#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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
UBE4B	10277	broad.mit.edu	37	1	10186932	10186932	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:10186932C>G	ENST00000253251.8	+	10	2087	c.1248C>G	c.(1246-1248)ctC>ctG	p.L416L	UBE4B_ENST00000343090.6_Silent_p.L545L|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000377157.3_Silent_p.L300L					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AATACCCCCTCATGGTAAAAC	0.343																																						uc001aqs.3		NaN																	0				ovary(2)|skin(2)	4						c.(1633-1635)CTC>CTG		ubiquitination factor E4B isoform 1							94.0	95.0	95.0					1																	10186932		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10186932C>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1248C>G	1.37:g.10186932C>G						UBE4B_uc001aqr.3_Silent_p.L416L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	p.L545L	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	11	2348	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	545						Silent	SNP	ENST00000253251.8	37	c.1635C>G	CCDS110.1																																																																																				0.343	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1		NM_006048		12	48	0	0	0	0.013537	0	12	48		
MTOR	2475	broad.mit.edu	37	1	11297958	11297958	+	Missense_Mutation	SNP	C	C	T	rs566273004		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:11297958C>T	ENST00000361445.4	-	13	2226	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	717					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.R717L(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)	GCTACTGAGTCGGCCCACAGT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19541	0.001		0.0	False		,,,				2504	0.0					uc001asd.2		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2149-2151)CGA>CAA		FK506 binding protein 12-rapamycin associated							92.0	76.0	81.0					1																	11297958		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11297958C>T	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.2150G>A	1.37:g.11297958C>T	ENSP00000354558:p.Arg717Gln						p.R717Q	NM_004958	NP_004949	P42345	MTOR_HUMAN			13	2271	-			717					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2150G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652439	0.96724	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.33438	1.41	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.77895	-0.2417	10	0.87932	D	0	-2.5478	19.8344	0.96650	0.0:1.0:0.0:0.0	.	717	P42345	MTOR_HUMAN	Q	717	ENSP00000354558:R717Q	ENSP00000354558:R717Q	R	-	2	0	MTOR	11220545	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.395000	0.79876	2.696000	0.92011	0.561000	0.74099	CGA		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958		25	57	0	0	0	0.005443	0	25	57		
VPS13D	55187	broad.mit.edu	37	1	12317111	12317111	+	Missense_Mutation	SNP	G	G	A	rs200526345		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:12317111G>A	ENST00000358136.3	+	9	1038	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R303Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGAAGTTCCGAAGGTGGAAA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		16208	0.0		0.001	False		,,,				2504	0.0					uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(907-909)CGA>CAA		vacuolar protein sorting 13D isoform 1							98.0	93.0	94.0					1																	12317111		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12317111G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.908G>A	1.37:g.12317111G>A	ENSP00000350854:p.Arg303Gln					VPS13D_uc001atw.2_Missense_Mutation_p.R303Q	p.R303Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	9	1049	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	303						Missense_Mutation	SNP	ENST00000358136.3	37	c.908G>A	CCDS30588.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.1	4.890347	0.91889	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.42513	0.97;0.97	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.61070	0.883;0.766	T	0.61686	-0.7012	10	0.59425	D	0.04	.	14.6546	0.68823	0.0688:0.0:0.9312:0.0	.	303;303	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	Q	303	ENSP00000348666:R303Q;ENSP00000350854:R303Q	ENSP00000348666:R303Q	R	+	2	0	VPS13D	12239698	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	6.980000	0.76160	1.636000	0.50526	-0.136000	0.14681	CGA		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		3	67	0	0	0	0.004672	0	3	67		
TMEM50A	23585	broad.mit.edu	37	1	25678163	25678163	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:25678163G>A	ENST00000374358.4	+	4	806	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	85						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TAGTTACAGTGAAGGTTGTCT	0.368																																						uc001bke.2		NaN																	0					0						c.(253-255)GAA>AAA		small membrane protein 1							172.0	161.0	165.0					1																	25678163		2203	4300	6503	SO:0001583	missense	23585					endoplasmic reticulum|integral to membrane		g.chr1:25678163G>A	AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.253G>A	1.37:g.25678163G>A	ENSP00000363478:p.Glu85Lys					TMEM50A_uc010oeq.1_Missense_Mutation_p.E85K|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA	p.E85K	NM_014313	NP_055128	O95807	TM50A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)	4	403	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	85						Missense_Mutation	SNP	ENST00000374358.4	37	c.253G>A	CCDS264.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279425	0.95489	.	.	ENSG00000183726	ENST00000374358	T	0.30448	1.53	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	M	0.66939	2.045	0.80722	D	1	P;P	0.39131	0.608;0.661	B;P	0.48982	0.363;0.597	T	0.13176	-1.0519	10	0.19147	T	0.46	.	18.291	0.90130	0.0:0.0:1.0:0.0	.	85;85	B7Z5M7;O95807	.;TM50A_HUMAN	K	85	ENSP00000363478:E85K	ENSP00000363478:E85K	E	+	1	0	TMEM50A	25550750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.873000	0.92357	2.663000	0.90544	0.645000	0.84053	GAA		0.368	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1				13	40	0	0	0	0.001855	0	13	40		
MAN1C1	57134	broad.mit.edu	37	1	26104650	26104650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:26104650G>A	ENST00000374332.4	+	9	1642	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	MAN1C1_ENST00000263979.3_Missense_Mutation_p.E258K|MAN1C1_ENST00000374329.1_Missense_Mutation_p.E209K	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	438					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CTACATTGCCGAGTGGCGAGG	0.627																																						uc001bkm.2		NaN																	0				skin(1)	1						c.(1312-1314)GAG>AAG		mannosidase, alpha, class 1C, member 1							38.0	42.0	41.0					1																	26104650		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26104650G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1312G>A	1.37:g.26104650G>A	ENSP00000363452:p.Glu438Lys					MAN1C1_uc009vry.1_Missense_Mutation_p.E258K|MAN1C1_uc001bkn.2_5'Flank	p.E438K	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	9	1642	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	438			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1312G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733166	0.89482	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.72282	-0.64;-0.64;-0.64	5.21	5.21	0.72293	.	0.153104	0.64402	D	0.000017	D	0.86243	0.5886	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87604	0.2499	10	0.62326	D	0.03	.	18.9545	0.92653	0.0:0.0:1.0:0.0	.	438	Q9NR34	MA1C1_HUMAN	K	438;258;258;209	ENSP00000363452:E438K;ENSP00000263979:E258K;ENSP00000363449:E209K	ENSP00000263979:E258K	E	+	1	0	MAN1C1	25977237	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.581000	0.98210	2.702000	0.92279	0.655000	0.94253	GAG		0.627	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3		NM_020379		4	62	0	0	0	0.001168	0	4	62		
TRIM63	84676	broad.mit.edu	37	1	26387813	26387813	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:26387813C>T	ENST00000374272.3	-	3	483	c.345G>A	c.(343-345)caG>caA	p.Q115Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	115	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGCCCTTCTGCAGCGGCC	0.577																																						uc001bli.1		NaN																	0				kidney(1)	1						c.(343-345)CAG>CAA		muscle specific ring finger protein 1							104.0	79.0	87.0					1																	26387813		2203	4300	6503	SO:0001819	synonymous_variant	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26387813C>T	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.345G>A	1.37:g.26387813C>T							p.Q115Q	NM_032588	NP_115977	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	481	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	115			Interaction with TTN.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	ENST00000374272.3	37	c.345G>A	CCDS273.1																																																																																				0.577	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1		NM_032588		3	66	0	0	0	0.009096	0	3	66		
ARID1A	8289	broad.mit.edu	37	1	27056160	27056160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:27056160C>T	ENST00000324856.7	+	2	1527	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q3*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q386*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	386					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAATGGATCAGATGGGCAA	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1156-1158)CAG>TAG		AT rich interactive domain 1A isoform a							102.0	106.0	105.0					1																	27056160		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27056160C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1156C>T	1.37:g.27056160C>T	ENSP00000320485:p.Gln386*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q386*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q3*	p.Q386*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	2	1529	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	386					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1156C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	38	6.642683	0.97730	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	6.16	6.16	0.99307	.	0.056112	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-7.2163	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	386;386;3;3	.	ENSP00000320485:Q386X	Q	+	1	0	ARID1A	26928747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.937000	0.99478	0.650000	0.86243	CAG		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		27	91	0	0	0	0.008361	0	27	91		
PUM1	9698	broad.mit.edu	37	1	31437555	31437555	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:31437555G>A	ENST00000257075.5	-	14	2382	c.2289C>T	c.(2287-2289)ctC>ctT	p.L763L	PUM1_ENST00000373747.3_Silent_p.L764L|PUM1_ENST00000440538.2_Silent_p.L737L|PUM1_ENST00000424085.2_Silent_p.L521L|PUM1_ENST00000373742.2_Silent_p.L704L|PUM1_ENST00000373741.4_Silent_p.L799L|PUM1_ENST00000423018.2_Silent_p.L619L|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000426105.2_Silent_p.L763L	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	763	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CATGTGAAGAGAGGGAAGGAG	0.493																																						uc001bsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2287-2289)CTC>CTT		pumilio 1 isoform 2							244.0	225.0	232.0					1																	31437555		2203	4300	6503	SO:0001819	synonymous_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31437555G>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2289C>T	1.37:g.31437555G>A						PUM1_uc001bsf.1_Silent_p.L429L|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.L763L|PUM1_uc001bsj.1_Silent_p.L737L|PUM1_uc010oga.1_Silent_p.L619L|PUM1_uc001bsk.1_Silent_p.L799L|PUM1_uc010ogb.1_Silent_p.L704L	p.L763L	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	14	2402	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	763			Ser-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Silent	SNP	ENST00000257075.5	37	c.2289C>T	CCDS338.1	.	.	.	.	.	.	.	.	.	.	G	4.639	0.118841	0.08881	.	.	ENSG00000134644	ENST00000498419	T	0.16897	2.31	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04229	-1.0967	7	0.18710	T	0.47	-6.5804	10.7891	0.46422	0.0:0.2811:0.5972:0.1217	.	.	.	.	F	475	ENSP00000433850:L475F	ENSP00000433850:L475F	L	-	1	0	PUM1	31210142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.955000	0.29188	2.813000	0.96785	0.655000	0.94253	CTC		0.493	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1				29	176	0	0	0	0.009535	0	29	176		
RLF	6018	broad.mit.edu	37	1	40701823	40701823	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:40701823A>G	ENST00000372771.4	+	8	1476	c.1449A>G	c.(1447-1449)ttA>ttG	p.L483L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	483					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACCAACTTTTAGGACAAGAAG	0.403																																						uc001cfc.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(1447-1449)TTA>TTG		rearranged L-myc fusion							60.0	62.0	61.0					1																	40701823		2203	4300	6503	SO:0001819	synonymous_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701823A>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1449A>G	1.37:g.40701823A>G						RLF_uc001cfd.3_Silent_p.L174L	p.L483L	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1480	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	483					Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	c.1449A>G	CCDS448.1																																																																																				0.403	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421		3	128	0	0	0	0.009096	0	3	128		
