGGCCT	0.373																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(976-978)CAC>CCC		crumbs homolog 1 precursor							133.0	108.0	116.0					1																	197316598		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197316598A>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.977A>C	1.37:g.197316598A>C	ENSP00000356370:p.His326Pro					CRB1_uc010poz.1_Missense_Mutation_p.H257P|CRB1_uc001gty.1_Missense_Mutation_p.H326P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.H326P|CRB1_uc010ppc.1_RNA	p.H326P	NM_201253	NP_957705	P82279	CRUM1_HUMAN			4	1112	+			326			Extracellular (Potential).|EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.977A>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610486	0.46527	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000543483	D;D;D;D	0.92446	-2.25;-2.25;-2.25;-3.04	5.22	4.09	0.47781	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92221	0.7533	L	0.60904	1.88	0.80722	D	1	D;D;D;D	0.67145	0.989;0.98;0.991;0.996	P;P;P;P	0.59115	0.689;0.804;0.821;0.852	D	0.88962	0.3394	9	0.30854	T	0.27	.	6.0011	0.19521	0.7769:0.0:0.0785:0.1447	.	326;257;326;351	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	P	257;326;326;25	ENSP00000438786:H257P;ENSP00000438091:H326P;ENSP00000356370:H326P;ENSP00000439579:H25P	ENSP00000356370:H326P	H	+	2	0	CRB1	195583221	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.679000	0.37597	0.821000	0.34540	0.477000	0.44152	CAC		PASS	0.373	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		13	40	13	40	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204951142	204951142	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:204951142G>T	ENST00000401399.1	+	20	2663	c.2464G>T	c.(2464-2466)Gaa>Taa	p.E822*	NFASC_ENST00000367171.4_Nonsense_Mutation_p.E807*|NFASC_ENST00000367172.4_Nonsense_Mutation_p.E822*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.E818*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.E822*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.E818*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.E822*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.E822*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.E822*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.E801*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.E818*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.E818*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.E822*			O94856	NFASC_HUMAN	neurofascin	822	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.E822*(1)|p.E818*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTACTCCGGAGAAGATTGTGA	0.612																																						uc001hbj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2464-2466)GAA>TAA		neurofascin isoform 1 precursor							45.0	44.0	44.0					1																	204951142		2203	4300	6503	SO:0001587	stop_gained	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204951142G>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2464G>T	1.37:g.204951142G>T	ENSP00000385637:p.Glu822*					NFASC_uc010pra.1_Nonsense_Mutation_p.E818*|NFASC_uc001hbi.2_Nonsense_Mutation_p.E818*|NFASC_uc010prb.1_Nonsense_Mutation_p.E833*|NFASC_uc010prc.1_Nonsense_Mutation_p.E389*|NFASC_uc001hbk.1_Nonsense_Mutation_p.E628*|NFASC_uc001hbl.1_Nonsense_Mutation_p.E72*	p.E822*	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		21	2792	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		822			Extracellular (Potential).		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Nonsense_Mutation	SNP	ENST00000401399.1	37	c.2464G>T	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.362560|12.362560	0.99661|0.99661	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000070|0.000070	T|.	0.81592|.	0.4855|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83556|.	0.0104|.	4|.	.|0.87932	.|D	.|0	.|.	19.1148|19.1148	0.93334|0.93334	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	791;53|822;807;822;822;822;822;833;818;818;822;801;822;818;818;809	.|.	.|ENSP00000295776:E833X	E|E	+|+	3|1	2|0	NFASC|NFASC	203217765|203217765	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.952000|0.952000	0.60782|0.60782	9.806000|9.806000	0.99153|0.99153	2.614000|2.614000	0.88457|0.88457	0.563000|0.563000	0.77884|0.77884	GAG|GAA		PASS	0.612	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		5	12	5	12	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233134126	233134126	+	Missense_Mutation	SNP	C	C	G	rs376936506		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:233134126C>G	ENST00000258229.9	-	32	5896	c.5662G>C	c.(5662-5664)Gga>Cga	p.G1888R	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G540R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1888						integral component of membrane (GO:0016021)		p.G1888R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCCCTCCTCCGTCCACGTCT	0.617																																						uc001hvl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(5662-5664)GGA>CGA		pecanex-like 2							44.0	47.0	46.0					1																	233134126		1987	4157	6144	SO:0001583	missense	80003					integral to membrane		g.chr1:233134126C>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5662G>C	1.37:g.233134126C>G	ENSP00000258229:p.Gly1888Arg					PCNXL2_uc001hvk.1_Missense_Mutation_p.G540R|PCNXL2_uc001hvm.1_RNA	p.G1888R	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			32	5897	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1888					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.5662G>C	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363381	0.41902	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.23147	1.92;3.09	5.71	2.38	0.29361	.	0.501356	0.24115	N	0.041415	T	0.18299	0.0439	L	0.43152	1.355	0.21841	N	0.999517	B;B	0.18461	0.028;0.004	B;B	0.17433	0.018;0.012	T	0.16867	-1.0388	10	0.52906	T	0.07	.	4.0889	0.09960	0.166:0.4871:0.0:0.3469	.	1888;540	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	R	540;1888	ENSP00000340759:G540R;ENSP00000258229:G1888R	ENSP00000258229:G1888R	G	-	1	0	PCNXL2	231200749	0.003000	0.15002	0.001000	0.08648	0.083000	0.17756	0.852000	0.27764	0.775000	0.33450	0.563000	0.77884	GGA		PASS	0.617	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		8	22	8	22	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237604759	237604759	+	Silent	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:237604759G>A	ENST00000366574.2	+	13	1463	c.1146G>A	c.(1144-1146)gtG>gtA	p.V382V	RYR2_ENST00000542537.1_Silent_p.V366V|RYR2_ENST00000360064.6_Silent_p.V380V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	382	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V380V(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)			TGAAATCCGTGAGAATGGGAT	0.348																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1144-1146)GTG>GTA		cardiac muscle ryanodine receptor							139.0	129.0	132.0					1																	237604759		1853	4109	5962	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.chr1:237604759G>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.1146G>A	1.37:g.237604759G>A							p.V382V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1266	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	382			Cytoplasmic (By similarity).|MIR 5.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1146G>A	CCDS55691.1																																																																																				PASS	0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	83	16	83	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237778056	237778056	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:237778056A>T	ENST00000366574.2	+	37	5945	c.5628A>T	c.(5626-5628)caA>caT	p.Q1876H	RYR2_ENST00000542537.1_Missense_Mutation_p.Q1860H|RYR2_ENST00000360064.6_Missense_Mutation_p.Q1874H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1876	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.Q1874H(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)			CAAAGCTGCAAGGAGCTGGTG	0.532																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5626-5628)CAA>CAT		cardiac muscle ryanodine receptor							48.0	51.0	50.0					1																	237778056		2044	4181	6225	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237778056A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5628A>T	1.37:g.237778056A>T	ENSP00000355533:p.Gln1876His						p.Q1876H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5748	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1876			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5628A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269418	0.23221	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73047	-0.71;-0.71;-0.71	5.09	1.33	0.21861	.	0.152271	0.29707	N	0.011408	T	0.45013	0.1321	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.18935	-1.0321	10	0.66056	D	0.02	.	5.2758	0.15649	0.6767:0.1478:0.1755:0.0	.	1876	Q92736	RYR2_HUMAN	H	1876;1874;1860	ENSP00000355533:Q1876H;ENSP00000353174:Q1874H;ENSP00000443798:Q1860H	ENSP00000353174:Q1874H	Q	+	3	2	RYR2	235844679	1.000000	0.71417	0.523000	0.27875	0.334000	0.28698	1.176000	0.31957	0.064000	0.16427	0.528000	0.53228	CAA		PASS	0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	41	8	41	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237817703	237817703	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:237817703C>T	ENST00000366574.2	+	52	8271	c.7954C>T	c.(7954-7956)Ctg>Ttg	p.L2652L	RYR2_ENST00000542537.1_Silent_p.L2636L|RYR2_ENST00000360064.6_Silent_p.L2650L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2652	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.L2650L(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)			TTTTGATGCCCTGTCTCAAAA	0.383																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7954-7956)CTG>TTG		cardiac muscle ryanodine receptor							85.0	84.0	84.0					1																	237817703		1839	4087	5926	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.chr1:237817703C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7954C>T	1.37:g.237817703C>T							p.L2652L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		52	8074	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2652			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.7954C>T	CCDS55691.1																																																																																				PASS	0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	28	6	28	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248201806	248201806	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:248201806G>C	ENST00000366479.2	+	1	333	c.237G>C	c.(235-237)aaG>aaC	p.K79N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K79N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			TTGTTCCAAAGAtggtttatg	0.408																																						uc001idw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(235-237)AAG>AAC		olfactory receptor, family 2, subfamily L,							242.0	219.0	227.0					1																	248201806		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201806G>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.237G>C	1.37:g.248201806G>C	ENSP00000355435:p.Lys79Asn					OR2L13_uc001ids.2_Intron	p.K79N	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	333	+	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)		79			Extracellular (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.237G>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	6.386	0.439417	0.12104	.	.	ENSG00000203663	ENST00000366479	T	0.00469	7.21	1.9	-0.866	0.10659	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33180	U	0.005181	T	0.00440	0.0014	M	0.79693	2.465	0.09310	N	1	P	0.36282	0.546	B	0.34873	0.191	T	0.48234	-0.9053	10	0.87932	D	0	.	3.3073	0.07005	0.5435:0.0:0.2688:0.1877	.	79	Q8NH16	OR2L2_HUMAN	N	79	ENSP00000355435:K79N	ENSP00000355435:K79N	K	+	3	2	OR2L2	246268429	0.000000	0.05858	0.020000	0.16555	0.131000	0.20780	-2.226000	0.01211	-0.086000	0.12550	0.194000	0.17425	AAG		PASS	0.408	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		32	157	32	157	---	---	---	---
SH3BP5L	80851	broad.mit.edu	37	1	249106437	249106437	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr1:249106437G>A	ENST00000366472.5	-	7	2073	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.H250Y	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	282								p.H282Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCCAGGGGGTGGGGAGGCAGA	0.716																																						uc001iew.1																			1	Substitution - Missense(1)		lung(1)		0						c.(844-846)CAC>TAC		SH3-binding domain protein 5-like							21.0	24.0	23.0					1																	249106437		2202	4299	6501	SO:0001583	missense	80851							g.chr1:249106437G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.844C>T	1.37:g.249106437G>A	ENSP00000355428:p.His282Tyr					SH3BP5L_uc010pzp.1_Missense_Mutation_p.H175Y|SH3BP5L_uc010pzq.1_Missense_Mutation_p.H250Y|SH3BP5L_uc001iev.1_Missense_Mutation_p.H163Y	p.H282Y	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1396	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	282					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.844C>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	2.119	-0.401787	0.04865	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.06	4.06	0.47325	.	0.542585	0.19654	N	0.109132	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	P;B;B;B	0.36974	0.576;0.432;0.2;0.2	B;B;B;B	0.39119	0.154;0.291;0.068;0.108	T	0.09662	-1.0664	9	0.48119	T	0.1	-33.4037	9.3757	0.38281	0.0:0.0:0.7868:0.2132	.	250;175;282;140	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	Y	282;250	.	ENSP00000355428:H282Y	H	-	1	0	SH3BP5L	247073060	0.999000	0.42202	0.267000	0.24556	0.416000	0.31233	3.685000	0.54678	2.271000	0.75665	0.313000	0.20887	CAC		PASS	0.716	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		4	15	4	15	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1544431	1544431	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:1544431G>A	ENST00000345913.4	+	16	2775	c.2684G>A	c.(2683-2685)aGa>aAa	p.R895K	TPO_ENST00000346956.3_Missense_Mutation_p.R851K|TPO_ENST00000329066.4_Missense_Mutation_p.R895K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.R838K|TPO_ENST00000349624.3_Missense_Mutation_p.R722K|TPO_ENST00000337415.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.R722K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	895					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.R895K(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCGAGCTGAGATGCGGAAAG	0.637																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(2683-2685)AGA>AAA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						86.0	72.0	77.0					2																	1544431		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1544431G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2684G>A	2.37:g.1544431G>A	ENSP00000318820:p.Arg895Lys					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.R838K|TPO_uc002qwr.2_Missense_Mutation_p.R895K|TPO_uc002qwx.2_Missense_Mutation_p.R838K|TPO_uc010yio.1_Missense_Mutation_p.R722K|TPO_uc010yip.1_Missense_Mutation_p.R851K|TPO_uc002qwy.1_Missense_Mutation_p.R191K|TPO_uc002qwz.2_Intron	p.R895K	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	16	2775	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	895			Cytoplasmic (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2684G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	0.218	-1.031363	0.02029	.	.	ENSG00000115705	ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607;ENST00000425083	T;T;T;T;T;T;T;T;T	0.69306	-0.12;-0.17;0.13;-0.12;-0.06;0.13;-0.23;0.6;-0.39	1.31	1.31	0.21738	.	3.070090	0.02285	N	0.069772	T	0.42337	0.1198	N	0.08118	0	0.09310	N	0.999992	B;B;B;B	0.21452	0.056;0.056;0.056;0.039	B;B;B;B	0.20384	0.01;0.022;0.029;0.006	T	0.45862	-0.9232	10	0.05351	T	0.99	-10.0361	6.0554	0.19809	0.0:0.0:1.0:0.0	.	851;722;838;895	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	K	895;851;722;895;838;722;780;325;116	ENSP00000318820:R895K;ENSP00000263886:R851K;ENSP00000332044:R722K;ENSP00000329869:R895K;ENSP00000371636:R838K;ENSP00000371633:R722K;ENSP00000405788:R780K;ENSP00000419461:R325K;ENSP00000389659:R116K	ENSP00000329869:R895K	R	+	2	0	TPO	1523438	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-0.123000	0.10611	1.018000	0.39521	0.306000	0.20318	AGA		PASS	0.637	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	49	13	49	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11696853	11696853	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:11696853C>T	ENST00000381486.2	+	2	413	c.113C>T	c.(112-114)tCc>tTc	p.S38F	GREB1_ENST00000381483.2_Missense_Mutation_p.S38F|GREB1_ENST00000263834.5_Missense_Mutation_p.S38F|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.S38F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	38						integral component of membrane (GO:0016021)		p.S38F(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCATCTTTTCCCAGCTGTAC	0.522																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(112-114)TCC>TTC		growth regulation by estrogen in breast cancer 1							79.0	71.0	74.0					2																	11696853		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11696853C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.113C>T	2.37:g.11696853C>T	ENSP00000370896:p.Ser38Phe					GREB1_uc002rbl.2_Missense_Mutation_p.S38F|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.S38F	p.S38F	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	2	413	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		38					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.113C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771501	0.90108	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.28454	2.67;1.61;1.64;2.67	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.55657	0.1934	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.986;0.964;0.998	T	0.60821	-0.7187	10	0.87932	D	0	-5.0453	18.0012	0.89198	0.0:1.0:0.0:0.0	.	38;38;38	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	F	38	ENSP00000370896:S38F;ENSP00000263834:S38F;ENSP00000370892:S38F;ENSP00000234142:S38F	ENSP00000234142:S38F	S	+	2	0	GREB1	11614304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.354000	0.79424	2.329000	0.79093	0.655000	0.94253	TCC		PASS	0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		5	38	5	38	---	---	---	---
SRSF7	6432	broad.mit.edu	37	2	38975742	38975742	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:38975742C>T	ENST00000313117.6	-	4	677	c.440G>A	c.(439-441)cGc>cAc	p.R147H	SRSF7_ENST00000409276.1_Missense_Mutation_p.R147H|SRSF7_ENST00000446327.2_Missense_Mutation_p.R147H|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	147	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R147H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCTCCTGCTGCGTGAGCGAGA	0.398																																						uc002rqz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CGC>CAC		splicing factor, arginine/serine-rich 7							104.0	105.0	104.0					2																	38975742		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38975742C>T	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.440G>A	2.37:g.38975742C>T	ENSP00000325905:p.Arg147His					SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.R147H|GEMIN6_uc002rrb.2_5'Flank	p.R147H	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN			4	678	-		all_hematologic(82;0.248)	147			Arg/Ser-rich (RS domain).		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.440G>A	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165572	0.21538	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.13901	2.55;2.55;2.97	5.95	3.23	0.37069	.	0.094163	0.46758	D	0.000261	T	0.13841	0.0335	L	0.55990	1.75	0.48696	D	0.999698	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.05178	-1.0901	10	0.30078	T	0.28	.	11.3308	0.49475	0.0:0.8048:0.0:0.1952	.	147;147	G5E9M3;Q16629	.;SRSF7_HUMAN	H	147	ENSP00000325905:R147H;ENSP00000402264:R147H;ENSP00000386806:R147H	ENSP00000325905:R147H	R	-	2	0	SRSF7	38829246	0.999000	0.42202	0.620000	0.29132	0.997000	0.91878	4.418000	0.59828	0.430000	0.26230	0.655000	0.94253	CGC		PASS	0.398	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		12	59	12	59	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63486509	63486509	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:63486509C>A	ENST00000272321.7	-	14	2375	c.1848G>T	c.(1846-1848)ttG>ttT	p.L616F	WDPCP_ENST00000398544.3_Missense_Mutation_p.L457F|WDPCP_ENST00000409199.1_Missense_Mutation_p.L424F|WDPCP_ENST00000409562.3_Intron|WDPCP_ENST00000409120.1_Missense_Mutation_p.L424F	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	616					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L616F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CAGCTAGTGCCAATTCACCTT	0.358																																						uc002sch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1846-1848)TTG>TTT		hypothetical protein LOC51057 isoform 2							128.0	122.0	124.0					2																	63486509		1831	4082	5913	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63486509C>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1848G>T	2.37:g.63486509C>A	ENSP00000272321:p.Leu616Phe					C2orf86_uc002sce.2_Intron|C2orf86_uc002scf.2_Missense_Mutation_p.L457F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.L424F	p.L616F	NM_015910	NP_056994	O95876	FRITZ_HUMAN			14	2294	-			616					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1848G>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699427	0.68501	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.42	4.55	0.56014	.	0.103088	0.41500	D	0.000880	T	0.50871	0.1641	L	0.37630	1.12	0.80722	D	1	P;D	0.56746	0.828;0.977	B;P	0.53760	0.437;0.734	T	0.54938	-0.8218	10	0.72032	D	0.01	-2.0153	14.1634	0.65461	0.0:0.9277:0.0:0.0723	.	616;457	O95876;O95876-3	FRITZ_HUMAN;.	F	616;424;424;457	ENSP00000272321:L616F;ENSP00000386592:L424F;ENSP00000386769:L424F;ENSP00000381552:L457F	ENSP00000272321:L616F	L	-	3	2	WDPCP	63340013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.370000	0.52372	1.296000	0.44742	0.591000	0.81541	TTG		PASS	0.358	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		11	48	11	48	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043036	74043036	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:74043036C>T	ENST00000409561.1	+	3	1807	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	562	Lys-rich.							p.I562I(1)|p.I532I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGCAGGATCAGCAAAACTA	0.473																																						uc002sjr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1684-1686)ATC>ATT		hypothetical protein LOC388960							60.0	58.0	58.0					2																	74043036		1928	4151	6079	SO:0001819	synonymous_variant	388960							g.chr2:74043036C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1686C>T	2.37:g.74043036C>T							p.I562I	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1807	+			562			Lys-rich.			Silent	SNP	ENST00000409561.1	37	c.1686C>T	CCDS46338.1																																																																																				PASS	0.473	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		9	40	9	40	---	---	---	---
CD8A	925	broad.mit.edu	37	2	87017523	87017523	+	Missense_Mutation	SNP	C	C	A	rs121918660		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:87017523C>A	ENST00000409511.2	-	5	1361	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	CD8A_ENST00000456996.2_Missense_Mutation_p.G111C|CD8A_ENST00000352580.3_Missense_Mutation_p.G111C|CD8A_ENST00000283635.3_Missense_Mutation_p.G111C|CD8A_ENST00000409781.1_Missense_Mutation_p.G111C|CD8A_ENST00000538832.1_Missense_Mutation_p.G152C	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	111	Ig-like V-type.		G -> S (in CD8 deficiency; prevents CD8 expression). {ECO:0000269|PubMed:11435463}.		antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.G111C(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AAATAGTAGCCCTCGTTCTCT	0.652																																						uc002srt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM012083	CD8A	M	rs121918660	c.(331-333)GGC>TGC		CD8 antigen alpha polypeptide isoform 1							57.0	62.0	61.0					2																	87017523		2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87017523C>A		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.331G>T	2.37:g.87017523C>A	ENSP00000386559:p.Gly111Cys					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.G111C|CD8A_uc010ytn.1_Missense_Mutation_p.G152C|CD8A_uc002sru.2_Missense_Mutation_p.G111C	p.G111C	NM_001768	NP_001759	P01732	CD8A_HUMAN			2	1220	-			111	G->R: Prevents CD8 expression.	G -> S (in CD8 deficiency; prevents CD8 expression).	Ig-like V-type.|Extracellular (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.331G>T	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750944	0.49257	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.69	4.69	0.59074	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.89785	3.06	0.51767	D	0.999937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88474	0.3064	10	0.87932	D	0	-44.9683	12.9903	0.58614	0.0:1.0:0.0:0.0	.	152;111;111	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	C	111;111;111;111;96;152;111	ENSP00000398868:G111C;ENSP00000321631:G111C;ENSP00000283635:G111C;ENSP00000386559:G111C;ENSP00000438371:G152C;ENSP00000387314:G111C	ENSP00000283635:G111C	G	-	1	0	CD8A	86871034	0.982000	0.34865	0.947000	0.38551	0.101000	0.19017	3.289000	0.51747	2.421000	0.82119	0.561000	0.74099	GGC		PASS	0.652	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		12	50	12	50	---	---	---	---
LIMS1	3987	broad.mit.edu	37	2	109276214	109276214	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:109276214C>T	ENST00000393310.1	+	2	317	c.150C>T	c.(148-150)ttC>ttT	p.F50F	LIMS1_ENST00000332345.6_Silent_p.F50F|LIMS1_ENST00000409441.1_Silent_p.F87F|LIMS1_ENST00000542845.1_Silent_p.F112F|LIMS1_ENST00000338045.3_Silent_p.F50F|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000393314.2_Silent_p.F112F|LIMS1_ENST00000544547.1_Silent_p.F62F|LIMS1_ENST00000410093.1_Silent_p.F54F	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	50	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)	p.F50F(1)|p.F112F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						AAGGACTCTTCTATGAGGTGA	0.552																																						uc002teg.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(148-150)TTC>TTT		LIM and senescent cell antigen-like domains 1							61.0	49.0	53.0					2																	109276214		2203	4295	6498	SO:0001819	synonymous_variant	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109276214C>T		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.150C>T	2.37:g.109276214C>T						LIMS1_uc002tef.2_Silent_p.F62F|LIMS1_uc002teh.2_Silent_p.F50F|LIMS1_uc002tei.2_Silent_p.F50F|LIMS1_uc002tej.2_Silent_p.F87F|LIMS1_uc002tek.3_Silent_p.F112F	p.F50F	NM_004987	NP_004978	P48059	LIMS1_HUMAN			2	269	+			50			LIM zinc-binding 1.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	ENST00000393310.1	37	c.150C>T	CCDS2078.1																																																																																				PASS	0.552	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		12	69	12	69	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116548748	116548748	+	Silent	SNP	C	C	T	rs527717569	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:116548748C>T	ENST00000410059.1	+	18	2103	c.1623C>T	c.(1621-1623)gaC>gaT	p.D541D	DPP10_ENST00000310323.8_Silent_p.D534D|DPP10_ENST00000409163.1_Silent_p.D491D|DPP10_ENST00000393147.2_Silent_p.D545D	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	541						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.D534D(1)|p.D541D(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCATATTGACGACTATGGTA	0.328													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15880	0.0		0.0	False		,,,				2504	0.0					uc002tla.1																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1621-1623)GAC>GAT		dipeptidyl peptidase 10 isoform long							73.0	77.0	75.0					2																	116548748		2200	4300	6500	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548748C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1623C>T	2.37:g.116548748C>T						DPP10_uc002tlb.1_Silent_p.D491D|DPP10_uc002tlc.1_Silent_p.D537D|DPP10_uc002tle.2_Silent_p.D545D|DPP10_uc002tlf.1_Silent_p.D534D	p.D541D	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			18	2080	+			541			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.1623C>T	CCDS46400.1																																																																																				PASS	0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		5	47	5	47	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128522490	128522490	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:128522490C>A	ENST00000322313.4	-	6	696	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	WDR33_ENST00000409658.3_Missense_Mutation_p.D180Y|WDR33_ENST00000393006.1_Missense_Mutation_p.D180Y	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	180					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D180Y(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTCCGTGGTCTGCTGTCAAC	0.468																																						uc002tpg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(538-540)GAC>TAC		WD repeat domain 33 isoform 1							140.0	106.0	117.0					2																	128522490		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128522490C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.538G>T	2.37:g.128522490C>A	ENSP00000325377:p.Asp180Tyr					WDR33_uc002tph.1_Missense_Mutation_p.D180Y|WDR33_uc002tpi.1_Missense_Mutation_p.D180Y	p.D180Y	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	6	721	-	Colorectal(110;0.1)		180			WD 2.		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.538G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039351	0.75617	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.89069	0.3468	10	0.87932	D	0	-14.278	19.8478	0.96722	0.0:1.0:0.0:0.0	.	180;180;180	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	Y	180;102;180;180	ENSP00000325377:D180Y;ENSP00000397547:D102Y;ENSP00000376730:D180Y;ENSP00000387186:D180Y	ENSP00000325377:D180Y	D	-	1	0	WDR33	128238960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.698000	0.92095	0.655000	0.94253	GAC		PASS	0.468	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		8	45	8	45	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144194488	144194488	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:144194488G>T	ENST00000295095.6	+	8	747	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000550516.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	194					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.D194Y(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CCAGCCAAAGGATTCAAGTTG	0.333																																						uc002tvm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(580-582)GAT>TAT		ARHGAP15							58.0	59.0	59.0					2																	144194488		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144194488G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.580G>T	2.37:g.144194488G>T	ENSP00000295095:p.Asp194Tyr					ARHGAP15_uc010zbl.1_Missense_Mutation_p.D194Y|ARHGAP15_uc002tvn.2_5'UTR	p.D194Y	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	8	731	+			194					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.580G>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209305	0.39003	.	.	ENSG00000075884	ENST00000295095	T	0.79454	-1.27	5.55	1.26	0.21427	.	0.670897	0.15101	N	0.280522	T	0.68659	0.3025	L	0.29908	0.895	0.28508	N	0.913668	P;B	0.35844	0.524;0.209	B;B	0.41946	0.371;0.306	T	0.63350	-0.6657	10	0.72032	D	0.01	.	8.1684	0.31241	0.3484:0.0:0.6516:0.0	.	194;194	B4E0R3;Q53QZ3	.;RHG15_HUMAN	Y	194	ENSP00000295095:D194Y	ENSP00000295095:D194Y	D	+	1	0	ARHGAP15	143910958	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	0.362000	0.20284	0.160000	0.19432	0.650000	0.86243	GAT		PASS	0.333	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		9	33	9	33	---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152732997	152732997	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:152732997A>G	ENST00000539935.1	-	5	531	c.464T>C	c.(463-465)cTc>cCc	p.L155P	CACNB4_ENST00000360283.6_Missense_Mutation_p.L121P|CACNB4_ENST00000397327.2_Missense_Mutation_p.L108P|CACNB4_ENST00000427385.1_Missense_Mutation_p.L137P|CACNB4_ENST00000534999.1_Missense_Mutation_p.L121P|CACNB4_ENST00000201943.5_Missense_Mutation_p.L155P	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	155					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.L155P(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCAATCTGAGTGGACTTGG	0.398																																						uc002tya.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(463-465)CTC>CCC		calcium channel, voltage-dependent, beta 4	Verapamil(DB00661)						123.0	119.0	120.0					2																	152732997		1917	4153	6070	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152732997A>G	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.464T>C	2.37:g.152732997A>G	ENSP00000438949:p.Leu155Pro					CACNB4_uc002txy.2_Missense_Mutation_p.L121P|CACNB4_uc002txz.2_Missense_Mutation_p.L137P|CACNB4_uc010fnz.2_Missense_Mutation_p.L155P|CACNB4_uc002tyb.2_Missense_Mutation_p.L121P	p.L155P	NM_000726	NP_000717	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	5	532	-			155					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.464T>C	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370803	0.82573	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254;ENST00000434468	D;D;D;D;D;D;D;T	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.38	5.63	5.63	0.86233	Src homology-3 domain (2);	0.064481	0.64402	D	0.000005	D	0.84401	0.5464	L	0.58101	1.795	0.80722	D	1	D;P;P;P;P	0.67145	0.996;0.716;0.951;0.916;0.95	P;P;P;P;P	0.51657	0.676;0.501;0.528;0.528;0.609	D	0.85786	0.1364	10	0.66056	D	0.02	-11.8278	11.2536	0.49041	0.8636:0.0:0.0:0.1364	.	155;121;155;137;121	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	P	155;121;112;150;121;108;137;155;155;108	ENSP00000438949:L155P;ENSP00000353425:L121P;ENSP00000390161:L150P;ENSP00000443893:L121P;ENSP00000380490:L108P;ENSP00000410978:L137P;ENSP00000201943:L155P;ENSP00000399242:L108P	ENSP00000201943:L155P	L	-	2	0	CACNB4	152441243	1.000000	0.71417	0.469000	0.27204	0.965000	0.64279	7.262000	0.78410	2.258000	0.74832	0.533000	0.62120	CTC		PASS	0.398	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		10	31	10	31	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167330361	167330361	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:167330361C>T	ENST00000409855.1	-	4	517	c.391G>A	c.(391-393)Gat>Aat	p.D131N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	131					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D131N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AATACGCAATCAATCAGGACA	0.249																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(391-393)GAT>AAT		sodium channel, voltage-gated, type VII, alpha							51.0	49.0	50.0					2																	167330361		1784	4034	5818	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167330361C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.391G>A	2.37:g.167330361C>T	ENSP00000386796:p.Asp131Asn					SCN7A_uc010fpm.1_RNA	p.D131N	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			4	518	-			131			Helical; Name=S1 of repeat I; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.391G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	5.781	0.328395	0.10956	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.96619	-4.07;-4.07;-4.07	4.61	4.61	0.57282	.	0.106712	0.41001	D	0.000971	D	0.92714	0.7684	N	0.04355	-0.22	0.18873	N	0.999988	D	0.69078	0.997	D	0.77004	0.989	T	0.82780	-0.0288	10	0.02654	T	1	.	10.1882	0.43011	0.0:0.9071:0.0:0.0929	.	131	Q01118	SCN7A_HUMAN	N	131	ENSP00000386796:D131N;ENSP00000413699:D131N;ENSP00000403846:D131N	ENSP00000259060:D131N	D	-	1	0	SCN7A	167038607	1.000000	0.71417	0.343000	0.25615	0.435000	0.31806	4.337000	0.59310	2.560000	0.86352	0.491000	0.48974	GAT		PASS	0.249	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			8	30	8	30	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616205	179616205	+	Intron	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:179616205G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P3641L|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_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)			TTTGTTAAAGGGAGAGCCAGT	0.373																																						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.(10921-10923)CCC>CTC		titin isoform novex-3							148.0	140.0	143.0					2																	179616205		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616205G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1645C>T	2.37:g.179616205G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.P3641L	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11146	-			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.10922C>T		.	.	.	.	.	.	.	.	.	.	G	15.80	2.939793	0.52972	.	.	ENSG00000155657	ENST00000360870	T	0.60171	0.21	5.58	5.58	0.84498	.	.	.	.	.	T	0.66761	0.2822	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60801	-0.7191	9	0.25751	T	0.34	.	19.517	0.95169	0.0:0.0:1.0:0.0	.	3641	Q8WZ42-6	.	L	3641	ENSP00000354117:P3641L	ENSP00000354117:P3641L	P	-	2	0	TTN	179324450	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.736000	0.98828	2.780000	0.95670	0.655000	0.94253	CCC		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	80	19	80	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206480475	206480475	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:206480475G>C	ENST00000406610.2	+	23	3763	c.3556G>C	c.(3556-3558)Gac>Cac	p.D1186H	PARD3B_ENST00000349953.3_Missense_Mutation_p.D1085H|PARD3B_ENST00000358768.2_Missense_Mutation_p.D1124H|PARD3B_ENST00000351153.1_Missense_Mutation_p.D1117H|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1186					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.D1125H(1)|p.D1117H(1)|p.D1124H(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGCAGCCCAGACCAGTACCC	0.617																																						uc002var.1																			3	Substitution - Missense(3)		lung(3)	skin(2)|ovary(1)|breast(1)	4						c.(3556-3558)GAC>CAC		par-3 partitioning defective 3 homolog B isoform							54.0	64.0	61.0					2																	206480475		1926	4114	6040	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480475G>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3556G>C	2.37:g.206480475G>C	ENSP00000385848:p.Asp1186His					PARD3B_uc002vao.1_Missense_Mutation_p.D1085H|PARD3B_uc002vap.1_Missense_Mutation_p.D1124H|PARD3B_uc002vaq.1_Missense_Mutation_p.D1117H|uc010fuc.1_5'Flank	p.D1186H	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3763	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1186					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.3556G>C		.	.	.	.	.	.	.	.	.	.	G	23.0	4.360124	0.82353	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.18502	2.44;2.21;2.38;2.35	5.87	5.87	0.94306	.	0.098116	0.45606	D	0.000345	T	0.39600	0.1084	L	0.53249	1.67	0.39052	D	0.960356	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	P;P;D;D	0.65987	0.873;0.879;0.94;0.919	T	0.10245	-1.0638	10	0.87932	D	0	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	1186;1117;1124;1085	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	H	1186;1124;1117;1085	ENSP00000385848:D1186H;ENSP00000351618:D1124H;ENSP00000317261:D1117H;ENSP00000340280:D1085H	ENSP00000340280:D1085H	D	+	1	0	PARD3B	206188720	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.685000	0.74543	2.778000	0.95560	0.650000	0.86243	GAC		PASS	0.617	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		11	49	11	49	---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	213886856	213886856	+	Splice_Site	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:213886856T>A	ENST00000434687.1	-	7	884		c.e7-2		IKZF2_ENST00000342002.2_Splice_Site|IKZF2_ENST00000421754.2_Splice_Site|IKZF2_ENST00000374319.4_Splice_Site|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000457361.1_Splice_Site|IKZF2_ENST00000374327.4_Splice_Site|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_Splice_Site			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTTTACCCACTGTGAAGAGAA	0.443																																						uc002vem.2																			1	Unknown(1)		lung(1)		0						c.e6-1		helios isoform 1							108.0	97.0	101.0					2																	213886856		2203	4300	6503	SO:0001630	splice_region_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213886856T>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.575-2A>T	2.37:g.213886856T>A						IKZF2_uc010fuu.2_Splice_Site_p.M47_splice|IKZF2_uc002vej.2_Splice_Site_p.V139_splice|IKZF2_uc002vek.2_Splice_Site|IKZF2_uc010fuv.2_Splice_Site_p.V166_splice|IKZF2_uc002vel.2_Splice_Site_p.V113_splice|IKZF2_uc010fuw.2_Splice_Site|IKZF2_uc010fux.2_Splice_Site|IKZF2_uc010fuy.2_Intron|IKZF2_uc002ven.2_Splice_Site_p.V166_splice	p.V192_splice	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	6	744	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)						Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Splice_Site	SNP	ENST00000434687.1	37	c.575_splice	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243571	0.79912	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000421754;ENST00000374327;ENST00000413091	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.143	0.81539	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IKZF2	213595101	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	6.189000	0.72051	2.212000	0.71576	0.528000	0.53228	.		PASS	0.443	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	Intron	11	44	11	44	---	---	---	---
ATIC	471	broad.mit.edu	37	2	216190789	216190789	+	Silent	SNP	G	G	C	rs186545891		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:216190789G>C	ENST00000236959.9	+	6	785	c.459G>C	c.(457-459)gtG>gtC	p.V153V	ATIC_ENST00000435675.1_Silent_p.V152V|ATIC_ENST00000540518.1_Silent_p.V94V	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	153					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.V153V(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	ACTATGTGGTGGTGTCCACGG	0.493			T	ALK	ALCL																																	uc002vex.3				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(457-459)GTG>GTC		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						122.0	111.0	115.0					2																	216190789		2203	4300	6503	SO:0001819	synonymous_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216190789G>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.459G>C	2.37:g.216190789G>C						ATIC_uc010zjo.1_Silent_p.V94V|ATIC_uc002vey.3_Silent_p.V152V	p.V153V	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	6	633	+		Renal(323;0.229)	153					A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	c.459G>C	CCDS2398.1																																																																																				PASS	0.493	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		6	43	6	43	---	---	---	---
FAM124B	79843	broad.mit.edu	37	2	225266389	225266389	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:225266389C>G	ENST00000409685.3	-	1	362	c.97G>C	c.(97-99)Gat>Cat	p.D33H	FAM124B_ENST00000389874.3_Missense_Mutation_p.D33H|FAM124B_ENST00000243806.2_Missense_Mutation_p.D33H	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	33								p.D33H(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CAAATGCAATCCAGGAGCTGG	0.572																																						uc002vnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(97-99)GAT>CAT		hypothetical protein LOC79843 isoform a							36.0	41.0	39.0					2																	225266389		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266389C>G	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.97G>C	2.37:g.225266389C>G	ENSP00000386895:p.Asp33His					FAM124B_uc002vnw.2_Missense_Mutation_p.D33H	p.D33H	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	323	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	33					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.97G>C	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606963	0.28623	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.45668	0.89;0.89;0.89	5.95	3.14	0.36123	.	0.772224	0.13145	N	0.410309	T	0.33294	0.0858	L	0.33485	1.01	0.09310	N	1	B;B	0.17667	0.023;0.004	B;B	0.19391	0.025;0.007	T	0.23940	-1.0174	10	0.45353	T	0.12	-0.9798	10.909	0.47097	0.0:0.5652:0.3695:0.0654	.	33;33	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	H	33	ENSP00000374524:D33H;ENSP00000386895:D33H;ENSP00000243806:D33H	ENSP00000243806:D33H	D	-	1	0	FAM124B	224974633	0.001000	0.12720	0.003000	0.11579	0.895000	0.52256	0.701000	0.25616	0.386000	0.24997	0.655000	0.94253	GAT		PASS	0.572	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		12	41	12	41	---	---	---	---