IL12RB2	3595	broad.mit.edu	37	1	67792462	67792462	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:67792462G>A	ENST00000262345.1	+	4	1049	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	IL12RB2_ENST00000544434.1_Missense_Mutation_p.E137K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.E137K|IL12RB2_ENST00000541374.1_Missense_Mutation_p.E137K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	137	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACAGAAGGGAGAACAGGGGAC	0.428																																						uc001ddu.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(409-411)GAA>AAA		interleukin 12 receptor, beta 2 precursor							97.0	94.0	95.0					1																	67792462		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67792462G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.409G>A	1.37:g.67792462G>A	ENSP00000262345:p.Glu137Lys					IL12RB2_uc010oqi.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqj.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqm.1_Missense_Mutation_p.E137K|IL12RB2_uc010oqn.1_RNA	p.E137K	NM_001559	NP_001550	Q99665	I12R2_HUMAN			4	1049	+			137			Extracellular (Potential).|Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.409G>A	CCDS638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.58|18.58	3.655112|3.655112	0.67472|0.67472	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434|ENST00000441640	T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1|.	5.71|5.71	4.8|4.8	0.61643|0.61643	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.354386|.	0.34314|.	N|.	0.004073|.	T|T	0.56529|0.56529	0.1991|0.1991	M|M	0.73598|0.73598	2.24|2.24	0.35920|0.35920	D|D	0.831738|0.831738	B;D;P;P|.	0.56287|.	0.394;0.975;0.818;0.896|.	B;P;B;P|.	0.48815|.	0.164;0.591;0.311;0.516|.	T|T	0.62053|0.62053	-0.6935|-0.6935	10|5	0.23302|.	T|.	0.38|.	-14.4018|-14.4018	10.8218|10.8218	0.46610|0.46610	0.0871:0.0:0.9129:0.0|0.0871:0.0:0.9129:0.0	.|.	137;137;137;137|.	B4DGA4;F5H7L6;Q99665-2;Q99665|.	.;.;.;I12R2_HUMAN|.	K|K	137|4	ENSP00000262345:E137K;ENSP00000360039:E137K;ENSP00000445276:E137K;ENSP00000442443:E137K|.	ENSP00000262345:E137K|.	E|R	+|+	1|2	0|0	IL12RB2|IL12RB2	67565050|67565050	0.698000|0.698000	0.27777|0.27777	0.972000|0.972000	0.41901|0.41901	0.676000|0.676000	0.39594|0.39594	0.897000|0.897000	0.28390|0.28390	1.415000|1.415000	0.47037|0.47037	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.428	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2		NM_001559		10	67	0	0	0	0.008291	0	10	67		
TTLL7	79739	broad.mit.edu	37	1	84403570	84403570	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:84403570G>C	ENST00000260505.8	-	8	1230	c.853C>G	c.(853-855)Caa>Gaa	p.Q285E	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	285	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACATCATGTTGATTTGCTTGA	0.373																																						uc001djc.2		NaN																	0				ovary(1)	1						c.(853-855)CAA>GAA		tubulin tyrosine ligase-like family, member 7							256.0	233.0	241.0					1																	84403570		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84403570G>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.853C>G	1.37:g.84403570G>C	ENSP00000260505:p.Gln285Glu					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	p.Q285E	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	8	1249	-			285			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.853C>G	CCDS690.2	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978716	0.34942	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.05139	3.49	5.85	1.05	0.20165	.	0.681105	0.15887	N	0.239738	T	0.01765	0.0056	N	0.20445	0.575	0.31672	N	0.644272	B	0.11235	0.004	B	0.18263	0.021	T	0.41502	-0.9505	10	0.59425	D	0.04	.	12.6096	0.56544	0.0:0.4051:0.4688:0.1261	.	285	Q6ZT98	TTLL7_HUMAN	E	285	ENSP00000260505:Q285E	ENSP00000260505:Q285E	Q	-	1	0	TTLL7	84176158	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	1.409000	0.34680	0.282000	0.22254	0.655000	0.94253	CAA		0.373	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1		NM_024686		8	100	0	0	0	0.00308	0	8	100		
LMO4	8543	broad.mit.edu	37	1	87797721	87797721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:87797721C>T	ENST00000370544.5	+	2	803	c.23C>T	c.(22-24)tCg>tTg	p.S8L	LMO4_ENST00000370542.1_Missense_Mutation_p.S8L|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	8					negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGCAGCAGCTCGCAGCCGCCC	0.637																																						uc001dmi.2		NaN																	0					0						c.(22-24)TCG>TTG		LIM domain only 4							24.0	29.0	27.0					1																	87797721		2177	4257	6434	SO:0001583	missense	8543				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr1:87797721C>T	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.23C>T	1.37:g.87797721C>T	ENSP00000359575:p.Ser8Leu					LMO4_uc001dmj.2_Missense_Mutation_p.S8L	p.S8L	NM_006769	NP_006760	P61968	LMO4_HUMAN		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)	2	803	+		Lung NSC(277;0.179)	8					D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	c.23C>T	CCDS713.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604781	0.66445	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	T;T	0.47177	0.85;0.85	5.57	5.57	0.84162	.	0.253696	0.42682	D	0.000675	T	0.28665	0.0710	L	0.36672	1.1	0.38616	D	0.951022	B	0.09022	0.002	B	0.04013	0.001	T	0.04509	-1.0946	10	0.36615	T	0.2	.	19.5493	0.95311	0.0:1.0:0.0:0.0	.	8	P61968	LMO4_HUMAN	L	8	ENSP00000359575:S8L;ENSP00000359573:S8L	ENSP00000359573:S8L	S	+	2	0	LMO4	87570309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.923000	0.56469	2.621000	0.88768	0.650000	0.86243	TCG		0.637	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2		NM_006769		6	53	0	0	0	0.00308	0	6	53		
PKN2	5586	broad.mit.edu	37	1	89290038	89290038	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:89290038G>A	ENST00000370521.3	+	18	2747	c.2388G>A	c.(2386-2388)gtG>gtA	p.V796V	PKN2_ENST00000370513.5_Silent_p.V748V|PKN2_ENST00000370505.3_Silent_p.V639V|PKN2_ENST00000544045.1_Silent_p.V470V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGGGCTTTGTGAAAATTGCTG	0.308																																						uc001dmn.2		NaN																	0				large_intestine(1)|lung(1)|skin(1)	3						c.(2386-2388)GTG>GTA		protein kinase N2							159.0	148.0	151.0					1																	89290038		1815	4079	5894	SO:0001819	synonymous_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89290038G>A	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2388G>A	1.37:g.89290038G>A						PKN2_uc010osp.1_Silent_p.V780V|PKN2_uc010osq.1_Silent_p.V639V|PKN2_uc009wcv.2_Silent_p.V748V|PKN2_uc010osr.1_Silent_p.V461V	p.V796V	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	18	2730	+		Lung NSC(277;0.123)	796			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Silent	SNP	ENST00000370521.3	37	c.2388G>A	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982384	0.18889	.	.	ENSG00000065243	ENST00000449189	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	T	0.64768	0.2628	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66031	-0.6024	4	.	.	.	.	16.3919	0.83543	0.0:0.0:0.8671:0.1329	.	.	.	.	K	4	.	.	E	+	1	0	PKN2	89062626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.008000	0.40893	1.481000	0.48307	0.591000	0.81541	GAA		0.308	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3		NM_006256		8	54	0	0	0	0.004482	0	8	54		
ARHGAP29	9411	broad.mit.edu	37	1	94639451	94639451	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:94639451C>T	ENST00000260526.6	-	23	3942	c.3760G>A	c.(3760-3762)Gaa>Aaa	p.E1254K	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1254					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTCACCTTCGAGGTCTTCA	0.398																																						uc001dqj.3		NaN																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(3760-3762)GAA>AAA		PTPL1-associated RhoGAP 1							138.0	135.0	136.0					1																	94639451		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94639451C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3760G>A	1.37:g.94639451C>T	ENSP00000260526:p.Glu1254Lys					ARHGAP29_uc009wdq.1_Intron	p.E1254K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	4129	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1254					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.3760G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909324	0.92107	.	.	ENSG00000137962	ENST00000260526	T	0.38077	1.16	5.66	4.74	0.60224	.	0.000000	0.39759	N	0.001267	T	0.38983	0.1061	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	P	0.56216	0.794	T	0.26780	-1.0093	10	0.87932	D	0	-27.8173	15.0023	0.71483	0.0:0.9304:0.0:0.0696	.	1254	Q52LW3	RHG29_HUMAN	K	1254	ENSP00000260526:E1254K	ENSP00000260526:E1254K	E	-	1	0	ARHGAP29	94412039	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.944000	0.63561	2.672000	0.90937	0.591000	0.81541	GAA		0.398	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2		NM_004815		13	106	0	0	0	0.001855	0	13	106		
S1PR1	1901	broad.mit.edu	37	1	101705115	101705115	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:101705115C>G	ENST00000305352.6	+	2	950	c.575C>G	c.(574-576)tCc>tGc	p.S192C		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	192					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCCAGCTGCTCCACCGTGCTG	0.567											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dud.2		NaN																	0				ovary(2)|lung(1)	3						c.(574-576)TCC>TGC		sphingosine-1-phosphate receptor 1							129.0	118.0	121.0					1																	101705115		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705115C>G	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.575C>G	1.37:g.101705115C>G	ENSP00000305416:p.Ser192Cys		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Missense_Mutation_p.S192C	p.S192C	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1089	+			192			Extracellular (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.575C>G	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268050	0.80469	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.38887	1.11	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77275	-0.2648	10	0.87932	D	0	.	18.9864	0.92771	0.0:1.0:0.0:0.0	.	192	P21453	S1PR1_HUMAN	C	192	ENSP00000305416:S192C	ENSP00000305416:S192C	S	+	2	0	S1PR1	101477703	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.476000	0.83614	0.455000	0.32223	TCC		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1		NM_001400		36	76	0	0	0	0.003271	0	36	76		
KCNC4	3749	broad.mit.edu	37	1	110765682	110765682	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:110765682G>C	ENST00000369787.3	+	2	802	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.E259Q|KCNC4_ENST00000413138.3_Missense_Mutation_p.E259Q	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	259					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E259K(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACGTGACAGAGATCCTCCG	0.552																																						uc001dzh.2		NaN																	1	Substitution - Missense(1)		skin(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(775-777)GAG>CAG		Shaw-related voltage-gated potassium channel							216.0	177.0	190.0					1																	110765682		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765682G>C	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.775G>C	1.37:g.110765682G>C	ENSP00000358802:p.Glu259Gln					KCNC4_uc001dzf.2_Missense_Mutation_p.E259Q|KCNC4_uc009wfr.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzg.2_Missense_Mutation_p.E259Q|KCNC4_uc001dzi.2_RNA	p.E259Q	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	832	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	259					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.775G>C	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680607	0.29872	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97529	-4.42;-4.42;-4.42	4.75	4.75	0.60458	.	1.518790	0.03764	N	0.258584	D	0.97346	0.9132	L	0.45470	1.425	0.46356	D	0.999003	P;B;D	0.59357	0.93;0.024;0.985	B;B;D	0.65573	0.36;0.061;0.936	D	0.91973	0.5588	10	0.23891	T	0.37	.	18.0919	0.89478	0.0:0.0:1.0:0.0	.	259;259;259	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	Q	259	ENSP00000358802:E259Q;ENSP00000388029:E259Q;ENSP00000393655:E259Q	ENSP00000358802:E259Q	E	+	1	0	KCNC4	110567205	1.000000	0.71417	0.997000	0.53966	0.592000	0.36648	6.776000	0.75023	2.342000	0.79632	0.462000	0.41574	GAG		0.552	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2		NM_001039574		21	129	0	0	0	0.010504	0	21	129		
PDE4DIP	9659	broad.mit.edu	37	1	144864265	144864265	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:144864265G>C	ENST00000369354.3	-	36	6019	c.5830C>G	c.(5830-5832)Caa>Gaa	p.Q1944E	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2029E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1838E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2080E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1944E|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1944					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)			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)		TCCAGCTCTTGAAGGTGGGAT	0.527			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5830-5832)CAA>GAA		phosphodiesterase 4D interacting protein isoform							143.0	153.0	150.0					1																	144864265		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144864265G>C	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.5830C>G	1.37:g.144864265G>C	ENSP00000358360:p.Gln1944Glu					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_Missense_Mutation_p.Q1838E|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q951E|PDE4DIP_uc001ema.2_Missense_Mutation_p.Q131E	p.Q1944E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	36	6121	-			1944			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5830C>G	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.60|16.60	3.167514|3.167514	0.57476|0.57476	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01272	.|5.07;5.2;5.2;5.15;5.18	4.52|4.52	3.6|3.6	0.41247|0.41247	.|.	.|.	.|.	.|.	.|.	T|T	0.00936|0.00936	0.0031|0.0031	N|N	0.20574|0.20574	0.59|0.59	0.80722|0.80722	D|D	1|1	.|B;D	.|0.56287	.|0.373;0.975	.|B;D	.|0.67103	.|0.117;0.949	T|T	0.67581|0.67581	-0.5634|-0.5634	5|9	.|0.13108	.|T	.|0.6	.|.	5.6963|5.6963	0.17857|0.17857	0.0998:0.0:0.707:0.1932|0.0998:0.0:0.707:0.1932	.|.	.|1838;1944	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	L|E	100|1838;1944;1944;2029;2080	.|ENSP00000327209:Q1838E;ENSP00000358360:Q1944E;ENSP00000358363:Q1944E;ENSP00000435654:Q2029E;ENSP00000358366:Q2080E	.|ENSP00000327209:Q1838E	F|Q	-|-	3|1	2|0	PDE4DIP|PDE4DIP	143575622|143575622	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.840000|0.840000	0.47671|0.47671	5.231000|5.231000	0.65327|0.65327	1.264000|1.264000	0.44198|0.44198	0.650000|0.650000	0.86243|0.86243	TTC|CAA		0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		12	303	0	0	0	0.001855	0	12	303		
LINGO4	339398	broad.mit.edu	37	1	151773402	151773402	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:151773402G>C	ENST00000368820.3	-	2	2716	c.1779C>G	c.(1777-1779)ttC>ttG	p.F593L	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	593						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAAGGTCAGAAGAGCTTGG	0.547																																						uc001ezf.1		NaN																	0				large_intestine(1)	1						c.(1777-1779)TTC>TTG		leucine rich repeat and Ig domain containing 4							46.0	49.0	48.0					1																	151773402		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151773402G>C		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1779C>G	1.37:g.151773402G>C	ENSP00000357810:p.Phe593Leu						p.F593L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1969	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		593			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000368820.3	37	c.1779C>G	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245523	0.22796	.	.	ENSG00000213171	ENST00000368820	T	0.57273	0.41	5.32	5.32	0.75619	.	0.000000	0.50627	D	0.000114	T	0.17066	0.0410	N	0.08118	0	0.34004	D	0.650647	B	0.17667	0.023	B	0.14023	0.01	T	0.06607	-1.0817	10	0.48119	T	0.1	.	9.8267	0.40916	0.0901:0.0:0.9099:0.0	.	593	Q6UY18	LIGO4_HUMAN	L	593	ENSP00000357810:F593L	ENSP00000357810:F593L	F	-	3	2	LINGO4	150040026	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.945000	0.40273	2.760000	0.94817	0.655000	0.94253	TTC		0.547	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1		XM_291387		17	59	0	0	0	0.004007	0	17	59		
LINGO4	339398	broad.mit.edu	37	1	151774212	151774212	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:151774212C>T	ENST00000368820.3	-	2	1906	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	323						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAGGCAGTCAAGCCATGGA	0.597																																						uc001ezf.1		NaN																	0				large_intestine(1)	1						c.(967-969)TTG>TTA		leucine rich repeat and Ig domain containing 4							90.0	85.0	86.0					1																	151774212		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774212C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.969G>A	1.37:g.151774212C>T							p.L323L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1159	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		323			Extracellular (Potential).			Silent	SNP	ENST00000368820.3	37	c.969G>A	CCDS30855.1																																																																																				0.597	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1		XM_291387		13	71	0	0	0	0.013537	0	13	71		
LCE3A	353142	broad.mit.edu	37	1	152595518	152595518	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:152595518G>T	ENST00000335674.1	-	1	61	c.62C>A	c.(61-63)cCa>cAa	p.P21Q		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	21					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTGTGCTGGGCTCTTTGC	0.632																																						uc010pdt.1		NaN																	0					0						c.(61-63)CCA>CAA		late cornified envelope 3A							61.0	63.0	62.0					1																	152595518		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595518G>T		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.62C>A	1.37:g.152595518G>T	ENSP00000335006:p.Pro21Gln						p.P21Q	NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	62	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		21						Missense_Mutation	SNP	ENST00000335674.1	37	c.62C>A	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	G	3.672	-0.067297	0.07273	.	.	ENSG00000185962	ENST00000335674	T	0.04156	3.69	3.58	3.58	0.41010	.	.	.	.	.	T	0.09862	0.0242	.	.	.	0.26726	N	0.970678	D	0.89917	1.0	D	0.91635	0.999	T	0.03576	-1.1023	8	0.66056	D	0.02	.	10.8729	0.46894	0.0:0.0:1.0:0.0	.	21	Q5TA76	LCE3A_HUMAN	Q	21	ENSP00000335006:P21Q	ENSP00000335006:P21Q	P	-	2	0	LCE3A	150862142	0.987000	0.35691	0.673000	0.29887	0.027000	0.11550	2.592000	0.46171	1.990000	0.58119	0.563000	0.77884	CCA		0.632	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2		NM_178431		22	47	1	0	4.4004e-07	0.00333	4.70313e-07	22	47		
S100A9	6280	broad.mit.edu	37	1	153333180	153333180	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:153333180G>A	ENST00000368738.3	+	3	254	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	71	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAAATGCAGACAAGCAGCT	0.562																																						uc001fbq.2		NaN																	0					0						c.(211-213)GAC>AAC		S100 calcium-binding protein A9							99.0	81.0	87.0					1																	153333180		2203	4300	6503	SO:0001583	missense	6280				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity	g.chr1:153333180G>A	BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.211G>A	1.37:g.153333180G>A	ENSP00000357727:p.Asp71Asn						p.D71N	NM_002965	NP_002956	P06702	S10A9_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	254	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		71			2; high affinity (Probable).|EF-hand 2.		D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Missense_Mutation	SNP	ENST00000368738.3	37	c.211G>A	CCDS1036.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865273	0.71949	.	.	ENSG00000163220	ENST00000368738	T	0.20069	2.1	5.17	4.24	0.50183	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.058724	0.64402	D	0.000003	T	0.36138	0.0956	M	0.90145	3.09	0.19945	N	0.999948	D	0.63880	0.993	P	0.62298	0.9	T	0.16988	-1.0384	10	0.66056	D	0.02	.	9.7545	0.40496	0.0956:0.0:0.9044:0.0	.	71	P06702	S10A9_HUMAN	N	71	ENSP00000357727:D71N	ENSP00000357727:D71N	D	+	1	0	S100A9	151599804	0.999000	0.42202	0.595000	0.28798	0.039000	0.13416	3.510000	0.53393	2.682000	0.91365	0.563000	0.77884	GAC		0.562	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1		NM_002965		37	53	0	0	0	0.005524	0	37	53		
INTS3	65123	broad.mit.edu	37	1	153723691	153723691	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:153723691C>T	ENST00000318967.2	+	7	1273	c.705C>T	c.(703-705)ttC>ttT	p.F235F	snoU13_ENST00000458994.1_RNA|INTS3_ENST00000456435.1_Silent_p.F29F|INTS3_ENST00000476843.1_3'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Silent_p.F235F|INTS3_ENST00000512605.1_Silent_p.F29F|RP11-216N14.9_ENST00000434575.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	236					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGTAGACTTCTGCATCTCAC	0.542																																						uc009wom.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(703-705)TTC>TTT		integrator complex subunit 3							103.0	88.0	93.0					1																	153723691		2203	4300	6503	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153723691C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.705C>T	1.37:g.153723691C>T						INTS3_uc001fct.2_Silent_p.F235F|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Silent_p.F29F|INTS3_uc010peb.1_Silent_p.F29F|INTS3_uc001fcw.2_5'UTR	p.F235F	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	926	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		236					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.705C>T	CCDS1052.1																																																																																				0.542	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2		NM_023015		7	72	0	0	0	0.001984	0	7	72		
NES	10763	broad.mit.edu	37	1	156640874	156640874	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:156640874C>T	ENST00000368223.3	-	4	3238	c.3106G>A	c.(3106-3108)Gag>Aag	p.E1036K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1036	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGCCCTCAGCCCCTCCC	0.667																																						uc001fpq.2		NaN																	0				ovary(6)	6						c.(3106-3108)GAG>AAG		nestin							92.0	102.0	99.0					1																	156640874		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640874C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3106G>A	1.37:g.156640874C>T	ENSP00000357206:p.Glu1036Lys						p.E1036K	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3239	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1036			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3106G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151592	0.21371	.	.	ENSG00000132688	ENST00000368223	D	0.86769	-2.17	4.59	1.14	0.20703	.	0.452303	0.16514	N	0.211120	T	0.56187	0.1968	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.52609	-0.8553	10	0.52906	T	0.07	.	5.3387	0.15971	0.1466:0.5667:0.0:0.2867	.	1036	P48681	NEST_HUMAN	K	1036	ENSP00000357206:E1036K	ENSP00000357206:E1036K	E	-	1	0	NES	154907498	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.044000	0.12023	0.387000	0.25024	0.563000	0.77884	GAG		0.667	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		18	165	0	0	0	0.010504	0	18	165		
LRRC71	149499	broad.mit.edu	37	1	156897392	156897392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:156897392C>T	ENST00000337428.7	+	7	921	c.767C>T	c.(766-768)tCg>tTg	p.S256L	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	256										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						ACCCTCGTCTCGCTCAACCTG	0.662											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fqm.2		NaN																	0					0						c.(766-768)TCG>TTG		hypothetical protein LOC149499							16.0	19.0	18.0					1																	156897392		2074	4196	6270	SO:0001583	missense	149499							g.chr1:156897392C>T	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.767C>T	1.37:g.156897392C>T	ENSP00000336661:p.Ser256Leu		OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	C1orf92_uc001fql.2_Missense_Mutation_p.S41L	p.S256L	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN			7	939	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		256			LRR 4.		Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.767C>T	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372535	0.82573	.	.	ENSG00000160838	ENST00000337428	T	0.67345	-0.26	4.28	4.28	0.50868	.	0.000000	0.38605	N	0.001621	T	0.48259	0.1490	L	0.55481	1.735	0.40365	D	0.979288	P;P	0.49307	0.672;0.922	B;B	0.38194	0.191;0.267	T	0.59579	-0.7428	10	0.54805	T	0.06	-12.8893	13.7263	0.62761	0.0:1.0:0.0:0.0	.	256;41	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	L	256	ENSP00000336661:S256L	ENSP00000336661:S256L	S	+	2	0	LRRC71	155164016	0.980000	0.34600	0.992000	0.48379	0.924000	0.55760	2.948000	0.49066	2.220000	0.72140	0.455000	0.32223	TCG		0.662	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1		NM_144702		11	9	0	0	0	0.010729	0	11	9		
CRP	1401	broad.mit.edu	37	1	159684367	159684367	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:159684367G>C	ENST00000255030.5	-	0	12				CRP_ENST00000368110.1_De_novo_Start_OutOfFrame|CRP_ENST00000368112.1_De_novo_Start_OutOfFrame|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000437342.1_De_novo_Start_OutOfFrame|CRP_ENST00000368111.1_De_novo_Start_OutOfFrame|CRP_ENST00000343919.2_De_novo_Start_OutOfFrame	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related						acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	AGAAGTCCTAGATCTCTTGCC	0.458																																						uc001ftw.2		NaN																	0				ovary(1)	1						c.(-93--89)ATCTA>ATGTA		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)																																					1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159684367G>C	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.-92C>G	1.37:g.159684367G>C						CRP_uc001ftx.1_Translation_Start_Site|CRP_uc001fty.1_5'Flank		NM_000567	NP_000558	P02741	CRP_HUMAN			1	13	-	all_hematologic(112;0.0429)							A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Translation_Start_Site	SNP	ENST00000255030.5	37	c.-91C>G	CCDS30911.1																																																																																				0.458	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1		NM_000567		3	12	0	0	0	0.004672	0	3	12		