UGT1A4	54657	broad.mit.edu	37	2	234628211	234628211	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:234628211G>T	ENST00000373409.3	+	1	788	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	249					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V249F(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GGTGGATCTTGTCAGCTATGC	0.527																																					Melanoma(99;1011 1962 13201 26492)	uc002vux.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(745-747)GTC>TTC		UDP glycosyltransferase 1 family, polypeptide A4	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)						238.0	234.0	236.0					2																	234628211		2203	4300	6503	SO:0001583	missense	54657				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234628211G>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.745G>T	2.37:g.234628211G>T	ENSP00000362508:p.Val249Phe					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.V249F	p.V249F	NM_007120	NP_009051	P22310	UD14_HUMAN		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	774	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	249					B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.745G>T	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	G	5.325	0.245281	0.10077	.	.	ENSG00000244474	ENST00000373409	T	0.61274	0.12	4.35	-5.93	0.02254	.	.	.	.	.	T	0.24431	0.0592	N	0.01649	-0.78	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.19946	0.027;0.001	T	0.25641	-1.0126	9	0.33940	T	0.23	.	8.0799	0.30739	0.0:0.169:0.3999:0.4312	.	249;249	B8K288;P22310	.;UD14_HUMAN	F	249	ENSP00000362508:V249F	ENSP00000362508:V249F	V	+	1	0	UGT1A4	234292950	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.192000	0.03052	-1.203000	0.02652	-1.519000	0.00935	GTC		PASS	0.527	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		32	121	32	121	---	---	---	---
OR6B2	389090	broad.mit.edu	37	2	240968955	240968955	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:240968955T>A	ENST00000402971.2	-	1	951	c.892A>T	c.(892-894)Aag>Tag	p.K298*		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K298*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AAGGCGTCCTTAAATTCCTTG	0.418																																						uc002vyr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(892-894)AAG>TAG		olfactory receptor, family 6, subfamily B,							129.0	124.0	125.0					2																	240968955		1877	4110	5987	SO:0001587	stop_gained	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240968955T>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.892A>T	2.37:g.240968955T>A	ENSP00000384563:p.Lys298*					OR6B2_uc010zoc.1_Nonsense_Mutation_p.K298*	p.K298*	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	938	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	298			Cytoplasmic (Potential).		B2RPR3|Q8NGW0	Nonsense_Mutation	SNP	ENST00000402971.2	37	c.892A>T	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994126	0.54041	.	.	ENSG00000182083	ENST00000402971	.	.	.	4.36	4.36	0.52297	.	0.000000	0.48767	D	0.000175	.	.	.	.	.	.	0.42043	D	0.99108	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8219	0.52242	0.0:0.0:0.0:1.0	.	.	.	.	X	298	.	ENSP00000384563:K298X	K	-	1	0	OR6B2	240617628	0.645000	0.27286	0.032000	0.17829	0.333000	0.28666	3.486000	0.53215	1.938000	0.56188	0.482000	0.46254	AAG		PASS	0.418	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		16	97	16	97	---	---	---	---
MTERF4	130916	broad.mit.edu	37	2	242039030	242039030	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:242039030C>G	ENST00000391980.2	-	2	359	c.301G>C	c.(301-303)Gac>Cac	p.D101H	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.D101H|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.D101H	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		101					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.D101H(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		AAACCCATGTCCAGGAGGGAA	0.488																																						uc002wan.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(388-390)GAC>CAC		MTERF domain containing 2							119.0	118.0	119.0					2																	242039030		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242039030C>G																												ENST00000391980.2:c.301G>C	2.37:g.242039030C>G	ENSP00000375840:p.Asp101His					MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.D101H	p.D130H	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	1	881	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	101					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.388G>C	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477553	0.44044	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.60299	0.2;0.22;2.74;2.74;2.74;0.37	5.03	4.13	0.48395	.	0.294027	0.27319	N	0.019915	T	0.60064	0.2240	M	0.72118	2.19	0.40591	D	0.981482	P;P	0.44260	0.655;0.83	B;B	0.43680	0.336;0.427	T	0.65158	-0.6236	10	0.56958	D	0.05	-9.5571	12.5177	0.56042	0.0:0.8315:0.1685:0.0	.	101;101	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	H	101;101;101;94;101;80	ENSP00000419315:D101H;ENSP00000385183:D101H;ENSP00000375840:D101H;ENSP00000409023:D94H;ENSP00000385630:D101H;ENSP00000393063:D80H	ENSP00000241527:D101H	D	-	1	0	MTERFD2	241687703	0.998000	0.40836	0.999000	0.59377	0.599000	0.36880	3.245000	0.51407	1.079000	0.41038	0.591000	0.81541	GAC		PASS	0.488	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			24	99	24	99	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242054777	242054777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr2:242054777C>A	ENST00000405260.1	-	13	3822	c.3124G>T	c.(3124-3126)Gag>Tag	p.E1042*	PASK_ENST00000539818.1_Nonsense_Mutation_p.E826*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E1042*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E856*|PASK_ENST00000403638.3_Nonsense_Mutation_p.E1042*|PASK_ENST00000475666.1_5'Flank|PASK_ENST00000234040.4_Nonsense_Mutation_p.E1042*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1042	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.E1042*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TTGGGATCCTCAATCCAACAA	0.463																																						uc002wao.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(3124-3126)GAG>TAG		PAS domain containing serine/threonine kinase							174.0	159.0	164.0					2																	242054777		2203	4300	6503	SO:0001587	stop_gained	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242054777C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3124G>T	2.37:g.242054777C>A	ENSP00000384016:p.Glu1042*					PASK_uc010zol.1_Nonsense_Mutation_p.E856*|PASK_uc010zom.1_Nonsense_Mutation_p.E1007*|PASK_uc010fzl.1_Nonsense_Mutation_p.E1042*|PASK_uc010zon.1_Nonsense_Mutation_p.E823*|PASK_uc002wap.2_Nonsense_Mutation_p.E585*|PASK_uc002waq.2_Nonsense_Mutation_p.E1042*	p.E1042*	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	13	3216	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1042			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP	ENST00000405260.1	37	c.3124G>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	47	13.296119	0.99733	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	5.24	4.16	0.48862	.	0.116409	0.37715	N	0.001971	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.3144	0.43727	0.0:0.7774:0.1389:0.0837	.	.	.	.	X	1042;856;1042;1042;826;1042	.	ENSP00000234040:E1042X	E	-	1	0	PASK	241703450	0.961000	0.32948	0.934000	0.37439	0.989000	0.77384	2.242000	0.43106	2.446000	0.82766	0.563000	0.77884	GAG		PASS	0.463	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		11	66	11	66	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38835434	38835434	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:38835434T>C	ENST00000449082.2	-	1	67	c.68A>G	c.(67-69)gAg>gGg	p.E23G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	23					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E23G(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTCTCTATCTCCACCAGTGA	0.488																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(67-69)GAG>GGG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167.0	169.0	168.0					3																	38835434		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835434T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.68A>G	3.37:g.38835434T>C	ENSP00000390600:p.Glu23Gly						p.E23G	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	68	-			23					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.68A>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545229	0.45280	.	.	ENSG00000185313	ENST00000449082	D	0.95885	-3.84	5.05	2.6	0.31112	.	0.114504	0.64402	D	0.000019	D	0.91991	0.7463	L	0.59436	1.845	0.30134	N	0.804555	P	0.36222	0.544	B	0.27887	0.084	D	0.89298	0.3624	10	0.62326	D	0.03	.	11.7793	0.52003	0.0:0.0:0.5569:0.4431	.	23	Q9Y5Y9	SCNAA_HUMAN	G	23	ENSP00000390600:E23G	ENSP00000390600:E23G	E	-	2	0	SCN10A	38810438	0.298000	0.24417	1.000000	0.80357	0.948000	0.59901	1.388000	0.34442	0.931000	0.37242	0.460000	0.39030	GAG		PASS	0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		24	83	24	83	---	---	---	---
CSRNP1	64651	broad.mit.edu	37	3	39184890	39184890	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:39184890C>T	ENST00000273153.5	-	5	1603	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S	CSRNP1_ENST00000514182.1_Missense_Mutation_p.G476S	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	476					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G476S(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGAAGGCTGCCTTCCCTTGAC	0.552																																						uc003cjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1426-1428)GGC>AGC		AXIN1 up-regulated 1							54.0	52.0	53.0					3																	39184890		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39184890C>T	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1426G>A	3.37:g.39184890C>T	ENSP00000273153:p.Gly476Ser					CSRNP1_uc003cjh.2_Missense_Mutation_p.G476S	p.G476S	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN			5	1640	-			476					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.1426G>A	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264211	0.23136	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.39997	1.05;1.05	4.52	2.73	0.32206	.	1.200800	0.05830	N	0.617414	T	0.30541	0.0768	L	0.29908	0.895	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.16100	-1.0414	10	0.07482	T	0.82	-9.343	11.0058	0.47633	0.0:0.8609:0.0:0.1391	.	476	Q96S65	CSRN1_HUMAN	S	476;476;134	ENSP00000273153:G476S;ENSP00000422532:G476S	ENSP00000273153:G476S	G	-	1	0	CSRNP1	39159894	0.000000	0.05858	0.044000	0.18714	0.904000	0.53231	1.007000	0.29860	0.650000	0.30769	0.655000	0.94253	GGC		PASS	0.552	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		5	20	5	20	---	---	---	---
ATRIP	84126	broad.mit.edu	37	3	48506925	48506925	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:48506925T>C	ENST00000320211.3	+	13	2461	c.2348T>C	c.(2347-2349)gTg>gCg	p.V783A	TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000296443.9_5'UTR|TREX1_ENST00000436480.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank|ATRIP_ENST00000357105.6_Missense_Mutation_p.V656A|ATRIP_ENST00000412052.1_Missense_Mutation_p.V690A|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|ATRIP_ENST00000346691.4_Missense_Mutation_p.V756A	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	783					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V783A(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAACCGATGTGGAAGACCCC	0.592								Other conserved DNA damage response genes			OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ctf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2347-2349)GTG>GCG	Other_conserved_DNA_damage_response_genes	ATR interacting protein isoform 1							100.0	85.0	90.0					3																	48506925		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506925T>C	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2348T>C	3.37:g.48506925T>C	ENSP00000323099:p.Val783Ala		OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	ATRIP_uc011bbj.1_Missense_Mutation_p.V656A|ATRIP_uc003ctg.1_Missense_Mutation_p.V756A|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	p.V783A	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	2380	+			783					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.2348T>C	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.268820	0.40095	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.43688	1.52;1.51;0.94;1.52	5.25	0.0877	0.14451	.	1.571760	0.03153	N	0.168255	T	0.31918	0.0812	N	0.25647	0.755	0.18873	N	0.999986	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.20338	-1.0278	10	0.31617	T	0.26	0.0027	8.9327	0.35680	0.0:0.4576:0.0:0.5424	.	756;783	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	A	783;756;656;690	ENSP00000323099:V783A;ENSP00000302338:V756A;ENSP00000349620:V656A;ENSP00000400930:V690A	ENSP00000323099:V783A	V	+	2	0	ATRIP	48481929	0.001000	0.12720	0.003000	0.11579	0.785000	0.44390	-0.562000	0.05950	-0.133000	0.11537	0.533000	0.62120	GTG		PASS	0.592	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		5	32	5	32	---	---	---	---
DAG1	1605	broad.mit.edu	37	3	49548205	49548205	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:49548205G>T	ENST00000539901.1	+	2	796	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	DAG1_ENST00000541308.1_Missense_Mutation_p.V80L|DAG1_ENST00000545947.1_Missense_Mutation_p.V80L|DAG1_ENST00000479935.1_3'UTR|DAG1_ENST00000515359.2_Missense_Mutation_p.V80L|DAG1_ENST00000308775.2_Missense_Mutation_p.V80L|DAG1_ENST00000538711.1_Missense_Mutation_p.V80L	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	80	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.V80L(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTCATTTCGAGTGACCATTCC	0.488																																						uc003cxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(238-240)GTG>TTG		dystroglycan 1 preproprotein							47.0	41.0	43.0					3																	49548205		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49548205G>T	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.238G>T	3.37:g.49548205G>T	ENSP00000439334:p.Val80Leu						p.V80L	NM_004393	NP_004384	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	656	+			80			Required for laminin recognition.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.238G>T	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863647	0.32884	.	.	ENSG00000173402	ENST00000515359;ENST00000421560;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000418588;ENST00000431960;ENST00000452060;ENST00000428779	D;D;D;D;D;D;D;T;D;T;T	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;0.73;-4.91;0.72;0.75	5.44	3.59	0.41128	Dystroglycan-type cadherin-like (1);Cadherin-like (1);Immunoglobulin-like fold (1);	0.194425	0.42548	D	0.000694	D	0.92371	0.7579	N	0.12182	0.205	0.32684	N	0.515106	B	0.09022	0.002	B	0.01281	0.0	D	0.88191	0.2877	10	0.11182	T	0.66	-16.6634	6.878	0.24156	0.1566:0.1444:0.699:0.0	.	80	Q14118	DAG1_HUMAN	L	80	ENSP00000440705:V80L;ENSP00000412067:V80L;ENSP00000312435:V80L;ENSP00000442600:V80L;ENSP00000440590:V80L;ENSP00000439334:V80L;ENSP00000438421:V80L;ENSP00000405859:V80L;ENSP00000388833:V80L;ENSP00000410145:V80L;ENSP00000401382:V80L	ENSP00000312435:V80L	V	+	1	0	DAG1	49523209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.126000	0.42026	1.286000	0.44565	0.557000	0.71058	GTG		PASS	0.488	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			7	17	7	17	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120977942	120977942	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:120977942A>G	ENST00000273666.6	+	18	2156	c.1885A>G	c.(1885-1887)Att>Gtt	p.I629V	STXBP5L_ENST00000492541.1_Missense_Mutation_p.I629V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I629V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I629V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I629V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	629					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I629V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAACTTGTTATTCAATTGGT	0.363																																						uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(1885-1887)ATT>GTT		syntaxin binding protein 5-like							117.0	116.0	117.0					3																	120977942		1897	4114	6011	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120977942A>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1885A>G	3.37:g.120977942A>G	ENSP00000273666:p.Ile629Val					STXBP5L_uc011bji.1_Missense_Mutation_p.I629V	p.I629V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	18	2025	+			629			WD 9.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1885A>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.433009	0.25813	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.62639	1.99;0.01;0.01;1.29;0.01;2.04	5.22	2.56	0.30785	WD40 repeat-like-containing domain (1);	0.170182	0.52532	N	0.000077	T	0.36663	0.0975	N	0.13043	0.29	0.46874	D	0.999236	B;B	0.09022	0.002;0.0	B;B	0.06405	0.001;0.002	T	0.15378	-1.0439	10	0.06625	T	0.88	-9.7953	9.2129	0.37328	0.8046:0.0:0.1954:0.0	.	629;629	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	629	ENSP00000273666:I629V;ENSP00000420019:I629V;ENSP00000419627:I629V;ENSP00000420287:I629V;ENSP00000420666:I629V;ENSP00000420167:I629V	ENSP00000273666:I629V	I	+	1	0	STXBP5L	122460632	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.343000	0.52167	0.932000	0.37266	-0.263000	0.10527	ATT		PASS	0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			18	54	18	54	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130442333	130442333	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:130442333G>C	ENST00000356763.3	-	7	2463	c.1906C>G	c.(1906-1908)Ctt>Gtt	p.L636V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	636					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L636V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGGCATAAAGAGCTTTCACA	0.423																																						uc003enj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1906-1908)CTT>GTT		phosphoinositide-3-kinase, regulatory subunit 4							116.0	109.0	111.0					3																	130442333		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130442333G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1906C>G	3.37:g.130442333G>C	ENSP00000349205:p.Leu636Val						p.L636V	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			7	2487	-			636					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1906C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126716	0.77549	.	.	ENSG00000196455	ENST00000356763	T	0.55234	0.53	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.58969	1.84	0.80722	D	1	P	0.51057	0.941	B	0.39027	0.288	T	0.59742	-0.7397	10	0.56958	D	0.05	-21.8367	19.2741	0.94023	0.0:0.0:1.0:0.0	.	636	Q99570	PI3R4_HUMAN	V	636	ENSP00000349205:L636V	ENSP00000349205:L636V	L	-	1	0	PIK3R4	131925023	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.310000	0.96267	2.555000	0.86185	0.591000	0.81541	CTT		PASS	0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		13	61	13	61	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133692622	133692622	+	Silent	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:133692622C>A	ENST00000310926.4	-	3	555	c.282G>T	c.(280-282)cgG>cgT	p.R94R	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Silent_p.R94R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	94					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.R94R(1)|p.R94L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GACGGTGCACCCGGCTGCCAA	0.572																																						uc003eqa.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	central_nervous_system(1)	1						c.(280-282)CGG>CGT		solute carrier organic anion transporter family,							88.0	77.0	80.0					3																	133692622		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133692622C>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.282G>T	3.37:g.133692622C>A						SLCO2A1_uc003eqb.3_Silent_p.R94R|SLCO2A1_uc011blv.1_Silent_p.R94R|SLCO2A1_uc010htw.1_5'UTR	p.R94R	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			3	556	-			94			Cytoplasmic (Potential).		Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.282G>T	CCDS3084.1																																																																																				PASS	0.572	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		6	24	6	24	---	---	---	---
SI	6476	broad.mit.edu	37	3	164712183	164712183	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:164712183G>T	ENST00000264382.3	-	41	4765	c.4703C>A	c.(4702-4704)cCc>cAc	p.P1568H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1568	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P1568H(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCAGGAAGCGGGATCTTGTCT	0.299										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4702-4704)CCC>CAC		sucrase-isomaltase	Acarbose(DB00284)						90.0	97.0	94.0					3																	164712183		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712183G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4703C>A	3.37:g.164712183G>T	ENSP00000264382:p.Pro1568His	HNSCC(35;0.089)					p.P1568H	NM_001041	NP_001032	P14410	SUIS_HUMAN			41	4765	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1568			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4703C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473190	0.84640	.	.	ENSG00000090402	ENST00000264382	D	0.93659	-3.26	5.2	5.2	0.72013	Glycoside hydrolase, superfamily (1);	0.116998	0.64402	D	0.000014	D	0.98182	0.9399	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99035	1.0822	10	0.87932	D	0	.	18.9473	0.92626	0.0:0.0:1.0:0.0	.	1568	P14410	SUIS_HUMAN	H	1568	ENSP00000264382:P1568H	ENSP00000264382:P1568H	P	-	2	0	SI	166194877	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	9.314000	0.96306	2.876000	0.98609	0.644000	0.83932	CCC		PASS	0.299	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		15	71	15	71	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170857278	170857278	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:170857278T>C	ENST00000436636.2	-	14	1744	c.1400A>G	c.(1399-1401)cAt>cGt	p.H467R	TNIK_ENST00000470834.1_Intron|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000284483.8_Missense_Mutation_p.H467R|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000538048.1_Missense_Mutation_p.H467R|TNIK_ENST00000488470.1_Missense_Mutation_p.H467R|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000460047.1_Missense_Mutation_p.H467R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	467	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.H467R(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGCTTGTTCATGCAGTAGCTG	0.483																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(1399-1401)CAT>CGT		TRAF2 and NCK interacting kinase isoform 1							191.0	189.0	190.0					3																	170857278		2040	4190	6230	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170857278T>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1400A>G	3.37:g.170857278T>C	ENSP00000399511:p.His467Arg					TNIK_uc003fhi.2_Missense_Mutation_p.H467R|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Missense_Mutation_p.H467R|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Missense_Mutation_p.H467R|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	p.H467R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1745	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		467			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1400A>G	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611075	0.28712	.	.	ENSG00000154310	ENST00000436636;ENST00000538048;ENST00000284483;ENST00000460047;ENST00000488470	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.72	5.72	0.89469	.	0.060448	0.64402	D	0.000002	T	0.22205	0.0535	N	0.08118	0	0.41220	D	0.986506	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.13469	-1.0508	10	0.02654	T	1	.	16.0023	0.80306	0.0:0.0:0.0:1.0	.	467;467;467;467	Q9UKE5-7;Q9UKE5-4;Q9UKE5-3;Q9UKE5	.;.;.;TNIK_HUMAN	R	467	ENSP00000399511:H467R;ENSP00000443278:H467R;ENSP00000284483:H467R;ENSP00000418916:H467R;ENSP00000418378:H467R	ENSP00000284483:H467R	H	-	2	0	TNIK	172339972	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.172000	0.71932	2.177000	0.69029	0.533000	0.62120	CAT		PASS	0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		28	120	28	120	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183685506	183685506	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:183685506G>C	ENST00000334444.6	-	12	2050	c.1810C>G	c.(1810-1812)Ctc>Gtc	p.L604V	ABCC5_ENST00000265586.6_Missense_Mutation_p.L604V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	604	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L604V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCTGAAATGAGAGAGGTTTTT	0.433																																						uc003fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1810-1812)CTC>GTC		ATP-binding cassette, sub-family C, member 5							220.0	217.0	218.0					3																	183685506		1894	4121	6015	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183685506G>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1810C>G	3.37:g.183685506G>C	ENSP00000333926:p.Leu604Val					ABCC5_uc011bqt.1_Missense_Mutation_p.L132V|ABCC5_uc010hxl.2_Missense_Mutation_p.L604V	p.L604V	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		12	1975	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		604			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1810C>G	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153434	0.78114	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.96774	-4.12;-4.12	5.91	5.91	0.95273	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.061932	0.64402	D	0.000003	D	0.97579	0.9207	M	0.80982	2.52	0.53688	D	0.999972	P;D	0.60160	0.843;0.987	P;P	0.59357	0.749;0.856	D	0.97641	1.0148	10	0.66056	D	0.02	-19.3196	14.4427	0.67327	0.07:0.0:0.93:0.0	.	604;604	Q86UX3;O15440	.;MRP5_HUMAN	V	604;540;604	ENSP00000333926:L604V;ENSP00000265586:L604V	ENSP00000265586:L604V	L	-	1	0	ABCC5	185168200	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.326000	0.65875	2.794000	0.96219	0.655000	0.94253	CTC		PASS	0.433	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		29	290	29	290	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195505742	195505742	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:195505742G>C	ENST00000463781.3	-	2	13168	c.12709C>G	c.(12709-12711)Cac>Gac	p.H4237D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4237D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	994					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4237D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.587																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(12325-12327)CAC>GAC		mucin 4 isoform a							49.0	50.0	49.0					3																	195505742		2110	4203	6313	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505742G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12709C>G	3.37:g.195505742G>C	ENSP00000417498:p.His4237Asp					MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_5'UTR|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_5'UTR|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.H849D	p.H4109D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12785	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	994			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12325C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	2.170	-0.390211	0.04932	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.30448	1.55;1.53	2.31	-0.661	0.11417	.	.	.	.	.	T	0.21841	0.0526	L	0.38175	1.15	0.09310	N	1	P;P	0.47604	0.797;0.898	B;B	0.43623	0.343;0.425	T	0.13019	-1.0525	8	.	.	.	.	4.9563	0.14041	0.5176:0.0:0.4824:0.0	.	4109;994	E7ESK3;Q99102	.;MUC4_HUMAN	D	4237;4237;963	ENSP00000417498:H4237D;ENSP00000420243:H4237D	.	H	-	1	0	MUC4	196990521	0.025000	0.19082	0.033000	0.17914	0.009000	0.06853	1.101000	0.31037	-0.196000	0.10366	-0.213000	0.12676	CAC		PASS	0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		5	31	5	31	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8602977	8602977	+	Missense_Mutation	SNP	C	C	A	rs574827036	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:8602977C>A	ENST00000360986.4	+	3	423	c.249C>A	c.(247-249)agC>agA	p.S83R	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.S72R	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	83	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S83R(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCTGCTGAGCGTTCTACACC	0.662																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(247-249)AGC>AGA		carboxypeptidase Z isoform 1							67.0	58.0	61.0					4																	8602977		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8602977C>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.249C>A	4.37:g.8602977C>A	ENSP00000354255:p.Ser83Arg					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.S72R|CPZ_uc003glp.2_RNA	p.S83R	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			3	375	+			83			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.249C>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458673	0.63401	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.76448	-1.02;-1.02	3.59	-4.08	0.03963	Frizzled domain (5);	0.049890	0.85682	D	0.000000	T	0.81173	0.4767	L	0.56280	1.765	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72075	0.967;0.976	T	0.80169	-0.1494	10	0.87932	D	0	-14.0392	12.072	0.53622	0.0:0.5804:0.0:0.4196	.	72;83	Q66K79-2;Q66K79	.;CBPZ_HUMAN	R	83;72	ENSP00000354255:S83R;ENSP00000315074:S72R	ENSP00000315074:S72R	S	+	3	2	CPZ	8653877	0.005000	0.15991	0.918000	0.36340	0.980000	0.70556	-1.434000	0.02425	-0.590000	0.05866	-0.340000	0.08031	AGC		PASS	0.662	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		4	48	4	48	---	---	---	---
SLC2A9	56606	broad.mit.edu	37	4	9998458	9998458	+	Silent	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:9998458G>A	ENST00000264784.3	-	3	410	c.357C>T	c.(355-357)atC>atT	p.I119I	SLC2A9_ENST00000309065.3_Silent_p.I90I|SLC2A9_ENST00000506583.1_Silent_p.I90I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	119					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.I119I(1)|p.I90I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAAGTCCACCGATGGCGAATA	0.493																																						uc003gmc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(355-357)ATC>ATT		solute carrier family 2, member 9 protein							125.0	107.0	113.0					4																	9998458		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9998458G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.357C>T	4.37:g.9998458G>A						SLC2A9_uc003gmd.2_Silent_p.I90I	p.I119I	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			3	418	-			119			Helical; Name=2; (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.357C>T	CCDS3407.1																																																																																				PASS	0.493	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			10	47	10	47	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20533637	20533637	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:20533637G>T	ENST00000504154.1	+	17	1896	c.1644G>T	c.(1642-1644)ttG>ttT	p.L548F	SLIT2_ENST00000273739.5_Missense_Mutation_p.L552F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L544F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L540F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	548					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.L548F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTACCGTGTTGGAAGCCACAG	0.303																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1642-1644)TTG>TTT		slit homolog 2 precursor							49.0	49.0	49.0					4																	20533637		2203	4295	6498	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20533637G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1644G>T	4.37:g.20533637G>T	ENSP00000422591:p.Leu548Phe					SLIT2_uc003gps.1_Missense_Mutation_p.L540F	p.L548F	NM_004787	NP_004778	O94813	SLIT2_HUMAN			17	1848	+			548			LRR 12.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1644G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261988	0.59431	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.7	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.74674	0.984;0.923	T	0.78362	-0.2233	10	0.72032	D	0.01	.	9.3789	0.38301	0.2425:0.0:0.7575:0.0	.	540;548	O94813-3;O94813	.;SLIT2_HUMAN	F	540;548;552;544;544	ENSP00000427548:L540F;ENSP00000422591:L548F;ENSP00000273739:L552F;ENSP00000422261:L544F	ENSP00000273739:L552F	L	+	3	2	SLIT2	20142735	1.000000	0.71417	0.979000	0.43373	0.662000	0.39071	1.640000	0.37186	0.680000	0.31366	-0.355000	0.07637	TTG		PASS	0.303	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			5	26	5	26	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22444340	22444340	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:22444340C>T	ENST00000334304.5	-	7	1122	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	GPR125_ENST00000502482.1_Missense_Mutation_p.E285K|GPR125_ENST00000508133.1_Missense_Mutation_p.E59K|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	285	Ig-like.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.E285K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCATCGGTTTCAACTATTCTC	0.373																																						uc003gqm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(853-855)GAA>AAA		G protein-coupled receptor 125 precursor							76.0	74.0	75.0					4																	22444340		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22444340C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.853G>A	4.37:g.22444340C>T	ENSP00000334952:p.Glu285Lys					GPR125_uc010ieo.1_Missense_Mutation_p.E159K|GPR125_uc003gqn.1_Missense_Mutation_p.E59K|GPR125_uc003gqo.2_Missense_Mutation_p.E285K	p.E285K	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			7	1118	-		Breast(46;0.198)	285			Extracellular (Potential).|Ig-like.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.853G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627729	0.66901	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482;ENST00000514129	T;T;T;T	0.65916	-0.18;-0.18;-0.18;1.05	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.093702	0.64402	D	0.000001	T	0.55242	0.1908	L	0.31752	0.955	0.58432	D	0.999992	B;B;B;B	0.27656	0.165;0.184;0.041;0.028	B;B;B;B	0.29353	0.075;0.101;0.026;0.031	T	0.49273	-0.8957	10	0.35671	T	0.21	-3.3554	20.0027	0.97425	0.0:1.0:0.0:0.0	.	160;285;59;285	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	K	285;59;285;21	ENSP00000334952:E285K;ENSP00000422606:E59K;ENSP00000421006:E285K;ENSP00000425223:E21K	ENSP00000334952:E285K	E	-	1	0	GPR125	22053438	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.654000	0.67974	2.733000	0.93635	0.655000	0.94253	GAA		PASS	0.373	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			8	41	8	41	---	---	---	---
APBB2	323	broad.mit.edu	37	4	41016138	41016138	+	Silent	SNP	C	C	A	rs533976044		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:41016138C>A	ENST00000295974.8	-	6	926	c.297G>T	c.(295-297)ctG>ctT	p.L99L	APBB2_ENST00000508593.1_Silent_p.L99L|APBB2_ENST00000513140.1_Silent_p.L99L|APBB2_ENST00000506352.1_Silent_p.L99L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	99					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.L99L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CATTTTTCACCAGCTTGATGT	0.542																																					Ovarian(3;20 75 16686 49997)	uc003gvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(295-297)CTG>CTT		amyloid beta A4 precursor protein-binding,							109.0	102.0	105.0					4																	41016138		1952	4154	6106	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41016138C>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.297G>T	4.37:g.41016138C>A						APBB2_uc003gvm.2_Silent_p.L99L|APBB2_uc003gvn.2_Silent_p.L99L|APBB2_uc011byt.1_Silent_p.L82L	p.L99L	NM_173075	NP_775098	Q92870	APBB2_HUMAN			6	927	-			99					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.297G>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	9.077	0.998357	0.19121	.	.	ENSG00000163697	ENST00000513611	.	.	.	5.06	3.26	0.37387	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39057	-0.9632	4	.	.	.	-14.1715	3.1259	0.06407	0.1435:0.5644:0.139:0.153	.	.	.	.	C	89	.	.	G	-	1	0	APBB2	40710895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.178000	0.42519	1.123000	0.41961	0.561000	0.74099	GGT		PASS	0.542	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		9	44	9	44	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42145770	42145770	+	Silent	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:42145770A>G	ENST00000502486.1	-	3	1308	c.729T>C	c.(727-729)tcT>tcC	p.S243S	BEND4_ENST00000504360.1_Silent_p.S239S	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	243								p.S239S(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCAAAAAGGCAGAAGTTTGTT	0.463																																						uc003gwn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)TCT>TCC		BEN domain containing 4 isoform a							123.0	126.0	125.0					4																	42145770		1917	4123	6040	SO:0001819	synonymous_variant	389206							g.chr4:42145770A>G	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.729T>C	4.37:g.42145770A>G						BEND4_uc003gwm.2_Silent_p.S243S|BEND4_uc011byy.1_Silent_p.S243S	p.S243S	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1309	-			243					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	c.729T>C	CCDS47048.1																																																																																				PASS	0.463	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		10	64	10	64	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46067427	46067427	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:46067427G>T	ENST00000295452.4	-	4	663	c.496C>A	c.(496-498)Cgt>Agt	p.R166S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	166					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R166S(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGAAGCAGACGATTAGGAGTT	0.338																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(496-498)CGT>AGT		gamma-aminobutyric acid A receptor, gamma 1							94.0	92.0	93.0					4																	46067427		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067427G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.496C>A	4.37:g.46067427G>T	ENSP00000295452:p.Arg166Ser						p.R166S	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	648	-			166			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.496C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031318	0.75504	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.77750	-1.12	5.08	4.22	0.49857	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	L	0.38838	1.175	0.49915	D	0.999838	P	0.39480	0.675	P	0.49853	0.624	T	0.78876	-0.2031	10	0.87932	D	0	.	12.0944	0.53747	0.0:0.0:0.6881:0.3119	.	166	Q8N1C3	GBRG1_HUMAN	S	166	ENSP00000295452:R166S	ENSP00000295452:R166S	R	-	1	0	GABRG1	45762184	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	5.539000	0.67199	1.217000	0.43442	0.508000	0.49915	CGT		PASS	0.338	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		12	60	12	60	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46067487	46067487	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:46067487G>T	ENST00000295452.4	-	4	603	c.436C>A	c.(436-438)Cct>Act	p.P146T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	146					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P146T(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAGTGTCAGGAATCCAAATT	0.358																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(436-438)CCT>ACT		gamma-aminobutyric acid A receptor, gamma 1							85.0	85.0	85.0					4																	46067487		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067487G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.436C>A	4.37:g.46067487G>T	ENSP00000295452:p.Pro146Thr						p.P146T	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	588	-			146			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.436C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596088	0.86953	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.98550	-4.99	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98440	1.0586	10	0.87932	D	0	.	17.8218	0.88652	0.0:0.0:1.0:0.0	.	146	Q8N1C3	GBRG1_HUMAN	T	146	ENSP00000295452:P146T	ENSP00000295452:P146T	P	-	1	0	GABRG1	45762244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.792000	0.99085	2.513000	0.84729	0.508000	0.49915	CCT		PASS	0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		4	52	4	52	---	---	---	---
UGT2B10	7365	broad.mit.edu	37	4	69682026	69682026	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:69682026T>C	ENST00000265403.7	+	1	316	c.289T>C	c.(289-291)Tca>Cca	p.S97P	UGT2B10_ENST00000458688.2_Missense_Mutation_p.S97P	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	97					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S97P(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TAAGAGATTGTCAGAAATTCA	0.313																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(289-291)TCA>CCA		UDP glucuronosyltransferase 2B10 isoform 1							70.0	77.0	75.0					4																	69682026		2176	4286	6462	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682026T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.289T>C	4.37:g.69682026T>C	ENSP00000265403:p.Ser97Pro					UGT2B10_uc011cam.1_Missense_Mutation_p.S97P	p.S97P	NM_001075	NP_001066	P36537	UDB10_HUMAN			1	314	+			97					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.289T>C		.	.	.	.	.	.	.	.	.	.	t	4.025	0.002095	0.07819	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.59906	0.23;3.45	2.42	-4.41	0.03590	.	0.489229	0.17654	U	0.166569	T	0.34861	0.0912	L	0.35854	1.095	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.14578	0.0;0.011	T	0.16129	-1.0413	10	0.54805	T	0.06	.	0.9818	0.01437	0.5043:0.185:0.1248:0.1858	.	97;97	B4DPP1;P36537	.;UDB10_HUMAN	P	97	ENSP00000265403:S97P;ENSP00000413420:S97P	ENSP00000265403:S97P	S	+	1	0	UGT2B10	69716615	0.001000	0.12720	0.010000	0.14722	0.000000	0.00434	0.205000	0.17356	-0.313000	0.08728	-3.915000	0.00016	TCA		PASS	0.313	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		14	58	14	58	---	---	---	---