FCRLB	127943	broad.mit.edu	37	1	161697035	161697035	+	Splice_Site	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:161697035A>T	ENST00000367948.2	+	8	1080		c.e8-1		FCRLB_ENST00000367946.3_Splice_Site|FCRLB_ENST00000392158.1_Splice_Site|FCRLB_ENST00000336830.5_Splice_Site|FCRLB_ENST00000495397.1_Splice_Site|FCRLB_ENST00000367944.3_Splice_Site|FCRLB_ENST00000367945.1_Splice_Site			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B						negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCATTCACAGGTTCTCCCC	0.682																																						uc001gbh.2		NaN																	0					0						c.e8-2		Fc receptor-like B							23.0	27.0	26.0					1																	161697035		2202	4298	6500	SO:0001630	splice_region_variant	127943					endoplasmic reticulum		g.chr1:161697035A>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.866-1A>T	1.37:g.161697035A>T						FCRLB_uc009wus.2_Splice_Site_p.G289_splice|FCRLB_uc001gbj.2_Splice_Site_p.V241_splice|FCRLB_uc001gbk.2_Splice_Site_p.G254_splice|FCRLB_uc001gbl.2_Splice_Site_p.V234_splice|FCRLB_uc001gbm.2_Splice_Site_p.G247_splice|FCRLB_uc001gbi.2_Splice_Site_p.G289_splice|FCRLB_uc001gbn.3_Splice_Site_p.G291_splice	p.G289_splice	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1100	+	all_hematologic(112;0.0359)							A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Splice_Site	SNP	ENST00000367948.2	37	c.866_splice	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.605284	0.28623	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	.	.	.	3.54	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.38915	D	0.957627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9981	0.19505	0.7713:0.0:0.0:0.2287	.	.	.	.	.	-1	.	.	.	+	.	.	FCRLB	159963659	0.996000	0.38824	0.108000	0.21378	0.158000	0.22134	2.354000	0.44098	1.468000	0.48064	0.374000	0.22700	.		0.682	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1		NM_152378	Intron	3	17	0	0	0	0.009096	0	3	17		
CFH	3075	broad.mit.edu	37	1	196694341	196694341	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:196694341C>A	ENST00000367429.4	+	12	2027	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	596	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGAAATTCTCCTGCAAACCA	0.393																																						uc001gtj.3		NaN																	0				skin(4)|ovary(1)|breast(1)	6						c.(1786-1788)TCC>TAC		complement factor H isoform a precursor							104.0	91.0	95.0					1																	196694341		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196694341C>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1787C>A	1.37:g.196694341C>A	ENSP00000356399:p.Ser596Tyr						p.S596Y	NM_000186	NP_000177	P08603	CFAH_HUMAN			12	2027	+			596			Sushi 10.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1787C>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427869	0.25726	.	.	ENSG00000000971	ENST00000367429	T	0.66638	-0.22	5.74	0.403	0.16350	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67002	0.2847	M	0.68952	2.095	0.46981	D	0.999274	P	0.45283	0.855	P	0.49953	0.627	T	0.64123	-0.6481	9	0.56958	D	0.05	.	5.6236	0.17470	0.0:0.5463:0.1348:0.3189	.	596	P08603	CFAH_HUMAN	Y	596	ENSP00000356399:S596Y	ENSP00000356399:S596Y	S	+	2	0	CFH	194960964	0.216000	0.23585	0.988000	0.46212	0.172000	0.22775	0.759000	0.26461	0.157000	0.19338	-0.142000	0.14014	TCC		0.393	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2		NM_000186		7	41	1	0	0.00307968	0.00308	0.00320493	7	41		
CRB1	23418	broad.mit.edu	37	1	197411332	197411332	+	Silent	SNP	G	G	T	rs541488801		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:197411332G>T	ENST00000367400.3	+	11	4050	c.3915G>T	c.(3913-3915)ccG>ccT	p.P1305P	CRB1_ENST00000538660.1_Silent_p.P769P|CRB1_ENST00000367399.2_Silent_p.P1193P|CRB1_ENST00000535699.1_Silent_p.P1281P|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000544212.1_Silent_p.P786P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1305	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		P -> L (in RP12). {ECO:0000269|PubMed:22128245}.		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)			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						CCTCTGATCCGTGTGTCAATG	0.493																																						uc001gtz.2		NaN																	0		p.P1305A(1)		ovary(5)|skin(3)|large_intestine(1)	9						c.(3913-3915)CCG>CCT		crumbs homolog 1 precursor							298.0	280.0	286.0					1																	197411332		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197411332G>T		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.3915G>T	1.37:g.197411332G>T						CRB1_uc010poz.1_Silent_p.P1281P|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.P1193P|CRB1_uc010ppb.1_Silent_p.P769P|CRB1_uc010ppd.1_Silent_p.P786P|CRB1_uc001gub.1_3'UTR	p.P1305P	NM_201253	NP_957705	P82279	CRUM1_HUMAN			11	4050	+			1305			Extracellular (Potential).|EGF-like 19; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.3915G>T	CCDS1390.1																																																																																				0.493	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253		41	164	1	0	1.96642e-18	0.006999	2.14384e-18	41	164		
PTPRC	5788	broad.mit.edu	37	1	198711037	198711037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:198711037C>T	ENST00000367376.2	+	24	2608	c.2437C>T	c.(2437-2439)Cag>Tag	p.Q813*	PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q654*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q765*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q652*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q815*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	813	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GACTCACATTCAGTTCACCAG	0.413																																						uc001gur.1		NaN																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2437-2439)CAG>TAG		protein tyrosine phosphatase, receptor type, C							60.0	57.0	58.0					1																	198711037		2203	4300	6503	SO:0001587	stop_gained	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711037C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2437C>T	1.37:g.198711037C>T	ENSP00000356346:p.Gln813*					PTPRC_uc001gus.1_Nonsense_Mutation_p.Q765*|PTPRC_uc001gut.1_Nonsense_Mutation_p.Q652*	p.Q813*	NM_002838	NP_002829	P08575	PTPRC_HUMAN			24	2617	+			813			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37	c.2437C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.295595	0.98747	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	6.07	6.07	0.98685	.	0.000000	0.46442	D	0.000297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	815;765;813;652	.	ENSP00000306782:Q652X	Q	+	1	0	PTPRC	196977660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.736000	0.84948	2.884000	0.98904	0.655000	0.94253	CAG		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding					3	32	0	0	0	0.004672	0	3	32		
PHLDA3	23612	broad.mit.edu	37	1	201437671	201437671	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201437671C>T	ENST00000367311.3	-	1	641	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82K|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	82	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						AAGTCGATCTCGCCGCCCCCT	0.652																																						uc001gwq.2		NaN																	0					0						c.(244-246)GAG>AAG		pleckstrin homology-like domain, family A,							68.0	73.0	71.0					1																	201437671		2203	4300	6503	SO:0001583	missense	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437671C>T	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.244G>A	1.37:g.201437671C>T	ENSP00000356280:p.Glu82Lys					PHLDA3_uc009wzx.2_5'UTR	p.E82K	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN			1	629	-			82			PH.		B2R5A4|Q53HD6|Q8NBW9	Missense_Mutation	SNP	ENST00000367311.3	37	c.244G>A	CCDS1412.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571057	0.96553	.	.	ENSG00000174307	ENST00000367311;ENST00000367309	T;T	0.29917	1.55;1.55	3.75	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	U	0.000000	T	0.50718	0.1632	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56751	-0.7927	10	0.72032	D	0.01	-22.8563	15.91	0.79467	0.0:1.0:0.0:0.0	.	82	Q9Y5J5	PHLA3_HUMAN	K	82	ENSP00000356280:E82K;ENSP00000356278:E82K	ENSP00000356278:E82K	E	-	1	0	PHLDA3	199704294	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.514000	0.81750	1.796000	0.52611	0.491000	0.48974	GAG		0.652	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2		NM_012396		16	70	0	0	0	0.006122	0	16	70		
PHLDA3	23612	broad.mit.edu	37	1	201437831	201437831	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201437831C>T	ENST00000367311.3	-	1	481	c.84G>A	c.(82-84)cgG>cgA	p.R28R	PHLDA3_ENST00000367309.1_Silent_p.R28R|PHLDA3_ENST00000485436.1_5'Flank	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	28	PH.		R -> Q (in dbSNP:rs35383942).		anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						CGCAGCGCTTCCGCTTCCACA	0.721																																						uc001gwq.2		NaN																	0					0						c.(82-84)CGG>CGA		pleckstrin homology-like domain, family A,							10.0	12.0	12.0					1																	201437831		2185	4276	6461	SO:0001819	synonymous_variant	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437831C>T	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.84G>A	1.37:g.201437831C>T						PHLDA3_uc009wzx.2_5'UTR	p.R28R	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN			1	469	-			28			PH.		B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	ENST00000367311.3	37	c.84G>A	CCDS1412.1																																																																																				0.721	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2		NM_012396		6	21	0	0	0	0.001168	0	6	21		
LMOD1	25802	broad.mit.edu	37	1	201915321	201915321	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:201915321G>A	ENST00000367288.4	-	1	394	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	50					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTCTCTGCCGCAGCCCCACG	0.587																																						uc001gxb.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(148-150)CGG>TGG		leiomodin 1 (smooth muscle)							74.0	81.0	79.0					1																	201915321		2006	4175	6181	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201915321G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.148C>T	1.37:g.201915321G>A	ENSP00000356257:p.Arg50Trp					LMOD1_uc010ppu.1_Missense_Mutation_p.R50W	p.R50W	NM_012134	NP_036266	P29536	LMOD1_HUMAN			1	396	-			50					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.148C>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175585	0.78564	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.54279	0.58	5.93	5.0	0.66597	.	0.214262	0.23587	N	0.046590	T	0.75148	0.3810	M	0.90019	3.08	0.49389	D	0.999784	D;D	0.76494	0.999;0.999	D;D	0.63033	0.91;0.91	T	0.81015	-0.1124	10	0.72032	D	0.01	-11.7156	14.1204	0.65184	0.0:0.0:0.8486:0.1514	.	50;50	B4E3S9;P29536	.;LMOD1_HUMAN	W	50	ENSP00000356257:R50W	ENSP00000356257:R50W	R	-	1	2	LMOD1	200181944	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	1.476000	0.48215	0.561000	0.74099	CGG		0.587	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2				13	54	0	0	0	0.013537	0	13	54		
SLC45A3	85414	broad.mit.edu	37	1	205632625	205632625	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:205632625C>T	ENST00000367145.3	-	3	589	c.294G>A	c.(292-294)ctG>ctA	p.L98L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	98					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAAGAGGCTCAGCAGGATGC	0.677			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1		NaN		Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	0				ovary(2)|prostate(2)	4						c.(292-294)CTG>CTA		prostein							20.0	23.0	22.0					1																	205632625		2199	4287	6486	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205632625C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.294G>A	1.37:g.205632625C>T						SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.L98L	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	633	-	Breast(84;0.07)		98			Helical; Name=3; (Potential).		A8K2U9	Silent	SNP	ENST00000367145.3	37	c.294G>A	CCDS1458.1																																																																																				0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1		NM_033102		6	30	0	0	0	0.001984	0	6	30		
IKBKE	9641	broad.mit.edu	37	1	206653236	206653236	+	Missense_Mutation	SNP	G	G	A	rs143491598		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:206653236G>A	ENST00000367120.3	+	11	1580	c.1207G>A	c.(1207-1209)Gtc>Atc	p.V403I	IKBKE_ENST00000537984.1_Missense_Mutation_p.V318I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	403	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCCAAGTTCGTCCCCAAAGT	0.592											OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hdz.1		NaN																	0				ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(1207-1209)GTC>ATC		IKK-related kinase epsilon		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	43.0	42.0	42.0		952,1207,1207	3.4	0.9	1	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	318/632,403/658,403/717	206653236	2,13004	2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206653236G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1207G>A	1.37:g.206653236G>A	ENSP00000356087:p.Val403Ile		OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	IKBKE_uc009xbv.1_Missense_Mutation_p.V403I|IKBKE_uc001hea.1_Missense_Mutation_p.V318I	p.V403I	NM_014002	NP_054721	Q14164	IKKE_HUMAN			11	1575	+	Breast(84;0.137)		403					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1207G>A	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	G	8.107	0.777962	0.16120	0.0	2.33E-4	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.63417	-0.04;0.11	5.3	3.41	0.39046	.	0.335278	0.32301	N	0.006281	T	0.46308	0.1386	L	0.54323	1.7	0.22389	N	0.999148	P;B	0.37122	0.583;0.044	B;B	0.24394	0.053;0.004	T	0.28586	-1.0039	10	0.22109	T	0.4	0.9936	7.6394	0.28284	0.0832:0.0:0.7442:0.1725	.	318;403	Q3B754;Q14164	.;IKKE_HUMAN	I	403;318	ENSP00000356087:V403I;ENSP00000444529:V318I	ENSP00000356087:V403I	V	+	1	0	IKBKE	204719859	0.995000	0.38212	0.872000	0.34217	0.550000	0.35303	2.535000	0.45685	0.586000	0.29626	0.462000	0.41574	GTC		0.592	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1				3	46	0	0	0	0.009096	0	3	46		
PFKFB2	5208	broad.mit.edu	37	1	207242832	207242832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:207242832C>T	ENST00000367080.3	+	11	1175	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	PFKFB2_ENST00000545806.1_Nonsense_Mutation_p.R318*|PFKFB2_ENST00000541914.1_Nonsense_Mutation_p.R165*|PFKFB2_ENST00000367079.2_Nonsense_Mutation_p.R351*|PFKFB2_ENST00000411990.2_Nonsense_Mutation_p.R253*|PFKFB2_ENST00000473310.1_3'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	351	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GTTTGCACTTCGAGATCAAGA	0.463																																						uc001hfg.2		NaN																	0				ovary(1)	1						c.(1051-1053)CGA>TGA		6-phosphofructo-2-kinase/fructose-2,							185.0	161.0	169.0					1																	207242832		2203	4300	6503	SO:0001587	stop_gained	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207242832C>T		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1051C>T	1.37:g.207242832C>T	ENSP00000356047:p.Arg351*					PFKFB2_uc010psc.1_Nonsense_Mutation_p.R253*|PFKFB2_uc001hfh.2_Nonsense_Mutation_p.R351*|PFKFB2_uc009xcc.2_Nonsense_Mutation_p.R309*|PFKFB2_uc010psd.1_Nonsense_Mutation_p.R165*	p.R351*	NM_006212	NP_006203	O60825	F262_HUMAN			11	1160	+	Prostate(682;0.19)		351			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Nonsense_Mutation	SNP	ENST00000367080.3	37	c.1051C>T	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	C	38	6.773773	0.97829	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.576	0.56363	0.2608:0.7392:0.0:0.0	.	.	.	.	X	253;351;351;318;165	.	ENSP00000356046:R351X	R	+	1	2	PFKFB2	205309455	0.994000	0.37717	0.998000	0.56505	0.994000	0.84299	1.864000	0.39469	2.729000	0.93468	0.655000	0.94253	CGA		0.463	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1				6	79	0	0	0	0.001168	0	6	79		
CENPF	1063	broad.mit.edu	37	1	214814564	214814564	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:214814564C>T	ENST00000366955.3	+	12	3051	c.2883C>T	c.(2881-2883)atC>atT	p.I961I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGTTCCATCATTTCTCTAA	0.353																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(2881-2883)ATC>ATT		centromere protein F							49.0	55.0	53.0					1																	214814564		2187	4295	6482	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214814564C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2883C>T	1.37:g.214814564C>T							p.I961I	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3057	+			961			Potential.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.2883C>T	CCDS31023.1																																																																																				0.353	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		14	63	0	0	0	0.003163	0	14	63		
SMYD3	64754	broad.mit.edu	37	1	246021899	246021899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:246021899G>C	ENST00000388985.4	-	10	974	c.975C>G	c.(973-975)atC>atG	p.I325M	SMYD3_ENST00000541742.1_Missense_Mutation_p.I266M|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000490107.1_Missense_Mutation_p.I266M			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	325					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TCAGCTGGTAGATGTTGATAT	0.507																																						uc001ibl.2		NaN																	0					0						c.(973-975)ATC>ATG		SET and MYND domain containing 3							170.0	146.0	154.0					1																	246021899		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246021899G>C	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.975C>G	1.37:g.246021899G>C	ENSP00000373637:p.Ile325Met					SMYD3_uc001ibk.2_Missense_Mutation_p.I266M|SMYD3_uc001ibi.2_Missense_Mutation_p.I136M|SMYD3_uc001ibj.2_Missense_Mutation_p.I136M	p.I325M	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	10	1070	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	325					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.975C>G	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445856	0.43429	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	T;T;T;T	0.54866	1.73;1.73;1.74;0.55	5.42	4.49	0.54785	.	0.222360	0.37012	N	0.002291	T	0.46229	0.1382	L	0.45137	1.4	0.44995	D	0.998018	B;P	0.40970	0.168;0.734	B;B	0.43331	0.137;0.416	T	0.34354	-0.9832	10	0.32370	T	0.25	-22.5439	8.9089	0.35541	0.0744:0.0:0.776:0.1497	.	325;136	Q9H7B4;B3KN46	SMYD3_HUMAN;.	M	266;266;155;325;136	ENSP00000444184:I266M;ENSP00000419184:I266M;ENSP00000373637:I325M;ENSP00000375712:I136M	ENSP00000373637:I325M	I	-	3	3	SMYD3	244088522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.097000	0.41748	1.246000	0.43901	0.655000	0.94253	ATC		0.507	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_022743		4	61	0	0	0	0.009096	0	4	61		
CNST	163882	broad.mit.edu	37	1	246797846	246797846	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:246797846G>A	ENST00000366513.4	+	6	1044	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	CNST_ENST00000366512.3_Missense_Mutation_p.E259K|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	259					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ATTTAATGGTGAAGATTTTGA	0.333																																						uc001ibp.2		NaN																	0					0						c.(775-777)GAA>AAA		hypothetical protein LOC163882 isoform 1							111.0	116.0	115.0					1																	246797846		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246797846G>A	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.775G>A	1.37:g.246797846G>A	ENSP00000355470:p.Glu259Lys					CNST_uc001ibo.3_Missense_Mutation_p.E259K	p.E259K	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			6	1153	+			259					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.775G>A	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237515	0.79800	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.25414	1.86;1.8	5.51	4.6	0.57074	.	0.059088	0.64402	D	0.000002	T	0.30324	0.0761	M	0.77103	2.36	0.80722	D	1	B;B	0.32203	0.197;0.36	B;B	0.32022	0.058;0.139	T	0.13899	-1.0492	10	0.66056	D	0.02	-1.0183	9.4039	0.38449	0.1628:0.0:0.8372:0.0	.	259;259	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	K	259	ENSP00000355470:E259K;ENSP00000355469:E259K	ENSP00000355469:E259K	E	+	1	0	CNST	244864469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.894000	0.56250	1.338000	0.45544	0.655000	0.94253	GAA		0.333	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		NM_152609		6	52	0	0	0	0.001168	0	6	52		
ZNF496	84838	broad.mit.edu	37	1	247464049	247464049	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:247464049C>T	ENST00000294753.4	-	9	2000	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.P548P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	512					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTTTTCCAGCGGCTCTTTGG	0.642																																						uc001ico.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1534-1536)CCG>CCA		zinc finger protein 496							104.0	105.0	105.0					1																	247464049		2203	4300	6503	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464049C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1536G>A	1.37:g.247464049C>T						ZNF496_uc009xgv.2_Silent_p.P548P|ZNF496_uc001icp.2_Silent_p.P512P	p.P512P	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	2001	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		512					Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.1536G>A	CCDS1631.1																																																																																				0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2		NM_032752		4	110	0	0	0	0.009096	0	4	110		
OR2L8	391190	broad.mit.edu	37	1	248112934	248112934	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:248112934C>G	ENST00000357191.3	+	1	775	c.775C>G	c.(775-777)Cta>Gta	p.L259V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTACACTTATCTACGTCCAAG	0.483																																						uc001idt.1		NaN																	0				ovary(1)|skin(1)	2						c.(775-777)CTA>GTA		olfactory receptor, family 2, subfamily L,							130.0	96.0	107.0					1																	248112934		2203	4297	6500	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112934C>G	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.775C>G	1.37:g.248112934C>G	ENSP00000349719:p.Leu259Val					OR2L13_uc001ids.2_Intron	p.L259V	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	775	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		259			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.775C>G	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	1.569	-0.534630	0.04082	.	.	ENSG00000196936	ENST00000357191	T	0.39787	1.06	1.8	-0.299	0.12808	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26055	U	0.026610	T	0.30166	0.0756	N	0.25426	0.745	0.09310	N	1	B	0.29671	0.254	B	0.43575	0.424	T	0.21895	-1.0232	10	0.33141	T	0.24	.	1.9271	0.03319	0.2672:0.3579:0.0:0.3749	.	259	Q8NGY9	OR2L8_HUMAN	V	259	ENSP00000349719:L259V	ENSP00000349719:L259V	L	+	1	2	OR2L8	246179557	0.000000	0.05858	0.015000	0.15790	0.183000	0.23260	-5.113000	0.00150	0.108000	0.17862	0.485000	0.47835	CTA		0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2				25	73	0	0	0	0.010818	0	25	73		
OR2L3	391192	broad.mit.edu	37	1	248224758	248224758	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:248224758C>G	ENST00000359959.3	+	1	775	c.775C>G	c.(775-777)Cta>Gta	p.L259V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			CTACACTTATCTACGTCCAAG	0.493																																						uc001idx.1		NaN																	0					0						c.(775-777)CTA>GTA		olfactory receptor, family 2, subfamily L,							119.0	112.0	114.0					1																	248224758		2203	4297	6500	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224758C>G	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.775C>G	1.37:g.248224758C>G	ENSP00000353044:p.Leu259Val					OR2L13_uc001ids.2_Intron	p.L259V	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	775	+	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)		259			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.775C>G	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	3.082	-0.188889	0.06299	.	.	ENSG00000198128	ENST00000359959	T	0.39787	1.06	2.01	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26055	U	0.026610	T	0.31167	0.0788	N	0.25957	0.775	0.09310	N	1	P	0.38370	0.628	P	0.47827	0.558	T	0.09930	-1.0652	10	0.37606	T	0.19	.	1.7058	0.02881	0.2035:0.4598:0.2007:0.136	.	259	Q8NG85	OR2L3_HUMAN	V	259	ENSP00000353044:L259V	ENSP00000353044:L259V	L	+	1	2	OR2L3	246291381	0.000000	0.05858	0.003000	0.11579	0.373000	0.29922	-1.686000	0.01929	0.179000	0.19938	0.456000	0.33151	CTA		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1		NM_001004687		3	122	0	0	0	0.004672	0	3	122		
ASB13	79754	broad.mit.edu	37	10	5691004	5691004	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:5691004T>C	ENST00000357700.6	-	4	472	c.446A>G	c.(445-447)cAt>cGt	p.H149R	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	149					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GGTCCCAAAATGGCAATCGTG	0.542																																						uc001iig.2		NaN																	0				ovary(1)	1						c.(445-447)CAT>CGT		ankyrin repeat and SOCS box-containing protein							131.0	116.0	121.0					10																	5691004		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5691004T>C	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.446A>G	10.37:g.5691004T>C	ENSP00000350331:p.His149Arg					ASB13_uc001iii.2_RNA|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.H149R	p.H149R	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	4	490	-			149			ANK 5.		A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.446A>G	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.391557	0.62066	.	.	ENSG00000196372	ENST00000357700	T	0.63744	-0.06	4.7	4.7	0.59300	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	N	0.16098	0.37	0.58432	D	0.999994	D;P	0.53745	0.962;0.719	P;B	0.45538	0.484;0.425	T	0.47018	-0.9149	10	0.29301	T	0.29	-18.3572	13.8405	0.63435	0.0:0.0:0.0:1.0	.	149;149	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	R	149	ENSP00000350331:H149R	ENSP00000350331:H149R	H	-	2	0	ASB13	5731010	1.000000	0.71417	0.996000	0.52242	0.400000	0.30750	4.945000	0.63568	1.762000	0.52044	0.260000	0.18958	CAT		0.542	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1				34	118	0	0	0	0.003271	0	34	118		
BMI1	648	broad.mit.edu	37	10	22616526	22616526	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:22616526C>G	ENST00000376663.3	+	4	717	c.212C>G	c.(211-213)tCa>tGa	p.S71*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S214*	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	71					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TTTTTCAGGTCAGATAAAACT	0.264																																						uc001irh.2		NaN																	0				ovary(1)|skin(1)	2						c.(211-213)TCA>TGA		BMI1 polycomb ring finger oncogene							42.0	50.0	47.0					10																	22616526		2174	4271	6445	SO:0001587	stop_gained	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22616526C>G	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.212C>G	10.37:g.22616526C>G	ENSP00000365851:p.Ser71*					BMI1_uc009xkg.2_Nonsense_Mutation_p.S214*	p.S71*	NM_005180	NP_005171	P35226	BMI1_HUMAN			4	851	+			71					Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	37	c.212C>G	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536341	0.45176	.	.	ENSG00000168283	ENST00000417470;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820	.	.	.	5.78	5.78	0.91487	.	0.118325	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-7.9431	19.6126	0.95616	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000365851:S71X	S	+	2	0	BMI1	22656532	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	7.174000	0.77620	2.738000	0.93877	0.655000	0.94253	TCA		0.264	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1		NM_005180		13	121	0	0	0	0.001855	0	13	121		