GRSF1	2926	broad.mit.edu	37	4	71702001	71702001	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:71702001G>C	ENST00000254799.6	-	2	505	c.388C>G	c.(388-390)Cca>Gca	p.P130A	GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.P12A	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	130	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P130A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GGGGGTGGTGGAAGGTCTTCC	0.413																																						uc010iia.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CCA>GCA		G-rich RNA sequence binding factor 1 isoform 1							82.0	84.0	83.0					4																	71702001		1846	4089	5935	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71702001G>C	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.388C>G	4.37:g.71702001G>C	ENSP00000254799:p.Pro130Ala					GRSF1_uc011caz.1_Missense_Mutation_p.P12A|GRSF1_uc003hfs.2_5'UTR	p.P130A	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		2	471	-		all_hematologic(202;0.21)	130			RRM 1.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.388C>G	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.84|13.84	2.355895|2.355895	0.41700|0.41700	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000514161|ENST00000254799;ENST00000540657;ENST00000499044;ENST00000545193	.|T;T;T	.|0.22539	.|2.1;1.95;2.07	4.51|4.51	4.51|4.51	0.55191|0.55191	.|RNA recognition motif domain (1);	.|0.245861	.|0.29178	.|N	.|0.012903	T|T	0.42314|0.42314	0.1197|0.1197	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.78314	.|0.986;0.991	T|T	0.36359|0.36359	-0.9751|-0.9751	5|10	.|0.87932	.|D	.|0	-3.8496|-3.8496	16.1562|16.1562	0.81670|0.81670	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|43;130	.|B7Z5F9;Q12849	.|.;GRSF1_HUMAN	L|A	66|130;62;103;12	.|ENSP00000254799:P130A;ENSP00000427354:P103A;ENSP00000443380:P12A	.|ENSP00000254799:P130A	F|P	-|-	3|1	2|0	GRSF1|GRSF1	71920865|71920865	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.551000|0.551000	0.35334|0.35334	3.314000|3.314000	0.51943|0.51943	2.320000|2.320000	0.78422|0.78422	0.655000|0.655000	0.94253|0.94253	TTC|CCA		PASS	0.413	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		6	54	6	54	---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82065400	82065400	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:82065400T>G	ENST00000395578.1	-	10	1355	c.1239A>C	c.(1237-1239)gaA>gaC	p.E413D	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.E413D|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.E413D			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	413					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.E413D(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CATGTCTTTTTTCATCATCAC	0.423																																						uc003hmh.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(1237-1239)GAA>GAC		protein kinase, cGMP-dependent, type II							165.0	152.0	156.0					4																	82065400		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82065400T>G	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1239A>C	4.37:g.82065400T>G	ENSP00000378945:p.Glu413Asp					PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.E413D	p.E413D	NM_006259	NP_006250	Q13237	KGP2_HUMAN			9	1253	-			413			cGMP 2.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1239A>C	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497093	0.44352	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.70631	-0.37;-0.37;-0.5	5.31	2.9	0.33743	RmlC-like jelly roll fold (1);	0.204950	0.50627	D	0.000110	T	0.55242	0.1908	L	0.29908	0.895	0.80722	D	1	B;B	0.16802	0.008;0.019	B;B	0.16289	0.015;0.015	T	0.50923	-0.8770	10	0.40728	T	0.16	-30.7355	9.1018	0.36673	0.0:0.1518:0.0:0.8482	.	413;413	E7EPE6;Q13237	.;KGP2_HUMAN	D	413	ENSP00000378945:E413D;ENSP00000264399:E413D;ENSP00000389038:E413D	ENSP00000264399:E413D	E	-	3	2	PRKG2	82284424	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.329000	0.33770	0.966000	0.38159	0.533000	0.62120	GAA		PASS	0.423	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		9	46	9	46	---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85414579	85414579	+	Missense_Mutation	SNP	C	C	A	rs200037772		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:85414579C>A	ENST00000295886.4	-	3	1188	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	NKX6-1_ENST00000515820.2_Missense_Mutation_p.D49Y	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	323	Involved in DNA-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D323Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TAGTCGTCGTCCTCTTCCTCG	0.607																																						uc003hpa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)GAC>TAC		NK6 transcription factor related, locus 1							149.0	141.0	144.0					4																	85414579		2203	4300	6503	SO:0001583	missense	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414579C>A	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.967G>T	4.37:g.85414579C>A	ENSP00000295886:p.Asp323Tyr						p.D323Y	NM_006168	NP_006159	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	973	-		Hepatocellular(203;0.114)	323			Involved in DNA-binding (By similarity).			Missense_Mutation	SNP	ENST00000295886.4	37	c.967G>T	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638019	0.67130	.	.	ENSG00000163623	ENST00000295886;ENST00000515820	T	0.57595	0.39	4.51	4.51	0.55191	.	0.112312	0.64402	D	0.000020	T	0.73210	0.3558	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.78155	-0.2314	10	0.87932	D	0	-16.8979	17.0294	0.86457	0.0:1.0:0.0:0.0	.	323	P78426	NKX61_HUMAN	Y	323;49	ENSP00000295886:D323Y	ENSP00000295886:D323Y	D	-	1	0	NKX6-1	85633603	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.466000	0.80914	2.334000	0.79466	0.467000	0.42956	GAC		PASS	0.607	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		14	91	14	91	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94693265	94693265	+	Silent	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:94693265T>A	ENST00000282020.4	+	16	2898	c.2640T>A	c.(2638-2640)cgT>cgA	p.R880R	GRID2_ENST00000510992.1_Silent_p.R785R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	880					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.R880R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCCATAGACGTGTAAATAGCT	0.423																																						uc011cdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2638-2640)CGT>CGA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						156.0	145.0	148.0					4																	94693265		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693265T>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2640T>A	4.37:g.94693265T>A						GRID2_uc011cdu.1_Silent_p.R785R	p.R880R	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	2898	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	880			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2640T>A	CCDS3637.1																																																																																				PASS	0.423	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			19	81	19	81	---	---	---	---
USP38	84640	broad.mit.edu	37	4	144109067	144109067	+	Silent	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:144109067T>C	ENST00000307017.4	+	2	1277	c.771T>C	c.(769-771)acT>acC	p.T257T	USP38_ENST00000510377.1_Silent_p.T257T	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	257					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.T257T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGAGCCTTACTACGGATCCAA	0.403																																						uc003ijb.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(769-771)ACT>ACC		ubiquitin specific peptidase 38							107.0	102.0	104.0					4																	144109067		2203	4300	6503	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144109067T>C	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.771T>C	4.37:g.144109067T>C						USP38_uc003ija.3_Silent_p.T257T|USP38_uc003ijc.2_RNA	p.T257T	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			2	1305	+	all_hematologic(180;0.158)		257					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.771T>C	CCDS3758.1																																																																																				PASS	0.403	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		6	34	6	34	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146770699	146770699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:146770699C>A	ENST00000508784.1	-	6	2223	c.1996G>T	c.(1996-1998)Gaa>Taa	p.E666*	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Nonsense_Mutation_p.E316*|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.E666*			Q17R98	ZN827_HUMAN	zinc finger protein 827	666					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.E666*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATCTGTGTTTCCTTGTAGCTT	0.443																																						uc003ikn.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1996-1998)GAA>TAA		zinc finger protein 827							130.0	124.0	126.0					4																	146770699		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146770699C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1996G>T	4.37:g.146770699C>A	ENSP00000421863:p.Glu666*					ZNF827_uc003ikm.2_Nonsense_Mutation_p.E666*|ZNF827_uc010iox.2_Nonsense_Mutation_p.E316*	p.E666*	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			6	2044	-	all_hematologic(180;0.151)		666					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.1996G>T		.	.	.	.	.	.	.	.	.	.	C	41	8.873452	0.98986	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	.	.	.	5.95	5.95	0.96441	.	0.281488	0.44902	D	0.000409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-8.0582	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	666;316;666;665;316	.	ENSP00000281318:E665X	E	-	1	0	ZNF827	146990149	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.118000	0.77137	2.824000	0.97209	0.655000	0.94253	GAA		PASS	0.443	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		25	93	25	93	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154548808	154548808	+	Silent	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:154548808T>A	ENST00000409663.3	+	31	4225	c.4173T>A	c.(4171-4173)ccT>ccA	p.P1391P	KIAA0922_ENST00000440693.1_Silent_p.P1308P|KIAA0922_ENST00000409959.3_Silent_p.P1392P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1391						integral component of membrane (GO:0016021)		p.P1392P(1)|p.P1244P(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCAGCCTTCCTGCCGGGCCCA	0.532																																						uc003inm.3																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4171-4173)CCT>CCA		hypothetical protein LOC23240 isoform 2							98.0	84.0	89.0					4																	154548808		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154548808T>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4173T>A	4.37:g.154548808T>A						KIAA0922_uc010ipp.2_Silent_p.P1392P|KIAA0922_uc010ipq.2_Silent_p.P1160P	p.P1391P	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			31	4225	+	all_hematologic(180;0.093)	Renal(120;0.118)	1391			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.4173T>A	CCDS3783.2																																																																																				PASS	0.532	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		5	27	5	27	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187178488	187178488	+	Missense_Mutation	SNP	G	G	A	rs150832692		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr4:187178488G>A	ENST00000264690.6	+	14	1881	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	565	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.G565D(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTCTGTGCTGGCTATAAAGAA	0.318																																						uc003iyy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1693-1695)GGC>GAC		plasma kallikrein B1 precursor		G	ASP/GLY	0,4402		0,0,2201	100.0	118.0	112.0		1694	5.1	1.0	4	dbSNP_134	112	1,8593	1.2+/-3.3	0,1,4296	no	missense	KLKB1	NM_000892.3	94	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	565/639	187178488	1,12995	2201	4297	6498	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187178488G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1694G>A	4.37:g.187178488G>A	ENSP00000264690:p.Gly565Asp					KLKB1_uc011clc.1_Missense_Mutation_p.G363D|KLKB1_uc011cld.1_Intron	p.G565D	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	14	1765	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	565			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1694G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.459171|4.459171	0.84317|0.84317	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690	.|D	.|0.90133	.|-2.62	5.97|5.97	5.13|5.13	0.70059|0.70059	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.071840	.|0.64402	.|D	.|0.000020	D|D	0.95001|0.95001	0.8382|0.8382	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58268	.|0.982;0.963	.|P;P	.|0.58172	.|0.834;0.81	D|D	0.95225|0.95225	0.8337|0.8337	5|10	.|0.62326	.|D	.|0.03	.|.	15.4877|15.4877	0.75578|0.75578	0.0669:0.0:0.9331:0.0|0.0669:0.0:0.9331:0.0	.|.	.|565;565	.|A8K9A9;P03952	.|.;KLKB1_HUMAN	T|D	613|565	.|ENSP00000264690:G565D	.|ENSP00000264690:G565D	A|G	+|+	1|2	0|0	KLKB1|KLKB1	187415482|187415482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	6.960000|6.960000	0.76036|0.76036	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCT|GGC		PASS	0.318	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		11	79	11	79	---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16451871	16451871	+	Silent	SNP	T	T	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr5:16451871T>G	ENST00000308683.2	-	6	1455	c.1329A>C	c.(1327-1329)cgA>cgC	p.R443R		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	443					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R443R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTGCATGTCTCGCTCTCGCA	0.433																																						uc003jfq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1327-1329)CGA>CGC		zinc finger protein 622							169.0	150.0	157.0					5																	16451871		2203	4300	6503	SO:0001819	synonymous_variant	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16451871T>G	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1329A>C	5.37:g.16451871T>G							p.R443R	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			6	1449	-			443						Silent	SNP	ENST00000308683.2	37	c.1329A>C	CCDS3886.1																																																																																				PASS	0.433	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		38	78	38	78	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33982512	33982512	+	Missense_Mutation	SNP	T	T	C	rs200623810		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr5:33982512T>C	ENST00000296589.4	-	2	537	c.391A>G	c.(391-393)Att>Gtt	p.I131V	SLC45A2_ENST00000345083.5_Missense_Mutation_p.I131V|SLC45A2_ENST00000509381.1_Missense_Mutation_p.I131V|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000382102.3_Missense_Mutation_p.I131V	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	131					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.I131V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGGTTAGCAATCAAAGCTAAA	0.398																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(391-393)ATT>GTT		membrane-associated transporter protein isoform							68.0	66.0	67.0					5																	33982512		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33982512T>C	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.391A>G	5.37:g.33982512T>C	ENSP00000296589:p.Ile131Val					SLC45A2_uc003jie.2_Missense_Mutation_p.I131V|SLC45A2_uc003jif.3_Missense_Mutation_p.I131V|SLC45A2_uc011coe.1_Missense_Mutation_p.I131V	p.I131V	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			2	483	-			131			Helical; Name=3; (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.391A>G	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	T	2.719	-0.267106	0.05754	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.33	-0.166	0.13351	Major facilitator superfamily domain, general substrate transporter (1);	0.468359	0.24035	N	0.042151	T	0.79724	0.4495	N	0.17082	0.46	0.28617	N	0.908352	B;B;B	0.16166	0.016;0.0;0.0	B;B;B	0.15052	0.012;0.002;0.004	T	0.64668	-0.6353	10	0.16896	T	0.51	-16.5701	4.8517	0.13540	0.1368:0.3476:0.0:0.5156	.	131;131;131	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	V	131	ENSP00000296589:I131V;ENSP00000371534:I131V;ENSP00000421100:I131V;ENSP00000340444:I131V	ENSP00000296589:I131V	I	-	1	0	SLC45A2	34018269	0.404000	0.25328	0.998000	0.56505	0.998000	0.95712	0.538000	0.23160	0.100000	0.17581	0.523000	0.50628	ATT		PASS	0.398	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		7	28	7	28	---	---	---	---
PCYOX1L	78991	broad.mit.edu	37	5	148745559	148745559	+	Silent	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr5:148745559C>G	ENST00000274569.4	+	4	587	c.525C>G	c.(523-525)ctC>ctG	p.L175L	PCYOX1L_ENST00000514349.1_Silent_p.L85L	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	175					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)	p.L175L(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGCTCTACTCACTGG	0.547																																					Ovarian(62;1136 1477 27277 27495)	uc003lqk.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(523-525)CTC>CTG		prenylcysteine oxidase 1 like precursor							87.0	87.0	87.0					5																	148745559		2203	4300	6503	SO:0001819	synonymous_variant	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148745559C>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.525C>G	5.37:g.148745559C>G						PCYOX1L_uc003lql.2_Silent_p.L158L|PCYOX1L_uc010jgz.2_Intron|PCYOX1L_uc003lqm.2_Silent_p.L57L|PCYOX1L_uc003lqn.2_Silent_p.L85L	p.L175L	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	587	+			175					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Silent	SNP	ENST00000274569.4	37	c.525C>G	CCDS4296.1																																																																																				PASS	0.547	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		14	38	14	38	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150505989	150505989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr5:150505989C>A	ENST00000354546.5	-	14	1257	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	ANXA6_ENST00000356496.5_Nonsense_Mutation_p.E344*|ANXA6_ENST00000521512.1_Nonsense_Mutation_p.E137*|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Nonsense_Mutation_p.E312*	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	344					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.E396*(1)|p.E344*(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACTAAGTTCCCACATCTGA	0.572											OREG0016946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ltl.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1030-1032)GAA>TAA		annexin VI isoform 1							76.0	88.0	84.0					5																	150505989		2203	4300	6503	SO:0001587	stop_gained	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150505989C>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1030G>T	5.37:g.150505989C>A	ENSP00000346550:p.Glu344*		OREG0016946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ANXA6_uc011dcp.1_Nonsense_Mutation_p.E312*|ANXA6_uc003ltm.1_Nonsense_Mutation_p.E344*|ANXA6_uc003ltn.1_Nonsense_Mutation_p.E137*|ANXA6_uc003lto.1_Intron	p.E344*	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	1182	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	344					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Nonsense_Mutation	SNP	ENST00000354546.5	37	c.1030G>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	39	7.548356	0.98352	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000521512;ENST00000540153	.	.	.	5.41	5.41	0.78517	.	0.114139	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	17.9539	0.89062	0.0:1.0:0.0:0.0	.	.	.	.	X	344;312;344;137;218	.	ENSP00000346550:E344X	E	-	1	0	ANXA6	150486182	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.921000	0.75805	2.526000	0.85167	0.549000	0.68633	GAA		PASS	0.572	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		3	11	3	11	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169474568	169474568	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr5:169474568G>C	ENST00000256935.8	+	40	4101	c.4021G>C	c.(4021-4023)Gac>Cac	p.D1341H	DOCK2_ENST00000540750.1_Missense_Mutation_p.D402H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D833H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1341	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D1341H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCAAACCAGACTACTTTGC	0.507																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(4021-4023)GAC>CAC		dedicator of cytokinesis 2							99.0	97.0	97.0					5																	169474568		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169474568G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4021G>C	5.37:g.169474568G>C	ENSP00000256935:p.Asp1341His					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.D833H	p.D1341H	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4101	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1341			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4021G>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023853	0.93462	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08720	3.71;3.35;3.06	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.76002	2.32	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.02179	-1.1200	10	0.72032	D	0.01	.	19.2981	0.94131	0.0:0.0:1.0:0.0	.	833;1341	E7ERW7;Q92608	.;DOCK2_HUMAN	H	1341;833;402	ENSP00000256935:D1341H;ENSP00000429283:D833H;ENSP00000438827:D402H	ENSP00000256935:D1341H	D	+	1	0	DOCK2	169407146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.546000	0.85860	0.655000	0.94253	GAC		PASS	0.507	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		9	29	9	29	---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171305017	171305017	+	Silent	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr5:171305017C>A	ENST00000265094.5	-	7	1043	c.906G>T	c.(904-906)gtG>gtT	p.V302V	FBXW11_ENST00000393802.2_Silent_p.V268V|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Silent_p.V289V|FBXW11_ENST00000425623.2_Silent_p.V270V	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	302					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.V289V(1)|p.V302V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTCACCTCACCGTAGAAT	0.458																																						uc003mbm.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(904-906)GTG>GTT		F-box and WD repeat domain containing 11 isoform							109.0	94.0	99.0					5																	171305017		2203	4300	6503	SO:0001819	synonymous_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171305017C>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.906G>T	5.37:g.171305017C>A						FBXW11_uc011dey.1_Silent_p.V270V|FBXW11_uc003mbl.1_Silent_p.V289V|FBXW11_uc003mbn.1_Silent_p.V268V	p.V302V	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	1277	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	302			WD 2.		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	c.906G>T	CCDS34289.1																																																																																				PASS	0.458	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		13	32	13	32	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13053641	13053641	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:13053641G>A	ENST00000379350.1	+	4	424	c.295G>A	c.(295-297)Gtc>Atc	p.V99I	PHACTR1_ENST00000332995.7_Missense_Mutation_p.V99I|PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000379345.2_5'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	99					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.V99I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGACTCCCTCGTCCCAGGCAC	0.478																																						uc010jpc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GTC>ATC		phosphatase and actin regulator 1							38.0	39.0	39.0					6																	13053641		1956	4145	6101	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13053641G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.295G>A	6.37:g.13053641G>A	ENSP00000368655:p.Val99Ile					PHACTR1_uc011dir.1_Missense_Mutation_p.V99I|PHACTR1_uc003nag.1_Missense_Mutation_p.V99I|PHACTR1_uc003nah.1_Missense_Mutation_p.V99I	p.V99I	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	627	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	99					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.295G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.937124|2.937124	0.52972|0.52972	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000406205|ENST00000379350;ENST00000332995;ENST00000432934	.|T;T	.|0.34859	.|1.34;1.37	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.387835	.|0.24454	.|N	.|0.038399	T|T	0.15349|0.15349	0.0370|0.0370	L|L	0.28400|0.28400	0.85|0.85	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.44429	.|0.835;0.663;0.772	.|B;B;B	.|0.28385	.|0.06;0.041;0.089	T|T	0.05801|0.05801	-1.0863|-1.0863	5|10	.|0.52906	.|T	.|0.07	-10.3763|-10.3763	19.1361|19.1361	0.93429|0.93429	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|99;99;99	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	H|I	134|99	.|ENSP00000368655:V99I;ENSP00000329880:V99I	.|ENSP00000329880:V99I	R|V	+|+	2|1	0|0	PHACTR1|PHACTR1	13161627|13161627	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.946000|0.946000	0.59487|0.59487	6.565000|6.565000	0.73974|0.73974	2.778000|2.778000	0.95560|0.95560	0.609000|0.609000	0.83330|0.83330	CGT|GTC		PASS	0.478	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		8	19	8	19	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26385438	26385438	+	Missense_Mutation	SNP	G	G	A	rs144702884	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:26385438G>A	ENST00000356709.4	+	3	401	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	BTN2A2_ENST00000469230.1_Missense_Mutation_p.R97Q|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R97Q|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R97Q|BTN2A2_ENST00000352867.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	97	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R97Q(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GAGGAGTACCGGGGAAGAATC	0.552													G|||	6	0.00119808	0.0038	0.0	5008	,	,		18625	0.0		0.001	False		,,,				2504	0.0					uc003nhq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(289-291)CGG>CAG		butyrophilin, subfamily 2, member A2 isoform a		G	GLN/ARG,GLN/ARG,,GLN/ARG,GLN/ARG,	17,4389	24.3+/-50.5	0,17,2186	146.0	123.0	131.0		290,290,,290,290,	0.8	0.0	6	dbSNP_134	131	0,8600		0,0,4300	yes	missense,missense,intron,missense,missense,intron	BTN2A2	NM_001197237.1,NM_001197238.1,NM_001197239.1,NM_001197240.1,NM_006995.4,NM_181531.2	43,43,,43,43,	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging,	97/524,97/337,,97/257,97/524,	26385438	17,12989	2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385438G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.290G>A	6.37:g.26385438G>A	ENSP00000349143:p.Arg97Gln					BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Missense_Mutation_p.R97Q|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.R97Q|BTN2A2_uc003nht.2_Missense_Mutation_p.R97Q	p.R97Q	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			3	376	+			97			Extracellular (Potential).|Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.290G>A	CCDS4606.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	g	12.33	1.904457	0.33628	0.003858	0.0	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	3.75	0.809	0.18725	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.520563	0.16329	N	0.219190	T	0.24122	0.0584	L	0.35542	1.07	0.20403	N	0.999903	P;P;B	0.42757	0.789;0.786;0.332	B;B;B	0.35971	0.16;0.181;0.215	T	0.05451	-1.0884	10	0.38643	T	0.18	.	7.7204	0.28729	0.3155:0.0:0.6845:0.0	.	97;97;97	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	Q	97	ENSP00000417472:R97Q;ENSP00000349143:R97Q;ENSP00000418857:R97Q;ENSP00000394241:R97Q;ENSP00000399308:R97Q	ENSP00000349143:R97Q	R	+	2	0	BTN2A2	26493417	0.000000	0.05858	0.038000	0.18304	0.638000	0.38207	-0.315000	0.08081	0.113000	0.18004	0.449000	0.29647	CGG		PASS	0.552	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			22	64	22	64	---	---	---	---
HIST1H2AH	85235	broad.mit.edu	37	6	27115008	27115008	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:27115008T>G	ENST00000377459.1	+	1	148	c.101T>G	c.(100-102)cTg>cGg	p.L34R	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	34						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L34R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCACCGCCTGCTCCGCAAG	0.652																																						uc003niz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)CTG>CGG		histone cluster 1, H2ah							44.0	49.0	47.0					6																	27115008		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115008T>G	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.101T>G	6.37:g.27115008T>G	ENSP00000366679:p.Leu34Arg					HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.L34R	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN			1	101	+			34						Missense_Mutation	SNP	ENST00000377459.1	37	c.101T>G	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430091	0.25726	.	.	ENSG00000184825	ENST00000377459	T	0.66638	-0.22	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.32287	N	0.006301	T	0.71710	0.3372	M	0.86864	2.845	0.29211	N	0.874563	D	0.63046	0.992	P	0.56278	0.795	T	0.69518	-0.5124	10	0.87932	D	0	.	11.4199	0.49976	0.0:0.0:0.0:1.0	.	34	Q96KK5	H2A1H_HUMAN	R	34	ENSP00000366679:L34R	ENSP00000366679:L34R	L	+	2	0	HIST1H2AH	27222987	0.994000	0.37717	0.470000	0.27216	0.001000	0.01503	5.445000	0.66594	1.740000	0.51718	0.533000	0.62120	CTG		PASS	0.652	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		10	47	10	47	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28268508	28268508	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:28268508G>T	ENST00000405948.2	+	7	1297	c.877G>T	c.(877-879)Gca>Tca	p.A293S	PGBD1_ENST00000259883.3_Missense_Mutation_p.A293S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	293						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A293S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGAGAGTGTGCACCCCAGAT	0.423																																						uc003nky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(877-879)GCA>TCA		piggyBac transposable element derived 1							61.0	61.0	61.0					6																	28268508		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268508G>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.877G>T	6.37:g.28268508G>T	ENSP00000385213:p.Ala293Ser					PGBD1_uc003nkz.2_Missense_Mutation_p.A293S	p.A293S	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	1247	+			293					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.877G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.189954	0.01607	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01335	5.0;5.0	4.64	-1.74	0.08056	.	3.066220	0.01087	N	0.005101	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.48258	-0.9051	10	0.21540	T	0.41	-16.3375	4.206	0.10488	0.4786:0.0:0.3578:0.1636	.	293	Q96JS3	PGBD1_HUMAN	S	293	ENSP00000385213:A293S;ENSP00000259883:A293S	ENSP00000259883:A293S	A	+	1	0	PGBD1	28376487	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.489000	0.06490	-0.167000	0.10871	-0.136000	0.14681	GCA		PASS	0.423	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			6	62	6	62	---	---	---	---
OR2W1	26692	broad.mit.edu	37	6	29012694	29012694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:29012694C>A	ENST00000377175.1	-	1	323	c.259G>T	c.(259-261)Gga>Tga	p.G87*		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G87*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TTATCAGGTCCCCACAAGTTG	0.438																																						uc003nlw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(259-261)GGA>TGA		olfactory receptor, family 2, subfamily W,							80.0	73.0	75.0					6																	29012694		1511	2709	4220	SO:0001587	stop_gained	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012694C>A	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.259G>T	6.37:g.29012694C>A	ENSP00000366380:p.Gly87*						p.G87*	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	259	-			87			Extracellular (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Nonsense_Mutation	SNP	ENST00000377175.1	37	c.259G>T	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963892	0.92791	.	.	ENSG00000204704	ENST00000377175	.	.	.	4.63	4.63	0.57726	.	0.000000	0.48286	D	0.000192	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.0468	0.80725	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000366380:G87X	G	-	1	0	OR2W1	29120673	0.000000	0.05858	1.000000	0.80357	0.959000	0.62525	-0.310000	0.08135	2.087000	0.62958	0.585000	0.79938	GGA		PASS	0.438	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			8	48	8	48	---	---	---	---
C6orf10	10665	broad.mit.edu	37	6	32261379	32261379	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:32261379C>T	ENST00000447241.2	-	23	1243	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	C6orf10_ENST00000375007.4_Silent_p.G355G|C6orf10_ENST00000527965.1_Silent_p.G341G|C6orf10_ENST00000533191.1_Silent_p.G355G|C6orf10_ENST00000375015.4_Silent_p.G356G|C6orf10_ENST00000442822.2_Silent_p.G348G	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	357						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G357G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GTACAACCAACCCACTCTTCG	0.478																																						uc011dpy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1069-1071)GGG>GGA		chromosome 6 open reading frame 10							207.0	200.0	202.0					6																	32261379		1511	2709	4220	SO:0001819	synonymous_variant	10665					integral to membrane		g.chr6:32261379C>T	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1071G>A	6.37:g.32261379C>T						C6orf10_uc011dpx.1_Silent_p.G139G	p.G357G	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1244	-			357					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	c.1071G>A	CCDS34422.1																																																																																				PASS	0.478	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		36	87	36	87	---	---	---	---
CMTR1	23070	broad.mit.edu	37	6	37420895	37420895	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:37420895C>G	ENST00000373451.4	+	7	846	c.682C>G	c.(682-684)Cga>Gga	p.R228G		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	228					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.R228G(1)									TGAGATGATCCGAGGAGTCTT	0.507																																						uc003ons.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(682-684)CGA>GGA		FtsJ methyltransferase domain containing 2							196.0	192.0	193.0					6																	37420895		2203	4300	6503	SO:0001583	missense	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37420895C>G	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.682C>G	6.37:g.37420895C>G	ENSP00000362550:p.Arg228Gly					FTSJD2_uc010jwu.2_Intron	p.R228G	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			7	935	+			228					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.682C>G	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936292	0.52972	.	.	ENSG00000137200	ENST00000373451	.	.	.	5.92	5.92	0.95590	.	0.054104	0.85682	D	0.000000	T	0.52917	0.1764	L	0.50919	1.6	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47649	-0.9101	9	0.42905	T	0.14	-5.869	19.3225	0.94248	0.0:1.0:0.0:0.0	.	228	Q8N1G2	MTR1_HUMAN	G	228	.	ENSP00000362550:R228G	R	+	1	2	FTSJD2	37528873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.904000	0.63279	2.822000	0.97130	0.650000	0.86243	CGA		PASS	0.507	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		15	74	15	74	---	---	---	---
CENPQ	55166	broad.mit.edu	37	6	49459937	49459937	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:49459937G>T	ENST00000335783.3	+	9	850	c.756G>T	c.(754-756)aaG>aaT	p.K252N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	252					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.K252N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					CACAGATGAAGAGCATGTCAA	0.323																																						uc003ozh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(754-756)AAG>AAT		centromere protein Q							88.0	86.0	87.0					6																	49459937		2203	4299	6502	SO:0001583	missense	55166				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr6:49459937G>T	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.756G>T	6.37:g.49459937G>T	ENSP00000337289:p.Lys252Asn						p.K252N	NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN			9	845	+	Lung NSC(77;0.0128)		252					A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	c.756G>T	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723790	0.30593	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.46063	0.88	5.93	2.1	0.27182	.	0.291101	0.38837	N	0.001541	T	0.21103	0.0508	M	0.74881	2.28	0.09310	N	1	B	0.28552	0.215	B	0.29663	0.105	T	0.24333	-1.0163	10	0.72032	D	0.01	-9.9841	5.2043	0.15283	0.2435:0.1487:0.6078:0.0	.	252	Q7L2Z9	CENPQ_HUMAN	N	252	ENSP00000337289:K252N	ENSP00000337289:K252N	K	+	3	2	CENPQ	49567896	1.000000	0.71417	0.005000	0.12908	0.106000	0.19336	1.913000	0.39956	0.386000	0.24997	0.644000	0.83932	AAG		PASS	0.323	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		7	30	7	30	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70909429	70909429	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:70909429C>G	ENST00000322773.4	+	49	3314	c.3212C>G	c.(3211-3213)cCt>cGt	p.P1071R	COL19A1_ENST00000393344.1_Missense_Mutation_p.P693R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1071	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P1071R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAGGAGACCCTGGACCCCAA	0.468																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(3211-3213)CCT>CGT		alpha 1 type XIX collagen precursor							57.0	62.0	60.0					6																	70909429		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70909429C>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3212C>G	6.37:g.70909429C>G	ENSP00000316030:p.Pro1071Arg						p.P1071R	NM_001858	NP_001849	Q14993	COJA1_HUMAN			49	3329	+			1071			Triple-helical region 6 (COL6).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3212C>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629760	0.46944	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.95554	-3.74;-3.74	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.91620	0.7352	M	0.75884	2.315	0.46241	D	0.998943	B	0.30664	0.289	B	0.26517	0.07	D	0.89888	0.4035	10	0.14656	T	0.56	.	16.748	0.85477	0.0:0.8627:0.1373:0.0	.	1071	Q14993	COJA1_HUMAN	R	1071;693;146	ENSP00000316030:P1071R;ENSP00000377013:P693R	ENSP00000316030:P1071R	P	+	2	0	COL19A1	70966150	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	3.895000	0.56258	2.804000	0.96469	0.650000	0.86243	CCT		PASS	0.468	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			17	24	17	24	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84910599	84910599	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:84910599G>C	ENST00000403245.3	-	9	857	c.743C>G	c.(742-744)tCt>tGt	p.S248C	KIAA1009_ENST00000257766.4_Missense_Mutation_p.S172C	NM_014895.2	NP_055710.2												p.S248C(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTCTGCAACAGAGTCTAATGA	0.333																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(742-744)TCT>TGT		KIAA1009 protein							137.0	133.0	134.0					6																	84910599		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84910599G>C																												ENST00000403245.3:c.743C>G	6.37:g.84910599G>C	ENSP00000385215:p.Ser248Cys					KIAA1009_uc003pkj.3_Missense_Mutation_p.S172C|KIAA1009_uc003pkk.2_Missense_Mutation_p.S248C	p.S248C	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	9	840	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	248						Missense_Mutation	SNP	ENST00000403245.3	37	c.743C>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024563	0.54683	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.18174	2.23;2.23	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000005	T	0.37376	0.1001	M	0.78637	2.42	0.39005	D	0.959421	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.18209	-1.0344	10	0.87932	D	0	-9.5078	16.7715	0.85538	0.0:0.0:1.0:0.0	.	248;248	Q5TB80;C9JFM9	QN1_HUMAN;.	C	172;248	ENSP00000257766:S172C;ENSP00000385215:S248C	ENSP00000257766:S172C	S	-	2	0	KIAA1009	84967318	1.000000	0.71417	0.269000	0.24586	0.378000	0.30076	5.561000	0.67339	2.737000	0.93849	0.563000	0.77884	TCT		PASS	0.333	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			17	82	17	82	---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105259227	105259227	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:105259227C>A	ENST00000262903.4	-	7	852	c.576G>T	c.(574-576)agG>agT	p.R192S	HACE1_ENST00000369125.2_Missense_Mutation_p.R192S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	192					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.R192S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATACATTTGGCCTGTTAATAT	0.328																																						uc003pqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(574-576)AGG>AGT		HECT domain and ankyrin repeat containing, E3							113.0	111.0	112.0					6																	105259227		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105259227C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.576G>T	6.37:g.105259227C>A	ENSP00000262903:p.Arg192Ser					HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.R192S	p.R192S	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	7	853	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	192			ANK 4.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.576G>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787845	0.49997	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645	T;T;T	0.70631	-0.5;-0.5;-0.5	5.34	2.57	0.30868	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	N	0.03016	-0.435	0.53688	D	0.999974	D;P	0.59357	0.985;0.948	D;P	0.69824	0.966;0.765	T	0.57236	-0.7846	10	0.51188	T	0.08	.	4.9477	0.13999	0.1352:0.5658:0.0:0.299	.	192;192	E9PGP0;Q8IYU2	.;HACE1_HUMAN	S	192;192;148	ENSP00000262903:R192S;ENSP00000358121:R192S;ENSP00000429765:R148S	ENSP00000262903:R192S	R	-	3	2	HACE1	105365920	0.351000	0.24887	1.000000	0.80357	0.998000	0.95712	-0.444000	0.06854	0.633000	0.30452	0.563000	0.77884	AGG		PASS	0.328	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		17	61	17	61	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109867265	109867265	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:109867265C>T	ENST00000424296.2	-	26	3106	c.3030G>A	c.(3028-3030)caG>caA	p.Q1010Q	AK9_ENST00000355283.1_Silent_p.Q89Q|AK9_ENST00000341338.6_Silent_p.Q89Q	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1010	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.Q89Q(2)|p.Q1010Q(1)									TTTCTGCCAACTGTCTTCCAC	0.448																																						uc003ptn.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(3028-3030)CAG>CAA		adenylate kinase domain containing 1 isoform 1							90.0	103.0	98.0					6																	109867265		2202	4299	6501	SO:0001819	synonymous_variant	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109867265C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3030G>A	6.37:g.109867265C>T						AKD1_uc011eat.1_Silent_p.Q89Q	p.Q1010Q	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			26	3107	-			1010					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.3030G>A	CCDS55048.1																																																																																				PASS	0.448	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		12	89	12	89	---	---	---	---
CEP85L	387119	broad.mit.edu	37	6	118791756	118791756	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:118791756C>T	ENST00000368491.3	-	11	2587	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	CEP85L_ENST00000368488.5_Missense_Mutation_p.E659K	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	656						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E656K(1)									TCCAGCTCTTCCATCATCTTT	0.318																																						uc003pxz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1966-1968)GAA>AAA		chromosome 6 open reading frame 204 isoform a							100.0	99.0	99.0					6																	118791756		1808	4065	5873	SO:0001583	missense	387119					centrosome		g.chr6:118791756C>T	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1966G>A	6.37:g.118791756C>T	ENSP00000357477:p.Glu656Lys						p.E656K	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	11	2554	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	656			Potential.		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1966G>A	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462720	0.26248	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.11495	2.77;2.77	5.69	4.77	0.60923	.	0.694155	0.13864	N	0.357448	T	0.03783	0.0107	L	0.45137	1.4	0.30930	N	0.726976	B	0.27068	0.167	B	0.28011	0.085	T	0.30357	-0.9981	10	0.36615	T	0.2	-12.2392	5.5821	0.17254	0.0:0.6769:0.2008:0.1222	.	656	Q5SZL2	CF204_HUMAN	K	656;659	ENSP00000357477:E656K;ENSP00000357474:E659K	ENSP00000357474:E659K	E	-	1	0	C6orf204	118898449	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	1.783000	0.38664	2.687000	0.91594	0.655000	0.94253	GAA		PASS	0.318	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		13	34	13	34	---	---	---	---