NRP1	8829	broad.mit.edu	37	10	33619671	33619671	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:33619671G>C	ENST00000265371.4	-	3	738	c.213C>G	c.(211-213)ttC>ttG	p.F71L	NRP1_ENST00000374816.3_Missense_Mutation_p.F71L|NRP1_ENST00000395995.1_Missense_Mutation_p.F71L|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Missense_Mutation_p.F71L|NRP1_ENST00000374822.4_Missense_Mutation_p.F71L|NRP1_ENST00000374821.5_Missense_Mutation_p.F71L|NRP1_ENST00000374823.5_Missense_Mutation_p.F71L|NRP1_ENST00000432372.2_Missense_Mutation_p.F71L			O14786	NRP1_HUMAN	neuropilin 1	71	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGTGAGGGTTGAAGTTGATCA	0.478																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(211-213)TTC>TTG		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						135.0	118.0	124.0					10																	33619671		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33619671G>C	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.213C>G	10.37:g.33619671G>C	ENSP00000265371:p.Phe71Leu					NRP1_uc001iwv.3_Missense_Mutation_p.F71L|NRP1_uc009xlz.2_Missense_Mutation_p.F71L|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.F71L|NRP1_uc001iwz.2_Missense_Mutation_p.F71L|NRP1_uc001ixa.2_Missense_Mutation_p.F71L|NRP1_uc001ixb.1_Missense_Mutation_p.F71L|NRP1_uc001ixc.1_Missense_Mutation_p.F71L	p.F71L	NM_003873	NP_003864	O14786	NRP1_HUMAN			2	736	-			71			CUB 1.|Extracellular (Potential).		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.213C>G	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486618	0.84854	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.99	5.99	0.97316	CUB (5);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.995;0.993;0.996;0.999;0.999	T	0.81247	-0.1019	10	0.87932	D	0	-27.9143	20.4777	0.99188	0.0:0.0:1.0:0.0	.	71;71;71;71;71;71;71;71	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	L	71	ENSP00000265371:F71L;ENSP00000364001:F71L;ENSP00000379317:F71L;ENSP00000363955:F71L;ENSP00000363954:F71L;ENSP00000363956:F71L;ENSP00000363949:F71L	ENSP00000265371:F71L	F	-	3	2	NRP1	33659677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.278000	0.65592	2.840000	0.97914	0.655000	0.94253	TTC		0.478	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2				10	44	0	0	0	0.006214	0	10	44		
SYT15	83849	broad.mit.edu	37	10	46967671	46967671	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:46967671C>T	ENST00000374321.4	-	4	472	c.406G>A	c.(406-408)Gag>Aag	p.E136K	SYT15_ENST00000503753.1_Missense_Mutation_p.E136K|SYT15_ENST00000374325.3_Missense_Mutation_p.E136K|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.E189K	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTTTTGTCCTCCGGGAACTTG	0.617																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NaN																	0					0						c.(406-408)GAG>AAG		synaptotagmin XV isoform a							105.0	121.0	116.0					10																	46967671		2055	4202	6257	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46967671C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.406G>A	10.37:g.46967671C>T	ENSP00000363441:p.Glu136Lys					SYT15_uc001jdz.2_Missense_Mutation_p.E136K|SYT15_uc001jeb.2_Missense_Mutation_p.E14K|SYT15_uc010qfp.1_RNA	p.E136K	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			4	559	-			136			Cytoplasmic (Potential).		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.406G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264294	0.59431	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.15718	2.4;2.4;2.67;2.65;2.53	4.88	4.88	0.63580	.	0.180691	0.49916	D	0.000124	T	0.37237	0.0996	M	0.72894	2.215	0.51012	D	0.999908	P;D	0.58620	0.777;0.983	B;P	0.61800	0.353;0.894	T	0.04811	-1.0925	10	0.30078	T	0.28	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	136;136	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	K	136;136;136;14;189;136;20	ENSP00000363445:E136K;ENSP00000427607:E136K;ENSP00000363443:E189K;ENSP00000363441:E136K;ENSP00000424803:E20K	ENSP00000363441:E136K	E	-	1	0	SYT15	46387677	0.998000	0.40836	0.935000	0.37517	0.051000	0.14879	4.489000	0.60309	2.433000	0.82419	0.650000	0.86243	GAG		0.617	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912		13	132	0	0	0	0.00245	0	13	132		
PCDH15	65217	broad.mit.edu	37	10	55581860	55581860	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:55581860G>C	ENST00000320301.6	-	33	6020	c.5626C>G	c.(5626-5628)Cag>Gag	p.Q1876E	PCDH15_ENST00000395433.1_Missense_Mutation_p.Q1853E|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q1836E|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q1878E|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q1873E|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q1807E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q730E|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1876					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTTCTCTCTGAGGGTCTGTT	0.388										HNSCC(58;0.16)																												uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5626-5628)CAG>GAG		protocadherin 15 isoform CD1-4 precursor							247.0	234.0	238.0					10																	55581860		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55581860G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5626C>G	10.37:g.55581860G>C	ENSP00000322604:p.Gln1876Glu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730E|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878E|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856E|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853E	p.Q1876E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	6021	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1876			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5626C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019741	0.19355	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T	0.56444	0.5;0.47;0.51;0.46;0.48;0.48;0.49	5.15	4.19	0.49359	.	.	.	.	.	T	0.40448	0.1117	N	0.19112	0.55	0.09310	N	0.999994	B;B;B;B;B;B;B;B;B	0.19817	0.022;0.022;0.022;0.022;0.039;0.039;0.022;0.001;0.022	B;B;B;B;B;B;B;B;B	0.16722	0.016;0.016;0.016;0.016;0.016;0.016;0.016;0.0;0.016	T	0.35450	-0.9788	9	0.59425	D	0.04	.	14.0552	0.64764	0.0:0.0:0.8483:0.1517	.	1853;1876;1878;1883;1807;1836;1873;730;1876	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;PCD15_HUMAN	E	1836;1878;1853;730;1876;1873;1883;1807	ENSP00000378820:Q1836E;ENSP00000354950:Q1878E;ENSP00000378821:Q1853E;ENSP00000363068:Q730E;ENSP00000322604:Q1876E;ENSP00000378818:Q1873E;ENSP00000412628:Q1807E	ENSP00000322604:Q1876E	Q	-	1	0	PCDH15	55251866	0.193000	0.23313	0.092000	0.20876	0.015000	0.08874	2.778000	0.47726	2.417000	0.82017	0.591000	0.81541	CAG		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		58	67	0	0	0	0.01441	0	58	67		
ZWINT	11130	broad.mit.edu	37	10	58118398	58118398	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:58118398A>T	ENST00000373944.3	-	7	749	c.711T>A	c.(709-711)gaT>gaA	p.D237E	ZWINT_ENST00000318387.2_Missense_Mutation_p.D117E|ZWINT_ENST00000361148.6_Missense_Mutation_p.D190E|ZWINT_ENST00000395405.1_Missense_Mutation_p.D237E|ZWINT_ENST00000460654.1_5'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	237					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGGGTTTATCATCTGGAAGAT	0.532																																						uc001jjx.1		NaN																	0					0						c.(709-711)GAT>GAA		ZW10 interactor isoform a							59.0	58.0	58.0					10																	58118398		2203	4300	6503	SO:0001583	missense	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118398A>T	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.711T>A	10.37:g.58118398A>T	ENSP00000363055:p.Asp237Glu					ZWINT_uc001jjy.1_Missense_Mutation_p.D190E|ZWINT_uc001jka.1_Missense_Mutation_p.D237E|ZWINT_uc009xoy.1_RNA	p.D237E	NM_007057	NP_008988	O95229	ZWINT_HUMAN			7	748	-			237					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.711T>A	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	A	0.419	-0.909326	0.02434	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	3.85	-3.23	0.05109	.	0.854696	0.09728	N	0.763535	T	0.09949	0.0244	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31613	-0.9937	10	0.02654	T	1	-29.0321	4.9649	0.14085	0.1673:0.2535:0.0:0.5792	.	190;237	A6NNV6;O95229	.;ZWINT_HUMAN	E	237;237;117;190	ENSP00000363055:D237E;ENSP00000378801:D237E;ENSP00000322850:D117E;ENSP00000354921:D190E	ENSP00000322850:D117E	D	-	3	2	ZWINT	57788404	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.963000	0.03837	-0.682000	0.05197	-1.304000	0.01323	GAT		0.532	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1				18	27	0	0	0	0.006122	0	18	27		
NUDT13	25961	broad.mit.edu	37	10	74879774	74879774	+	Splice_Site	SNP	A	A	C	rs370637402		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:74879774A>C	ENST00000357321.4	+	3	201		c.e3-1		NUDT13_ENST00000544879.1_Splice_Site|NUDT13_ENST00000372997.3_Splice_Site|NUDT13_ENST00000349051.5_Splice_Site|NUDT13_ENST00000488223.1_Splice_Site|NUDT13_ENST00000537969.1_Splice_Site	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TCCCAAATACAGGTATTTATT	0.408																																						uc001jtj.2		NaN																	0					0						c.e3-2		nudix-type motif 13							124.0	135.0	132.0					10																	74879774		2203	4300	6503	SO:0001630	splice_region_variant	25961						hydrolase activity|metal ion binding	g.chr10:74879774A>C	AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.84-1A>C	10.37:g.74879774A>C						NUDT13_uc010qkc.1_Splice_Site|NUDT13_uc010qkd.1_Splice_Site|NUDT13_uc009xqw.2_Splice_Site|NUDT13_uc001jtk.2_Splice_Site_p.R28_splice|NUDT13_uc010qke.1_Splice_Site|NUDT13_uc001jtl.2_Splice_Site_p.R28_splice	p.R28_splice	NM_015901	NP_056985	Q86X67	NUD13_HUMAN			3	209	+	Prostate(51;0.0119)								Splice_Site	SNP	ENST00000357321.4	37	c.84_splice	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600688	0.66332	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0328	0.71720	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUDT13	74549780	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	7.780000	0.85658	1.969000	0.57287	0.533000	0.62120	.		0.408	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1		NM_015901	Intron	5	41	0	0	0	0.000602	0	5	41		
CYP26A1	1592	broad.mit.edu	37	10	94834560	94834560	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:94834560G>A	ENST00000224356.4	+	3	484	c.439G>A	c.(439-441)Gag>Aag	p.E147K	CYP26A1_ENST00000394139.1_Missense_Mutation_p.E78K|CYP26A1_ENST00000371531.1_Missense_Mutation_p.E78K	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	147					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CTTCAGCCGCGAGGCACTCGA	0.657																																						uc001kil.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(439-441)GAG>AAG		cytochrome P450, family 26, subfamily A,							27.0	28.0	28.0					10																	94834560		2202	4297	6499	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834560G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.439G>A	10.37:g.94834560G>A	ENSP00000224356:p.Glu147Lys					CYP26A1_uc001kik.1_Missense_Mutation_p.E78K|CYP26A1_uc001kim.1_Missense_Mutation_p.E45K	p.E147K	NM_000783	NP_000774	O43174	CP26A_HUMAN			3	484	+		Colorectal(252;0.122)	147					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.439G>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360603	0.61403	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.67523	-0.27;-0.27;-0.27	5.03	5.03	0.67393	.	0.155438	0.56097	D	0.000025	T	0.63379	0.2506	L	0.55017	1.72	0.58432	D	0.999998	B;B	0.29037	0.231;0.087	B;B	0.23150	0.044;0.028	T	0.63492	-0.6625	10	0.48119	T	0.1	-19.2806	18.5528	0.91072	0.0:0.0:1.0:0.0	.	78;147	B3KNI4;O43174	.;CP26A_HUMAN	K	78;147;78	ENSP00000360586:E78K;ENSP00000224356:E147K;ENSP00000377695:E78K	ENSP00000224356:E147K	E	+	1	0	CYP26A1	94824550	1.000000	0.71417	0.997000	0.53966	0.593000	0.36681	7.442000	0.80503	2.618000	0.88619	0.462000	0.41574	GAG		0.657	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3				10	16	0	0	0	0.010729	0	10	16		
NANOS1	340719	broad.mit.edu	37	10	120795652	120795652	+	IGR	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:120795652C>T	ENST00000425699.1	+	0	4627				EIF3A_ENST00000541549.1_Missense_Mutation_p.E1316K|EIF3A_ENST00000369144.3_Missense_Mutation_p.E1350K	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TTCTCTTTTTCACCTTCTCTT	0.507																																						uc001ldu.2		NaN																	0					0						c.(4048-4050)GAA>AAA		eukaryotic translation initiation factor 3,							144.0	139.0	141.0					10																	120795652		2203	4300	6503	SO:0001628	intergenic_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120795652C>T	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120795652C>T						EIF3A_uc010qsu.1_Missense_Mutation_p.E1316K	p.E1350K	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	22	4194	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1350						Missense_Mutation	SNP	ENST00000425699.1	37	c.4048G>A	CCDS7607.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315244	0.60524	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.28895	1.59;1.59	6.03	6.03	0.97812	.	0.000000	0.38272	U	0.001745	T	0.34629	0.0904	M	0.64404	1.975	0.58432	D	0.999997	P	0.35433	0.501	B	0.32980	0.156	T	0.06499	-1.0823	10	0.20519	T	0.43	-8.6405	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1350	Q14152	EIF3A_HUMAN	K	1350;1316	ENSP00000358140:E1350K;ENSP00000438178:E1316K	ENSP00000358140:E1350K	E	-	1	0	EIF3A	120785642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.108000	0.77055	2.861000	0.98227	0.655000	0.94253	GAA		0.507	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1				17	45	0	0	0	0.00499	0	17	45		