CEP85L	387119	broad.mit.edu	37	6	118887127	118887127	+	Silent	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:118887127T>C	ENST00000368491.3	-	3	1206	c.585A>G	c.(583-585)caA>caG	p.Q195Q	CEP85L_ENST00000368488.5_Silent_p.Q198Q|CEP85L_ENST00000392500.3_Silent_p.Q198Q|CEP85L_ENST00000360290.3_Silent_p.Q93Q|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000419517.2_Silent_p.Q195Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	195						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q195Q(1)									TTGTCCTCAGTTGTGATGTTA	0.453																																						uc003pxz.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(583-585)CAA>CAG		chromosome 6 open reading frame 204 isoform a							171.0	166.0	168.0					6																	118887127		2203	4300	6503	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118887127T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.585A>G	6.37:g.118887127T>C						C6orf204_uc003pya.1_Silent_p.Q198Q|C6orf204_uc003pyb.2_Silent_p.Q195Q|C6orf204_uc011ebj.1_Silent_p.Q93Q|C6orf204_uc003pyc.2_Silent_p.Q198Q|C6orf204_uc011ebl.1_Silent_p.Q93Q	p.Q195Q	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	1173	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	195					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.585A>G	CCDS43498.1																																																																																				PASS	0.453	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		15	53	15	53	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165842174	165842174	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:165842174G>A	ENST00000366882.1	-	11	951	c.797C>T	c.(796-798)gCa>gTa	p.A266V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A276V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A266V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	266	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A266V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGAATCTATTGCAACTATGTT	0.308																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(796-798)GCA>GTA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						78.0	73.0	75.0					6																	165842174		2197	4290	6487	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165842174G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.797C>T	6.37:g.165842174G>A	ENSP00000355847:p.Ala266Val					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.A196V|PDE10A_uc003quo.2_Missense_Mutation_p.A276V	p.A266V	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	11	1038	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	266			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.797C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.364646	0.95877	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T;T	0.74632	-0.39;-0.86;-0.39	5.41	5.41	0.78517	GAF (1);	0.092876	0.85682	N	0.000000	T	0.64757	0.2627	N	0.04508	-0.205	0.80722	D	1	D;B	0.59767	0.986;0.153	P;B	0.59595	0.86;0.18	T	0.75855	-0.3170	10	0.66056	D	0.02	.	19.5385	0.95264	0.0:0.0:1.0:0.0	.	276;266	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	266;294;276;266;265	ENSP00000355847:A266V;ENSP00000438284:A294V;ENSP00000346435:A266V	ENSP00000341187:A276V	A	-	2	0	PDE10A	165762164	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.790000	0.91844	2.698000	0.92095	0.585000	0.79938	GCA		PASS	0.308	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	19	7	19	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168311987	168311987	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr6:168311987A>G	ENST00000447894.2	+	15	1855	c.1855A>G	c.(1855-1857)Att>Gtt	p.I619V	MLLT4_ENST00000392108.3_Missense_Mutation_p.I619V|MLLT4_ENST00000400822.3_Missense_Mutation_p.I618V|MLLT4_ENST00000344191.4_Missense_Mutation_p.I619V|MLLT4_ENST00000351017.4_Missense_Mutation_p.I619V|MLLT4_ENST00000392112.1_Missense_Mutation_p.I603V|MLLT4_ENST00000366806.2_Missense_Mutation_p.I619V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	619					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.I603V(1)|p.I619V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTGTCTGCCATTATAAATTA	0.328			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(1852-1854)ATT>GTT		myeloid/lymphoid or mixed-lineage leukemia							84.0	89.0	88.0					6																	168311987		2202	4300	6502	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168311987A>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1855A>G	6.37:g.168311987A>G	ENSP00000404595:p.Ile619Val					MLLT4_uc003qwb.1_Missense_Mutation_p.I603V|MLLT4_uc003qwc.1_Missense_Mutation_p.I619V|MLLT4_uc003qwf.2_Missense_Mutation_p.I304V|MLLT4_uc003qwg.1_5'Flank	p.I618V	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	15	1994	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	619					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.1852A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.36|10.36	1.329576|1.329576	0.24167|0.24167	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|T;T;T;T;T;T;T	.|0.04275	.|3.95;3.66;3.94;3.93;3.71;3.83;3.82	5.45|5.45	3.09|3.09	0.35607|0.35607	.|.	.|0.113450	.|0.64402	.|N	.|0.000015	T|T	0.04907|0.04907	0.0132|0.0132	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999974|0.999974	.|B;D;B;B	.|0.65815	.|0.167;0.995;0.08;0.253	.|B;D;B;B	.|0.77557	.|0.07;0.99;0.086;0.116	T|T	0.47971|0.47971	-0.9075|-0.9075	5|10	.|0.18710	.|T	.|0.47	-16.6576|-16.6576	9.3733|9.3733	0.38268|0.38268	0.8561:0.0:0.1439:0.0|0.8561:0.0:0.1439:0.0	.|.	.|317;618;619;603	.|Q96C95;P55196-5;P55196-6;P55196-2	.|.;.;.;.	R|V	317|619;619;619;619;603;619;618;619	.|ENSP00000341118:I619V;ENSP00000252692:I619V;ENSP00000375956:I619V;ENSP00000355771:I619V;ENSP00000375960:I603V;ENSP00000383623:I618V;ENSP00000404595:I619V	.|ENSP00000345834:I619V	H|I	+|+	2|1	0|0	MLLT4|MLLT4	168054836|168054836	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.798000|0.798000	0.45092|0.45092	4.111000|4.111000	0.57838|0.57838	0.391000|0.391000	0.25143|0.25143	0.383000|0.383000	0.25322|0.25322	CAT|ATT		PASS	0.328	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		44	75	44	75	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2269698	2269698	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:2269698C>A	ENST00000406869.1	-	3	628	c.71G>T	c.(70-72)cGt>cTt	p.R24L	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R24L|MAD1L1_ENST00000402746.1_Intron|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R24L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	24					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.R24L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCCCTCCACACGCTGAGAGAT	0.537																																						uc003slh.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(70-72)CGT>CTT		MAD1-like 1 protein							59.0	67.0	64.0					7																	2269698		2012	4183	6195	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2269698C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.71G>T	7.37:g.2269698C>A	ENSP00000385334:p.Arg24Leu					MAD1L1_uc003slf.1_Missense_Mutation_p.R24L|MAD1L1_uc003slg.1_Missense_Mutation_p.R24L|MAD1L1_uc010ksh.1_Missense_Mutation_p.R24L|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.R24L|MAD1L1_uc010ksj.2_Missense_Mutation_p.R24L	p.R24L	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	3	337	-		Ovarian(82;0.0272)	24					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.71G>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278508	0.23307	.	.	ENSG00000002822	ENST00000399654;ENST00000406869;ENST00000265854;ENST00000455998;ENST00000429779	T;T;T;T;T	0.51071	1.77;1.77;1.77;0.72;1.77	5.75	3.58	0.41010	.	0.133224	0.51477	D	0.000090	T	0.50922	0.1644	L	0.59436	1.845	0.24505	N	0.994232	P;P	0.48834	0.916;0.653	P;B	0.51297	0.665;0.293	T	0.39742	-0.9599	10	0.33940	T	0.23	-10.6724	9.9462	0.41611	0.0:0.7716:0.1435:0.0849	.	24;24	A4D218;Q9Y6D9	.;MD1L1_HUMAN	L	24	ENSP00000382562:R24L;ENSP00000385334:R24L;ENSP00000265854:R24L;ENSP00000390099:R24L;ENSP00000395457:R24L	ENSP00000265854:R24L	R	-	2	0	MAD1L1	2236224	0.833000	0.29383	0.865000	0.33974	0.891000	0.51852	1.776000	0.38594	1.396000	0.46663	0.655000	0.94253	CGT		PASS	0.537	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		9	12	9	12	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21744181	21744181	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:21744181G>C	ENST00000409508.3	+	38	6434	c.6403G>C	c.(6403-6405)Gaa>Caa	p.E2135Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E2142Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2142					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2142Q(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTGCACTTTGAACAGATGGT	0.537									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6424-6426)GAA>CAA		dynein, axonemal, heavy chain 11							71.0	73.0	73.0					7																	21744181		1999	4177	6176	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21744181G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6403G>C	7.37:g.21744181G>C	ENSP00000475939:p.Glu2135Gln						p.E2142Q	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			39	6455	+			2142					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6424G>C		.	.	.	.	.	.	.	.	.	.	G	33	5.281282	0.95489	.	.	ENSG00000105877	ENST00000328843	T	0.39592	1.07	5.44	5.44	0.79542	.	0.104902	0.64402	D	0.000006	T	0.58538	0.2129	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.58130	0.833	T	0.53315	-0.8456	9	0.34782	T	0.22	.	19.6049	0.95576	0.0:0.0:1.0:0.0	.	2142	Q96DT5	DYH11_HUMAN	Q	2142	ENSP00000330671:E2142Q	ENSP00000330671:E2142Q	E	+	1	0	DNAH11	21710706	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.813000	0.99286	2.706000	0.92434	0.563000	0.77884	GAA		PASS	0.537	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		18	37	18	37	---	---	---	---
ZPBP	11055	broad.mit.edu	37	7	50057903	50057903	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:50057903A>T	ENST00000046087.2	-	6	785	c.716T>A	c.(715-717)cTa>cAa	p.L239Q	ZPBP_ENST00000419417.1_Missense_Mutation_p.L238Q|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	239					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.L239Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTCAGTGTCTAGAGATGAAAC	0.299																																						uc003tou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)CTA>CAA		zona pellucida binding protein isoform 1							80.0	78.0	79.0					7																	50057903		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50057903A>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.716T>A	7.37:g.50057903A>T	ENSP00000046087:p.Leu239Gln					ZPBP_uc011kci.1_Missense_Mutation_p.L165Q|ZPBP_uc010kyw.2_Missense_Mutation_p.L238Q	p.L239Q	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			6	786	-	Glioma(55;0.08)|all_neural(89;0.245)		239					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.716T>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158554	0.57368	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.59364	0.27;0.27	4.1	4.1	0.47936	.	0.594559	0.14863	N	0.293977	T	0.68256	0.2981	L	0.54323	1.7	0.33298	D	0.564464	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.72606	-0.4242	9	.	.	.	-4.8035	9.7709	0.40589	1.0:0.0:0.0:0.0	.	238;239	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	Q	239;238	ENSP00000046087:L239Q;ENSP00000402071:L238Q	.	L	-	2	0	ZPBP	50028449	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.963000	0.40452	2.075000	0.62263	0.519000	0.50382	CTA		PASS	0.299	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		4	21	4	21	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963726	88963726	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:88963726C>A	ENST00000333190.4	+	4	2039	c.1430C>A	c.(1429-1431)cCa>cAa	p.P477Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	477							metal ion binding (GO:0046872)	p.P477Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGCTGCAACCCACTGTATTTT	0.428										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1429-1431)CCA>CAA		zinc finger protein 804B							56.0	54.0	54.0					7																	88963726		2202	4299	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963726C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1430C>A	7.37:g.88963726C>A	ENSP00000329638:p.Pro477Gln	HNSCC(36;0.09)					p.P477Q	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1968	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		477					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1430C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417709	0.83449	.	.	ENSG00000182348	ENST00000333190	T	0.60424	0.19	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.78880	0.4353	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80540	-0.1337	10	0.87932	D	0	-16.6668	19.5755	0.95441	0.0:1.0:0.0:0.0	.	477	A4D1E1	Z804B_HUMAN	Q	477	ENSP00000329638:P477Q	ENSP00000329638:P477Q	P	+	2	0	ZNF804B	88801662	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	5.603000	0.67619	2.865000	0.98341	0.655000	0.94253	CCA		PASS	0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		17	31	17	31	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686315	100686315	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:100686315G>A	ENST00000306151.4	+	3	11682	c.11618G>A	c.(11617-11619)aGc>aAc	p.S3873N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3873					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.S3873N(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)					AGTGAAAGAAGCACTCCATTA	0.473																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11617-11619)AGC>AAC		mucin 17 precursor							158.0	145.0	149.0					7																	100686315		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686315G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11618G>A	7.37:g.100686315G>A	ENSP00000302716:p.Ser3873Asn					MUC17_uc010lho.1_RNA	p.S3873N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11671	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3873			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11618G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	9.880	1.201400	0.22121	.	.	ENSG00000169876	ENST00000306151	T	0.02345	4.33	1.14	-2.28	0.06826	.	.	.	.	.	T	0.03095	0.0091	N	0.19112	0.55	0.09310	N	1	D	0.56035	0.974	P	0.56278	0.795	T	0.40059	-0.9583	9	0.21014	T	0.42	.	2.6435	0.04978	0.0:0.3106:0.3792:0.3102	.	3873	Q685J3	MUC17_HUMAN	N	3873	ENSP00000302716:S3873N	ENSP00000302716:S3873N	S	+	2	0	MUC17	100473035	0.043000	0.20138	0.000000	0.03702	0.246000	0.25737	-0.240000	0.08952	-0.345000	0.08325	0.187000	0.17357	AGC		PASS	0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		25	69	25	69	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101847741	101847741	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:101847741A>T	ENST00000292535.7	+	19	3016	c.2978A>T	c.(2977-2979)cAg>cTg	p.Q993L	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.Q971L|CUX1_ENST00000550008.2_Missense_Mutation_p.Q937L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.Q1004L|CUX1_ENST00000556210.1_Missense_Mutation_p.Q835L|CUX1_ENST00000546411.2_Missense_Mutation_p.Q891L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	993					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.Q993L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGCTGACGCAGAAAGGCCGA	0.632																																						uc003uyx.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2977-2979)CAG>CTG		cut-like homeobox 1 isoform a							112.0	98.0	103.0					7																	101847741		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101847741A>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2978A>T	7.37:g.101847741A>T	ENSP00000292535:p.Gln993Leu					CUX1_uc003uys.3_Missense_Mutation_p.Q1004L|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.Q993L	NM_181552	NP_853530	P39880	CUX1_HUMAN			19	3016	+			993			CUT 2.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2978A>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229817	0.79688	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.66460	-0.2;-0.18;-0.2;-0.21;-0.19;-0.21	5.71	5.71	0.89125	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	L	0.40543	1.245	0.80722	D	1	D;D	0.67145	0.969;0.996	D;D	0.77557	0.968;0.99	T	0.76072	-0.3093	10	0.48119	T	0.1	-29.5926	15.9808	0.80108	1.0:0.0:0.0:0.0	.	993;1004	P39880;P39880-3	CUX1_HUMAN;.	L	1004;993;971;937;891;835	ENSP00000353401:Q1004L;ENSP00000292535:Q993L;ENSP00000446630:Q971L;ENSP00000447373:Q937L;ENSP00000450125:Q891L;ENSP00000451558:Q835L	ENSP00000292535:Q993L	Q	+	2	0	CUX1	101634461	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.178000	0.69098	0.482000	0.46254	CAG		PASS	0.632	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		22	56	22	56	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122047684	122047684	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:122047684C>A	ENST00000449022.2	-	20	2675	c.2656G>T	c.(2656-2658)Gat>Tat	p.D886Y	CADPS2_ENST00000313070.7_Missense_Mutation_p.D880Y|CADPS2_ENST00000412584.2_Missense_Mutation_p.D880Y|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000334010.7_Missense_Mutation_p.D884Y	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	886	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.D883Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTGTCCATATCCACTGTAAAT	0.403																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2656-2658)GAT>TAT		Ca2+-dependent activator protein for secretion 2							55.0	56.0	55.0					7																	122047684		1982	4175	6157	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122047684C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2656G>T	7.37:g.122047684C>A	ENSP00000398481:p.Asp886Tyr					CADPS2_uc011knx.1_Missense_Mutation_p.D261Y|CADPS2_uc003vkg.3_Missense_Mutation_p.D580Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D880Y	p.D886Y	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			19	2819	-			886			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2656G>T	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	24.3|24.3|24.3	4.514431|4.514431|4.514431	0.85389|0.85389|0.85389	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721|ENST00000462699	T;T;T;T|.|.	0.61510|.|.	0.1;1.54;0.1;1.54|.|.	5.44|5.44|5.44	5.44|5.44|5.44	0.79542|0.79542|0.79542	Calcium-dependent secretion activator (1);Munc13 homology 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75184|0.75184|0.75184	0.3815|0.3815|0.3815	M|M|M	0.68952|0.68952|0.68952	2.095|2.095|2.095	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.87578|.|.	0.985;0.994;0.985;0.998|.|.	T|T|T	0.73515|0.73515|0.73515	-0.3958|-0.3958|-0.3958	10|5|5	0.87932|.|.	D|.|.	0|.|.	-21.0556|-21.0556|-21.0556	19.2741|19.2741|19.2741	0.94023|0.94023|0.94023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	890;880;886;880|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	Y|V|C	59;880;884;891;847;880;886|528|79	ENSP00000325581:D880Y;ENSP00000333940:D884Y;ENSP00000400401:D880Y;ENSP00000398481:D886Y|.|.	ENSP00000325581:D880Y|.|.	D|G|W	-|-|-	1|2|3	0|0|0	CADPS2|CADPS2|CADPS2	121834920|121834920|121834920	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.802000|0.802000|0.802000	0.45316|0.45316|0.45316	7.792000|7.792000|7.792000	0.85828|0.85828|0.85828	2.558000|2.558000|2.558000	0.86282|0.86282|0.86282	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|GGA|TGG		PASS	0.403	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		9	20	9	20	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700549	136700549	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:136700549G>T	ENST00000445907.2	+	3	1465	c.937G>T	c.(937-939)Ggc>Tgc	p.G313C	hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G313C|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G313C|CHRM2_ENST00000320658.5_Missense_Mutation_p.G313C|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G313C|CHRM2_ENST00000397608.3_Missense_Mutation_p.G313C	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	313					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.G313C(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)	CACTTCCCTGGGCCATTCCAA	0.463																																						uc003vtf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(937-939)GGC>TGC		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)						92.0	93.0	93.0					7																	136700549		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.chr7:136700549G>T		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.937G>T	7.37:g.136700549G>T	ENSP00000399745:p.Gly313Cys					CHRM2_uc003vtg.1_Missense_Mutation_p.G313C|CHRM2_uc003vtj.1_Missense_Mutation_p.G313C|CHRM2_uc003vtk.1_Missense_Mutation_p.G313C|CHRM2_uc003vtl.1_Missense_Mutation_p.G313C|CHRM2_uc003vtm.1_Missense_Mutation_p.G313C|CHRM2_uc003vti.1_Missense_Mutation_p.G313C|CHRM2_uc003vto.1_Missense_Mutation_p.G313C|CHRM2_uc003vtn.1_Missense_Mutation_p.G313C|uc003vtp.1_Intron	p.G313C	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1560	+			313			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.937G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124234	0.37533	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.4	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.336949	0.27956	N	0.017163	T	0.58235	0.2108	L	0.49778	1.585	0.29159	N	0.877903	P	0.42409	0.779	P	0.47528	0.549	T	0.59064	-0.7524	10	0.59425	D	0.04	-14.312	10.5003	0.44802	0.1481:0.0:0.8519:0.0	.	313	P08172	ACM2_HUMAN	C	313	ENSP00000399745:G313C;ENSP00000415386:G313C;ENSP00000319984:G313C;ENSP00000380733:G313C;ENSP00000384937:G313C;ENSP00000384401:G313C	ENSP00000319984:G313C	G	+	1	0	CHRM2	136351089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.006000	0.40874	1.292000	0.44672	-0.137000	0.14449	GGC		PASS	0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			34	58	34	58	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158705762	158705762	+	Silent	SNP	G	G	T	rs373874385		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr7:158705762G>T	ENST00000407559.3	+	13	1835	c.1677G>T	c.(1675-1677)ccG>ccT	p.P559P		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	559					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P559P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CCCAGCACCCGGGAGAAAGTA	0.378																																						uc003woe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1675-1677)CCG>CCT		WD repeat domain 60							99.0	110.0	106.0					7																	158705762		1889	4105	5994	SO:0001819	synonymous_variant	55112							g.chr7:158705762G>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1677G>T	7.37:g.158705762G>T						WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.P191P	p.P559P	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	13	1835	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	559					Q9NW58	Silent	SNP	ENST00000407559.3	37	c.1677G>T	CCDS47757.1																																																																																				PASS	0.378	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		12	26	12	26	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3224705	3224705	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr8:3224705C>T	ENST00000520002.1	-	21	3522	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E	CSMD1_ENST00000602723.1_Silent_p.E989E|CSMD1_ENST00000400186.3_Silent_p.E989E|CSMD1_ENST00000539096.1_Silent_p.E988E|CSMD1_ENST00000537824.1_Silent_p.E988E|CSMD1_ENST00000602557.1_Silent_p.E989E|CSMD1_ENST00000542608.1_Silent_p.E988E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	989	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.E717E(1)|p.E988E(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACTTCCATCCTCTGTGATCA	0.512																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2965-2967)GAG>GAA		CUB and Sushi multiple domains 1 precursor							56.0	56.0	56.0					8																	3224705		1861	4107	5968	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3224705C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2967G>A	8.37:g.3224705C>T						CSMD1_uc011kwj.1_Silent_p.E381E|CSMD1_uc003wqe.2_Silent_p.E145E	p.E989E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	20	3357	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	989			Extracellular (Potential).|CUB 6.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2967G>A		.	.	.	.	.	.	.	.	.	.	C	0.669	-0.802643	0.02841	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.43	2.27	0.28462	.	.	.	.	.	T	0.52468	0.1736	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42949	-0.9421	4	.	.	.	.	5.3498	0.16030	0.0:0.425:0.0:0.575	.	.	.	.	R	469	.	.	G	-	1	0	CSMD1	3212112	1.000000	0.71417	0.970000	0.41538	0.058000	0.15608	1.211000	0.32382	0.676000	0.31285	-0.252000	0.11476	GGA		PASS	0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	40	4	40	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41554238	41554238	+	Silent	SNP	C	C	T	rs373534758		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr8:41554238C>T	ENST00000347528.4	-	25	2774	c.2691G>A	c.(2689-2691)gaG>gaA	p.E897E	ANK1_ENST00000379758.2_Silent_p.E897E|ANK1_ENST00000265709.8_Silent_p.E938E|ANK1_ENST00000396945.1_Silent_p.E897E|ANK1_ENST00000289734.7_Silent_p.E897E|ANK1_ENST00000396942.1_Silent_p.E897E|ANK1_ENST00000352337.4_Silent_p.E897E	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	897					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E897E(1)|p.E938E(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTCTGAGGTCTCGGTGGCCG	0.647																																						uc003xok.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(2689-2691)GAG>GAA		ankyrin 1 isoform 1		C	,,,,	0,4406		0,0,2203	43.0	48.0	46.0		2691,2814,2691,2691,2691	4.8	1.0	8		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	897/1881,938/1898,897/1857,897/1882,897/1720	41554238	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554238C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2691G>A	8.37:g.41554238C>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.E213E|ANK1_uc003xoi.2_Silent_p.E897E|ANK1_uc003xoj.2_Silent_p.E897E|ANK1_uc003xol.2_Silent_p.E897E|ANK1_uc003xom.2_Silent_p.E938E	p.E897E	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		25	2775	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	897					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2691G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	6.072	0.381548	0.11524	0.0	1.16E-4	ENSG00000029534	ENST00000520299	.	.	.	5.67	4.79	0.61399	.	.	.	.	.	T	0.64159	0.2573	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62803	-0.6777	4	.	.	.	.	12.4698	0.55781	0.0:0.8608:0.0:0.1392	.	.	.	.	N	219	.	.	D	-	1	0	ANK1	41673395	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	2.023000	0.41040	1.409000	0.46915	0.561000	0.74099	GAC		PASS	0.647	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		10	16	10	16	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61654299	61654299	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr8:61654299C>T	ENST00000423902.2	+	2	787	c.308C>T	c.(307-309)tCg>tTg	p.S103L	CHD7_ENST00000524602.1_Missense_Mutation_p.S103L|CHD7_ENST00000525508.1_Missense_Mutation_p.S103L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	103			S -> T (in dbSNP:rs41272435). {ECO:0000269|PubMed:21158681}.		adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S103L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCTCCGCACTCGCAGTATCAC	0.547																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(307-309)TCG>TTG		chromodomain helicase DNA binding protein 7							55.0	60.0	59.0					8																	61654299		2159	4254	6413	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654299C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.308C>T	8.37:g.61654299C>T	ENSP00000392028:p.Ser103Leu						p.S103L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	785	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	103					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.308C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669618	0.47677	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.53423	0.62;0.62;0.62	5.36	4.48	0.54585	.	0.000000	0.34555	N	0.003874	T	0.43875	0.1267	L	0.50333	1.59	0.48288	D	0.99962	B	0.12013	0.005	B	0.04013	0.001	T	0.40831	-0.9542	10	0.87932	D	0	-6.5729	13.7672	0.63002	0.0:0.9258:0.0:0.0742	.	103	Q9P2D1	CHD7_HUMAN	L	103	ENSP00000392028:S103L;ENSP00000437061:S103L;ENSP00000436027:S103L	ENSP00000307304:S103L	S	+	2	0	CHD7	61816853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.698000	0.61789	1.270000	0.44297	0.585000	0.79938	TCG		PASS	0.547	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		15	26	15	26	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86050585	86050585	+	Silent	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr8:86050585G>C	ENST00000360375.3	+	17	2864	c.2715G>C	c.(2713-2715)cgG>cgC	p.R905R	LRRCC1_ENST00000414626.2_Silent_p.R885R	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	905					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R905R(1)|p.R885R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACTGAATCGGAAGTGGCATG	0.289																																						uc003ycw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2713-2715)CGG>CGC		sodium channel associated protein 2 isoform a							65.0	62.0	63.0					8																	86050585		1811	4061	5872	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86050585G>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2715G>C	8.37:g.86050585G>C						LRRCC1_uc003ycx.2_Silent_p.R812R|LRRCC1_uc003ycy.2_Silent_p.R885R	p.R905R	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			17	2869	+			905					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.2715G>C	CCDS43750.1																																																																																				PASS	0.289	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		18	53	18	53	---	---	---	---
AZIN1	51582	broad.mit.edu	37	8	103848592	103848592	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr8:103848592T>C	ENST00000337198.5	-	6	1639	c.476A>G	c.(475-477)gAt>gGt	p.D159G	AZIN1_ENST00000347770.4_Missense_Mutation_p.D159G|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	159					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)	p.D159G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TCCAATATTATCTTCTGTTGC	0.413																																						uc003ykx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)GAT>GGT		ornithine decarboxylase antizyme inhibitor							181.0	166.0	171.0					8																	103848592		2203	4300	6503	SO:0001583	missense	51582				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103848592T>C	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.476A>G	8.37:g.103848592T>C	ENSP00000337180:p.Asp159Gly					AZIN1_uc003yky.2_Missense_Mutation_p.D159G	p.D159G	NM_015878	NP_056962	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		7	1218	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		159					A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	c.476A>G	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482212	0.44147	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.50813	0.73;0.73	6.08	4.93	0.64822	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.147638	0.64402	D	0.000011	T	0.41627	0.1167	L	0.41079	1.255	0.47214	D	0.999359	B	0.16802	0.019	B	0.31191	0.125	T	0.30208	-0.9986	10	0.52906	T	0.07	-7.7807	9.3781	0.38295	0.0:0.1365:0.0:0.8635	.	159	O14977	AZIN1_HUMAN	G	159	ENSP00000337180:D159G;ENSP00000321507:D159G	ENSP00000337180:D159G	D	-	2	0	AZIN1	103917768	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.993000	0.63895	1.120000	0.41904	0.482000	0.46254	GAT		PASS	0.413	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			22	77	22	77	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5300281	5300281	+	Silent	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr9:5300281G>C	ENST00000381627.3	-	2	763	c.375C>G	c.(373-375)ctC>ctG	p.L125L	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	125					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L125L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ATTCTTCAAAGAGAAGACTGG	0.398																																						uc003zja.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)CTC>CTG		relaxin 2 isoform 1 preproprotein							115.0	117.0	117.0					9																	5300281		2203	4300	6503	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300281G>C		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.375C>G	9.37:g.5300281G>C						RLN2_uc003ziz.1_3'UTR	p.L125L	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	375	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	125					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.375C>G	CCDS6460.1																																																																																				PASS	0.398	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		13	45	13	45	---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107267037	107267037	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr9:107267037C>A	ENST00000334726.2	+	1	583	c.494C>A	c.(493-495)cCa>cAa	p.P165Q		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P165Q(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGTGCTGCCACTGTCTCTC	0.473																																						uc011lvm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(493-495)CCA>CAA		olfactory receptor, family 13, subfamily F,							174.0	164.0	168.0					9																	107267037		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267037C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.494C>A	9.37:g.107267037C>A	ENSP00000334452:p.Pro165Gln						p.P165Q	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	494	+			165			Extracellular (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.494C>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.744700	0.00675	.	.	ENSG00000186881	ENST00000334726	T	0.00137	8.68	4.29	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	1.663630	0.03187	N	0.172886	T	0.00039	0.0001	N	0.00124	-2.055	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.24261	-1.0165	10	0.02654	T	1	.	9.1981	0.37240	0.4936:0.5064:0.0:0.0	.	165	Q8NGS4	O13F1_HUMAN	Q	165	ENSP00000334452:P165Q	ENSP00000334452:P165Q	P	+	2	0	OR13F1	106306858	0.000000	0.05858	0.769000	0.31535	0.857000	0.48899	-0.224000	0.09164	1.028000	0.39785	0.650000	0.86243	CCA		PASS	0.473	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			17	32	17	32	---	---	---	---
TOR1B	27348	broad.mit.edu	37	9	132565604	132565604	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr9:132565604C>T	ENST00000259339.2	+	1	173	c.113C>T	c.(112-114)tCg>tTg	p.S38L	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	38					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S38L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GGGGCCGCGTCGGCCATCACC	0.736																																						uc004byk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)TCG>TTG		torsin family 1, member B (torsin B) precursor							16.0	15.0	15.0					9																	132565604		2141	4202	6343	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132565604C>T	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.113C>T	9.37:g.132565604C>T	ENSP00000259339:p.Ser38Leu						p.S38L	NM_014506	NP_055321	O14657	TOR1B_HUMAN			1	173	+		Ovarian(14;0.0586)	38						Missense_Mutation	SNP	ENST00000259339.2	37	c.113C>T	CCDS6929.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.91|14.91	2.675760|2.675760	0.47781|0.47781	.|.	.|.	ENSG00000136816|ENSG00000136816	ENST00000427860|ENST00000259339;ENST00000437263	.|T	.|0.52526	.|0.66	5.0|5.0	4.1|4.1	0.47936|0.47936	.|.	.|0.137368	.|0.50627	.|D	.|0.000105	T|T	0.43942|0.43942	0.1270|0.1270	M|M	0.65975|0.65975	2.015|2.015	0.48040|0.48040	D|D	0.999573|0.999573	.|B	.|0.13145	.|0.007	.|B	.|0.11329	.|0.006	T|T	0.31166|0.31166	-0.9953|-0.9953	5|10	.|0.25106	.|T	.|0.35	-2.7719|-2.7719	10.7268|10.7268	0.46072|0.46072	0.0:0.911:0.0:0.089|0.0:0.911:0.0:0.089	.|.	.|38	.|O14657	.|TOR1B_HUMAN	W|L	20|38	.|ENSP00000259339:S38L	.|ENSP00000259339:S38L	R|S	+|+	1|2	2|0	TOR1B|TOR1B	131605425|131605425	1.000000|1.000000	0.71417|0.71417	0.016000|0.016000	0.15963|0.15963	0.333000|0.333000	0.28666|0.28666	4.755000|4.755000	0.62198|0.62198	1.106000|1.106000	0.41623|0.41623	0.491000|0.491000	0.48974|0.48974	CGG|TCG		PASS	0.736	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		4	4	4	4	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30336572	30336572	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:30336572C>T	ENST00000375377.1	-	2	271	c.170G>A	c.(169-171)cGt>cAt	p.R57H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	57					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.R57H(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGACGTCTTACGATGTGCGAG	0.662																																						uc001iux.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(169-171)CGT>CAT		hypothetical protein LOC57608							46.0	51.0	49.0					10																	30336572		2029	4174	6203	SO:0001583	missense	57608							g.chr10:30336572C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.170G>A	10.37:g.30336572C>T	ENSP00000364526:p.Arg57His					KIAA1462_uc001iuy.2_Missense_Mutation_p.R57H|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.R57H	p.R57H	NM_020848	NP_065899	Q9P266	K1462_HUMAN			1	229	-			57					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.170G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247461	0.39697	.	.	ENSG00000165757	ENST00000375377	T	0.12255	2.7	5.06	0.88	0.19161	.	0.673294	0.14424	N	0.320462	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	B	0.17852	0.024	B	0.11329	0.006	T	0.28776	-1.0033	10	0.41790	T	0.15	-6.0436	4.8473	0.13519	0.1532:0.5845:0.0:0.2623	.	57	Q9P266	K1462_HUMAN	H	57	ENSP00000364526:R57H	ENSP00000364526:R57H	R	-	2	0	KIAA1462	30376578	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.229000	0.17833	0.661000	0.30985	-0.373000	0.07131	CGT		PASS	0.662	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	38	12	38	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809073	31809073	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:31809073C>T	ENST00000320985.10	+	7	920	c.810C>T	c.(808-810)tgC>tgT	p.C270C	ZEB1_ENST00000361642.5_Silent_p.C271C|ZEB1_ENST00000446923.2_Silent_p.C254C|ZEB1_ENST00000542815.3_Silent_p.C203C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.C250C			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	270					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C270C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CATATGAATGCCCAAACTGCA	0.358																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(808-810)TGC>TGT		zinc finger E-box binding homeobox 1 isoform b							53.0	54.0	54.0					10																	31809073		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809073C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.810C>T	10.37:g.31809073C>T						ZEB1_uc001ivr.3_Silent_p.C52C|ZEB1_uc010qee.1_Silent_p.C52C|ZEB1_uc010qef.1_Silent_p.C52C|ZEB1_uc009xlj.1_Silent_p.C196C|ZEB1_uc010qeg.1_Silent_p.C129C|ZEB1_uc009xlk.1_Silent_p.C52C|ZEB1_uc001ivt.3_Silent_p.C52C|ZEB1_uc001ivu.3_Silent_p.C271C|ZEB1_uc001ivv.3_Silent_p.C250C|ZEB1_uc010qeh.1_Silent_p.C203C|ZEB1_uc009xlo.1_Silent_p.C253C|ZEB1_uc009xlp.2_Silent_p.C254C	p.C270C	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	873	+		Prostate(175;0.0156)	270			C2H2-type 4; atypical.		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.810C>T	CCDS7169.1																																																																																				PASS	0.358	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		8	19	8	19	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37431132	37431132	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:37431132C>T	ENST00000602533.1	+	7	1238	c.1139C>T	c.(1138-1140)tCt>tTt	p.S380F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S380F|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.S380F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	436					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S380F(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGTAACATCTAATAAAACT	0.388																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1138-1140)TCT>TTT		ankyrin repeat domain 30A							66.0	65.0	65.0					10																	37431132		1867	4108	5975	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431132C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1139C>T	10.37:g.37431132C>T	ENSP00000473551:p.Ser380Phe						p.S380F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1238	+			436					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1139C>T		.	.	.	.	.	.	.	.	.	.	.	7.946	0.743780	0.15642	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.36878	1.32;1.23	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.19327	0.0464	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.38378	0.272	T	0.11743	-1.0575	8	0.56958	D	0.05	.	.	.	.	.	436	Q9BXX3	AN30A_HUMAN	F	380	ENSP00000354432:S380F;ENSP00000363792:S380F	ENSP00000354432:S380F	S	+	2	0	ANKRD30A	37471138	0.055000	0.20627	0.033000	0.17914	0.033000	0.12548	0.215000	0.17562	0.132000	0.18615	0.134000	0.15878	TCT		PASS	0.388	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		27	64	27	64	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49431303	49431303	+	Missense_Mutation	SNP	G	G	C	rs564503106		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:49431303G>C	ENST00000374201.3	-	11	1481	c.1179C>G	c.(1177-1179)ttC>ttG	p.F393L	FRMPD2_ENST00000305531.3_Missense_Mutation_p.F369L|FRMPD2_ENST00000407470.4_Missense_Mutation_p.F362L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	393	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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.F393L(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)		CCAGGAAAAAGAACTCTTTGC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		21708	0.001		0.0	False		,,,				2504	0.0					uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1177-1179)TTC>TTG		FERM and PDZ domain containing 2 isoform 3							69.0	65.0	66.0					10																	49431303		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49431303G>C	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.1179C>G	10.37:g.49431303G>C	ENSP00000363317:p.Phe393Leu					FRMPD2_uc001jgh.2_Missense_Mutation_p.F362L|FRMPD2_uc001jgj.2_Missense_Mutation_p.F371L	p.F393L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	11	1286	-			393			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1179C>G	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872627	0.72180	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.76839	-1.05;-1.05;-1.05	5.41	4.5	0.54988	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.84629	0.5514	M	0.75447	2.3	0.37668	D	0.923019	D;P;D	0.71674	0.998;0.87;0.998	D;P;D	0.80764	0.994;0.846;0.994	D	0.84245	0.0474	9	0.29301	T	0.29	.	8.2649	0.31808	0.1795:0.0:0.8205:0.0	.	369;393;362	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	L	393;369;362	ENSP00000363317:F393L;ENSP00000307079:F369L;ENSP00000384339:F362L	ENSP00000307079:F369L	F	-	3	2	FRMPD2	49101309	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.012000	0.29924	1.284000	0.44531	0.561000	0.74099	TTC		PASS	0.478	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		8	36	8	36	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50532080	50532080	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:50532080C>A	ENST00000374144.3	+	3	1778	c.1490C>A	c.(1489-1491)cCt>cAt	p.P497H	C10orf71_ENST00000323868.4_Missense_Mutation_p.P497H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	497								p.P497H(2)		endometrium(1)	1						TCCAAAGCCCCTAGCCTGCTG	0.517																																						uc010qgp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1489-1491)CCT>CAT		hypothetical protein LOC118461 isoform 2							38.0	41.0	40.0					10																	50532080		2066	4203	6269	SO:0001583	missense	118461							g.chr10:50532080C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1490C>A	10.37:g.50532080C>A	ENSP00000363259:p.Pro497His						p.P497H	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1829	+			497					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1490C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667719	0.88348	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.19532	2.14;3.27	5.57	5.57	0.84162	.	0.000000	0.38663	N	0.001608	T	0.45796	0.1360	L	0.57536	1.79	0.42662	D	0.993488	D	0.89917	1.0	D	0.73380	0.98	T	0.37686	-0.9695	10	0.87932	D	0	.	19.6098	0.95600	0.0:1.0:0.0:0.0	.	497	Q711Q0-3	.	H	497	ENSP00000318713:P497H;ENSP00000363259:P497H	ENSP00000318713:P497H	P	+	2	0	C10orf71	50202086	0.811000	0.29063	0.995000	0.50966	0.996000	0.88848	5.545000	0.67237	2.629000	0.89072	0.650000	0.86243	CCT		PASS	0.517	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		15	25	15	25	---	---	---	---
UNC5B	219699	broad.mit.edu	37	10	73047494	73047494	+	Silent	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:73047494G>A	ENST00000335350.6	+	6	1289	c.873G>A	c.(871-873)caG>caA	p.Q291Q	UNC5B_ENST00000373192.4_Silent_p.Q291Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	291	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.Q291Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGGCATTCCAGAAGACCGCCT	0.657																																						uc001jro.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(871-873)CAG>CAA		unc-5 homolog B precursor							64.0	61.0	62.0					10																	73047494		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047494G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.873G>A	10.37:g.73047494G>A						UNC5B_uc001jrp.2_Silent_p.Q291Q	p.Q291Q	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			6	1318	+			291			TSP type-1 1.|Extracellular (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.873G>A	CCDS7309.1																																																																																				PASS	0.657	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		14	28	14	28	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115973781	115973781	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:115973781G>T	ENST00000369280.1	+	16	2580	c.2120G>T	c.(2119-2121)tGg>tTg	p.W707L	TDRD1_ENST00000369282.1_Missense_Mutation_p.W707L|TDRD1_ENST00000422662.1_Missense_Mutation_p.W311L|TDRD1_ENST00000251864.2_Missense_Mutation_p.W707L|TDRD1_ENST00000369281.2_Missense_Mutation_p.W650L			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	707					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.W707L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAGTGGACATGGGTTGAACTT	0.408																																						uc001lbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2119-2121)TGG>TTG		tudor domain containing 1							270.0	245.0	254.0					10																	115973781		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115973781G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2120G>T	10.37:g.115973781G>T	ENSP00000358286:p.Trp707Leu					TDRD1_uc001lbf.2_Missense_Mutation_p.W641L|TDRD1_uc001lbh.1_Missense_Mutation_p.W698L|TDRD1_uc001lbi.1_Missense_Mutation_p.W698L|TDRD1_uc010qsc.1_Missense_Mutation_p.W311L|TDRD1_uc001lbj.2_Missense_Mutation_p.W416L	p.W707L	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	16	2273	+		Colorectal(252;0.172)|Breast(234;0.188)	707					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2120G>T		.	.	.	.	.	.	.	.	.	.	G	14.37	2.514843	0.44763	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.19394	3.13;3.11;2.15;2.57;3.13	5.47	4.56	0.56223	.	0.342835	0.31949	N	0.006808	T	0.38878	0.1057	M	0.73962	2.25	0.38786	D	0.954888	D;D;D;D;D	0.76494	0.97;0.965;0.996;0.99;0.999	P;P;P;P;D	0.71414	0.798;0.573;0.905;0.795;0.973	T	0.30387	-0.9980	10	0.09338	T	0.73	-8.5725	11.0331	0.47785	0.0853:0.0:0.9147:0.0	.	311;707;650;707;650	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	L	707;707;650;311;707	ENSP00000358288:W707L;ENSP00000251864:W707L;ENSP00000358287:W650L;ENSP00000402794:W311L;ENSP00000358286:W707L	ENSP00000251864:W707L	W	+	2	0	TDRD1	115963771	1.000000	0.71417	0.996000	0.52242	0.362000	0.29581	2.548000	0.45794	2.551000	0.86045	0.563000	0.77884	TGG		PASS	0.408	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			23	37	23	37	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135095751	135095751	+	Silent	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:135095751C>A	ENST00000252936.3	-	15	2424	c.2385G>T	c.(2383-2385)cgG>cgT	p.R795R	TUBGCP2_ENST00000417178.2_Silent_p.R665R|TUBGCP2_ENST00000368562.1_Silent_p.R388R|TUBGCP2_ENST00000543663.1_Silent_p.R823R|TUBGCP2_ENST00000368563.2_Silent_p.R795R			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	795					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.R795R(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)		CCTTCCGGGCCCGCTCCTCGG	0.667																																						uc001lmg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2383-2385)CGG>CGT		tubulin, gamma complex associated protein 2							21.0	25.0	24.0					10																	135095751		2202	4297	6499	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135095751C>A	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.2385G>T	10.37:g.135095751C>A						TUBGCP2_uc001lmf.1_Silent_p.R388R|TUBGCP2_uc010qvc.1_Silent_p.R823R|TUBGCP2_uc009ybk.1_Silent_p.R818R|TUBGCP2_uc010qvd.1_Silent_p.R665R|TUBGCP2_uc001lmh.1_RNA	p.R795R	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)	16	2742	-		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)	795					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.2385G>T	CCDS7676.1																																																																																				PASS	0.667	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			9	9	9	9	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4869932	4869932	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:4869932G>C	ENST00000322101.2	-	1	582	c.507C>G	c.(505-507)ttC>ttG	p.F169L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F169L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAGCAGGAATGGCAGGG	0.552																																						uc010qyo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(505-507)TTC>TTG		olfactory receptor, family 51, subfamily S,							107.0	109.0	108.0					11																	4869932		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869932G>C	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.507C>G	11.37:g.4869932G>C	ENSP00000322754:p.Phe169Leu						p.F169L	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	507	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	169			Extracellular (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.507C>G	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069396	0.20147	.	.	ENSG00000176922	ENST00000322101	T	0.70282	-0.47	5.25	-2.84	0.05751	GPCR, rhodopsin-like superfamily (1);	0.142242	0.32328	N	0.006245	T	0.47507	0.1449	L	0.33137	0.985	0.09310	N	0.999996	B	0.18013	0.025	B	0.19666	0.026	T	0.21965	-1.0230	10	0.17832	T	0.49	-17.4759	3.7599	0.08601	0.3631:0.1011:0.4331:0.1026	.	169	Q8NGJ8	O51S1_HUMAN	L	169	ENSP00000322754:F169L	ENSP00000322754:F169L	F	-	3	2	OR51S1	4826508	0.000000	0.05858	0.828000	0.32881	0.584000	0.36387	-1.166000	0.03129	-0.366000	0.08064	-1.888000	0.00539	TTC		PASS	0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		21	76	21	76	---	---	---	---
CSRP3	8048	broad.mit.edu	37	11	19207795	19207795	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:19207795A>T	ENST00000533783.1	-	5	622	c.382T>A	c.(382-384)Tat>Aat	p.Y128N	CSRP3_ENST00000265968.3_Missense_Mutation_p.Y128N	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	128	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)	p.Y128N(1)		kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						TCAGCAGCATAGACTGACTTG	0.527																																						uc001mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)TAT>AAT		cysteine and glycine-rich protein 3							160.0	132.0	142.0					11																	19207795		2199	4293	6492	SO:0001583	missense	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19207795A>T	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.382T>A	11.37:g.19207795A>T	ENSP00000431813:p.Tyr128Asn						p.Y128N	NM_003476	NP_003467	P50461	CSRP3_HUMAN			4	499	-			128			LIM zinc-binding 2.		Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	c.382T>A	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876573	0.91664	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	D;D	0.90844	-2.74;-2.74	5.85	5.85	0.93711	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	H	0.95187	3.635	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97903	1.0304	10	0.87932	D	0	-7.0946	15.897	0.79341	1.0:0.0:0.0:0.0	.	128	P50461	CSRP3_HUMAN	N	128	ENSP00000265968:Y128N;ENSP00000431813:Y128N	ENSP00000265968:Y128N	Y	-	1	0	CSRP3	19164371	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.270000	0.95690	2.238000	0.73509	0.533000	0.62120	TAT		PASS	0.527	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		9	56	9	56	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46893077	46893077	+	Splice_Site	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:46893077T>C	ENST00000378623.1	-	31	4933	c.4691A>G	c.(4690-4692)cAg>cGg	p.Q1564R	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1564					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.Q1564R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCCAGTACCTGTGTGAGGGC	0.542																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(4690-4692)CAG>CGG		low density lipoprotein receptor-related protein							99.0	81.0	87.0					11																	46893077		2201	4299	6500	SO:0001630	splice_region_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46893077T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4692+1A>G	11.37:g.46893077T>C						uc001ndl.2_Intron	p.Q1564R	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	31	4837	-			1564			Extracellular (Potential).|LDL-receptor class B 19.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4691A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	.	19.57	3.852909	0.71719	.	.	ENSG00000134569	ENST00000378623	D	0.90955	-2.76	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	M	0.72353	2.195	0.58432	D	0.999997	B	0.15141	0.012	B	0.19391	0.025	D	0.87589	0.2489	10	0.72032	D	0.01	.	15.8282	0.78730	0.0:0.0:0.0:1.0	.	1564	O75096	LRP4_HUMAN	R	1564	ENSP00000367888:Q1564R	ENSP00000367888:Q1564R	Q	-	2	0	LRP4	46849653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	2.210000	0.71456	0.533000	0.62120	CAG		PASS	0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	Missense_Mutation	3	13	3	13	---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59828788	59828788	+	Splice_Site	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:59828788G>A	ENST00000278865.3	+	2	228	c.155G>A	c.(154-156)gGg>gAg	p.G52E	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Splice_Site_p.G52E|MS4A3_ENST00000534744.1_Splice_Site_p.G52E|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	52						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G52E(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAAGTTCTTGGGGTAAGTCAG	0.428																																						uc001nom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(154-156)GGG>GAG		membrane-spanning 4-domains, subfamily A, member							100.0	96.0	97.0					11																	59828788		2201	4295	6496	SO:0001630	splice_region_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828788G>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.156+1G>A	11.37:g.59828788G>A						MS4A3_uc001non.2_Missense_Mutation_p.G52E|MS4A3_uc001noo.2_Intron	p.G52E	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			2	283	+		all_epithelial(135;0.245)	52			Helical; (Potential).		A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.155G>A	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935008	0.52866	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.33438	1.41;2.9;1.41	4.21	4.21	0.49690	.	0.114742	0.64402	D	0.000012	T	0.59609	0.2206	M	0.88310	2.945	0.21950	N	0.999455	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55835	-0.8078	10	0.87932	D	0	-12.0156	12.2241	0.54451	0.0:0.0:1.0:0.0	.	52;52	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	E	52	ENSP00000350872:G52E;ENSP00000278865:G52E;ENSP00000434117:G52E	ENSP00000278865:G52E	G	+	2	0	MS4A3	59585364	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	3.470000	0.53100	2.306000	0.77630	0.563000	0.77884	GGG		PASS	0.428	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1		Missense_Mutation	17	68	17	68	---	---	---	---
MS4A4A	51338	broad.mit.edu	37	11	60059779	60059779	+	Silent	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:60059779A>T	ENST00000337908.4	+	2	213	c.123A>T	c.(121-123)ggA>ggT	p.G41G	MS4A4A_ENST00000395016.3_Silent_p.G22G|MS4A4A_ENST00000355131.3_Silent_p.G22G|MS4A4A_ENST00000532114.1_Silent_p.G41G	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	41						integral component of membrane (GO:0016021)		p.G41G(1)|p.G22G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCCAGCTGGGAAACATGGCTG	0.488																																						uc001noz.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(121-123)GGA>GGT		membrane-spanning 4-domains, subfamily A, member							73.0	72.0	73.0					11																	60059779		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60059779A>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.123A>T	11.37:g.60059779A>T						MS4A4A_uc001npa.2_Silent_p.G22G|MS4A4A_uc001npb.2_Silent_p.G22G|MS4A4A_uc001npc.2_Silent_p.G22G	p.G41G	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			2	133	+			41			Cytoplasmic (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.123A>T	CCDS7982.1																																																																																				PASS	0.488	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			10	37	10	37	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183397	60183397	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:60183397A>G	ENST00000300187.6	+	5	1233	c.956A>G	c.(955-957)gAc>gGc	p.D319G	MS4A14_ENST00000531787.1_Missense_Mutation_p.D207G|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.D302G|MS4A14_ENST00000531783.1_Missense_Mutation_p.D352G	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	319						integral component of membrane (GO:0016021)		p.D319G(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCACCTGAAGACTTGCCATCC	0.453																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(955-957)GAC>GGC		membrane-spanning 4-domains, subfamily A, member							97.0	89.0	92.0					11																	60183397		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183397A>G	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.956A>G	11.37:g.60183397A>G	ENSP00000300187:p.Asp319Gly					MS4A14_uc001npi.2_Missense_Mutation_p.D207G|MS4A14_uc001npn.2_Missense_Mutation_p.D57G|MS4A14_uc001npk.2_Missense_Mutation_p.D302G|MS4A14_uc001npl.2_Missense_Mutation_p.D57G|MS4A14_uc001npm.2_Missense_Mutation_p.D57G	p.D319G	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1521	+			319					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.956A>G	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.643324	0.29246	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.31769	1.49;2.72;1.48;3.07	3.83	1.39	0.22231	.	7.525800	0.00166	N	0.000000	T	0.22975	0.0555	L	0.29908	0.895	0.09310	N	1	B;B	0.27013	0.166;0.104	B;B	0.27796	0.083;0.038	T	0.12578	-1.0542	10	0.30078	T	0.28	-0.5814	3.2441	0.06791	0.6856:0.0:0.1123:0.2022	.	302;319	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	G	207;319;302;352	ENSP00000437222:D207G;ENSP00000300187:D319G;ENSP00000378453:D302G;ENSP00000433761:D352G	ENSP00000300187:D319G	D	+	2	0	MS4A14	59939973	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.984000	0.03755	0.265000	0.21872	0.528000	0.53228	GAC		PASS	0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			13	64	13	64	---	---	---	---
CAPN1	823	broad.mit.edu	37	11	64977857	64977857	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:64977857G>A	ENST00000527323.1	+	19	2233	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	CAPN1_ENST00000533129.1_Missense_Mutation_p.E665K|CAPN1_ENST00000533820.1_Missense_Mutation_p.E665K|CAPN1_ENST00000279247.6_Missense_Mutation_p.E665K|CAPN1_ENST00000524773.1_Missense_Mutation_p.E665K			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	665	Domain IV.				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.E665K(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)		CCGCTACTCGGAGCCCGACCT	0.592																																						uc009yqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1993-1995)GAG>AAG		calpain 1, large subunit							54.0	57.0	56.0					11																	64977857		2010	4184	6194	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.chr11:64977857G>A	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.1993G>A	11.37:g.64977857G>A	ENSP00000431984:p.Glu665Lys					CAPN1_uc001odf.1_Missense_Mutation_p.E665K|CAPN1_uc001odg.1_Missense_Mutation_p.E665K|CAPN1_uc010roa.1_Missense_Mutation_p.E406K	p.E665K	NM_005186	NP_005177	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	20	2104	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	665			Domain IV.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1993G>A	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147552	0.77888	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.21	4.21	0.49690	EF-hand-like domain (1);	0.111217	0.64402	D	0.000012	T	0.29256	0.0728	L	0.43152	1.355	0.80722	D	1	B	0.26744	0.158	B	0.28553	0.091	T	0.19160	-1.0314	10	0.72032	D	0.01	.	14.4548	0.67409	0.0:0.0:1.0:0.0	.	665	P07384	CAN1_HUMAN	K	665;665;665;665;611;665	ENSP00000435272:E665K;ENSP00000431686:E665K;ENSP00000434176:E665K;ENSP00000279247:E665K;ENSP00000431984:E665K	ENSP00000259755:E611K	E	+	1	0	CAPN1	64734433	1.000000	0.71417	0.985000	0.45067	0.872000	0.50106	9.424000	0.97464	2.092000	0.63282	0.563000	0.77884	GAG		PASS	0.592	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			3	15	3	15	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78380075	78380075	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:78380075G>T	ENST00000278550.7	-	32	7777	c.7315C>A	c.(7315-7317)Ctt>Att	p.L2439I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2439					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.L2439I(2)									CTGCTACTAAGGTGCTTCCAC	0.507																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(7315-7317)CTT>ATT		odz, odd Oz/ten-m homolog 4							126.0	126.0	126.0					11																	78380075		2061	4186	6247	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380075G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7315C>A	11.37:g.78380075G>T	ENSP00000278550:p.Leu2439Ile					ODZ4_uc001ozk.3_Missense_Mutation_p.L664I|ODZ4_uc009yvb.1_Missense_Mutation_p.L1023I	p.L2439I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	7778	-			2439			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7315C>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016466	0.35606	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89681	-2.55;0.81	5.14	4.21	0.49690	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	N	0.16862	0.45	0.47037	D	0.999298	D	0.69078	0.997	D	0.72625	0.978	D	0.84866	0.0822	9	.	.	.	.	10.5246	0.44941	0.1475:0.0:0.8525:0.0	.	2439	Q6N022	TEN4_HUMAN	I	2439;903	ENSP00000278550:L2439I;ENSP00000431711:L903I	.	L	-	1	0	ODZ4	78057723	1.000000	0.71417	0.938000	0.37757	0.951000	0.60555	4.691000	0.61738	2.677000	0.91161	0.655000	0.94253	CTT		PASS	0.507	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			10	40	10	40	---	---	---	---
CASP1	834	broad.mit.edu	37	11	104899950	104899950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr11:104899950C>A	ENST00000533400.1	-	7	942	c.907G>T	c.(907-909)Gga>Tga	p.G303*	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000436863.3_Nonsense_Mutation_p.G303*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.G266*|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Nonsense_Mutation_p.G282*|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000526568.1_Nonsense_Mutation_p.G210*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.G282*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.G303*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.G282*|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Nonsense_Mutation_p.G264*	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	303					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.G303*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GATAGGTTTCCAGAAACTCCT	0.418																																					NSCLC(41;1246 1743 4934)	uc010rve.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(907-909)GGA>TGA		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						82.0	75.0	77.0					11																	104899950		2202	4299	6501	SO:0001587	stop_gained	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899950C>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.907G>T	11.37:g.104899950C>A	ENSP00000433138:p.Gly303*					CASP1_uc001pig.2_Nonsense_Mutation_p.G210*|CASP1_uc001pik.2_Nonsense_Mutation_p.G266*|CASP1_uc010rvf.1_Nonsense_Mutation_p.G210*|CASP1_uc010rvg.1_Nonsense_Mutation_p.G282*|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Nonsense_Mutation_p.G303*|CASP1_uc009yxi.2_Nonsense_Mutation_p.G282*|CASP1_uc010rvj.1_Nonsense_Mutation_p.G303*|CASP1_uc009yxj.2_Nonsense_Mutation_p.G148*|CASP1_uc010rvk.1_Nonsense_Mutation_p.G264*	p.G303*	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	7	924	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	303					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	ENST00000533400.1	37	c.907G>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	18.51	3.638623	0.67130	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	.	.	.	4.48	-2.63	0.06133	.	1.989060	0.02590	N	0.099836	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	3.8078	0.08785	0.1158:0.5329:0.114:0.2372	.	.	.	.	X	152;210;266;303;303;282;282;264	.	ENSP00000376844:G282X	G	-	1	0	CASP1	104405160	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.382000	0.07408	-0.248000	0.09583	-1.350000	0.01237	GGA		PASS	0.418	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		7	23	7	23	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7527242	7527242	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:7527242C>T	ENST00000313599.3	-	13	3262	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1079N|CD163L1_ENST00000396630.1_Missense_Mutation_p.D1069N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1069	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D1069N(1)|p.D1069fs*27(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACGTGGGCATCGCTCAGGTCC	0.617											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qsy.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.D1069fs*27(1)	ovary(1)|lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3205-3207)GAT>AAT		scavenger receptor cysteine-rich type 1							74.0	66.0	68.0					12																	7527242		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527242C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3205G>A	12.37:g.7527242C>T	ENSP00000315945:p.Asp1069Asn		OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	CD163L1_uc010sge.1_Missense_Mutation_p.D1079N	p.D1069N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			13	3231	-			1069			SRCR 10.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3205G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564316	0.65651	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36878	1.23;1.23;1.23	2.52	2.52	0.30459	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.51477	U	0.000099	T	0.60676	0.2287	M	0.86573	2.825	0.34141	D	0.666409	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.74290	-0.3713	10	0.54805	T	0.06	.	11.1201	0.48284	0.0:1.0:0.0:0.0	.	1079;1069	E7EVK4;Q9NR16	.;C163B_HUMAN	N	1069;1079;1069	ENSP00000315945:D1069N;ENSP00000393474:D1079N;ENSP00000379871:D1069N	ENSP00000315945:D1069N	D	-	1	0	CD163L1	7418509	1.000000	0.71417	0.965000	0.40720	0.446000	0.32137	5.561000	0.67339	1.694000	0.51137	0.462000	0.41574	GAT		PASS	0.617	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		16	47	16	47	---	---	---	---
KLRG1	10219	broad.mit.edu	37	12	9147764	9147764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:9147764G>A	ENST00000266551.4	+	3	252	c.237G>A	c.(235-237)tgG>tgA	p.W79*	RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000538029.1_Intron|KLRG1_ENST00000356986.3_Nonsense_Mutation_p.W79*	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	79					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.W79*(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CAGACCGCTGGATGAAATATG	0.483																																						uc001qvh.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(235-237)TGG>TGA		killer cell lectin-like receptor subfamily G,							83.0	79.0	80.0					12																	9147764		2203	4300	6503	SO:0001587	stop_gained	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9147764G>A	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.237G>A	12.37:g.9147764G>A	ENSP00000266551:p.Trp79*					KLRG1_uc001qvg.2_Nonsense_Mutation_p.W79*	p.W79*	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN			3	248	+			79			Extracellular (Potential).		B7ZAM2|O43198|O75613	Nonsense_Mutation	SNP	ENST00000266551.4	37	c.237G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.300551	0.81136	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	.	.	.	3.68	3.68	0.42216	.	0.000000	0.41194	D	0.000921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2123	0.48806	0.0:0.0:1.0:0.0	.	.	.	.	X	79	.	ENSP00000266551:W79X	W	+	3	0	KLRG1	9039031	0.990000	0.36364	0.937000	0.37676	0.974000	0.67602	2.600000	0.46240	2.338000	0.79540	0.650000	0.86243	TGG		PASS	0.483	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		5	39	5	39	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546519	11546519	+	Missense_Mutation	SNP	G	G	C	rs535050686	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:11546519G>C	ENST00000389362.4	-	3	528	c.493C>G	c.(493-495)Caa>Gaa	p.Q165E	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	165	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.Q144E(1)|p.Q165E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTCTCCTTGTGGGGGTGGT	0.607																																						uc010shk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(493-495)CAA>GAA		proline-rich protein BstNI subfamily 2							248.0	221.0	230.0					12																	11546519		2195	4294	6489	SO:0001583	missense	653247							g.chr12:11546519G>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.493C>G	12.37:g.11546519G>C	ENSP00000374013:p.Gln165Glu						p.Q165E	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	528	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.493C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	2.269	-0.367424	0.05069	.	.	ENSG00000121335	ENST00000389362	T	0.06068	3.35	1.71	1.71	0.24356	.	1.027890	0.07926	N	0.976800	T	0.06188	0.0160	M	0.63843	1.955	0.09310	N	1	P	0.39424	0.673	B	0.28916	0.096	T	0.30650	-0.9971	10	0.07482	T	0.82	.	9.4945	0.38980	0.0:0.0:1.0:0.0	.	165	P02812	PRB2_HUMAN	E	165	ENSP00000374013:Q165E	ENSP00000374013:Q165E	Q	-	1	0	PRB2	11437786	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.193000	0.09573	0.882000	0.36016	0.418000	0.28097	CAA		PASS	0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		27	261	27	261	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15654796	15654796	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:15654796A>C	ENST00000281171.4	+	5	1234	c.904A>C	c.(904-906)Agt>Cgt	p.S302R	PTPRO_ENST00000543886.1_Missense_Mutation_p.S302R|PTPRO_ENST00000348962.2_Missense_Mutation_p.S302R	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	302	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.S302R(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTGGTGGGACAGTGCATCTGC	0.443																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(904-906)AGT>CGT		receptor-type protein tyrosine phosphatase O							68.0	60.0	63.0					12																	15654796		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654796A>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.904A>C	12.37:g.15654796A>C	ENSP00000281171:p.Ser302Arg					PTPRO_uc001rcw.1_Missense_Mutation_p.S302R|PTPRO_uc001rcu.1_Missense_Mutation_p.S302R	p.S302R	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			5	1078	+		Hepatocellular(102;0.244)	302			Fibronectin type-III 3.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.904A>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561482	0.45590	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03801	3.8;3.8	4.53	3.38	0.38709	.	0.255216	0.27522	N	0.018996	T	0.03739	0.0106	N	0.19112	0.55	0.80722	D	1	B;B;P	0.44877	0.302;0.201;0.845	B;B;B	0.41135	0.157;0.075;0.348	T	0.59032	-0.7530	10	0.26408	T	0.33	.	10.1737	0.42927	0.9211:0.0:0.0789:0.0	.	302;302;302	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	R	302	ENSP00000281171:S302R;ENSP00000343434:S302R	ENSP00000281171:S302R	S	+	1	0	PTPRO	15546063	0.977000	0.34250	1.000000	0.80357	0.985000	0.73830	2.537000	0.45702	0.764000	0.33197	-0.264000	0.10439	AGT		PASS	0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			7	25	7	25	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21242966	21242966	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:21242966C>A	ENST00000421593.2	+	13	1849	c.1849C>A	c.(1849-1851)Caa>Aaa	p.Q617K	LST3_ENST00000540229.1_Missense_Mutation_p.Q725K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.Q725K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.Q664K|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.Q664K	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	617						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Q617K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAATGAAAGACAAGTAATGGA	0.313																																						uc010sil.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2173-2175)CAA>AAA		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							49.0	53.0	52.0					12																	21242966		2072	4239	6311	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21242966C>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1849C>A	12.37:g.21242966C>A	ENSP00000394168:p.Gln617Lys					LST-3TM12_uc010sim.1_Missense_Mutation_p.Q664K|LST-3TM12_uc010sin.1_Missense_Mutation_p.Q617K	p.Q725K			Q9NPD5	SO1B3_HUMAN			16	2238	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2173C>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.245766	0.00271	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.35048	1.42;1.37;1.42;1.37;1.33	2.57	-4.61	0.03380	.	1.568210	0.03553	N	0.225789	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.0	T	0.28776	-1.0033	10	0.02654	T	1	.	5.8109	0.18465	0.2921:0.5386:0.0:0.1693	.	617;664;725	G3V0H7;F5H094;Q5JAR4	.;.;.	K	725;664;725;664;617	ENSP00000451758:Q725K;ENSP00000370952:Q664K;ENSP00000441269:Q725K;ENSP00000452013:Q664K;ENSP00000394168:Q617K	ENSP00000370952:Q664K	Q	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134233	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	0.298000	0.19120	-0.962000	0.03604	-1.365000	0.01206	CAA		PASS	0.313	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		8	28	8	28	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48535133	48535133	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:48535133G>C	ENST00000312352.7	+	15	1420	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	PFKM_ENST00000359794.5_Missense_Mutation_p.G461R|PFKM_ENST00000340802.6_Missense_Mutation_p.G532R|PFKM_ENST00000551804.1_Missense_Mutation_p.G430R|PFKM_ENST00000547587.1_Missense_Mutation_p.G461R|PFKM_ENST00000395233.2_Missense_Mutation_p.G430R	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	461	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.G461R(1)|p.G532R(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGCTGGACTGGCCAAGGTGG	0.537																																						uc001rrc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(1381-1383)GGC>CGC		phosphofructokinase, muscle							100.0	94.0	96.0					12																	48535133		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48535133G>C	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1381G>C	12.37:g.48535133G>C	ENSP00000309438:p.Gly461Arg					PFKM_uc001rra.1_Missense_Mutation_p.G146R|PFKM_uc001rrb.1_Missense_Mutation_p.G532R|PFKM_uc001rrd.2_Missense_Mutation_p.G146R|PFKM_uc001rre.1_Missense_Mutation_p.G461R|PFKM_uc001rrg.1_Missense_Mutation_p.G430R	p.G461R	NM_000289	NP_000280	P08237	K6PF_HUMAN			15	1551	+			461					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1381G>C	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356634	0.95854	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.1	5.1	0.69264	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.963	D;D;P	0.91635	0.997;0.999;0.524	D	0.89850	0.4009	10	0.54805	T	0.06	-20.1405	18.677	0.91532	0.0:0.0:1.0:0.0	.	430;461;532	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	R	532;461;430;430;461;461;76	ENSP00000345771:G532R;ENSP00000352842:G461R;ENSP00000378656:G430R;ENSP00000448177:G430R;ENSP00000449426:G461R;ENSP00000309438:G461R;ENSP00000446519:G76R	ENSP00000309438:G461R	G	+	1	0	PFKM	46821400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.825000	0.97269	0.655000	0.94253	GGC		PASS	0.537	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		20	60	20	60	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50186238	50186238	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:50186238C>G	ENST00000335999.6	-	12	3984	c.3783G>C	c.(3781-3783)agG>agC	p.R1261S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1257	Pro-rich.							p.R1261S(1)|p.R852S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCATGGGGGTCCTGGGCAGCC	0.612																																						uc009zlk.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3781-3783)AGG>AGC		NCK-associated protein 5-like							29.0	33.0	32.0					12																	50186238		1940	4134	6074	SO:0001583	missense	57701							g.chr12:50186238C>G	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3783G>C	12.37:g.50186238C>G	ENSP00000337998:p.Arg1261Ser					NCKAP5L_uc001rvc.3_Missense_Mutation_p.R465S|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R854S	p.R1261S	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			12	3985	-			1257			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.3783G>C	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.881727|1.881727	0.33255|0.33255	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|T	.|0.42131	.|0.98	5.06|5.06	2.21|2.21	0.28008|0.28008	.|.	.|0.126578	.|0.36628	.|N	.|0.002493	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.25647|0.25647	0.755|0.755	0.34067|0.34067	D|D	0.658017|0.658017	.|B;B;B	.|0.25312	.|0.055;0.123;0.047	.|B;B;B	.|0.18871	.|0.023;0.023;0.022	T|T	0.12192|0.12192	-1.0557|-1.0557	5|10	.|0.25106	.|T	.|0.35	-24.7963|-24.7963	1.8846|1.8846	0.03235|0.03235	0.1384:0.4873:0.1349:0.2394|0.1384:0.4873:0.1349:0.2394	.|.	.|1235;1257;1257	.|E2QRB5;Q9HCH0;Q9HCH0-2	.|.;NCK5L_HUMAN;.	H|S	976|1261;1235	.|ENSP00000337998:R1261S	.|ENSP00000337998:R1261S	D|R	-|-	1|3	0|2	NCKAP5L|NCKAP5L	48472505|48472505	0.056000|0.056000	0.20664|0.20664	0.998000|0.998000	0.56505|0.56505	0.894000|0.894000	0.52154|0.52154	0.039000|0.039000	0.13884|0.13884	0.263000|0.263000	0.21812|0.21812	-0.339000|-0.339000	0.08088|0.08088	GAC|AGG		PASS	0.612	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	15	4	15	---	---	---	---
SUOX	6821	broad.mit.edu	37	12	56397818	56397818	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:56397818C>T	ENST00000394109.3	+	3	1369	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SUOX_ENST00000394115.2_Silent_p.F215F|SUOX_ENST00000356124.4_Silent_p.F215F|SUOX_ENST00000548274.1_Silent_p.F215F|SUOX_ENST00000266971.3_Silent_p.F215F|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	215	Moco domain. {ECO:0000250}.|Molybdopterin-binding. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.F215F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTATCTTCTTCACCCGGAACC	0.552																																						uc001six.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(643-645)TTC>TTT		sulfite oxidase precursor							119.0	110.0	113.0					12																	56397818		2203	4300	6503	SO:0001819	synonymous_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397818C>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.645C>T	12.37:g.56397818C>T						SUOX_uc001siy.2_Silent_p.F215F|SUOX_uc001siz.2_Silent_p.F215F|SUOX_uc001sja.2_Silent_p.F215F	p.F215F	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	971	+			215			Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).			Silent	SNP	ENST00000394109.3	37	c.645C>T	CCDS8901.2																																																																																				PASS	0.552	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		17	69	17	69	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56722284	56722284	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:56722284G>A	ENST00000425394.2	-	3	800	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	PAN2_ENST00000440411.3_Missense_Mutation_p.R142C|PAN2_ENST00000257931.5_Missense_Mutation_p.R142C|PAN2_ENST00000548043.1_Missense_Mutation_p.R142C	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.R142C(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGGCCCCCACGGGCCATATAC	0.488																																						uc001skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(424-426)CGT>TGT		PAN2 polyA specific ribonuclease subunit homolog							86.0	89.0	88.0					12																	56722284		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722284G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.424C>T	12.37:g.56722284G>A	ENSP00000401721:p.Arg142Cys					PAN2_uc001skz.2_Missense_Mutation_p.R142C|PAN2_uc001sky.2_Missense_Mutation_p.R142C	p.R142C	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			3	797	-			142						Missense_Mutation	SNP	ENST00000425394.2	37	c.424C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639023	0.87760	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.48	5.08	5.08	0.68730	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85818	0.5785	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.86992	0.2111	10	0.87932	D	0	-13.5718	13.3418	0.60549	0.0:0.0:0.8415:0.1585	.	142;142;142	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	C	142;142;142;142;3	ENSP00000401721:R142C;ENSP00000388231:R142C;ENSP00000257931:R142C;ENSP00000449861:R142C;ENSP00000449092:R3C	ENSP00000257931:R142C	R	-	1	0	PAN2	55008551	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.349000	0.59385	2.808000	0.96608	0.655000	0.94253	CGT		PASS	0.488	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		26	83	26	83	---	---	---	---
CRADD	8738	broad.mit.edu	37	12	94072576	94072576	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:94072576T>A	ENST00000542893.2	+	2	344	c.26T>A	c.(25-27)cTc>cAc	p.L9H	CRADD_ENST00000332896.3_Missense_Mutation_p.L9H|CRADD_ENST00000552033.1_Missense_Mutation_p.L9H|CRADD_ENST00000541813.1_Missense_Mutation_p.L9H|CRADD_ENST00000552983.1_Missense_Mutation_p.L9H|CRADD_ENST00000548483.1_Missense_Mutation_p.L9H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	9	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)	p.L9H(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						AAACAAGTACTCCGCTCACTT	0.488																																						uc001tda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)CTC>CAC		CASP2 and RIPK1 domain containing adaptor with							69.0	65.0	67.0					12																	94072576		2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94072576T>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.26T>A	12.37:g.94072576T>A	ENSP00000439068:p.Leu9His					CRADD_uc010sur.1_Missense_Mutation_p.L9H|CRADD_uc010sus.1_RNA	p.L9H	NM_003805	NP_003796	P78560	CRADD_HUMAN			2	130	+			9			CARD.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.26T>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290060	0.80914	.	.	ENSG00000169372	ENST00000552983;ENST00000332896;ENST00000552033;ENST00000548483;ENST00000542893;ENST00000541813	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.19	5.19	0.71726	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76013	-0.3114	10	0.87932	D	0	-2.5819	15.0405	0.71788	0.0:0.0:0.0:1.0	.	9;9	F5H7C2;P78560	.;CRADD_HUMAN	H	9	ENSP00000449570:L9H;ENSP00000327647:L9H;ENSP00000449664:L9H;ENSP00000448685:L9H;ENSP00000439068:L9H;ENSP00000442624:L9H	ENSP00000327647:L9H	L	+	2	0	CRADD	92596707	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.150000	0.77403	1.947000	0.56498	0.533000	0.62120	CTC		PASS	0.488	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		17	34	17	34	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99061383	99061383	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:99061383C>G	ENST00000551964.1	+	10	2191	c.1455C>G	c.(1453-1455)aaC>aaG	p.N485K	APAF1_ENST00000357310.1_Missense_Mutation_p.N485K|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.N485K|APAF1_ENST00000339433.3_Missense_Mutation_p.N485K|APAF1_ENST00000359972.2_Missense_Mutation_p.N474K|APAF1_ENST00000550527.1_Missense_Mutation_p.N474K|APAF1_ENST00000547045.1_Missense_Mutation_p.N485K	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	485					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.N485K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATTGGTACAACTTTCTGGCCT	0.393																																						uc001tfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1453-1455)AAC>AAG		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						127.0	116.0	120.0					12																	99061383		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99061383C>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1455C>G	12.37:g.99061383C>G	ENSP00000448165:p.Asn485Lys					APAF1_uc001tfy.2_Missense_Mutation_p.N474K|APAF1_uc001tga.2_Missense_Mutation_p.N474K|APAF1_uc001tgb.2_Missense_Mutation_p.N485K|APAF1_uc001tgc.2_Intron	p.N485K	NM_181861	NP_863651	O14727	APAF_HUMAN			10	2032	+			485					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.1455C>G	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760953	0.49468	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.59224	0.28;0.41;0.37;0.48;0.28;0.37;0.48	5.34	2.28	0.28536	.	0.275088	0.43919	D	0.000515	T	0.37210	0.0995	N	0.19112	0.55	0.80722	D	1	P;P;B;P	0.47302	0.581;0.581;0.445;0.893	B;B;B;B	0.42188	0.318;0.318;0.264;0.379	T	0.08207	-1.0733	10	0.13853	T	0.58	-3.4929	8.9481	0.35771	0.0:0.4629:0.0:0.5371	.	485;474;485;474	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	K	485;474;485;485;474;485;485	ENSP00000448165:N485K;ENSP00000353059:N474K;ENSP00000349862:N485K;ENSP00000341830:N485K;ENSP00000448449:N474K;ENSP00000449791:N485K;ENSP00000448161:N485K	ENSP00000341830:N485K	N	+	3	2	APAF1	97585514	0.998000	0.40836	0.998000	0.56505	0.857000	0.48899	0.463000	0.21972	0.141000	0.18875	-0.373000	0.07131	AAC		PASS	0.393	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		16	49	16	49	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101555843	101555843	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:101555843C>G	ENST00000536262.2	-	13	2097	c.1539G>C	c.(1537-1539)atG>atC	p.M513I		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.M513I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACCAGTTATCCATCAGTGGAG	0.388																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1537-1539)ATG>ATC		solute carrier family 5 (iodide transporter),							158.0	158.0	158.0					12																	101555843		2203	4299	6502	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101555843C>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1539G>C	12.37:g.101555843C>G	ENSP00000445340:p.Met513Ile						p.M513I	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			13	1929	-			513			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1539G>C	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.922017	0.33908	.	.	ENSG00000256870	ENST00000536262	T	0.62639	0.01	5.5	4.6	0.57074	.	0.230966	0.47455	D	0.000232	T	0.48874	0.1524	L	0.47190	1.495	0.28411	N	0.918173	B	0.25955	0.138	B	0.25987	0.065	T	0.30707	-0.9969	10	0.21014	T	0.42	.	5.9323	0.19146	0.159:0.6896:0.0:0.1513	.	513	Q8N695	SC5A8_HUMAN	I	513	ENSP00000445340:M513I	ENSP00000445340:M513I	M	-	3	0	SLC5A8	100079974	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.057000	0.30492	2.596000	0.87737	0.585000	0.79938	ATG		PASS	0.388	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		27	67	27	67	---	---	---	---
C12orf43	64897	broad.mit.edu	37	12	121442168	121442168	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr12:121442168A>C	ENST00000288757.3	-	6	599	c.577T>G	c.(577-579)Ttg>Gtg	p.L193V	C12orf43_ENST00000445832.3_Missense_Mutation_p.L163V|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Missense_Mutation_p.L152V|C12orf43_ENST00000537817.1_Missense_Mutation_p.L194V|C12orf43_ENST00000539736.1_Missense_Mutation_p.L183V	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	193	Lys-rich.							p.L193V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCTTTTTCAACTTCCTTTTC	0.587																																						uc001tzh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)TTG>GTG		hypothetical protein LOC64897							149.0	167.0	161.0					12																	121442168		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121442168A>C	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.577T>G	12.37:g.121442168A>C	ENSP00000288757:p.Leu193Val					C12orf43_uc009zxa.1_Missense_Mutation_p.L224V|C12orf43_uc010szo.1_Missense_Mutation_p.L152V|C12orf43_uc010szp.1_Missense_Mutation_p.L183V|C12orf43_uc001tzi.1_Missense_Mutation_p.L194V	p.L193V	NM_022895	NP_075046	Q96C57	CL043_HUMAN			6	600	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		193			Lys-rich.		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.577T>G	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.346|3.346	-0.133619|-0.133619	0.06711|0.06711	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367|ENST00000546272	T;T;T;T;T|.	0.44881|.	0.95;0.95;0.94;0.94;0.91|.	4.8|4.8	-7.21|-7.21	0.01490|0.01490	.|.	1.793320|.	0.03195|.	N|.	0.173928|.	T|T	0.35422|0.35422	0.0931|0.0931	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	P;P;P;B;B|.	0.49559|.	0.557;0.557;0.925;0.358;0.358|.	B;B;P;B;B|.	0.49597|.	0.215;0.215;0.616;0.152;0.152|.	T|T	0.42032|0.42032	-0.9475|-0.9475	10|5	0.41790|.	T|.	0.15|.	-0.031|-0.031	9.6749|9.6749	0.40034|0.40034	0.3241:0.0:0.5293:0.1465|0.3241:0.0:0.5293:0.1465	.|.	183;152;194;183;193|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	V|R	163;193;194;152;183;131;148|146	ENSP00000409788:L163V;ENSP00000288757:L193V;ENSP00000442224:L194V;ENSP00000437803:L183V;ENSP00000442041:L131V|.	ENSP00000288757:L193V|.	L|S	-|-	1|3	2|2	C12orf43|C12orf43	119926551|119926551	0.248000|0.248000	0.23930|0.23930	0.007000|0.007000	0.13788|0.13788	0.113000|0.113000	0.19764|0.19764	0.296000|0.296000	0.19083|0.19083	-1.469000|-1.469000	0.01890|0.01890	-1.431000|-1.431000	0.01090|0.01090	TTG|AGT		PASS	0.587	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		19	50	19	50	---	---	---	---