TUBGCP2	10844	broad.mit.edu	37	10	135098627	135098627	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr10:135098627G>A	ENST00000252936.3	-	12	2025	c.1986C>T	c.(1984-1986)aaC>aaT	p.N662N	TUBGCP2_ENST00000543663.1_Silent_p.N690N|TUBGCP2_ENST00000368563.2_Silent_p.N662N|TUBGCP2_ENST00000368562.1_Silent_p.N255N|TUBGCP2_ENST00000417178.2_Silent_p.N532N			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	662					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)				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)		TGGCGGTTTTGTTGCTGATCC	0.607																																						uc001lmg.1		NaN																	0					0						c.(1984-1986)AAC>AAT		tubulin, gamma complex associated protein 2							108.0	79.0	89.0					10																	135098627		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135098627G>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.1986C>T	10.37:g.135098627G>A						TUBGCP2_uc001lmf.1_Silent_p.N255N|TUBGCP2_uc010qvc.1_Silent_p.N690N|TUBGCP2_uc009ybk.1_Silent_p.N685N|TUBGCP2_uc010qvd.1_Silent_p.N532N|TUBGCP2_uc001lmh.1_RNA	p.N662N	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)	13	2343	-		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)	662					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1986C>T	CCDS7676.1																																																																																				0.607	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1				9	52	0	0	0	0.004482	0	9	52		
ANO9	338440	broad.mit.edu	37	11	431718	431718	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:431718C>T	ENST00000332826.6	-	7	599	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	172					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGGCTGCTCCCGGAACATGTG	0.667																																						uc001lpi.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(514-516)CGG>CAG		tumor protein p53 inducible protein 5							61.0	62.0	62.0					11																	431718		2203	4297	6500	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:431718C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.515G>A	11.37:g.431718C>T	ENSP00000332788:p.Arg172Gln					ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.R28Q	p.R172Q	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			7	600	-			172			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.515G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839545	0.32513	.	.	ENSG00000185101	ENST00000332826	T	0.65732	-0.17	4.25	-8.05	0.01106	.	2.391580	0.02030	N	0.048465	T	0.42743	0.1216	N	0.17082	0.46	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.38457	-0.9660	10	0.56958	D	0.05	.	8.5927	0.33697	0.0825:0.173:0.082:0.6626	.	172	A1A5B4	ANO9_HUMAN	Q	172	ENSP00000332788:R172Q	ENSP00000332788:R172Q	R	-	2	0	ANO9	421718	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.112000	0.03299	-1.925000	0.01063	-0.350000	0.07774	CGG		0.667	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1		NM_001012302		5	17	0	0	0	0.000602	0	5	17		
MOB2	81532	broad.mit.edu	37	11	1491480	1491480	+	Silent	SNP	G	G	A	rs375587388		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:1491480G>A	ENST00000329957.6	-	5	918	c.729C>T	c.(727-729)ggC>ggT	p.G243G	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	212					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						TGTGGACCCCGCCGGCCCCGC	0.682																																						uc010qwz.1		NaN																	0					0						c.(727-729)GGC>GGT		HCCA2 protein		G	,	2,3738		0,2,1868	35.0	36.0	36.0		729,619	-2.0	0.0	11		36	1,8181		0,1,4090	no	coding-synonymous,coding-synonymous	MOB2	NM_001172223.1,NM_053005.4	,	0,3,5958	AA,AG,GG		0.0122,0.0535,0.0252	,	243/269,212/238	1491480	3,11919	1870	4091	5961	SO:0001819	synonymous_variant	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1491480G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.729C>T	11.37:g.1491480G>A						MOB2_uc001lto.1_Silent_p.G127G|MOB2_uc001ltp.1_Missense_Mutation_p.R6W|MOB2_uc001ltq.1_Silent_p.G206G|MOB2_uc010qwy.1_Silent_p.G127G	p.G243G	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN			5	919	-			212					B4DKP3|Q96M67	Silent	SNP	ENST00000329957.6	37	c.729C>T	CCDS53591.1																																																																																				0.682	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1		NM_053005		11	32	0	0	0	0.008291	0	11	32		
OR51F1	256892	broad.mit.edu	37	11	4790533	4790533	+	Silent	SNP	G	G	A	rs188896909		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:4790533G>A	ENST00000380383.1	-	1	635	c.636C>T	c.(634-636)ctC>ctT	p.L212L	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.L205L|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGTCAGGATGAGATCAATTA	0.413																																						uc010qyl.1		NaN																	0				ovary(1)|skin(1)	2						c.(613-615)CTC>CTT		olfactory receptor, family 51, subfamily F,							154.0	148.0	150.0					11																	4790533		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4790533G>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.636C>T	11.37:g.4790533G>A							p.L205L	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	615	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	205						Silent	SNP	ENST00000380383.1	37	c.615C>T																																																																																					0.413	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001004752		11	42	0	0	0	0.008291	0	11	42		
FAM160A2	84067	broad.mit.edu	37	11	6232852	6232852	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6232852G>C	ENST00000449352.2	-	12	3066	c.2803C>G	c.(2803-2805)Ctc>Gtc	p.L935V	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Missense_Mutation_p.L949V			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	935					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACTCCTTGAGAAATTCAGGG	0.557																																						uc001mcl.3		NaN																	0				skin(2)	2						c.(2803-2805)CTC>GTC		hypothetical protein LOC84067 isoform 2							104.0	107.0	106.0					11																	6232852		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6232852G>C		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2803C>G	11.37:g.6232852G>C	ENSP00000416918:p.Leu935Val					FAM160A2_uc001mck.3_Missense_Mutation_p.L949V	p.L935V	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			12	3162	-			935					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2803C>G	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407918	0.42715	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.17691	2.28;2.26	5.39	4.48	0.54585	.	0.142200	0.48767	D	0.000171	T	0.20861	0.0502	L	0.60845	1.875	0.80722	D	1	P;P	0.46064	0.798;0.872	B;P	0.45856	0.3;0.495	T	0.01349	-1.1378	10	0.51188	T	0.08	-9.4361	7.9184	0.29831	0.0819:0.0:0.7591:0.159	.	935;949	Q8N612;Q8N612-2	F16A2_HUMAN;.	V	935;949	ENSP00000416918:L935V;ENSP00000265978:L949V	ENSP00000265978:L949V	L	-	1	0	FAM160A2	6189428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.074000	0.76791	1.259000	0.44117	0.650000	0.86243	CTC		0.557	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1		NM_032127		21	89	0	0	0	0.014323	0	21	89		
APBB1	322	broad.mit.edu	37	11	6432324	6432324	+	Missense_Mutation	SNP	C	C	T	rs543265186		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6432324C>T	ENST00000609360.1	-	2	353	c.254G>A	c.(253-255)cGt>cAt	p.R85H	APBB1_ENST00000311051.3_Missense_Mutation_p.R85H|APBB1_ENST00000299402.6_Missense_Mutation_p.R85H|APBB1_ENST00000389906.2_Missense_Mutation_p.R85H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	85					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTCTGGTCACGGTGGGCCGT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		16182	0.0		0.0	False		,,,				2504	0.001				GBM(147;1810 2556 5672 39622)	uc001mdb.1		NaN																	0				breast(2)	2						c.(253-255)CGT>CAT		amyloid beta A4 precursor protein-binding,							99.0	114.0	109.0					11																	6432324		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432324C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.254G>A	11.37:g.6432324C>T	ENSP00000477213:p.Arg85His					APBB1_uc001mdc.1_Missense_Mutation_p.R85H|APBB1_uc010rah.1_Intron	p.R85H	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	354	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	85					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.254G>A		.	.	.	.	.	.	.	.	.	.	C	15.82	2.946357	0.53079	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.15139	2.45;2.45;2.45	4.21	2.99	0.34606	.	0.240073	0.30193	N	0.010194	T	0.11367	0.0277	N	0.14661	0.345	0.32345	N	0.559207	D	0.64830	0.994	P	0.48815	0.591	T	0.06075	-1.0847	10	0.66056	D	0.02	-6.2716	4.3497	0.11150	0.0:0.6914:0.0:0.3086	.	85	O00213-2	.	H	85	ENSP00000299402:R85H;ENSP00000311912:R85H;ENSP00000374556:R85H	ENSP00000299402:R85H	R	-	2	0	APBB1	6388900	0.995000	0.38212	1.000000	0.80357	0.927000	0.56198	2.315000	0.43752	2.074000	0.62210	0.393000	0.25936	CGT		0.652	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1		NM_001164		29	135	0	0	0	0.008361	0	29	135		
OR6A2	8590	broad.mit.edu	37	11	6816130	6816130	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:6816130G>C	ENST00000332601.3	-	1	998	c.810C>G	c.(808-810)ctC>ctG	p.L270L		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	270					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAAAGCTGAGAGTGCCTTTG	0.463																																						uc001mes.1		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(808-810)CTC>CTG		olfactory receptor, family 6, subfamily A,							122.0	114.0	117.0					11																	6816130		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816130G>C	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.810C>G	11.37:g.6816130G>C							p.L270L	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1010	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	270			Extracellular (Potential).		Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.810C>G	CCDS7772.1																																																																																				0.463	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1		NM_003696		12	67	0	0	0	0.010729	0	12	67		
FANCF	2188	broad.mit.edu	37	11	22647304	22647304	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:22647304G>C	ENST00000327470.3	-	1	83	c.53C>G	c.(52-54)tCa>tGa	p.S18*	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	18					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGTAGTGCTTGAGACCGCCAG	0.637			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001mql.1		NaN	yes	Rec		Fanconi anaemia F	11	11p15	2188	N|F	"""Fanconi anemia, complementation group F"""			L		AML|leukemia			0				skin(1)	1						c.(52-54)TCA>TGA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group F							47.0	48.0	48.0					11																	22647304		2203	4300	6503	SO:0001587	stop_gained	2188	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647304G>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.53C>G	11.37:g.22647304G>C	ENSP00000330875:p.Ser18*						p.S18*	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			1	84	-			18					Q52LM0	Nonsense_Mutation	SNP	ENST00000327470.3	37	c.53C>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145284	0.57044	.	.	ENSG00000183161	ENST00000327470	.	.	.	5.39	5.39	0.77823	.	0.138862	0.49305	D	0.000158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.4122	17.509	0.87755	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000330875:S18X	S	-	2	0	FANCF	22603880	0.981000	0.34729	0.048000	0.18961	0.004000	0.04260	5.635000	0.67841	2.808000	0.96608	0.655000	0.94253	TCA		0.637	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2		NM_022725		6	31	0	0	0	0.001984	0	6	31		
DDB2	1643	broad.mit.edu	37	11	47236784	47236784	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:47236784G>C	ENST00000256996.4	+	1	292	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	DDB2_ENST00000378601.3_Missense_Mutation_p.E33Q|DDB2_ENST00000378603.3_Missense_Mutation_p.E33Q|DDB2_ENST00000378600.3_Missense_Mutation_p.E33Q	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	33					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GCTGGAGCCCGAGGCCAAGAA	0.612			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2		NaN	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(97-99)GAG>CAG	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							114.0	125.0	121.0					11																	47236784		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47236784G>C		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.97G>C	11.37:g.47236784G>C	ENSP00000256996:p.Glu33Gln					DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.E33Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.E33Q|DDB2_uc001nef.2_5'UTR|DDB2_uc001neg.2_5'Flank|DDB2_uc001neh.2_5'Flank	p.E33Q	NM_000107	NP_000098	Q92466	DDB2_HUMAN			1	292	+			33					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.97G>C	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557206	0.65425	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600;ENST00000378601	T;T;T;T	0.78246	-0.61;-0.65;-1.16;0.81	4.19	3.25	0.37280	.	1.014270	0.07873	N	0.968297	T	0.71813	0.3384	L	0.47716	1.5	0.26963	N	0.965761	B;B;B	0.20052	0.013;0.041;0.007	B;B;B	0.14023	0.01;0.01;0.004	T	0.60031	-0.7342	10	0.40728	T	0.16	-11.6149	10.0425	0.42166	0.0:0.2042:0.7958:0.0	.	33;33;33	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	Q	33	ENSP00000256996:E33Q;ENSP00000367866:E33Q;ENSP00000367863:E33Q;ENSP00000367864:E33Q	ENSP00000256996:E33Q	E	+	1	0	DDB2	47193360	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.233000	0.43027	1.305000	0.44909	0.655000	0.94253	GAG		0.612	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000107		3	161	0	0	0	0.004672	0	3	161		