MPHOSPH8	54737	broad.mit.edu	37	13	20224398	20224398	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr13:20224398C>T	ENST00000361479.5	+	5	1642	c.1574C>T	c.(1573-1575)tCa>tTa	p.S525L	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.S525L	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	525					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)	p.S525L(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GATGAGAATTCAGGTGAGTTT	0.398																																						uc001umh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1573-1575)TCA>TTA		M-phase phosphoprotein 8							135.0	117.0	123.0					13																	20224398		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20224398C>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1574C>T	13.37:g.20224398C>T	ENSP00000355388:p.Ser525Leu					MPHOSPH8_uc001umg.2_Missense_Mutation_p.S525L|MPHOSPH8_uc001umi.2_Missense_Mutation_p.S222L	p.S525L	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	5	1583	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	525					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1574C>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666167	0.29604	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.35973	1.28;1.28	5.66	0.813	0.18749	Ankyrin repeat-containing domain (1);	0.643920	0.15200	N	0.275091	T	0.30135	0.0755	L	0.50333	1.59	0.09310	N	1	B;B;B	0.14012	0.009;0.001;0.002	B;B;B	0.15484	0.013;0.002;0.003	T	0.21109	-1.0255	10	0.40728	T	0.16	.	9.4165	0.38525	0.0:0.549:0.329:0.122	.	525;525;525	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	L	525	ENSP00000414663:S525L;ENSP00000355388:S525L	ENSP00000355388:S525L	S	+	2	0	MPHOSPH8	19122398	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.824000	0.27379	-0.094000	0.12374	-0.283000	0.09986	TCA		PASS	0.398	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		42	56	42	56	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58299048	58299048	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr13:58299048T>A	ENST00000377918.3	+	4	3126	c.3100T>A	c.(3100-3102)Tca>Aca	p.S1034T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1034					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1034T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGGTCCCCTCAGCATCAAG	0.522																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(3100-3102)TCA>ACA		protocadherin 17 precursor							88.0	88.0	88.0					13																	58299048		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299048T>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3100T>A	13.37:g.58299048T>A	ENSP00000367151:p.Ser1034Thr					PCDH17_uc010aec.1_Missense_Mutation_p.S1033T|PCDH17_uc001vhr.1_Missense_Mutation_p.S123T	p.S1034T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3992	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1034			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3100T>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.612390	0.66672	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	L	0.43152	1.355	0.58432	D	0.999994	D	0.69078	0.997	P	0.60012	0.867	T	0.54370	-0.8304	9	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1034	O14917	PCD17_HUMAN	T	1034	ENSP00000367151:S1034T	.	S	+	1	0	PCDH17	57197049	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	TCA		PASS	0.522	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		28	49	28	49	---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79219120	79219120	+	Missense_Mutation	SNP	C	C	A	rs371472431		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr13:79219120C>A	ENST00000282003.6	-	2	143	c.85G>T	c.(85-87)Gtc>Ttc	p.V29F		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	29							zinc ion binding (GO:0008270)	p.V29F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ATGCATATGACAGGCTGACGT	0.383																																						uc001vkw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(85-87)GTC>TTC		ring finger protein 219							135.0	118.0	124.0					13																	79219120		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79219120C>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.85G>T	13.37:g.79219120C>A	ENSP00000282003:p.Val29Phe					RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.V29F	p.V29F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	2	144	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	29			RING-type; degenerate.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.85G>T	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948380	0.92593	.	.	ENSG00000152193	ENST00000282003	T	0.24908	1.83	5.66	5.66	0.87406	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48692	-0.9013	10	0.62326	D	0.03	-0.1553	19.7324	0.96188	0.0:1.0:0.0:0.0	.	29	Q5W0B1	RN219_HUMAN	F	29	ENSP00000282003:V29F	ENSP00000282003:V29F	V	-	1	0	RNF219	78117121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.540000	0.67205	2.663000	0.90544	0.655000	0.94253	GTC		PASS	0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		25	34	25	34	---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98673325	98673325	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr13:98673325G>C	ENST00000490680.1	+	25	3210	c.3145G>C	c.(3145-3147)Gag>Cag	p.E1049Q	IPO5_ENST00000261574.5_Missense_Mutation_p.E1067Q|IPO5_ENST00000539640.1_Missense_Mutation_p.E924Q			O00410	IPO5_HUMAN	importin 5	1049					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.E1067Q(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGAAATGCACGAGGCAATTAA	0.418																																						uc001vne.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(3199-3201)GAG>CAG		importin 5							140.0	142.0	141.0					13																	98673325		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98673325G>C	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.3145G>C	13.37:g.98673325G>C	ENSP00000418393:p.Glu1049Gln						p.E1067Q	NM_002271	NP_002262	O00410	IPO5_HUMAN			28	3379	+			1049					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.3199G>C		.	.	.	.	.	.	.	.	.	.	G	23.7	4.446324	0.84101	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.11712	2.75;2.76;2.76;2.75	5.6	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.16129	-1.0413	10	0.45353	T	0.12	-18.7832	14.2279	0.65873	0.0716:0.0:0.9284:0.0	.	1067	O00410-3	.	Q	1067;1049;1049;924	ENSP00000261574:E1067Q;ENSP00000350219:E1049Q;ENSP00000418393:E1049Q;ENSP00000445126:E924Q	ENSP00000261574:E1067Q	E	+	1	0	IPO5	97471326	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.817000	0.99352	1.342000	0.45619	0.655000	0.94253	GAG		PASS	0.418	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		44	124	44	124	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111099172	111099173	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr13:111099172_111099173GG>TC	ENST00000360467.5	+	18	1345_1346	c.1039_1040GG>TC	c.(1039-1041)GGa>TCa	p.G347S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	347	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G347*(1)|p.G347S(1)|p.G347A(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGCCCCCTGGACTACCTGCC	0.475																																						uc001vqx.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1039-1041)GGA>TGA|c.(1039-1041)GGA>GCA		alpha 2 type IV collagen preproprotein																																				SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111099172G>T|g.chr13:111099173G>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	Exception_encountered	13.37:g.111099172_111099173delinsTC	ENSP00000353654:p.Gly347Ser						p.G347*|p.G347A	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		18	1328|1329	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	347			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000360467.5	37	c.1039G>T|c.1040G>C	CCDS41907.1																																																																																				PASS	0.475	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		22	41	22	41	---	---	---	---
TSSK4	283629	broad.mit.edu	37	14	24676618	24676618	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:24676618A>T	ENST00000287913.6	+	3	875	c.707A>T	c.(706-708)cAt>cTt	p.H236L	CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000556621.1_Missense_Mutation_p.H160L|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.H246L|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.H236L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GTGGTCGCCCATCTGCCCTTT	0.517																																						uc001wng.2																			2	Substitution - Missense(2)		lung(2)		0						c.(706-708)CAT>CTT		testis-specific serine kinase 4							101.0	91.0	94.0					14																	24676618		2203	4300	6503	SO:0001583	missense	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24676618A>T	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.707A>T	14.37:g.24676618A>T	ENSP00000287913:p.His236Leu					TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Missense_Mutation_p.H160L|TSSK4_uc001wnf.2_Missense_Mutation_p.H166L|TSSK4_uc001wnh.2_Missense_Mutation_p.H246L	p.H236L	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	875	+			236			Protein kinase.		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	c.707A>T	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.800|5.800	0.331998|0.331998	0.10956|0.10956	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913|ENST00000553766	T;T;T|.	0.64991|.	-0.13;-0.13;-0.13|.	5.25|5.25	-1.83|-1.83	0.07833|0.07833	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.676704|.	0.13727|.	N|.	0.366971|.	T|T	0.27205|0.27205	0.0667|0.0667	N|N	0.20328|0.20328	0.56|0.56	0.25998|0.25998	N|N	0.982152|0.982152	B;B;P|.	0.49185|.	0.0;0.0;0.92|.	B;B;P|.	0.46419|.	0.0;0.001;0.516|.	T|T	0.32693|0.32693	-0.9897|-0.9897	10|5	0.87932|.	D|.	0|.	.|.	9.9308|9.9308	0.41521|0.41521	0.7035:0.0:0.2965:0.0|0.7035:0.0:0.2965:0.0	.|.	246;236;166|.	Q6SA08-2;Q6SA08;Q8IZN1|.	.;TSSK4_HUMAN;.|.	L|F	246;160;236|53	ENSP00000339179:H246L;ENSP00000452054:H160L;ENSP00000287913:H236L|.	ENSP00000287913:H236L|.	H|I	+|+	2|1	0|0	TSSK4|TSSK4	23746458|23746458	0.000000|0.000000	0.05858|0.05858	0.496000|0.496000	0.27539|0.27539	0.380000|0.380000	0.30137|0.30137	-0.736000|-0.736000	0.04882|0.04882	-0.200000|-0.200000	0.10300|0.10300	-0.766000|-0.766000	0.03442|0.03442	CAT|ATC		PASS	0.517	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		34	65	34	65	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47504430	47504430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:47504430G>A	ENST00000399232.2	-	8	1760	c.1396C>T	c.(1396-1398)Caa>Taa	p.Q466*	MDGA2_ENST00000426342.1_Nonsense_Mutation_p.Q237*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.Q535*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.Q237*	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	466	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Q237*(2)|p.Q535*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCAGTTACTTGACATTGCAGT	0.408																																						uc001wwj.3																			3	Substitution - Nonsense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1396-1398)CAA>TAA		MAM domain containing 1 isoform 1							223.0	192.0	202.0					14																	47504430		1918	4136	6054	SO:0001587	stop_gained	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504430G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1396C>T	14.37:g.47504430G>A	ENSP00000382178:p.Gln466*					MDGA2_uc001wwi.3_Nonsense_Mutation_p.Q237*|MDGA2_uc010ani.2_Nonsense_Mutation_p.Q26*	p.Q466*	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1592	-			466			Ig-like 5.		F6W3S7|J3KPX6	Nonsense_Mutation	SNP	ENST00000399232.2	37	c.1396C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.485644|3.485644	0.63962|0.63962	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.49916|.	U|.	0.000127|.	.|T	.|0.74261	.|0.3693	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72686	.|-0.4218	.|4	0.15499|.	T|.	0.54|.	.|.	18.0085|18.0085	0.89216|0.89216	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	466;237;535;237|240	.|.	ENSP00000349925:Q237X|.	Q|S	-|-	1|2	0|0	MDGA2|MDGA2	46574180|46574180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.604000|6.604000	0.74150|0.74150	2.608000|2.608000	0.88229|0.88229	0.491000|0.491000	0.48974|0.48974	CAA|TCA		PASS	0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		16	67	16	67	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56083372	56083372	+	Splice_Site	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:56083372G>T	ENST00000395314.3	+	3	729	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F	KTN1_ENST00000395308.1_Splice_Site_p.V221F|KTN1_ENST00000413890.2_Splice_Site_p.V221F|KTN1_ENST00000395311.1_Splice_Site_p.V221F|KTN1_ENST00000416613.1_Splice_Site_p.V221F|KTN1_ENST00000395309.3_Splice_Site_p.V221F|KTN1_ENST00000438792.2_Splice_Site_p.V221F	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	221					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.V221F(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GACAGAAAATGGTGAGATGTT	0.388			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(661-663)GTC>TTC		kinectin 1 isoform a							61.0	58.0	59.0					14																	56083372		2203	4300	6503	SO:0001630	splice_region_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56083372G>T		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.661+1G>T	14.37:g.56083372G>T						KTN1_uc001xce.2_Missense_Mutation_p.V221F|KTN1_uc001xcc.2_Missense_Mutation_p.V221F|KTN1_uc001xcd.2_Missense_Mutation_p.V221F|KTN1_uc010trb.1_Missense_Mutation_p.V221F|KTN1_uc001xcf.1_Missense_Mutation_p.V221F	p.V221F	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			4	963	+			221			Lumenal (Potential).		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.661G>T	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313044	0.60414	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.43	4.53	0.55603	.	0.310580	0.22547	N	0.058647	T	0.34978	0.0916	L	0.40543	1.245	0.45995	D	0.9988	P;P;P;P	0.42757	0.677;0.789;0.677;0.677	B;B;B;B	0.38712	0.203;0.28;0.203;0.28	T	0.28073	-1.0055	10	0.56958	D	0.05	-0.0916	13.5812	0.61905	0.0746:0.0:0.9254:0.0	.	221;221;221;221	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	F	221	ENSP00000394992:V221F;ENSP00000378720:V221F;ENSP00000391964:V221F;ENSP00000378725:V221F;ENSP00000378719:V221F;ENSP00000378722:V221F;ENSP00000388807:V221F	ENSP00000378719:V221F	V	+	1	0	KTN1	55153125	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.366000	0.59492	2.569000	0.86673	0.591000	0.81541	GTC		PASS	0.388	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		Missense_Mutation	6	66	6	66	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58563647	58563647	+	Missense_Mutation	SNP	C	C	G	rs371656172		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:58563647C>G	ENST00000267485.7	-	5	2078	c.1884G>C	c.(1882-1884)gaG>gaC	p.E628D		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	628	Glu-rich.					integral component of membrane (GO:0016021)		p.E628D(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						cctcatcttcctcttcttcat	0.428																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1882-1884)GAG>GAC		hypothetical protein LOC145407 precursor							292.0	210.0	238.0					14																	58563647		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58563647C>G		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1884G>C	14.37:g.58563647C>G	ENSP00000267485:p.Glu628Asp					C14orf37_uc010tro.1_Missense_Mutation_p.E666D|C14orf37_uc001xdd.2_Missense_Mutation_p.E628D	p.E628D	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			5	1995	-			628			Extracellular (Potential).|Glu-rich.		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1884G>C	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693205	0.48202	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.17528	2.27	4.72	0.5	0.16919	Armadillo-like helical (1);	0.400535	0.24020	N	0.042289	T	0.14614	0.0353	L	0.42245	1.32	0.30279	N	0.791494	B;B;B	0.32101	0.356;0.356;0.356	B;B;B	0.40864	0.276;0.342;0.276	T	0.20042	-1.0287	10	0.20519	T	0.43	-0.2455	5.722	0.17992	0.1354:0.5582:0.0:0.3064	.	666;628;628	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	D	628;666	ENSP00000267485:E628D	ENSP00000267485:E628D	E	-	3	2	C14orf37	57633400	0.029000	0.19370	0.990000	0.47175	0.942000	0.58702	-0.835000	0.04386	0.113000	0.18004	0.561000	0.74099	GAG		PASS	0.428	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		13	29	13	29	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64443309	64443309	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:64443309A>T	ENST00000344113.4	+	12	1369	c.1157A>T	c.(1156-1158)tAt>tTt	p.Y386F	SYNE2_ENST00000357395.3_De_novo_Start_OutOfFrame|SYNE2_ENST00000554584.1_Missense_Mutation_p.Y386F|SYNE2_ENST00000358025.3_Missense_Mutation_p.Y386F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	386					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Y386F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGCTAAATTATGCCTTGCCC	0.378																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(1156-1158)TAT>TTT		spectrin repeat containing, nuclear envelope 2							132.0	130.0	131.0					14																	64443309		1842	4091	5933	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64443309A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1157A>T	14.37:g.64443309A>T	ENSP00000341781:p.Tyr386Phe					SYNE2_uc001xgl.2_Missense_Mutation_p.Y386F	p.Y386F	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	12	1387	+			386			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1157A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	9.775	1.173755	0.21704	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55930	0.86;0.86;0.49	5.14	0.0799	0.14418	.	2.432470	0.01955	N	0.042905	T	0.32224	0.0822	N	0.08118	0	0.09310	N	0.999998	B;B	0.22683	0.044;0.073	B;B	0.23150	0.02;0.044	T	0.21008	-1.0258	10	0.10111	T	0.7	.	9.1558	0.36992	0.6004:0.0:0.3996:0.0	.	386;386	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	386	ENSP00000350719:Y386F;ENSP00000341781:Y386F;ENSP00000452570:Y386F	ENSP00000261678:Y386F	Y	+	2	0	SYNE2	63513062	0.000000	0.05858	0.000000	0.03702	0.343000	0.28985	-0.564000	0.05936	-0.244000	0.09639	-0.589000	0.04120	TAT		PASS	0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		78	144	78	144	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72138134	72138134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:72138134G>T	ENST00000555818.1	+	8	2902	c.2554G>T	c.(2554-2556)Gag>Tag	p.E852*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.E852*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.E852*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.E327*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	852					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.E852*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCAGGAGCCGAGCTCAGCAG	0.502																																						uc001xms.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2554-2556)GAG>TAG		signal-induced proliferation-associated 1 like							63.0	61.0	62.0					14																	72138134		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72138134G>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2554G>T	14.37:g.72138134G>T	ENSP00000450832:p.Glu852*					SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.E852*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.E852*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.E852*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.E327*	p.E852*	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	2902	+			852					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.2554G>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	39	7.630473	0.98399	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.2069	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	852;852;852;327	.	ENSP00000351352:E852X	E	+	1	0	SIPA1L1	71207887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.502	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		18	41	18	41	---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72976929	72976929	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:72976929G>A	ENST00000553530.1	+	14	1240	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	RGS6_ENST00000553525.1_Missense_Mutation_p.V345M|RGS6_ENST00000434263.2_Missense_Mutation_p.V276M|RGS6_ENST00000343854.6_Missense_Mutation_p.V308M|RGS6_ENST00000554782.1_Missense_Mutation_p.V206M|RGS6_ENST00000407322.4_Missense_Mutation_p.V345M|RGS6_ENST00000555571.1_Missense_Mutation_p.V345M|RGS6_ENST00000355512.6_Missense_Mutation_p.V345M|RGS6_ENST00000404301.2_Missense_Mutation_p.V345M|RGS6_ENST00000556437.1_Missense_Mutation_p.V345M|RGS6_ENST00000406236.4_Missense_Mutation_p.V345M|RGS6_ENST00000402788.2_Missense_Mutation_p.V345M	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	345	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.V345M(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GAAGGACCAGGTGGGGCGGGA	0.468																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(1033-1035)GTG>ATG		regulator of G-protein signalling 6							113.0	127.0	122.0					14																	72976929		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72976929G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1033G>A	14.37:g.72976929G>A	ENSP00000452331:p.Val345Met					RGS6_uc010ttn.1_Missense_Mutation_p.V345M|RGS6_uc001xmx.3_Missense_Mutation_p.V345M|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.V345M|RGS6_uc010ttp.1_Missense_Mutation_p.V276M|RGS6_uc001xmz.1_Missense_Mutation_p.V206M	p.V345M	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	14	1556	+			345			RGS.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.1033G>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550452	0.65311	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.72	5.72	0.89469	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.110302	0.64402	D	0.000006	T	0.05227	0.0139	L	0.48260	1.515	0.80722	D	1	P;B;P;B	0.44195	0.828;0.14;0.476;0.274	B;B;B;B	0.43916	0.436;0.076;0.23;0.242	T	0.28808	-1.0032	10	0.66056	D	0.02	-11.9566	20.244	0.98389	0.0:0.0:1.0:0.0	.	276;345;350;345	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	M	345;345;345;345;345;345;345;345;345;308;317;276;206;206	ENSP00000451030:V345M;ENSP00000450936:V345M;ENSP00000452331:V345M;ENSP00000451855:V345M;ENSP00000347699:V345M;ENSP00000385243:V345M;ENSP00000384218:V345M;ENSP00000384612:V345M;ENSP00000383953:V345M;ENSP00000341199:V308M;ENSP00000412144:V276M;ENSP00000451912:V206M	ENSP00000341199:V308M	V	+	1	0	RGS6	72046682	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	GTG		PASS	0.468	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			64	114	64	114	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88652109	88652109	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:88652109T>C	ENST00000340700.5	-	7	1838	c.1387A>G	c.(1387-1389)Aag>Gag	p.K463E	KCNK10_ENST00000312350.5_Missense_Mutation_p.K468E|KCNK10_ENST00000319231.5_Missense_Mutation_p.K468E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	463					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.K468E(2)|p.K463E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCAAGGTCTTTTTGAGGTCC	0.507																																						uc001xwo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(1387-1389)AAG>GAG		potassium channel, subfamily K, member 10							153.0	147.0	149.0					14																	88652109		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652109T>C	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1387A>G	14.37:g.88652109T>C	ENSP00000343104:p.Lys463Glu					KCNK10_uc001xwm.2_Missense_Mutation_p.K468E|KCNK10_uc001xwn.2_Missense_Mutation_p.K468E	p.K463E	NM_021161	NP_066984	P57789	KCNKA_HUMAN			7	1844	-			463			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1387A>G	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001687	0.74932	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.92545	-3.05;-3.06;-3.05	5.71	5.71	0.89125	.	0.359703	0.31747	N	0.007130	D	0.88636	0.6490	L	0.40543	1.245	0.58432	D	0.999993	P;P;P	0.43750	0.608;0.816;0.608	B;B;B	0.39068	0.188;0.289;0.188	D	0.89949	0.4078	10	0.72032	D	0.01	.	15.1769	0.72920	0.0:0.0:0.0:1.0	.	463;468;468	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	E	463;468;468	ENSP00000343104:K463E;ENSP00000310568:K468E;ENSP00000312811:K468E	ENSP00000310568:K468E	K	-	1	0	KCNK10	87721862	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	7.499000	0.81566	2.188000	0.69820	0.533000	0.62120	AAG		PASS	0.507	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		17	94	17	94	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93727992	93727992	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:93727992A>G	ENST00000334746.5	-	5	1710	c.1403T>C	c.(1402-1404)aTt>aCt	p.I468T	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.I117T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	468	BACK.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.I468T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCCCCATTTAATCAGATATTT	0.303																																						uc001ybo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1402-1404)ATT>ACT		BTB (POZ) domain containing 7 isoform 1							139.0	142.0	141.0					14																	93727992		2202	4300	6502	SO:0001583	missense	55727							g.chr14:93727992A>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1403T>C	14.37:g.93727992A>G	ENSP00000335615:p.Ile468Thr					BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Intron|BTBD7_uc001ybp.2_Missense_Mutation_p.I117T|BTBD7_uc001ybq.3_Missense_Mutation_p.I383T	p.I468T	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	5	1729	-		all_cancers(154;0.08)	468					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1403T>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278622	0.59758	.	.	ENSG00000011114	ENST00000334746;ENST00000554565	T;T	0.70631	-0.5;-0.5	5.58	5.58	0.84498	BTB/Kelch-associated (2);	0.280579	0.40064	N	0.001197	T	0.70072	0.3182	M	0.65975	2.015	0.80722	D	1	B;B	0.30686	0.29;0.025	B;B	0.29077	0.098;0.057	T	0.71586	-0.4548	10	0.62326	D	0.03	.	15.7958	0.78409	1.0:0.0:0.0:0.0	.	117;468	Q9P203-5;Q9P203	.;BTBD7_HUMAN	T	468;117	ENSP00000335615:I468T;ENSP00000451010:I117T	ENSP00000335615:I468T	I	-	2	0	BTBD7	92797745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.147000	0.66899	0.529000	0.55759	ATT		PASS	0.303	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		7	78	7	78	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761256	93761256	+	Missense_Mutation	SNP	T	T	C	rs200455654		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:93761256T>C	ENST00000334746.5	-	3	417	c.110A>G	c.(109-111)tAt>tGt	p.Y37C	BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y37C|BTBD7_ENST00000298896.3_Missense_Mutation_p.Y37C|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	37					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.Y37C(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTCGCAACCATAGCCTTGCTG	0.343																																						uc001ybo.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(109-111)TAT>TGT		BTB (POZ) domain containing 7 isoform 1		T	CYS/TYR,CYS/TYR	0,4402		0,0,2201	51.0	55.0	54.0		110,110	4.7	1.0	14		54	1,8595		0,1,4297	yes	missense,missense	BTBD7	NM_001002860.2,NM_018167.3	194,194	0,1,6498	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	37/1133,37/411	93761256	1,12997	2201	4298	6499	SO:0001583	missense	55727							g.chr14:93761256T>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.110A>G	14.37:g.93761256T>C	ENSP00000335615:p.Tyr37Cys					BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Missense_Mutation_p.Y37C	p.Y37C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	436	-		all_cancers(154;0.08)	37					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.110A>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.369857	0.24771	0.0	1.16E-4	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525;ENST00000554968	T	0.50277	0.75	5.9	4.73	0.59995	.	0.052629	0.85682	D	0.000000	T	0.50343	0.1610	L	0.43152	1.355	0.80722	D	1	D;D	0.59767	0.963;0.986	P;P	0.53722	0.694;0.733	T	0.45160	-0.9280	10	0.40728	T	0.16	.	11.3036	0.49320	0.242:0.0:0.0:0.758	.	37;37	Q9P203-3;Q9P203	.;BTBD7_HUMAN	C	37	ENSP00000335615:Y37C	ENSP00000298896:Y37C	Y	-	2	0	BTBD7	92831009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.843000	0.62838	1.021000	0.39600	0.533000	0.62120	TAT		PASS	0.343	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		23	57	23	57	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103406186	103406186	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:103406186C>G	ENST00000361246.2	-	33	4978	c.4690G>C	c.(4690-4692)Gag>Cag	p.E1564Q	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E1564Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCAGTCTCTCTTCCTCTGGG	0.612																																						uc001ymi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(4690-4692)GAG>CAG		CDC42-binding protein kinase beta							162.0	170.0	167.0					14																	103406186		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103406186C>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4690G>C	14.37:g.103406186C>G	ENSP00000355237:p.Glu1564Gln						p.E1564Q	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	33	4922	-		Melanoma(154;0.155)	1564						Missense_Mutation	SNP	ENST00000361246.2	37	c.4690G>C	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414856	0.62511	.	.	ENSG00000198752	ENST00000361246	T	0.65549	-0.16	4.29	4.29	0.51040	.	0.050961	0.85682	D	0.000000	T	0.60637	0.2284	L	0.51914	1.62	0.80722	D	1	B	0.29646	0.253	B	0.35550	0.205	T	0.60551	-0.7241	10	0.33940	T	0.23	.	17.1012	0.86651	0.0:1.0:0.0:0.0	.	1564	Q9Y5S2	MRCKB_HUMAN	Q	1564	ENSP00000355237:E1564Q	ENSP00000355237:E1564Q	E	-	1	0	CDC42BPB	102475939	1.000000	0.71417	0.994000	0.49952	0.627000	0.37826	7.680000	0.84062	2.091000	0.63221	0.655000	0.94253	GAG		PASS	0.612	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		66	123	66	123	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811224	23811224	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:23811224A>T	ENST00000314520.3	+	1	771	c.295A>T	c.(295-297)Atc>Ttc	p.I99F	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.I99F|MKRN3_ENST00000568252.1_Missense_Mutation_p.I99F	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	99					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I99F(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GACAAAGCAGATCATCTGCAG	0.602																																						uc001ywh.3																			1	Substitution - Missense(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(295-297)ATC>TTC		makorin ring finger protein 3							55.0	55.0	55.0					15																	23811224		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811224A>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.295A>T	15.37:g.23811224A>T	ENSP00000313881:p.Ile99Phe					MKRN3_uc001ywi.2_Missense_Mutation_p.I99F|MKRN3_uc010ayi.1_Missense_Mutation_p.I99F	p.I99F	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	771	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	99			C3H1-type 1.			Missense_Mutation	SNP	ENST00000314520.3	37	c.295A>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428130	0.43122	.	.	ENSG00000179455	ENST00000314520	T	0.42513	0.97	3.83	-2.26	0.06867	Zinc finger, CCCH-type (2);	0.265518	0.29980	N	0.010706	T	0.24198	0.0586	L	0.38175	1.15	0.09310	N	1	P;P	0.49635	0.926;0.531	B;B	0.40009	0.316;0.118	T	0.24404	-1.0161	10	0.87932	D	0	.	3.9638	0.09423	0.3874:0.0:0.4467:0.1659	.	99;99	Q6NSB6;Q13064	.;MKRN3_HUMAN	F	99	ENSP00000313881:I99F	ENSP00000313881:I99F	I	+	1	0	MKRN3	21362317	0.815000	0.29118	0.010000	0.14722	0.227000	0.25037	1.318000	0.33643	-0.434000	0.07275	-0.371000	0.07208	ATC		PASS	0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		9	48	9	48	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	26026288	26026289	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:26026288_26026289GG>TT	ENST00000356865.6	-	2	642_643	c.531_532CC>AA	c.(529-534)ttCCct>ttAAct	p.177_178FP>LT		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	177					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P178T(1)|p.F177L(1)|p.F177_P178>LT(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATGTCCGCAGGGAAGATTTCGT	0.525																																						uc010ayu.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(532-534)CCT>ACT|c.(529-531)TTC>TTA		ATPase, class V, type 10A																																				SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026288G>T|g.chr15:26026289G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.531_532delinsTT	15.37:g.26026288_26026289delinsTT	ENSP00000349325:p.F177_P178delinsLT						p.P178T|p.F177L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	638|637	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	178|177			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.532C>A|c.531C>A	CCDS32178.1																																																																																				PASS	0.525	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10|9	55|56	9	55	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32928116	32928116	+	Splice_Site	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:32928116G>T	ENST00000361627.3	+	11	2205	c.1483G>T	c.(1483-1485)Ggt>Tgt	p.G495C	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.G467C|ARHGAP11A_ENST00000543522.1_Splice_Site_p.G306C|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.G495C|ARHGAP11A_ENST00000565905.1_Splice_Site_p.G306C	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	495					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G495C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCAAAGAAAGGTACATTTAC	0.294																																					Colon(45;757 1134 30003 36652)	uc001zgy.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(1483-1485)GGT>TGT		Rho GTPase activating protein 11A isoform 1							68.0	67.0	68.0					15																	32928116		2201	4298	6499	SO:0001630	splice_region_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928116G>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1483+1G>T	15.37:g.32928116G>T						ARHGAP11A_uc010ubw.1_Missense_Mutation_p.G306C|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.G495C|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.G467C|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.G306C	p.G495C	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	11	2205	+		all_lung(180;1.3e-11)	495					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.1483G>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.942044	0.73557	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.15487	2.42	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000012	T	0.45736	0.1357	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.985;0.997	T	0.29058	-1.0024	10	0.87932	D	0	.	18.8203	0.92094	0.0:0.0:1.0:0.0	.	495;306	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	C	495;306	ENSP00000355090:G495C	ENSP00000355090:G495C	G	+	1	0	ARHGAP11A	30715408	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.042000	0.64202	2.880000	0.98712	0.650000	0.86243	GGT		PASS	0.294	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	Missense_Mutation	11	23	11	23	---	---	---	---
RAD51	5888	broad.mit.edu	37	15	40993374	40993374	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:40993374G>T	ENST00000267868.3	+	3	468	c.200G>T	c.(199-201)aGt>aTt	p.S67I	RAD51_ENST00000557850.1_Missense_Mutation_p.S67I|RAD51_ENST00000423169.2_Missense_Mutation_p.S67I|RAD51_ENST00000532743.1_Missense_Mutation_p.S67I|RAD51_ENST00000382643.3_Missense_Mutation_p.S67I	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	67	HhH.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S67I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AAGGGAATTAGTGAAGCCAAA	0.403								Homologous recombination																														uc001zmi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)AGT>ATT	Homologous_recombination	RAD51 homolog protein isoform 1							123.0	127.0	126.0					15																	40993374		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:40993374G>T	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.200G>T	15.37:g.40993374G>T	ENSP00000267868:p.Ser67Ile					RAD51_uc010bbw.2_Missense_Mutation_p.S67I|RAD51_uc010bbx.2_Missense_Mutation_p.S67I|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.S67I|RAD51_uc001zmm.1_RNA|RAD51_uc001zmn.1_5'UTR	p.S67I	NM_002875	NP_002866	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	3	499	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	67			HhH.		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.200G>T	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382792	0.95967	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643;ENST00000526763	T;T;T;T;T;T	0.60040	0.64;0.22;0.62;0.67;0.67;0.64	6.04	6.04	0.98038	DNA repair Rad51/transcription factor NusA, alpha-helical (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.75484	0.986;0.963;0.916	D	0.90325	0.4347	10	0.87932	D	0	-18.1738	20.5948	0.99439	0.0:0.0:1.0:0.0	.	67;67;67	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	I	67	ENSP00000432759:S67I;ENSP00000406602:S67I;ENSP00000267868:S67I;ENSP00000433924:S67I;ENSP00000372088:S67I;ENSP00000431897:S67I	ENSP00000267868:S67I	S	+	2	0	RAD51	38780666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.709000	0.98729	2.873000	0.98535	0.563000	0.77884	AGT		PASS	0.403	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		17	81	17	81	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42693865	42693865	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:42693865C>T	ENST00000397163.3	+	11	1600	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	CAPN3_ENST00000349748.3_Missense_Mutation_p.R413C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R461C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R374C|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Missense_Mutation_p.R461C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	461	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R461C(1)|p.R374C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCCTCAGTACCGTCTGAAGCT	0.582																																						uc001zpn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1	GRCh37	CM994189	CAPN3	M		c.(1381-1383)CGT>TGT		calpain 3 isoform a							96.0	80.0	85.0					15																	42693865		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42693865C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1381C>T	15.37:g.42693865C>T	ENSP00000380349:p.Arg461Cys					CAPN3_uc001zpk.1_Missense_Mutation_p.R234C|CAPN3_uc001zpl.1_Missense_Mutation_p.R374C|CAPN3_uc010udf.1_Missense_Mutation_p.R374C|CAPN3_uc010udg.1_Missense_Mutation_p.R326C|CAPN3_uc001zpo.1_Missense_Mutation_p.R461C|CAPN3_uc001zpp.1_Missense_Mutation_p.R413C|CAPN3_uc001zpq.1_5'Flank	p.R461C	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1687	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	461			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1381C>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112619	0.94339	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	4.67	4.67	0.58626	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.95825	0.8641	M	0.92122	3.275	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;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.993	D	0.96904	0.9662	10	0.87932	D	0	.	17.7706	0.88491	0.0:1.0:0.0:0.0	.	326;374;413;461;461;374	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	C	374;461;461;413;461	ENSP00000348667:R374C;ENSP00000380349:R461C;ENSP00000350181:R461C;ENSP00000183936:R413C;ENSP00000326281:R461C	ENSP00000326281:R461C	R	+	1	0	CAPN3	40481157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.721000	0.61951	2.433000	0.82419	0.655000	0.94253	CGT		PASS	0.582	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			13	38	13	38	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45427450	45427450	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:45427450C>T	ENST00000321429.4	+	6	863	c.456C>T	c.(454-456)gaC>gaT	p.D152D	DUOX1_ENST00000389037.3_Silent_p.D152D	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	152	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.D152D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCGCTGGGACCCCGAGACCG	0.716																																						uc001zus.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(454-456)GAC>GAT		dual oxidase 1 precursor							13.0	16.0	15.0					15																	45427450		2186	4283	6469	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45427450C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.456C>T	15.37:g.45427450C>T						DUOX1_uc001zut.1_Silent_p.D152D|DUOX1_uc010bee.1_5'UTR	p.D152D	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	802	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	152			Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.456C>T	CCDS32221.1																																																																																				PASS	0.716	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		5	16	5	16	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49031141	49031141	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:49031141C>T	ENST00000380950.2	-	27	4625	c.4438G>A	c.(4438-4440)Gac>Aac	p.D1480N	CEP152_ENST00000399334.3_Missense_Mutation_p.D1424N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1480					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.D1424N(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGTAGGTCTTTCTTCTTG	0.453																																						uc001zwy.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(4270-4272)GAC>AAC		centrosomal protein 152kDa							125.0	120.0	122.0					15																	49031141		1912	4123	6035	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49031141C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4438G>A	15.37:g.49031141C>T	ENSP00000370337:p.Asp1480Asn					CEP152_uc001zwz.2_Missense_Mutation_p.D1480N	p.D1424N	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	26	4304	-		all_lung(180;0.0428)	1424					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.4270G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154212	0.38021	.	.	ENSG00000103995	ENST00000399334	T	0.56611	0.45	4.87	2.99	0.34606	.	0.641212	0.13786	N	0.362873	T	0.38321	0.1036	L	0.27053	0.805	0.09310	N	0.999996	B	0.22414	0.069	B	0.27715	0.082	T	0.31280	-0.9949	10	0.49607	T	0.09	-3.3828	6.7064	0.23252	0.0:0.6894:0.1476:0.163	.	1424	O94986	CE152_HUMAN	N	1424	ENSP00000382271:D1424N	ENSP00000382271:D1424N	D	-	1	0	CEP152	46818433	0.008000	0.16893	0.011000	0.14972	0.112000	0.19704	0.620000	0.24403	0.770000	0.33336	-0.266000	0.10368	GAC		PASS	0.453	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		9	73	9	73	---	---	---	---
TEX9	374618	broad.mit.edu	37	15	56680704	56680704	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:56680704C>A	ENST00000352903.2	+	5	322	c.298C>A	c.(298-300)Cat>Aat	p.H100N	TEX9_ENST00000537232.1_Missense_Mutation_p.H25N|TEX9_ENST00000558083.2_Missense_Mutation_p.H25N|TEX9_ENST00000561221.2_Missense_Mutation_p.H100N	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	100								p.H100N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		AGTTCATCTTCATTCAGAAAC	0.328																																						uc002adp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)CAT>AAT		testis expressed 9							101.0	102.0	101.0					15																	56680704		2193	4290	6483	SO:0001583	missense	374618							g.chr15:56680704C>A	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.298C>A	15.37:g.56680704C>A	ENSP00000342169:p.His100Asn					TEX9_uc002ado.1_Missense_Mutation_p.H100N|TEX9_uc010ugl.1_Missense_Mutation_p.H25N|TEX9_uc002adq.1_Missense_Mutation_p.H25N	p.H100N	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	5	303	+			100					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.298C>A	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	C	8.773	0.926426	0.18056	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	.	.	.	5.45	1.2	0.21068	.	1.584180	0.02796	N	0.122591	T	0.33030	0.0849	L	0.47716	1.5	0.09310	N	1	B;B	0.27117	0.168;0.003	B;B	0.23018	0.043;0.003	T	0.09250	-1.0683	9	0.17832	T	0.49	-0.6229	3.3129	0.07022	0.1828:0.526:0.0:0.2912	.	25;100	B4DH73;Q8N6V9	.;TEX9_HUMAN	N	100;25	.	ENSP00000342169:H100N	H	+	1	0	TEX9	54467996	0.002000	0.14202	0.046000	0.18839	0.973000	0.67179	-0.259000	0.08721	0.476000	0.27440	0.655000	0.94253	CAT		PASS	0.328	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		5	41	5	41	---	---	---	---
HMG20A	10363	broad.mit.edu	37	15	77769937	77769937	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr15:77769937C>T	ENST00000381714.3	+	8	1084	c.656C>T	c.(655-657)cCt>cTt	p.P219L	HMG20A_ENST00000336216.4_Missense_Mutation_p.P219L	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	219					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P219L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTGACATCCCTATATTTACA	0.328																																						uc002bcr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(655-657)CCT>CTT		high-mobility group 20A							87.0	88.0	88.0					15																	77769937		2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77769937C>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.656C>T	15.37:g.77769937C>T	ENSP00000371133:p.Pro219Leu					HMG20A_uc002bcs.2_Missense_Mutation_p.P219L	p.P219L	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN			8	857	+			219					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.656C>T	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829106	0.90955	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.74002	-0.8;-0.8	6.04	5.11	0.69529	.	0.046294	0.85682	D	0.000000	D	0.87565	0.6209	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89810	0.3981	10	0.87932	D	0	-14.4149	16.5054	0.84271	0.132:0.868:0.0:0.0	.	219	Q9NP66	HM20A_HUMAN	L	219	ENSP00000336856:P219L;ENSP00000371133:P219L	ENSP00000336856:P219L	P	+	2	0	HMG20A	75556992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	1.524000	0.49035	0.563000	0.77884	CCT		PASS	0.328	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		5	26	5	26	---	---	---	---
NARFL	64428	broad.mit.edu	37	16	780560	780560	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:780560C>T	ENST00000251588.2	-	11	1304	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	NARFL_ENST00000568545.1_Missense_Mutation_p.E328K|NARFL_ENST00000540986.1_Missense_Mutation_p.E328K|NARFL_ENST00000562862.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	430					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)	p.E430K(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TCGGGCGCCTCAGCCCGGACC	0.667																																						uc002cjr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)GAG>AAG		nuclear prelamin A recognition factor-like							55.0	56.0	55.0					16																	780560		2200	4294	6494	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:780560C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1288G>A	16.37:g.780560C>T	ENSP00000251588:p.Glu430Lys					NARFL_uc002cjp.2_Missense_Mutation_p.E328K|NARFL_uc002cjq.2_Missense_Mutation_p.E328K|NARFL_uc002cjs.2_Missense_Mutation_p.E212K	p.E430K	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN			11	1300	-		Hepatocellular(780;0.0218)	430					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.1288G>A	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845671	0.16963	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.40756	1.02;1.02	4.94	1.67	0.24075	Iron hydrogenase, small subunit-like (2);Iron hydrogenase (1);	0.492356	0.23043	N	0.052597	T	0.37265	0.0997	L	0.48642	1.525	0.09310	N	0.999997	B	0.13594	0.008	B	0.15052	0.012	T	0.34825	-0.9813	10	0.56958	D	0.05	-17.0274	14.8124	0.70006	0.0:0.5385:0.4615:0.0	.	430	Q9H6Q4	NARFL_HUMAN	K	430;328	ENSP00000251588:E430K;ENSP00000444008:E328K	ENSP00000251588:E430K	E	-	1	0	NARFL	720561	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.224000	0.17738	0.083000	0.17047	0.436000	0.28706	GAG		PASS	0.667	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		6	46	6	46	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857679	9857679	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:9857679C>T	ENST00000396573.2	-	14	4031	c.3722G>A	c.(3721-3723)cGg>cAg	p.R1241Q	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1241Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1084Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1241Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1241Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1241Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1241					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1241Q(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCCCCATCCGCAGGCAGGC	0.582																																						uc002czo.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3721-3723)CGG>CAG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	123.0	125.0					16																	9857679		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857679C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3722G>A	16.37:g.9857679C>T	ENSP00000379818:p.Arg1241Gln					GRIN2A_uc010uym.1_Missense_Mutation_p.R1241Q|GRIN2A_uc010uyn.1_Missense_Mutation_p.R1084Q|GRIN2A_uc002czr.3_Missense_Mutation_p.R1241Q	p.R1241Q	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4270	-			1241			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3722G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166868	0.57476	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12039	2.89;2.72;2.72;2.89;2.89	5.11	5.11	0.69529	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.056599	0.64402	D	0.000001	T	0.17577	0.0422	L	0.47716	1.5	0.28839	N	0.896734	P;P;D	0.53151	0.873;0.896;0.958	B;P;P	0.48627	0.348;0.584;0.532	T	0.04870	-1.0921	9	.	.	.	.	11.0693	0.47993	0.0:0.9155:0.0:0.0845	.	1084;1241;1241	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Q	1241;1241;1084;1241;1241	ENSP00000379818:R1241Q;ENSP00000385872:R1241Q;ENSP00000441572:R1084Q;ENSP00000332549:R1241Q;ENSP00000379820:R1241Q	.	R	-	2	0	GRIN2A	9765180	0.838000	0.29461	1.000000	0.80357	0.992000	0.81027	3.599000	0.54045	2.365000	0.80145	0.655000	0.94253	CGG		PASS	0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			10	91	10	91	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24920378	24920378	+	Silent	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:24920378C>A	ENST00000347898.3	+	14	2233	c.1611C>A	c.(1609-1611)tcC>tcA	p.S537S	SLC5A11_ENST00000565769.1_Silent_p.S473S|SLC5A11_ENST00000424767.2_Silent_p.S502S|SLC5A11_ENST00000539472.1_Silent_p.S473S|SLC5A11_ENST00000449109.2_Silent_p.S381S|SLC5A11_ENST00000568579.1_Silent_p.S467S|SLC5A11_ENST00000545376.1_Silent_p.S467S|SLC5A11_ENST00000569071.1_Silent_p.S381S|SLC5A11_ENST00000567758.1_Silent_p.S502S	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.S537S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCACTGTCTCCACCGTGAGCT	0.532																																						uc002dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1609-1611)TCC>TCA		solute carrier family 5 (sodium/glucose							127.0	97.0	107.0					16																	24920378		2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24920378C>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1611C>A	16.37:g.24920378C>A						SLC5A11_uc002dms.2_Silent_p.S473S|SLC5A11_uc010vcd.1_Silent_p.S502S|SLC5A11_uc002dmt.2_Silent_p.S381S|SLC5A11_uc010vce.1_Silent_p.S467S|SLC5A11_uc010bxt.2_Silent_p.S473S|SLC5A11_uc002dmv.2_Silent_p.S160S	p.S537S	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	14	1843	+			537			Helical; (Potential).			Silent	SNP	ENST00000347898.3	37	c.1611C>A	CCDS10625.1																																																																																				PASS	0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		12	39	12	39	---	---	---	---
NFATC2IP	84901	broad.mit.edu	37	16	28967563	28967563	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:28967563G>T	ENST00000320805.4	+	5	826	c.751G>T	c.(751-753)Gtc>Ttc	p.V251F	RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_5'Flank|NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron|MIR4517_ENST00000578855.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	251					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V251F(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GGATGAAGTGGTCTTGGTGGA	0.607																																						uc002dru.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)GTC>TTC		nuclear factor of activated T-cells,							66.0	58.0	61.0					16																	28967563		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28967563G>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.751G>T	16.37:g.28967563G>T	ENSP00000324792:p.Val251Phe					uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron|NFATC2IP_uc002drv.2_5'UTR|NFATC2IP_uc010vdh.1_5'Flank	p.V251F	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			5	766	+			251					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.751G>T	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542145	0.45280	.	.	ENSG00000176953	ENST00000320805	T	0.23348	1.91	5.34	4.29	0.51040	.	0.073544	0.49916	D	0.000125	T	0.25644	0.0624	M	0.63428	1.95	0.80722	D	1	P	0.45902	0.868	B	0.42386	0.386	T	0.04294	-1.0962	10	0.72032	D	0.01	-19.0045	5.9887	0.19448	0.1603:0.0:0.8397:0.0	.	251	Q8NCF5	NF2IP_HUMAN	F	251	ENSP00000324792:V251F	ENSP00000324792:V251F	V	+	1	0	NFATC2IP	28875064	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	0.917000	0.28665	2.484000	0.83849	0.655000	0.94253	GTC		PASS	0.607	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		14	31	14	31	---	---	---	---
USB1	79650	broad.mit.edu	37	16	58043878	58043878	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:58043878C>T	ENST00000563149.1	+	3	375	c.311C>T	c.(310-312)cCc>cTc	p.P104L	USB1_ENST00000539737.2_Missense_Mutation_p.P104L|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.P53L|USB1_ENST00000423271.3_Missense_Mutation_p.P104L|USB1_ENST00000219281.3_Missense_Mutation_p.P104L	NM_001204911.1	NP_001191840.1			U6 snRNA biogenesis 1									p.P104L(1)									GTGTTGCTGCCCCATGCCCAG	0.592																																						uc002emz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CCC>CTC		hypothetical protein LOC79650							156.0	141.0	146.0					16																	58043878		2198	4300	6498	SO:0001583	missense	79650							g.chr16:58043878C>T	AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000563149.1:c.311C>T	16.37:g.58043878C>T	ENSP00000454692:p.Pro104Leu					C16orf57_uc010via.1_Missense_Mutation_p.P104L|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.P104L|C16orf57_uc010vic.1_Missense_Mutation_p.P53L	p.P104L	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN			3	394	+			104						Missense_Mutation	SNP	ENST00000563149.1	37	c.311C>T		.	.	.	.	.	.	.	.	.	.	C	9.409	1.079963	0.20309	.	.	ENSG00000103005	ENST00000219281;ENST00000543731;ENST00000539737;ENST00000423271	T;T;T	0.53640	0.61;0.61;0.61	5.34	-0.343	0.12632	.	0.500820	0.23633	N	0.046118	T	0.34716	0.0907	L	0.55481	1.735	0.22354	N	0.999173	B;B;B	0.33777	0.061;0.425;0.074	B;B;B	0.31812	0.062;0.136;0.08	T	0.15954	-1.0419	10	0.29301	T	0.29	-1.6735	6.3909	0.21585	0.1251:0.442:0.3637:0.0692	.	104;104;104	B4DZW5;B4DWE3;Q9BQ65	.;.;CP057_HUMAN	L	104;70;104;104	ENSP00000219281:P104L;ENSP00000446143:P104L;ENSP00000409792:P104L	ENSP00000219281:P104L	P	+	2	0	C16orf57	56601379	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	0.239000	0.18023	-0.279000	0.09167	0.655000	0.94253	CCC		PASS	0.592	USB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000429953.1	NM_024598		34	77	34	77	---	---	---	---
PDP2	57546	broad.mit.edu	37	16	66918398	66918398	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:66918398G>T	ENST00000311765.2	+	2	545	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	71					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.D71Y(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AACAGAGGAAGATGATTTTCA	0.488																																						uc002eqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)GAT>TAT		pyruvate dehydrogenase phosphatase isoenzyme 2							77.0	76.0	77.0					16																	66918398		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918398G>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.211G>T	16.37:g.66918398G>T	ENSP00000309548:p.Asp71Tyr						p.D71Y	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	373	+		Ovarian(137;0.0563)	71					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.211G>T	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622315	0.28889	.	.	ENSG00000172840	ENST00000311765	T	0.44083	0.93	4.7	4.7	0.59300	.	0.379898	0.24354	N	0.039257	T	0.34542	0.0901	L	0.53249	1.67	0.33323	D	0.567615	P	0.34780	0.468	B	0.25884	0.064	T	0.53697	-0.8402	10	0.49607	T	0.09	-7.2878	11.6433	0.51246	0.0816:0.0:0.9184:0.0	.	71	Q9P2J9	PDP2_HUMAN	Y	71	ENSP00000309548:D71Y	ENSP00000309548:D71Y	D	+	1	0	PDP2	65475899	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.126000	0.50477	2.612000	0.88384	0.650000	0.86243	GAT		PASS	0.488	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		5	73	5	73	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72992122	72992122	+	Silent	SNP	C	C	T	rs150601682	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:72992122C>T	ENST00000268489.5	-	2	2595	c.1923G>A	c.(1921-1923)gaG>gaA	p.E641E	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	641					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|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)|zinc ion binding (GO:0008270)	p.E641E(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATTTGGGGCACTCCACGCCAC	0.642													C|||	3	0.000599042	0.0	0.0	5008	,	,		16370	0.003		0.0	False		,,,				2504	0.0					uc002fck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1921-1923)GAG>GAA		zinc finger homeobox 3 isoform A							54.0	49.0	51.0					16																	72992122		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992122C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1923G>A	16.37:g.72992122C>T						ZFHX3_uc002fcl.2_Intron	p.E641E	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	2596	-		Ovarian(137;0.13)	641			C2H2-type 2.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.1923G>A	CCDS10908.1																																																																																				PASS	0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	16	7	16	---	---	---	---
TUBB3	10381	broad.mit.edu	37	16	90001435	90001435	+	Silent	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:90001435G>T	ENST00000315491.7	+	4	699	c.576G>T	c.(574-576)ctG>ctT	p.L192L	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.L539L|TUBB3_ENST00000554444.1_Silent_p.L120L|TUBB3_ENST00000304984.5_Silent_p.L120L	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	192					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L192L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TCCACCAGCTGGTGGAGAACA	0.612																																						uc002fph.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(574-576)CTG>CTT		tubulin, beta, 4							227.0	172.0	190.0					16																	90001435		2198	4300	6498	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001435G>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.576G>T	16.37:g.90001435G>T						TUBB3_uc002fpf.2_Silent_p.L539L|TUBB3_uc010ciz.1_Silent_p.L120L|TUBB3_uc002fpg.1_Silent_p.L46L|TUBB3_uc002fpi.1_Silent_p.L120L|TUBB3_uc002fpj.1_Silent_p.L120L|TUBB3_uc010cjb.1_Silent_p.L46L|TUBB3_uc002fpk.1_Silent_p.L46L	p.L192L	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	641	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	192					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.576G>T	CCDS10988.1																																																																																				PASS	0.612	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		52	105	52	105	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(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	GRCh37	CS951538	TP53	S		c.e4+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579311C>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.375+1G>T	17.37:g.7579311C>A		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_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	p.T125_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	11	45	11	45	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29663350	29663350	+	Splice_Site	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr17:29663350G>T	ENST00000358273.4	+	41	6389		c.e41-1		NF1_ENST00000581113.2_Splice_Site|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTCAACTAGATTACAGATC	0.328			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(5)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CS040854	NF1	S		c.e41-1		neurofibromin isoform 1							80.0	72.0	75.0					17																	29663350		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663350G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6007-1G>T	17.37:g.29663350G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Splice_Site_p.I1982_splice|NF1_uc010cso.2_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.I2003_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	41	6340	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.6007_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602968	0.66445	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2577	0.93952	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26687476	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	9.344000	0.97050	2.854000	0.98071	0.655000	0.94253	.		PASS	0.328	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	9	26	9	26	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56540167	56540167	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr17:56540167T>G	ENST00000323777.3	-	4	1627	c.1518A>C	c.(1516-1518)gaA>gaC	p.E506D		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	506					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E506D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGTGGCCCTTCCTGCACAA	0.433																																						uc002iwi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1516-1518)GAA>GAC		heat shock transcription factor family member 5							181.0	163.0	169.0					17																	56540167		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56540167T>G	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1518A>C	17.37:g.56540167T>G	ENSP00000313243:p.Glu506Asp						p.E506D	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			4	1642	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		506					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.1518A>C	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.426387	0.62733	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.73047	-0.71	5.57	-1.17	0.09648	.	0.089012	0.47852	N	0.000201	T	0.50480	0.1618	L	0.27053	0.805	0.29247	N	0.872262	B	0.24920	0.114	B	0.24974	0.057	T	0.43734	-0.9373	10	0.87932	D	0	.	5.2332	0.15434	0.139:0.3844:0.0:0.4765	.	506	Q4G112	HSF5_HUMAN	D	406;506	ENSP00000313243:E506D	ENSP00000313243:E506D	E	-	3	2	HSF5	53895166	0.827000	0.29292	0.997000	0.53966	0.930000	0.56654	-0.406000	0.07187	-0.175000	0.10725	-0.263000	0.10527	GAA		PASS	0.433	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		15	113	15	113	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28934971	28934971	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr18:28934971A>T	ENST00000257192.4	+	15	3024	c.2812A>T	c.(2812-2814)Agt>Tgt	p.S938C	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.S297C|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	938					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.S938C(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)			AGGTAGTCTGAGTATGCACCC	0.483																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(2812-2814)AGT>TGT		desmoglein 1 preproprotein							242.0	233.0	236.0					18																	28934971		2203	4300	6503	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.chr18:28934971A>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.2812A>T	18.37:g.28934971A>T	ENSP00000257192:p.Ser938Cys					DSG1_uc010xbp.1_Missense_Mutation_p.S297C	p.S938C	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3024	+			938			Desmoglein repeat 5.|Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2812A>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	7.378	0.628272	0.14257	.	.	ENSG00000134760	ENST00000257192	T	0.80480	-1.38	5.99	4.85	0.62838	.	0.180825	0.42548	D	0.000681	T	0.79021	0.4376	L	0.48986	1.54	0.38673	D	0.952353	D	0.62365	0.991	P	0.50231	0.635	T	0.78321	-0.2249	10	0.37606	T	0.19	.	8.6375	0.33957	0.8387:0.0:0.1613:0.0	.	938	Q02413	DSG1_HUMAN	C	938	ENSP00000257192:S938C	ENSP00000257192:S938C	S	+	1	0	DSG1	27188969	0.993000	0.37304	0.671000	0.29857	0.443000	0.32047	2.752000	0.47516	1.097000	0.41459	0.533000	0.62120	AGT		PASS	0.483	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		107	175	107	175	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50976931	50976931	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr18:50976931C>A	ENST00000442544.2	+	23	3907	c.3291C>A	c.(3289-3291)aaC>aaA	p.N1097K	DCC_ENST00000581580.1_Missense_Mutation_p.N732K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1097					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.N1097K(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAACAGCAACCTGCTTGTGA	0.527																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3289-3291)AAC>AAA		netrin receptor DCC precursor							134.0	108.0	117.0					18																	50976931		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50976931C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3291C>A	18.37:g.50976931C>A	ENSP00000389140:p.Asn1097Lys					DCC_uc010dpf.1_Missense_Mutation_p.N732K	p.N1097K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3878	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1097			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3291C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690066	0.29962	.	.	ENSG00000187323	ENST00000442544	T	0.52526	0.66	5.67	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.53249	1.67	0.39824	D	0.972882	P	0.37824	0.609	B	0.40285	0.325	T	0.22871	-1.0204	10	0.08179	T	0.78	-12.1262	8.7607	0.34672	0.0:0.7692:0.0:0.2308	.	1097	P43146	DCC_HUMAN	K	1097	ENSP00000389140:N1097K	ENSP00000389140:N1097K	N	+	3	2	DCC	49230929	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.342000	0.43992	1.415000	0.47037	-0.142000	0.14014	AAC		PASS	0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		14	29	14	29	---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6751103	6751103	+	Missense_Mutation	SNP	G	G	C	rs139253875	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:6751103G>C	ENST00000313244.9	+	15	1722	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	TRIP10_ENST00000596758.1_Silent_p.P516P|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Missense_Mutation_p.E399Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.E507Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	563	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E507Q(1)|p.E563Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CTCTATGGCCGAGGGTGAAGA	0.532																																						uc002mfs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1687-1689)GAG>CAG		thyroid hormone receptor interactor 10							52.0	59.0	57.0					19																	6751103		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6751103G>C	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1687G>C	19.37:g.6751103G>C	ENSP00000320117:p.Glu563Gln					TRIP10_uc010dux.1_Silent_p.P516P|TRIP10_uc002mfr.2_Missense_Mutation_p.E507Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.E326Q	p.E563Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN			15	1753	+			563			Interaction with PDE6G (By similarity).|SH3.|Required for podosome formation.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Required for interaction with FASLG and localization to lysosomes.|Interaction with WAS.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1687G>C		.	.	.	.	.	.	.	.	.	.	G	22.3	4.276365	0.80580	.	.	ENSG00000125733	ENST00000313285;ENST00000313244	T;T	0.52057	0.68;0.68	4.66	4.66	0.58398	Src homology-3 domain (4);	0.349695	0.29822	N	0.011119	T	0.67581	0.2908	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.993;0.999	T	0.71206	-0.4661	10	0.87932	D	0	-32.2852	15.4165	0.74974	0.0:0.0:1.0:0.0	.	563;507	Q15642;Q15642-2	CIP4_HUMAN;.	Q	507;563	ENSP00000320493:E507Q;ENSP00000320117:E563Q	ENSP00000320117:E563Q	E	+	1	0	TRIP10	6702103	1.000000	0.71417	0.992000	0.48379	0.699000	0.40488	8.973000	0.93428	2.580000	0.87095	0.305000	0.20034	GAG		PASS	0.532	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			13	29	13	29	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8971706	8971706	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:8971706T>A	ENST00000397910.4	-	78	43089	c.42886A>T	c.(42886-42888)Acc>Tcc	p.T14296S	MUC16_ENST00000380951.5_Missense_Mutation_p.T937S|MUC16_ENST00000596956.1_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14379	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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.T14296S(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						AACTGGTAGGTGGAGCCCAGC	0.527																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(42886-42888)ACC>TCC		mucin 16							67.0	68.0	68.0					19																	8971706		1930	4138	6068	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8971706T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42886A>T	19.37:g.8971706T>A	ENSP00000381008:p.Thr14296Ser					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T1096S|MUC16_uc010xki.1_RNA	p.T14296S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			78	43090	-			14379	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42886A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	T	9.742	1.165235	0.21538	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35973	1.28;1.28	3.99	2.88	0.33553	.	0.171732	0.28031	N	0.016878	T	0.49287	0.1548	M	0.75777	2.31	.	.	.	D;P	0.67145	0.996;0.811	D;P	0.63381	0.914;0.879	T	0.58239	-0.7671	9	0.25106	T	0.35	.	6.9795	0.24696	0.0:0.0:0.2346:0.7654	.	21941;14296	Q8WXI7;B5ME49	MUC16_HUMAN;.	S	14296;937	ENSP00000381008:T14296S;ENSP00000370338:T937S	ENSP00000370338:T937S	T	-	1	0	MUC16	8832706	0.995000	0.38212	0.945000	0.38365	0.029000	0.11900	1.079000	0.30766	1.802000	0.52723	0.482000	0.46254	ACC		PASS	0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	15	13	15	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14736383	14736383	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:14736383C>G	ENST00000253673.5	-	15	1941	c.1841G>C	c.(1840-1842)aGa>aCa	p.R614T	EMR3_ENST00000344373.4_Missense_Mutation_p.R562T|EMR3_ENST00000443157.2_Missense_Mutation_p.R488T|EMR3_ENST00000599900.1_Missense_Mutation_p.R399T	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	614					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R614T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TACGATCTCTCTAAACCACTT	0.418																																						uc002mzi.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1840-1842)AGA>ACA		egf-like module-containing mucin-like receptor							219.0	195.0	203.0					19																	14736383		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14736383C>G	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1841G>C	19.37:g.14736383C>G	ENSP00000253673:p.Arg614Thr					EMR3_uc010dzp.2_Missense_Mutation_p.R562T|EMR3_uc010xnv.1_Missense_Mutation_p.R488T	p.R614T	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			15	1989	-			614			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1841G>C	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	8.798	0.932277	0.18131	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.40225	1.04;1.04;1.04	3.79	-3.29	0.05017	.	.	.	.	.	T	0.16085	0.0387	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.32543	0.258;0.375;0.001	B;B;B	0.36922	0.119;0.236;0.002	T	0.24476	-1.0159	9	0.56958	D	0.05	.	3.7653	0.08620	0.1601:0.2644:0.4722:0.1033	.	488;562;614	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	T	488;614;562	ENSP00000396208:R488T;ENSP00000253673:R614T;ENSP00000340758:R562T	ENSP00000253673:R614T	R	-	2	0	EMR3	14597383	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.483000	0.06536	-0.200000	0.10300	-0.224000	0.12420	AGA		PASS	0.418	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		11	65	11	65	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42213940	42213940	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:42213940G>A	ENST00000221992.6	+	2	520	c.406G>A	c.(406-408)Ggc>Agc	p.G136S	CEA_ENST00000598976.1_Missense_Mutation_p.G136S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G136S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G136S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	136	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.G136S(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGAAGCAACTGGCCAGTTCCG	0.517																																						uc002ork.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(406-408)GGC>AGC		carcinoembryonic antigen-related cell adhesion							217.0	209.0	212.0					19																	42213940		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213940G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.406G>A	19.37:g.42213940G>A	ENSP00000221992:p.Gly136Ser					CEACAM5_uc010ehz.1_Missense_Mutation_p.G136S|CEACAM5_uc002orj.1_Missense_Mutation_p.G136S|CEACAM5_uc002orl.2_Missense_Mutation_p.G136S	p.G136S	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	527	+			136			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.406G>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.23|12.23	1.876371|1.876371	0.33162|0.33162	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816|ENST00000398599	T;T|.	0.64618|.	-0.11;-0.11|.	3.09|3.09	0.757|0.757	0.18427|0.18427	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|.	0.40247|.	0.1109|.	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	P;P;P|.	0.45240|.	0.59;0.854;0.854|.	P;P;P|.	0.59703|.	0.862;0.858;0.858|.	T|.	0.33979|.	-0.9847|.	9|.	0.62326|.	D|.	0.03|.	.|.	3.3988|3.3988	0.07316|0.07316	0.1443:0.0:0.6031:0.2526|0.1443:0.0:0.6031:0.2526	.|.	136;136;136|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	S|X	136|132	ENSP00000221992:G136S;ENSP00000385072:G136S|.	ENSP00000221992:G136S|.	G|W	+|+	1|2	0|0	CEACAM5|CEACAM5	46905780|46905780	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	0.380000|0.380000	0.20602|0.20602	0.135000|0.135000	0.18707|0.18707	0.305000|0.305000	0.20034|0.20034	GGC|TGG		PASS	0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		36	170	36	170	---	---	---	---
CD37	951	broad.mit.edu	37	19	49838976	49838976	+	Silent	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:49838976C>A	ENST00000323906.4	+	2	216	c.75C>A	c.(73-75)ctC>ctA	p.L25L	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000598095.1_5'UTR|CD37_ENST00000535669.2_Silent_p.L25L	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	25					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L25L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCCAGGTCCTCGGCAGCCTGA	0.657																																						uc002pnd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(73-75)CTC>CTA		CD37 antigen isoform A							226.0	227.0	227.0					19																	49838976		2203	4300	6503	SO:0001819	synonymous_variant	951					integral to membrane		g.chr19:49838976C>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.75C>A	19.37:g.49838976C>A						uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.L25L|CD37_uc010yan.1_5'UTR|CD37_uc002pnf.3_5'UTR|CD37_uc002pne.2_5'UTR	p.L25L	NM_001774	NP_001765	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	2	196	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	25			Helical; (Potential).		B4DVC1|Q3KPF9	Silent	SNP	ENST00000323906.4	37	c.75C>A	CCDS12760.1																																																																																				PASS	0.657	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			67	236	67	236	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50247496	50247496	+	Silent	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:50247496G>C	ENST00000246801.3	-	8	1435	c.1353C>G	c.(1351-1353)cgC>cgG	p.R451R	TSKS_ENST00000358830.3_Silent_p.R251R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	451					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.R451R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACCTGGCACAGCGGGCACAGT	0.582																																						uc002ppm.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1351-1353)CGC>CGG		testis-specific kinase substrate							66.0	62.0	63.0					19																	50247496		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50247496G>C	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1353C>G	19.37:g.50247496G>C							p.R451R	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	8	1364	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	451					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1353C>G	CCDS12780.1																																																																																				PASS	0.582	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		10	41	10	41	---	---	---	---
PTOV1	53635	broad.mit.edu	37	19	50357725	50357725	+	Silent	SNP	C	C	T	rs545720828		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:50357725C>T	ENST00000601675.1	+	2	338	c.234C>T	c.(232-234)ctC>ctT	p.L78L	PTOV1_ENST00000391842.1_Silent_p.L78L|MIR4749_ENST00000578197.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000221557.9_Silent_p.L46L|PTOV1_ENST00000600603.1_Silent_p.L46L|AC018766.6_ENST00000601211.1_RNA|PTOV1-AS1_ENST00000596521.1_RNA|PTOV1_ENST00000599732.1_Silent_p.L78L|PTOV1_ENST00000601638.1_Silent_p.L46L|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L78L(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGCTCACCCTCGGGGGTCTGG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15896	0.0		0.0	False		,,,				2504	0.0					uc002pqf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)CTC>CTT		prostate tumor overexpressed 1							67.0	75.0	72.0					19																	50357725		2203	4300	6503	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50357725C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.234C>T	19.37:g.50357725C>T						uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Silent_p.L46L|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.L46L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.L78L	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	2	404	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	78					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.234C>T	CCDS12782.1																																																																																				PASS	0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		8	80	8	80	---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612438	53612438	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:53612438A>T	ENST00000500065.4	-	4	1193	c.860T>A	c.(859-861)cTt>cAt	p.L287H	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.L57H|ZNF415_ENST00000455735.2_Missense_Mutation_p.L335H|ZNF415_ENST00000448501.1_Missense_Mutation_p.L335H|ZNF415_ENST00000243643.4_Missense_Mutation_p.L287H|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.L299H|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.L274H|ZNF415_ENST00000595193.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L287H(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ATGTAGTGCAAGGCATGAGTT	0.413																																						uc002qax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1003-1005)CTT>CAT		RecName: Full=Zinc finger protein 415;							105.0	91.0	96.0					19																	53612438		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612438A>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.860T>A	19.37:g.53612438A>T	ENSP00000439435:p.Leu287His					ZNF415_uc002qat.2_Missense_Mutation_p.L299H|ZNF415_uc002qaw.2_Missense_Mutation_p.L287H|ZNF415_uc010yds.1_Missense_Mutation_p.L287H|ZNF415_uc010ydt.1_Missense_Mutation_p.L287H|ZNF415_uc002qau.2_Missense_Mutation_p.L274H|ZNF415_uc002qav.2_Missense_Mutation_p.L299H|ZNF415_uc002qba.2_Missense_Mutation_p.L57H|ZNF415_uc002qay.2_Missense_Mutation_p.L274H|ZNF415_uc002qaz.2_Missense_Mutation_p.L335H	p.L335H	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1353	-			335			C2H2-type 3.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1004T>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344035	0.41498	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;2.52	2.78	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62756	0.2454	M	0.93854	3.465	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.924;1.0;0.954;0.986;0.924;0.998	T	0.53725	-0.8398	9	0.87932	D	0	.	10.1307	0.42676	1.0:0.0:0.0:0.0	.	287;335;335;287;274;299	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	H	287;287;335;299;335;274	ENSP00000243643:L287H;ENSP00000439435:L287H;ENSP00000396492:L335H;ENSP00000395055:L299H;ENSP00000388787:L335H;ENSP00000414601:L274H	ENSP00000243643:L287H	L	-	2	0	ZNF415	58304250	0.109000	0.22037	0.004000	0.12327	0.054000	0.15201	3.357000	0.52277	1.286000	0.44565	0.402000	0.26972	CTT		PASS	0.413	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		7	54	7	54	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55597214	55597214	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:55597214G>A	ENST00000201647.6	+	15	1447	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	EPS8L1_ENST00000588359.1_Missense_Mutation_p.R150Q|EPS8L1_ENST00000540810.1_Missense_Mutation_p.R400Q|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R337Q|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R478Q	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	464					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)	p.R464Q(1)|p.R337Q(1)|p.R478Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTCAGTCACCGAGACTTGGAG	0.577																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.3																			3	Substitution - Missense(3)		lung(3)		0						c.(1390-1392)CGA>CAA		epidermal growth factor receptor pathway							73.0	76.0	75.0					19																	55597214		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55597214G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1391G>A	19.37:g.55597214G>A	ENSP00000201647:p.Arg464Gln					EPS8L1_uc010ess.1_Missense_Mutation_p.R478Q|EPS8L1_uc010yfr.1_Missense_Mutation_p.R400Q|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.R337Q|EPS8L1_uc002qiv.2_Missense_Mutation_p.R142Q|EPS8L1_uc002qiw.2_Missense_Mutation_p.R243Q	p.R464Q	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	15	1495	+			464					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1391G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.393137	0.01185	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.05996	3.61;3.39;3.36	3.89	1.26	0.21427	Src homology-3 domain (1);	3.510960	0.00881	N	0.002135	T	0.01730	0.0055	N	0.00289	-1.7	0.09310	N	1	B;B;B;B	0.12630	0.001;0.006;0.0;0.002	B;B;B;B	0.09377	0.001;0.004;0.0;0.001	T	0.41662	-0.9496	10	0.11182	T	0.66	-3.6532	5.0901	0.14704	0.4088:0.472:0.1192:0.0	.	478;243;337;464	Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	Q	478;464;400;337;150	ENSP00000201647:R464Q;ENSP00000437541:R400Q;ENSP00000245618:R337Q	ENSP00000201647:R464Q	R	+	2	0	EPS8L1	60289026	0.048000	0.20356	0.440000	0.26846	0.329000	0.28539	0.074000	0.14662	0.059000	0.16252	-0.381000	0.06696	CGA		PASS	0.577	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		15	73	15	73	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56953294	56953294	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:56953294G>A	ENST00000504904.3	-	7	1789	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	ZNF667_ENST00000292069.6_Missense_Mutation_p.P357L|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.P485L			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	357					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.P357L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ACATTTGTACGGTTTCTCTGA	0.353																																						uc002qnd.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1069-1071)CCG>CTG		zinc finger protein 667							86.0	92.0	90.0					19																	56953294		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953294G>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1070C>T	19.37:g.56953294G>A	ENSP00000439402:p.Pro357Leu					ZNF667_uc010etl.2_Missense_Mutation_p.P139L|ZNF667_uc002qne.2_Missense_Mutation_p.P357L|ZNF667_uc010etm.2_Missense_Mutation_p.P300L	p.P357L	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1232	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	357					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.1070C>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	7.289	0.610650	0.14066	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.27557	1.66;1.66;1.66	5.05	1.71	0.24356	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.518970	0.16396	N	0.216243	T	0.22360	0.0539	L	0.56124	1.755	0.40286	D	0.978453	P;B	0.43024	0.798;0.435	B;B	0.32980	0.156;0.111	T	0.06144	-1.0843	10	0.72032	D	0.01	-0.1392	6.4426	0.21859	0.1699:0.1511:0.679:0.0	.	485;357	E7EPS0;Q5HYK9	.;ZN667_HUMAN	L	485;357;357;139;129	ENSP00000344699:P485L;ENSP00000439402:P357L;ENSP00000292069:P357L	ENSP00000292069:P357L	P	-	2	0	ZNF667	61645106	1.000000	0.71417	0.000000	0.03702	0.010000	0.07245	3.873000	0.56093	0.291000	0.22468	0.591000	0.81541	CCG		PASS	0.353	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		11	55	11	55	---	---	---	---
AURKC	6795	broad.mit.edu	37	19	57746259	57746259	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr19:57746259A>G	ENST00000302804.7	+	6	778	c.592A>G	c.(592-594)Aca>Gca	p.T198A	AURKC_ENST00000598785.1_Missense_Mutation_p.T164A|AURKC_ENST00000415300.2_Missense_Mutation_p.T179A|AURKC_ENST00000448930.1_Missense_Mutation_p.T164A|AURKC_ENST00000599062.1_Missense_Mutation_p.T195A	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.T164A(1)|p.T198A(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TAGGAGGAAGACAATGTGTGG	0.483																																						uc002qoe.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)	6						c.(592-594)ACA>GCA		aurora kinase C isoform 1							107.0	91.0	97.0					19																	57746259		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746259A>G		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.592A>G	19.37:g.57746259A>G	ENSP00000302898:p.Thr198Ala					AURKC_uc002qoc.2_Missense_Mutation_p.T179A|AURKC_uc002qod.2_Missense_Mutation_p.T164A|AURKC_uc010etv.2_Missense_Mutation_p.T195A	p.T198A	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	781	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	198	T->A: Impairs kinase activity.		Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.592A>G	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071522	0.76301	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.66280	-0.2;-0.2;-0.2	3.91	3.91	0.45181	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101910	0.64402	D	0.000003	T	0.70316	0.3210	L	0.42487	1.325	0.80722	D	1	D;D;D	0.59357	0.985;0.985;0.981	D;D;D	0.76575	0.988;0.922;0.98	T	0.73033	-0.4110	10	0.87932	D	0	-7.1024	11.3895	0.49806	1.0:0.0:0.0:0.0	.	195;198;179	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	A	179;164;198	ENSP00000407162:T179A;ENSP00000406798:T164A;ENSP00000302898:T198A	ENSP00000302898:T198A	T	+	1	0	AURKC	62438071	1.000000	0.71417	0.825000	0.32803	0.898000	0.52572	7.632000	0.83247	2.003000	0.58678	0.533000	0.62120	ACA		PASS	0.483	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		6	46	6	46	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961247	1961247	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:1961247G>A	ENST00000217305.2	-	4	712	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	PDYN_ENST00000540134.1_Missense_Mutation_p.L163F|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.L163F	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	163					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.L163F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCAGCGAGATAGAGTGTG	0.602																																						uc010gaj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(487-489)CTC>TTC		beta-neoendorphin-dynorphin preproprotein							110.0	107.0	108.0					20																	1961247		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961247G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.487C>T	20.37:g.1961247G>A	ENSP00000217305:p.Leu163Phe					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.L163F|PDYN_uc010zpt.1_Missense_Mutation_p.L8F	p.L163F	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	729	-			163					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.487C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.283340	0.01398	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80123	-1.34;-1.34;-1.34	4.71	1.09	0.20402	.	1.517930	0.03470	N	0.213568	T	0.48677	0.1513	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51553	-0.8691	10	0.08599	T	0.76	-1.2488	4.0798	0.09921	0.5434:0.1754:0.2812:0.0	.	163	P01213	PDYN_HUMAN	F	163	ENSP00000440185:L163F;ENSP00000442259:L163F;ENSP00000217305:L163F	ENSP00000217305:L163F	L	-	1	0	PDYN	1909247	0.018000	0.18449	0.001000	0.08648	0.014000	0.08584	1.152000	0.31663	-0.003000	0.14444	-0.573000	0.04149	CTC		PASS	0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			23	75	23	75	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2575614	2575614	+	Splice_Site	SNP	G	G	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:2575614G>A	ENST00000358864.1	+	9	1091		c.e9+1			NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATTCGATCGTAAGTATGAC	0.557																																						uc002wgf.1																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e9+1		transmembrane cochlear-expressed protein 2							134.0	106.0	116.0					20																	2575614		2203	4300	6503	SO:0001630	splice_region_variant	117532					integral to membrane		g.chr20:2575614G>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1076+1G>A	20.37:g.2575614G>A						TMC2_uc002wgg.1_Splice_Site_p.S343_splice|TMC2_uc010zpw.1_Splice_Site_p.S191_splice|TMC2_uc010zpx.1_Splice_Site_p.S190_splice	p.S359_splice	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			9	1091	+								Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Splice_Site	SNP	ENST00000358864.1	37	c.1076_splice	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826137	0.90955	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9615	0.86273	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC2	2523614	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.476000	0.97823	2.676000	0.91093	0.655000	0.94253	.		PASS	0.557	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		Intron	12	54	12	54	---	---	---	---
SCP2D1	140856	broad.mit.edu	37	20	18794684	18794684	+	Silent	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:18794684C>A	ENST00000377428.2	+	1	315	c.225C>A	c.(223-225)acC>acA	p.T75T	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	75	SCP2.							p.T75T(1)									TGGACATCACCAAAAATGGGA	0.493																																						uc002wrk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(223-225)ACC>ACA		hypothetical protein LOC140856							110.0	102.0	105.0					20																	18794684		2203	4300	6503	SO:0001819	synonymous_variant	140856						sterol binding	g.chr20:18794684C>A	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.225C>A	20.37:g.18794684C>A						uc002wrj.1_Intron	p.T75T	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN			1	315	+			75			SCP2.		Q548A4	Silent	SNP	ENST00000377428.2	37	c.225C>A	CCDS13139.1																																																																																				PASS	0.493	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		19	65	19	65	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20486081	20486081	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:20486081C>A	ENST00000202677.7	-	34	5033	c.5026G>T	c.(5026-5028)Gac>Tac	p.D1676Y		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1676	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.D1676Y(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCAACAAAGTCTTCATATGCT	0.403																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5026-5028)GAC>TAC		akt substrate AS250							74.0	70.0	71.0					20																	20486081		1935	4181	6116	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20486081C>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5026G>T	20.37:g.20486081C>A	ENSP00000202677:p.Asp1676Tyr					RALGAPA2_uc010gcx.2_Missense_Mutation_p.D1380Y|RALGAPA2_uc010zsg.1_Missense_Mutation_p.D1124Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.D448Y	p.D1676Y	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			34	5169	-			1676			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.5026G>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.649117|4.649117	0.87958|0.87958	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000417022;ENST00000202677|ENST00000430436;ENST00000427175	D;D|.	0.94376|.	-3.41;-3.41|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.985;1.0;0.985|.	D;D;D|.	0.71414|.	0.928;0.973;0.967|.	T|T	0.72083|0.72083	-0.4397|-0.4397	10|5	0.87932|.	D|.	0|.	.|.	20.4239|20.4239	0.99064|0.99064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1514;1676;1676|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	Y|N	106;1676|1492;86	ENSP00000408332:D106Y;ENSP00000202677:D1676Y|.	ENSP00000202677:D1676Y|.	D|K	-|-	1|3	0|2	RALGAPA2|RALGAPA2	20434081|20434081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	7.738000|7.738000	0.84966|0.84966	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GAC|AAG		PASS	0.403	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	10	5	10	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21143751	21143751	+	RNA	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:21143751A>T	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							GCAAACCCTAAGCTCTCCTGA	0.373																																						uc002wsb.2																			0					0						c.(1303-1305)AGC>TGC		polo-like kinase 1 substrate 1 isoform 1							95.0	95.0	95.0					20																	21143751		1853	4106	5959			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143751A>T																													20.37:g.21143751A>T						PLK1S1_uc010zsh.1_Missense_Mutation_p.S332C|PLK1S1_uc010zsi.1_Missense_Mutation_p.S302C|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	p.S435C	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			6	1436	+			435						Missense_Mutation	SNP	ENST00000591761.1	37	c.1303A>T																																																																																					PASS	0.373	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			35	139	35	139	---	---	---	---
BPIFB3	359710	broad.mit.edu	37	20	31659950	31659950	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:31659950C>A	ENST00000375494.3	+	13	1301	c.1301C>A	c.(1300-1302)gCa>gAa	p.A434E		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	434					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A434E(1)									GTGGTCGGGGCAGTGTATGCA	0.522																																						uc002wym.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1300-1302)GCA>GAA		antimicrobial peptide RYA3 precursor							183.0	128.0	147.0					20																	31659950		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31659950C>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1301C>A	20.37:g.31659950C>A	ENSP00000364643:p.Ala434Glu						p.A434E	NM_182658	NP_872599	P59826	LPLC3_HUMAN			13	1301	+			434					Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.1301C>A	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	C	8.192	0.796147	0.16327	.	.	ENSG00000186190	ENST00000375494	T	0.07567	3.18	4.19	-0.427	0.12310	.	0.565864	0.15454	N	0.261474	T	0.06371	0.0164	N	0.21097	0.63	0.09310	N	1	B	0.34147	0.438	B	0.44044	0.439	T	0.33904	-0.9850	10	0.02654	T	1	-0.3637	8.2832	0.31913	0.0:0.5325:0.0:0.4675	.	434	P59826	BPIB3_HUMAN	E	434	ENSP00000364643:A434E	ENSP00000364643:A434E	A	+	2	0	BPIFB3	31123611	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.488000	0.06497	-0.611000	0.05709	-1.119000	0.02030	GCA		PASS	0.522	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		9	38	9	38	---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56139260	56139260	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:56139260T>C	ENST00000319441.4	+	7	1161	c.997T>C	c.(997-999)Ttc>Ctc	p.F333L	PCK1_ENST00000543666.1_Missense_Mutation_p.F16L|PCK1_ENST00000535860.1_Missense_Mutation_p.F201L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	333					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.F333L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAATGGCTTTTTCGGTGTCGC	0.478																																						uc002xyn.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(997-999)TTC>CTC		cytosolic phosphoenolpyruvate carboxykinase 1							75.0	72.0	73.0					20																	56139260		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139260T>C		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.997T>C	20.37:g.56139260T>C	ENSP00000319814:p.Phe333Leu					PCK1_uc010zzm.1_Missense_Mutation_p.F16L	p.F333L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1160	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		333					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.997T>C	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	T	32	5.165069	0.94727	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.20069	2.1;2.1;2.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.958	T	0.74839	-0.3528	10	0.72032	D	0.01	-13.6061	15.8384	0.78818	0.0:0.0:0.0:1.0	.	16;333	B4DT64;P35558	.;PCKGC_HUMAN	L	15;333;16;201	ENSP00000319814:F333L;ENSP00000445767:F16L;ENSP00000444342:F201L	ENSP00000319814:F333L	F	+	1	0	PCK1	55572666	1.000000	0.71417	0.976000	0.42696	0.928000	0.56348	7.544000	0.82117	2.191000	0.70037	0.533000	0.62120	TTC		PASS	0.478	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			5	31	5	31	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58883553	58883553	+	lincRNA	SNP	G	G	T	rs538777240		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:58883553G>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						tgccagtggagtcagcacacc	0.562																																						hsa-mir-646|MI0003661																			0					0															77.0	77.0	77.0					20																	58883553		1568	3582	5150			693231							g.chr20:58883553G>T																													20.37:g.58883553G>T						uc002ybl.2_Intron|uc010gjw.1_Intron										+									RNA	SNP	ENST00000432910.1	37	c.22G>T																																																																																					PASS	0.562	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			8	26	8	26	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61834312	61834312	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr20:61834312C>A	ENST00000370339.3	-	4	1321	c.980G>T	c.(979-981)cGc>cTc	p.R327L	YTHDF1_ENST00000370333.4_Missense_Mutation_p.R277L|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	327	Gln/Pro-rich.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.R327L(1)|p.R145L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGCAACCCAGCGGGTCTGGGG	0.657																																						uc002yeh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(979-981)CGC>CTC		YTH domain family, member 1							28.0	32.0	30.0					20																	61834312		2202	4292	6494	SO:0001583	missense	54915							g.chr20:61834312C>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.980G>T	20.37:g.61834312C>A	ENSP00000359364:p.Arg327Leu					YTHDF1_uc011aaq.1_Missense_Mutation_p.R277L	p.R327L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN			4	1274	-			327			Gln/Pro-rich.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.980G>T	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496200	0.85069	.	.	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.58797	0.31;0.31	5.0	4.05	0.47172	.	0.140545	0.64402	D	0.000003	T	0.72827	0.3509	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.76950	-0.2769	10	0.72032	D	0.01	-13.7054	13.7468	0.62881	0.0:0.9239:0.0:0.0761	.	327	Q9BYJ9	YTHD1_HUMAN	L	327;277;143	ENSP00000359364:R327L;ENSP00000359358:R277L	ENSP00000339489:R143L	R	-	2	0	YTHDF1	61304757	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	4.750000	0.62162	2.330000	0.79161	0.579000	0.79373	CGC		PASS	0.657	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		10	14	10	14	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32513671	32513671	+	Silent	SNP	C	C	T	rs367873088		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr21:32513671C>T	ENST00000286827.3	-	22	4098	c.3627G>A	c.(3625-3627)gcG>gcA	p.A1209A	TIAM1_ENST00000541036.1_Silent_p.A1149A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1209	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1209A(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCGCTCTCCGCATCGGTCA	0.597																																						uc002yow.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3625-3627)GCG>GCA		T-cell lymphoma invasion and metastasis 1		C		1,4405	2.1+/-5.4	0,1,2202	111.0	99.0	103.0		3627	-11.1	0.0	21		103	0,8600		0,0,4300	no	coding-synonymous	TIAM1	NM_003253.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1209/1592	32513671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32513671C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3627G>A	21.37:g.32513671C>T						TIAM1_uc011adk.1_Silent_p.A1209A|TIAM1_uc011adl.1_Silent_p.A1149A	p.A1209A	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			22	4099	-			1209			DH.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.3627G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072346	0.01918	2.27E-4	0.0	ENSG00000156299	ENST00000399841	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	T	0.46814	0.1412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62704	-0.6798	5	0.87932	D	0	.	1.2185	0.01919	0.2539:0.2312:0.2994:0.2155	.	.	.	.	R	1049	.	ENSP00000382735:G1049R	G	-	1	0	TIAM1	31435542	0.000000	0.05858	0.008000	0.14137	0.060000	0.15804	-9.102000	0.00014	-3.099000	0.00245	-3.037000	0.00071	GGA		PASS	0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		7	63	7	63	---	---	---	---
CRYAA	1409	broad.mit.edu	37	21	44589369	44589369	+	Missense_Mutation	SNP	C	C	T	rs397515623		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr21:44589369C>T	ENST00000291554.2	+	1	252	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000398133.1_5'Flank	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	54					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.R54C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTCCCTCTTCCGCACCGTGCT	0.637																																						uc002zdd.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2	GRCh37	CM076130	CRYAA	M		c.(160-162)CGC>TGC		crystallin, alpha A							134.0	123.0	127.0					21																	44589369		2203	4300	6503	SO:0001583	missense	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44589369C>T		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.160C>T	21.37:g.44589369C>T	ENSP00000291554:p.Arg54Cys						p.R54C	NM_000394	NP_000385	P02489	CRYAA_HUMAN			1	229	+			54					Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	c.160C>T	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865282	0.91511	.	.	ENSG00000160202	ENST00000291554	D	0.89415	-2.51	4.88	4.88	0.63580	Alpha-crystallin, N-terminal (1);HSP20-like chaperone (1);	0.107597	0.64402	D	0.000003	D	0.94883	0.8346	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94897	0.8053	10	0.45353	T	0.12	-35.7919	16.1827	0.81921	0.0:1.0:0.0:0.0	.	54	P02489	CRYAA_HUMAN	C	54	ENSP00000291554:R54C	ENSP00000291554:R54C	R	+	1	0	CRYAA	43462438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.105000	0.57797	2.256000	0.74724	0.609000	0.83330	CGC		PASS	0.637	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			32	41	32	41	---	---	---	---
PPIL2	23759	broad.mit.edu	37	22	22039088	22039088	+	Silent	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr22:22039088A>T	ENST00000335025.8	+	10	691	c.600A>T	c.(598-600)acA>acT	p.T200T	PPIL2_ENST00000406385.1_Silent_p.T200T|PPIL2_ENST00000456792.2_Silent_p.T179T|PPIL2_ENST00000492445.2_Silent_p.T200T|PPIL2_ENST00000412327.1_Silent_p.T200T|PPIL2_ENST00000398831.3_Silent_p.T200T					peptidylprolyl isomerase (cyclophilin)-like 2									p.T200T(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					TGAAAAATACAAATGCCGAGA	0.542																																						uc010gtj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(598-600)ACA>ACT		peptidylprolyl isomerase-like 2 isoform a							43.0	44.0	43.0					22																	22039088		2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22039088A>T		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.600A>T	22.37:g.22039088A>T						PPIL2_uc002zvh.3_Silent_p.T200T|PPIL2_uc002zvi.3_Silent_p.T200T|PPIL2_uc002zvg.3_Silent_p.T200T|PPIL2_uc011aij.1_Silent_p.T179T|PPIL2_uc002zvk.3_5'Flank	p.T200T	NM_148175	NP_680480	Q13356	PPIL2_HUMAN			10	716	+	Colorectal(54;0.105)		200			Potential.			Silent	SNP	ENST00000335025.8	37	c.600A>T	CCDS13793.1																																																																																				PASS	0.542	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			9	51	9	51	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422777	26422777	+	Silent	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr22:26422777C>T	ENST00000407587.2	+	43	7009	c.6840C>T	c.(6838-6840)ccC>ccT	p.P2280P	MYO18B_ENST00000335473.7_Silent_p.P2279P|MYO18B_ENST00000536101.1_Silent_p.P2279P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2279						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P2280P(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACTCTCCCCATTTACCAGA	0.642																																						uc003abz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6835-6837)CCC>CCT		myosin XVIIIB							16.0	19.0	18.0					22																	26422777		1890	4104	5994	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422777C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6840C>T	22.37:g.26422777C>T						MYO18B_uc003aca.1_Silent_p.P2160P|MYO18B_uc010guy.1_Silent_p.P2161P|MYO18B_uc010guz.1_Silent_p.P2159P|MYO18B_uc011aka.1_Silent_p.P1433P|MYO18B_uc011akb.1_Silent_p.P1792P|MYO18B_uc010gva.1_Silent_p.P262P|MYO18B_uc010gvb.1_RNA	p.P2279P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7087	+			2279					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6837C>T		.	.	.	.	.	.	.	.	.	.	C	7.127	0.579086	0.13686	.	.	ENSG00000133454	ENST00000543971	T	0.26810	1.71	4.67	4.67	0.58626	.	0.000000	0.49305	D	0.000145	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29150	-1.0021	7	0.87932	D	0	.	9.8986	0.41334	0.0:0.9041:0.0:0.0959	.	.	.	.	L	229	ENSP00000444262:P229L	ENSP00000444262:P229L	P	+	2	0	MYO18B	24752777	1.000000	0.71417	0.999000	0.59377	0.638000	0.38207	0.916000	0.28651	2.152000	0.67230	0.313000	0.20887	CCA		PASS	0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	11	6	11	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31924738	31924738	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr22:31924738C>G	ENST00000400288.2	+	3	260	c.155C>G	c.(154-156)tCt>tGt	p.S52C	SFI1_ENST00000443326.1_Intron|SFI1_ENST00000540643.1_Missense_Mutation_p.S52C|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000432498.1_Missense_Mutation_p.S52C|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	52					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S52C(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AACAAGAAGTCTTCTGCATCC	0.443																																						uc003ale.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(154-156)TCT>TGT		spindle assembly associated Sfi1 homolog isoform							132.0	123.0	126.0					22																	31924738		1930	4148	6078	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31924738C>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.155C>G	22.37:g.31924738C>G	ENSP00000383145:p.Ser52Cys					SFI1_uc003ald.1_Missense_Mutation_p.S52C|SFI1_uc003alf.2_Missense_Mutation_p.S52C|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Missense_Mutation_p.S52C|SFI1_uc003alh.2_Intron	p.S52C	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			3	548	+			52					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.155C>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056802	0.36277	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000421060;ENST00000444859;ENST00000400288;ENST00000450787	T;T;T;T;T	0.39592	2.75;2.76;1.07;2.75;1.64	4.06	2.99	0.34606	.	0.626869	0.14395	N	0.322272	T	0.22126	0.0533	N	0.08118	0	0.58432	D	0.999991	B;B;B;B	0.14012	0.009;0.009;0.003;0.001	B;B;B;B	0.16289	0.015;0.015;0.004;0.003	T	0.05084	-1.0907	10	0.34782	T	0.22	.	8.8703	0.35311	0.223:0.777:0.0:0.0	.	52;52;52;52	A8K8P3-9;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;SFI1_HUMAN;.	C	52;52;52;52;52;3	ENSP00000402679:S52C;ENSP00000443025:S52C;ENSP00000411793:S52C;ENSP00000383145:S52C;ENSP00000389364:S3C	ENSP00000383145:S52C	S	+	2	0	SFI1	30254738	0.011000	0.17503	0.703000	0.30354	0.982000	0.71751	0.215000	0.17562	1.227000	0.43598	0.585000	0.79938	TCT		PASS	0.443	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		14	77	14	77	---	---	---	---
ST13	6767	broad.mit.edu	37	22	41223120	41223120	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr22:41223120C>G	ENST00000216218.3	-	11	1442	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	321	STI1.				chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)	p.E321Q(1)		cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						GCAAGAACCTCTGGATCACTA	0.453																																						uc003aze.2																			1	Substitution - Missense(1)		lung(1)		0						c.(961-963)GAG>CAG		heat shock 70kD protein binding protein							78.0	81.0	80.0					22																	41223120		2203	4300	6503	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41223120C>G		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.961G>C	22.37:g.41223120C>G	ENSP00000216218:p.Glu321Gln					ST13_uc011aow.1_Missense_Mutation_p.E311Q	p.E321Q	NM_003932	NP_003923	P50502	F10A1_HUMAN			11	1104	-			321			STI1.		O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.961G>C	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992957	0.74703	.	.	ENSG00000100380	ENST00000216218	T	0.57273	0.41	5.39	5.39	0.77823	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	T	0.79685	-0.1700	10	0.49607	T	0.09	.	19.1539	0.93503	0.0:1.0:0.0:0.0	.	311;321	B4E0U6;P50502	.;F10A1_HUMAN	Q	321	ENSP00000216218:E321Q	ENSP00000216218:E321Q	E	-	1	0	ST13	39553066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	2.538000	0.85594	0.555000	0.69702	GAG		PASS	0.453	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		7	62	7	62	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42042926	42042926	+	Missense_Mutation	SNP	T	T	C	rs369020045		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr22:42042926T>C	ENST00000359308.4	+	6	1455	c.800T>C	c.(799-801)aTa>aCa	p.I267T	XRCC6_ENST00000405878.1_Missense_Mutation_p.I267T|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000360079.3_Missense_Mutation_p.I267T|XRCC6_ENST00000405506.1_Missense_Mutation_p.I217T|XRCC6_ENST00000428575.2_Missense_Mutation_p.I134T|XRCC6_ENST00000402580.3_Missense_Mutation_p.I226T			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	267	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.I267T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AACAAAGATATAGTGATCTCT	0.398								Non-homologous end-joining																														uc003bao.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(799-801)ATA>ACA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit		T	THR/ILE	0,4406		0,0,2203	99.0	110.0	106.0		800	1.7	0.1	22		106	1,8597	1.2+/-3.3	0,1,4298	no	missense	XRCC6	NM_001469.3	89	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	benign	267/610	42042926	1,13003	2203	4299	6502	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42042926T>C	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.800T>C	22.37:g.42042926T>C	ENSP00000352257:p.Ile267Thr					XRCC6_uc003bap.1_Missense_Mutation_p.I226T|XRCC6_uc011apc.1_Missense_Mutation_p.I217T|XRCC6_uc003baq.1_Missense_Mutation_p.I267T|XRCC6_uc003bar.1_Missense_Mutation_p.I267T|XRCC6_uc003bas.1_Missense_Mutation_p.I217T	p.I267T	NM_001469	NP_001460	P12956	XRCC6_HUMAN			7	870	+			267			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.800T>C	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	T	9.578	1.122712	0.20877	0.0	1.16E-4	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	4.97	1.67	0.24075	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (1);	0.856536	0.10455	N	0.672681	T	0.43567	0.1253	L	0.36672	1.1	0.09310	N	0.999997	B;B;B;B	0.12630	0.003;0.001;0.002;0.006	B;B;B;B	0.36885	0.235;0.131;0.004;0.232	T	0.50101	-0.8867	9	0.38643	T	0.18	-0.5553	8.8901	0.35427	0.0:0.2167:0.0:0.7833	.	217;267;226;267	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	T	267;226;134;267;267;267;217	.	ENSP00000352257:I267T	I	+	2	0	XRCC6	40372872	0.974000	0.33945	0.067000	0.19924	0.437000	0.31866	3.036000	0.49767	0.034000	0.15491	0.533000	0.62120	ATA		PASS	0.398	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		31	149	31	149	---	---	---	---
PIM3	415116	broad.mit.edu	37	22	50356677	50356677	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr22:50356677G>T	ENST00000360612.4	+	6	1318	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	295					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G295W(1)					all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGATGCTGGGGGCTGACGG	0.687																																						uc003bjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)GGG>TGG		serine/threonine protein kinase pim-3							19.0	23.0	22.0					22																	50356677		2196	4297	6493	SO:0001583	missense	415116				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:50356677G>T	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.883G>T	22.37:g.50356677G>T	ENSP00000353824:p.Gly295Trp					PIM3_uc011arj.1_Missense_Mutation_p.G58W	p.G295W	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	6	1336	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	295					A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP	ENST00000360612.4	37	c.883G>T	CCDS33678.1	.	.	.	.	.	.	.	.	.	.	g	12.96	2.094332	0.36952	.	.	ENSG00000198355	ENST00000360612	T	0.22945	1.93	4.17	1.9	0.25705	Protein kinase-like domain (1);	1.079080	0.07148	U	0.848501	T	0.18635	0.0447	N	0.08118	0	0.09310	N	0.999995	D	0.55385	0.971	P	0.51193	0.662	T	0.16188	-1.0411	10	0.72032	D	0.01	.	3.466	0.07550	0.3344:0.2241:0.4415:0.0	.	295	Q86V86	PIM3_HUMAN	W	295	ENSP00000353824:G295W	ENSP00000353824:G295W	G	+	1	0	PIM3	48742681	0.928000	0.31464	0.748000	0.31131	0.044000	0.14063	1.929000	0.40114	0.956000	0.37904	0.506000	0.49869	GGG		PASS	0.687	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852		7	13	7	13	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2161142	2161142	+	Silent	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:2161142C>A	ENST00000334651.5	-	6	778	c.726G>T	c.(724-726)gtG>gtT	p.V242V		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	242							oxidoreductase activity (GO:0016491)	p.V242V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCGTGTTGACCACCCCGGGGT	0.622																																						uc004cqf.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)GTG>GTT		dehydrogenase/reductase (SDR family) X-linked							109.0	101.0	104.0					X																	2161142		2203	4296	6499	SO:0001819	synonymous_variant	207063						binding|oxidoreductase activity	g.chrX:2161142C>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.726G>T	X.37:g.2161142C>A							p.V242V	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			6	775	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	242					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	c.726G>T	CCDS35195.1																																																																																				PASS	0.622	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		11	36	11	36	---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13645160	13645160	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:13645160T>A	ENST00000361306.1	+	11	1573	c.1316T>A	c.(1315-1317)tTg>tAg	p.L439*	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Nonsense_Mutation_p.L440*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	439	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.L439*(1)|p.L440*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GTTCCGGCCTTGGCAGGTCAC	0.433																																						uc004cvi.2																			2	Substitution - Nonsense(2)		lung(2)	breast(2)	2						c.(1315-1317)TTG>TAG		epidermal growth factor-like protein 6							79.0	83.0	82.0					X																	13645160		2203	4300	6503	SO:0001587	stop_gained	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13645160T>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1316T>A	X.37:g.13645160T>A	ENSP00000355126:p.Leu439*					EGFL6_uc004cvj.2_Nonsense_Mutation_p.L440*	p.L439*	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			11	1556	+			439			MAM.		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Nonsense_Mutation	SNP	ENST00000361306.1	37	c.1316T>A	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665588	0.88251	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	.	.	.	5.0	2.61	0.31194	.	0.458215	0.23602	N	0.046426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	4.6229	0.12463	0.0:0.1675:0.1786:0.6539	.	.	.	.	X	439;440	.	ENSP00000355126:L439X	L	+	2	0	EGFL6	13555081	0.998000	0.40836	0.028000	0.17463	0.555000	0.35460	1.657000	0.37366	0.574000	0.29417	-0.371000	0.07208	TTG		PASS	0.433	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		31	24	31	24	---	---	---	---
FUNDC1	139341	broad.mit.edu	37	X	44383470	44383470	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:44383470C>T	ENST00000378045.4	-	5	610	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	148					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)		p.G148S(1)		breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGCAAAAAGCCTCCCACAAAT	0.383																																						uc004dgc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GGC>AGC		FUN14 domain containing 1							120.0	106.0	111.0					X																	44383470		2203	4300	6503	SO:0001583	missense	139341							g.chrX:44383470C>T	BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.442G>A	X.37:g.44383470C>T	ENSP00000367284:p.Gly148Ser						p.G148S	NM_173794	NP_776155	Q8IVP5	FUND1_HUMAN			5	585	-			148						Missense_Mutation	SNP	ENST00000378045.4	37	c.442G>A	CCDS14263.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175719	0.78564	.	.	ENSG00000069509	ENST00000378045	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90694	0.4615	9	0.87932	D	0	-8.0946	19.2351	0.93855	0.0:1.0:0.0:0.0	.	148	Q8IVP5	FUND1_HUMAN	S	148	.	ENSP00000367284:G148S	G	-	1	0	FUNDC1	44268414	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.034000	0.76511	2.493000	0.84123	0.600000	0.82982	GGC		PASS	0.383	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056320.1	NM_173794		7	16	7	16	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65423336	65423336	+	Silent	SNP	T	T	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:65423336T>C	ENST00000343002.2	+	12	2872	c.2208T>C	c.(2206-2208)taT>taC	p.Y736Y	HEPH_ENST00000336279.5_Silent_p.Y469Y|HEPH_ENST00000374727.3_Silent_p.Y739Y|HEPH_ENST00000419594.1_Silent_p.Y547Y|HEPH_ENST00000519389.1_Silent_p.Y790Y|HEPH_ENST00000441993.2_Silent_p.Y739Y			Q9BQS7	HEPH_HUMAN	hephaestin	736	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.Y736Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAATCTACTATATCATGGCAG	0.527																																						uc011moz.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)	9						c.(2215-2217)TAT>TAC		hephaestin isoform a							93.0	73.0	80.0					X																	65423336		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65423336T>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2208T>C	X.37:g.65423336T>C						HEPH_uc004dwn.2_Silent_p.Y739Y|HEPH_uc004dwo.2_Silent_p.Y469Y|HEPH_uc010nkr.2_Silent_p.Y547Y|HEPH_uc011mpa.1_Silent_p.Y739Y|HEPH_uc010nks.2_Silent_p.Y28Y	p.Y739Y	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			13	2277	+			736			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2217T>C																																																																																					PASS	0.527	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		6	12	6	12	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73045917	73045917	+	lincRNA	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:73045917A>T	ENST00000604411.1	+	0	33878				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CATAACCATCACTAGAAATCC	0.502																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							157.0	140.0	145.0					X																	73045917		876	1991	2867			9383							g.chrX:73045917A>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045917A>T						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.33878A>T																																																																																					PASS	0.502	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		28	46	28	46	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83129612	83129612	+	Silent	SNP	A	A	T			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:83129612A>T	ENST00000329312.4	+	4	1933	c.1896A>T	c.(1894-1896)ccA>ccT	p.P632P		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	632	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P632P(1)|p.P631P(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGCCTCCTCCACCTCCAAAAC	0.393																																						uc004eei.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(1894-1896)CCA>CCT		cylicin, basic protein of sperm head							66.0	56.0	60.0					X																	83129612		2203	4298	6501	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129612A>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1896A>T	X.37:g.83129612A>T						CYLC1_uc004eeh.1_Silent_p.P631P	p.P632P	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	1917	+			632			Pro-rich.		A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.1896A>T	CCDS35341.1																																																																																				PASS	0.393	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		12	6	12	6	---	---	---	---
SATL1	340562	broad.mit.edu	37	X	84363064	84363064	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:84363064G>C	ENST00000395409.3	-	1	910	c.350C>G	c.(349-351)tCa>tGa	p.S117*	SATL1_ENST00000332921.5_Nonsense_Mutation_p.S117*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.S304*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	117	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.S304*(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTGTACCTGATTGCCTCAT	0.478																																						uc011mqx.1																			1	Substitution - Nonsense(1)		lung(1)	breast(2)	2						c.(910-912)TCA>TGA		spermidine/spermine N1-acetyl transferase-like 1							196.0	140.0	159.0					X																	84363064		2203	4300	6503	SO:0001587	stop_gained	340562						N-acetyltransferase activity	g.chrX:84363064G>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.350C>G	X.37:g.84363064G>C	ENSP00000378804:p.Ser117*					SATL1_uc004een.2_Nonsense_Mutation_p.S304*	p.S304*	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	911	-			117			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	37	c.911C>G		.	.	.	.	.	.	.	.	.	.	G	37	6.270821	0.97431	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	3.14	-2.3	0.06785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-2.0971	3.9483	0.09358	0.4913:0.0:0.3432:0.1655	.	.	.	.	X	117;117;304	.	ENSP00000329115:S117X	S	-	2	0	SATL1	84249720	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.992000	0.03724	-0.725000	0.04901	0.529000	0.55759	TCA		PASS	0.478	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		10	17	10	17	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797503	148797503	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:148797503C>A	ENST00000355220.5	+	5	459	c.357C>A	c.(355-357)caC>caA	p.H119Q	MAGEA11_ENST00000333104.4_Missense_Mutation_p.H90Q	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	119						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H119Q(1)		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)					GAAGTCAGCACTGCAAGCCTG	0.587																																						uc004fdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(355-357)CAC>CAA		melanoma antigen family A, 11 isoform a							61.0	60.0	60.0					X																	148797503		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797503C>A		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.357C>A	X.37:g.148797503C>A	ENSP00000347358:p.His119Gln					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.H90Q	p.H119Q	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	459	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		119					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.357C>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	7.059	0.566066	0.13560	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04603	3.59;3.59;3.59	0.651	0.651	0.17817	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.17280	0.0415	M	0.86178	2.8	0.09310	N	1	D;D	0.58970	0.981;0.984	P;D	0.65140	0.888;0.932	T	0.11567	-1.0582	8	0.24483	T	0.36	.	.	.	.	.	90;119	G5E962;P43364	.;MAGAB_HUMAN	Q	90;90;119	ENSP00000391496:H90Q;ENSP00000328177:H90Q;ENSP00000347358:H119Q	ENSP00000328177:H90Q	H	+	3	2	MAGEA11	148576902	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.012000	0.13287	0.575000	0.29434	0.429000	0.28392	CAC		PASS	0.587	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		15	36	15	36	---	---	---	---
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	IGR	INS	-	-	CC	rs555281269|rs112237068	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr3:21447901_21447902insCC								AC104183.1 (17792 upstream) : RP11-180N14.1 (5811 downstream)																							CTGGCATACCACCCCCCACGCC	0.663														2183	0.435903	0.5038	0.3141	5008	,	,		12635	0.3998		0.503	False		,,,				2504	0.3988					uc003ccd.2																			0					0								Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA.																																				SO:0001628	intergenic_variant	391518							g.chr3:21447901_21447902insCC																													3.37:g.21447906_21447907dupCC								NR_002311						1		+									RNA	INS		37	c.684_685insCC																																																																																				0		0.663									3	3	3	3	---	---	---	---
LINC00847	729678	broad.mit.edu	37	5	180261938	180261939	+	lincRNA	DEL	CT	CT	-	rs61632263		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr5:180261938_180261939delCT	ENST00000501855.2	+	0	1083_1084					NR_027183.2|NR_045678.1				long intergenic non-protein coding RNA 847																		caaaagcttgctctctctctct	0.465																																						uc011dhd.1																			0					0								Homo sapiens cDNA FLJ37851 fis, clone BRSSN2014294.																																						729678							g.chr5:180261938_180261939delCT	AK095170		5q35.3	2013-01-31			ENSG00000245060	ENSG00000245060		"""Long non-coding RNAs"""	45050	non-coding RNA	RNA, long non-coding							Standard	NR_027183		Approved		uc011dhd.3		OTTHUMG00000162270		5.37:g.180261948_180261949delCT						LOC729678_uc010jlj.2_RNA|LOC729678_uc003mmk.3_RNA|LOC729678_uc003mml.3_RNA		NR_027183						3		+									RNA	DEL	ENST00000501855.2	37	c.2104_2105delCT																																																																																						0.465	LINC00847-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000368344.1	NR_027183		4	2	4	2	---	---	---	---
LINC00842	643650	broad.mit.edu	37	10	47012503	47012503	+	IGR	DEL	G	G	-	rs554472134		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:47012503delG								GPRIN2 (6860 upstream) : NPY4R (71030 downstream)																							acacctctctgggcttagtcc	0.527																																						uc001jed.3																			0				central_nervous_system(3)	3								Homo sapiens cDNA FLJ58071 complete cds, highly similar to Annexin A8.																																				SO:0001628	intergenic_variant	653145				blood coagulation		calcium ion binding|calcium-dependent phospholipid binding	g.chr10:47012503delG																													10.37:g.47012503delG										P13928	ANXA8_HUMAN			4		-									RNA	DEL		37	c.1054delC																																																																																				0		0.527									5	4	5	4	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89711960	89711960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr10:89711960delT	ENST00000371953.3	+	6	1935	c.578delT	c.(577-579)ctgfs	p.L194fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	194	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.L193P(1)|p.V191fs*7(1)|p.L193del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAGTGGCACTGTTGTTTCAC	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		55	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Deletion - In frame(2)|Substitution - Missense(1)	p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.V191fs*7(1)|p.L193P(1)|p.L193del(1)	central_nervous_system(16)|prostate(16)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(577-579)CTGfs		phosphatase and tensin homolog							154.0	152.0	153.0					10																	89711960		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711960delT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.578delT	10.37:g.89711960delT	ENSP00000361021:p.Leu194fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L193fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1609	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	193			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.578delT	CCDS31238.1																																																																																					0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		90	41	90	41	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	102029111	102029111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr13:102029111delA	ENST00000251127.6	-	6	665	c.584delT	c.(583-585)ttafs	p.L195fs	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Frame_Shift_Del_p.L195fs|NALCN_ENST00000376196.3_Frame_Shift_Del_p.L195fs	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	195					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGAACTCCTAAAATTCCATA	0.318																																						uc001vox.1																			0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(583-585)TTAfs		voltage gated channel like 1							108.0	122.0	117.0					13																	102029111		2203	4299	6502	SO:0001589	frameshift_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029111delA	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.584delT	13.37:g.102029111delA	ENSP00000251127:p.Leu195fs					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Frame_Shift_Del_p.L195fs|NALCN_uc001vpa.2_Frame_Shift_Del_p.L195fs	p.L195fs	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			6	773	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		195			Helical; Name=S5 of repeat I; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Frame_Shift_Del	DEL	ENST00000251127.6	37	c.584delT	CCDS9498.1																																																																																					0.318	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		108	50	108	50	---	---	---	---
RPL13AP3	645683	broad.mit.edu	37	14	56233989	56233990	+	lincRNA	INS	-	-	A	rs202007014		TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr14:56233989_56233990insA	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							TACTTTTAAAGAAAAAAAAaac	0.391																																						uc010aos.2																			0					0								Homo sapiens ribosomal protein L13a pseudogene, mRNA (cDNA clone IMAGE:5271409).																																						645683							g.chr14:56233989_56233990insA																													14.37:g.56233999_56233999dupA								NR_004844						1		+									RNA	INS	ENST00000554458.1	37	c.1027_1028insA																																																																																						0.391	RP11-813I20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411474.1			4	2	4	2	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE|ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994					uc002cof.1																			1	Insertion - In frame(1)		kidney(1)	lung(1)|breast(1)	2						c.(1666-1668)GAC>GAGGAC		zinc finger protein 598																																				SO:0001652	inframe_insertion	90850					intracellular	zinc ion binding	g.chr16:2049882_2049883insTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup					ZNF598_uc002coe.1_5'UTR	p.555_556insE	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			11	1682_1683	-			555_556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	ENST00000563630.1	37	c.1667_1668insGGA																																																																																						0.703	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		6	8	6	8	---	---	---	---
MSL3	10943	broad.mit.edu	37	X	11782023	11782026	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-66-2788-01A-01D-0983-08	TCGA-66-2788-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2466d424-98bb-4380-9967-36abaa0e69d7	0671bcea-de4c-4838-843a-dc5ff4a99b70	g.chrX:11782023_11782026delCTTC	ENST00000312196.4	+	8	979_982	c.874_877delCTTC	c.(874-879)cttccafs	p.LP292fs	MSL3_ENST00000380693.3_Frame_Shift_Del_p.LP126fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.LP280fs|MSL3_ENST00000361672.2_Frame_Shift_Del_p.LP143fs|MSL3_ENST00000337339.2_Frame_Shift_Del_p.LP292fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	292	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TAAATTTTTTCTTCCAATTAAGGA	0.377																																						uc004cuw.2																			0				ovary(1)	1						c.(874-879)CTTCCAfs		male-specific lethal 3-like 1 isoform a																																				SO:0001589	frameshift_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11782023_11782026delCTTC	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.874_877delCTTC	X.37:g.11782023_11782026delCTTC	ENSP00000312244:p.Leu292fs					MSL3_uc004cuv.1_Frame_Shift_Del_p.L292fs|MSL3_uc004cux.2_Frame_Shift_Del_p.L233fs|MSL3_uc011mig.1_Frame_Shift_Del_p.L143fs|MSL3_uc011mih.1_Frame_Shift_Del_p.L280fs|MSL3_uc004cuy.2_Frame_Shift_Del_p.L126fs|MSL3_uc011mii.1_Frame_Shift_Del_p.L126fs	p.L292fs	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			8	979_982	+			292_293					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Frame_Shift_Del	DEL	ENST00000312196.4	37	c.874_877delCTTC	CCDS14147.1																																																																																					0.377	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		36	21	36	21	---	---	---	---