C11orf48	79081	broad.mit.edu	37	11	62435136	62435136	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:62435136C>G	ENST00000431002.2	-	2	2208	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q	C11orf48_ENST00000532208.1_Missense_Mutation_p.E133Q|RP11-831H9.11_ENST00000528405.1_5'Flank|METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000525675.1_5'Flank|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000524958.1_5'Flank|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000354588.3_Missense_Mutation_p.E133Q			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	159										endometrium(1)|lung(5)|urinary_tract(1)	7						CAAGCATCTTCTTCATCCTGG	0.537																																						uc001nue.2		NaN																	0					0						c.(397-399)GAA>CAA		hypothetical protein LOC79081							232.0	225.0	228.0					11																	62435136		2202	4299	6501	SO:0001583	missense	79081							g.chr11:62435136C>G	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.475G>C	11.37:g.62435136C>G	ENSP00000416856:p.Glu159Gln					C11orf48_uc001nuf.2_Missense_Mutation_p.E133Q|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_Missense_Mutation_p.E133Q	p.E133Q	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN			4	832	-			159					Q96NA4	Missense_Mutation	SNP	ENST00000431002.2	37	c.397G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.785|0.785	-0.761011|-0.761011	0.02996|0.02996	.|.	.|.	ENSG00000162194|ENSG00000162194	ENST00000354588;ENST00000431002;ENST00000532208|ENST00000415855;ENST00000528115;ENST00000528862	.|.	.|.	.|.	4.23|4.23	0.945|0.945	0.19543|0.19543	.|.	0.989124|.	0.08184|.	N|.	0.984926|.	T|T	0.20170|0.20170	0.0485|0.0485	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.08055|.	0.002;0.003|.	T|T	0.24297|0.24297	-1.0164|-1.0164	9|6	0.27082|0.87932	T|D	0.32|0	-1.2518|-1.2518	6.9031|6.9031	0.24293|0.24293	0.0:0.3932:0.4248:0.182|0.0:0.3932:0.4248:0.182	.|.	133;133|.	B4DYP8;Q9BQE6-2|.	.;.|.	Q|N	133;159;133|2	.|.	ENSP00000346600:E133Q|ENSP00000410979:K2N	E|K	-|-	1|3	0|2	C11orf48|C11orf48	62191712|62191712	0.564000|0.564000	0.26602|0.26602	0.013000|0.013000	0.15412|0.15412	0.008000|0.008000	0.06430|0.06430	0.580000|0.580000	0.23803|0.23803	0.491000|0.491000	0.27793|0.27793	-0.344000|-0.344000	0.07964|0.07964	GAA|AAG		0.537	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1		NM_024099		14	315	0	0	0	0.00245	0	14	315		
ZBTB3	79842	broad.mit.edu	37	11	62521497	62521497	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:62521497G>A	ENST00000394807.3	-	1	163	c.38C>T	c.(37-39)tCg>tTg	p.S13L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTTGCCAGGCGATGCCTCTAC	0.597																																						uc001nuz.2		NaN																	0				breast(2)|ovary(1)	3						c.(37-39)TCG>TTG		zinc finger and BTB domain containing 3							104.0	93.0	96.0					11																	62521497		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62521497G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.38C>T	11.37:g.62521497G>A	ENSP00000378286:p.Ser13Leu						p.S13L	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			1	160	-			13						Missense_Mutation	SNP	ENST00000394807.3	37	c.38C>T	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	8.327	0.825538	0.16749	.	.	ENSG00000185670	ENST00000394807	T	0.14640	2.49	5.65	2.65	0.31530	.	1.174400	0.06501	N	0.736357	T	0.09642	0.0237	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.30736	-0.9968	10	0.56958	D	0.05	.	8.2589	0.31773	0.0752:0.0:0.6478:0.277	.	13	Q9H5J0	ZBTB3_HUMAN	L	13	ENSP00000378286:S13L	ENSP00000378286:S13L	S	-	2	0	ZBTB3	62278073	0.044000	0.20184	0.027000	0.17364	0.109000	0.19521	2.217000	0.42880	0.892000	0.36259	0.655000	0.94253	TCG		0.597	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1		NM_024784		9	56	0	0	0	0.008291	0	9	56		
SLC22A12	116085	broad.mit.edu	37	11	64359356	64359356	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:64359356G>A	ENST00000377574.1	+	1	1075	c.328G>A	c.(328-330)Gag>Aag	p.E110K	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Missense_Mutation_p.E110K|SLC22A12_ENST00000377567.2_Missense_Mutation_p.E110K|SLC22A12_ENST00000336464.7_Missense_Mutation_p.E110K	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	110					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CAGCTGGAGCGAGGCCGACAC	0.677																																						uc001oam.1		NaN																	0				ovary(1)	1						c.(328-330)GAG>AAG		urate anion exchanger 1 isoform a							30.0	34.0	33.0					11																	64359356		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359356G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.328G>A	11.37:g.64359356G>A	ENSP00000366797:p.Glu110Lys					SLC22A12_uc009ypr.1_Missense_Mutation_p.E110K|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.E110K|SLC22A12_uc001oan.1_Missense_Mutation_p.E110K|SLC22A12_uc009ypt.2_5'Flank	p.E110K	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			1	1075	+			110					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.328G>A	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653669	0.29425	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.4	2.51	0.30379	Major facilitator superfamily domain (1);	0.984962	0.08304	N	0.966511	T	0.17577	0.0422	M	0.70787	2.145	0.09310	N	1	B;B;P;B	0.45715	0.084;0.084;0.865;0.084	B;B;B;B	0.35312	0.006;0.006;0.2;0.006	T	0.21075	-1.0256	10	0.37606	T	0.19	.	7.1961	0.25853	0.2136:0.0:0.7864:0.0	.	110;110;110;110	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	K	110	ENSP00000366790:E110K;ENSP00000366797:E110K;ENSP00000366795:E110K;ENSP00000336836:E110K	ENSP00000336836:E110K	E	+	1	0	SLC22A12	64115932	0.001000	0.12720	0.239000	0.24122	0.450000	0.32258	1.001000	0.29783	0.313000	0.23062	0.484000	0.47621	GAG		0.677	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2		NM_144585		6	37	0	0	0	0.001168	0	6	37		
POLA2	23649	broad.mit.edu	37	11	65055264	65055264	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65055264G>A	ENST00000265465.3	+	11	1615	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	POLA2_ENST00000541089.1_Missense_Mutation_p.D154N	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	362					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCCCCTGCTTGACCTGATTGC	0.502																																						uc001odj.2		NaN																	0					0						c.(1084-1086)GAC>AAC		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						157.0	112.0	127.0					11																	65055264		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65055264G>A	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1084G>A	11.37:g.65055264G>A	ENSP00000265465:p.Asp362Asn					POLA2_uc010rod.1_Missense_Mutation_p.D154N|POLA2_uc001odk.2_Missense_Mutation_p.D59N	p.D362N	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			11	1426	+			362					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.1084G>A	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866044	0.91511	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T;T	0.31510	1.49;1.49	5.95	5.95	0.96441	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65340	-0.6192	10	0.66056	D	0.02	-38.1791	17.887	0.88858	0.0:0.0:1.0:0.0	.	154;362	B4DNB4;Q14181	.;DPOA2_HUMAN	N	362;154	ENSP00000265465:D362N;ENSP00000443222:D154N	ENSP00000265465:D362N	D	+	1	0	POLA2	64811840	1.000000	0.71417	0.965000	0.40720	0.355000	0.29361	9.067000	0.93955	2.824000	0.97209	0.655000	0.94253	GAC		0.502	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1		NM_002689		5	74	0	0	0	0.000602	0	5	74		
POLA2	23649	broad.mit.edu	37	11	65063047	65063047	+	Silent	SNP	C	C	G	rs370249013		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65063047C>G	ENST00000265465.3	+	16	2028	c.1497C>G	c.(1495-1497)ctC>ctG	p.L499L	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Silent_p.L291L	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	499					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GCCGAATACTCAAGCACATCT	0.498																																						uc001odj.2		NaN																	0					0						c.(1495-1497)CTC>CTG		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						88.0	83.0	85.0					11																	65063047		2201	4297	6498	SO:0001819	synonymous_variant	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65063047C>G	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1497C>G	11.37:g.65063047C>G						POLA2_uc010rod.1_Silent_p.L291L|POLA2_uc001odk.2_Silent_p.L196L	p.L499L	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			16	1839	+			499					B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	c.1497C>G	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895657	0.17686	.	.	ENSG00000014138	ENST00000525924	.	.	.	5.06	-8.63	0.00878	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6325	9.0753	0.36517	0.0:0.1564:0.494:0.3496	.	.	.	.	X	169	.	.	S	+	2	0	POLA2	64819623	0.054000	0.20591	0.170000	0.22879	0.975000	0.68041	-1.110000	0.03306	-1.787000	0.01268	0.462000	0.41574	TCA		0.498	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1		NM_002689		10	130	0	0	0	0.010729	0	10	130		
FRMD8	83786	broad.mit.edu	37	11	65168229	65168229	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:65168229C>T	ENST00000317568.5	+	9	1125	c.962C>T	c.(961-963)tCg>tTg	p.S321L	FRMD8_ENST00000416776.2_Missense_Mutation_p.S287L|FRMD8_ENST00000355991.5_Missense_Mutation_p.S265L	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	321	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CAGGAGCTGTCGTGGGACCAC	0.647																																						uc001odu.3		NaN																	0		p.S321S(1)		lung(1)|pancreas(1)	2						c.(961-963)TCG>TTG		FERM domain containing 8							57.0	45.0	50.0					11																	65168229		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65168229C>T	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.962C>T	11.37:g.65168229C>T	ENSP00000319726:p.Ser321Leu					FRMD8_uc009yqj.2_Missense_Mutation_p.S265L|FRMD8_uc010rof.1_Missense_Mutation_p.S287L	p.S321L	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN			9	1154	+			321			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.962C>T	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258221	0.95368	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.85088	-1.94;-1.32;-1.94	4.49	4.49	0.54785	FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.99;0.988	D	0.93196	0.6587	10	0.72032	D	0.01	-17.2142	15.0229	0.71643	0.0:1.0:0.0:0.0	.	287;265;321	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	L	321;265;287	ENSP00000319726:S321L;ENSP00000348270:S265L;ENSP00000392111:S287L	ENSP00000319726:S321L	S	+	2	0	FRMD8	64924805	1.000000	0.71417	0.919000	0.36401	0.980000	0.70556	5.149000	0.64863	2.225000	0.72522	0.549000	0.68633	TCG		0.647	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1		NM_031904		8	44	0	0	0	0.00308	0	8	44		
RIN1	9610	broad.mit.edu	37	11	66100213	66100213	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:66100213C>T	ENST00000311320.4	-	10	2012	c.1886G>A	c.(1885-1887)cGa>cAa	p.R629Q	RIN1_ENST00000524804.1_5'UTR|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.R524Q|RIN1_ENST00000530056.1_Missense_Mutation_p.R463Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	629	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						ATAGGCTACTCGGAGGAGGTG	0.592																																						uc001ohn.1		NaN																	0				lung(2)|breast(1)	3						c.(1885-1887)CGA>CAA		ras inhibitor RIN1							67.0	74.0	71.0					11																	66100213		2193	4270	6463	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66100213C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1886G>A	11.37:g.66100213C>T	ENSP00000310406:p.Arg629Gln					RIN1_uc010roy.1_Missense_Mutation_p.R260Q|RIN1_uc009yrd.1_Missense_Mutation_p.R322Q|RIN1_uc010roz.1_Missense_Mutation_p.R524Q|RIN1_uc010rpa.1_Missense_Mutation_p.R463Q	p.R629Q	NM_004292	NP_004283	Q13671	RIN1_HUMAN			10	2013	-			629			Ras and 14-3-3 protein binding region.|Ras-associating.		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.1886G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384489	0.61845	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.24538	1.85;1.85;1.85	4.89	3.02	0.34903	Ras-association (3);	0.144405	0.46442	D	0.000286	T	0.37348	0.1000	M	0.72894	2.215	0.36002	D	0.837439	B;B;P	0.51147	0.002;0.018;0.942	B;B;P	0.53760	0.007;0.01;0.734	T	0.45760	-0.9239	10	0.56958	D	0.05	-8.6034	7.835	0.29365	0.0:0.8056:0.0:0.1944	.	463;260;629	E9PNR2;B4DW96;Q13671	.;.;RIN1_HUMAN	Q	629;524;463	ENSP00000310406:R629Q;ENSP00000400560:R524Q;ENSP00000432798:R463Q	ENSP00000310406:R629Q	R	-	2	0	RIN1	65856789	1.000000	0.71417	0.999000	0.59377	0.523000	0.34469	2.478000	0.45189	0.592000	0.29728	-0.355000	0.07637	CGA		0.592	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2		NM_004292		11	84	0	0	0	0.008291	0	11	84		
INPPL1	3636	broad.mit.edu	37	11	71946359	71946359	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:71946359C>G	ENST00000298229.2	+	23	2727	c.2523C>G	c.(2521-2523)ctC>ctG	p.L841L	INPPL1_ENST00000541756.1_Silent_p.L599L|INPPL1_ENST00000538751.1_Silent_p.L599L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	841					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGGTTGCACTCAAATCCATGA	0.572																																						uc001osf.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(2521-2523)CTC>CTG		inositol polyphosphate phosphatase-like 1							123.0	125.0	124.0					11																	71946359		2200	4293	6493	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71946359C>G	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2523C>G	11.37:g.71946359C>G						INPPL1_uc001osg.2_Silent_p.L599L	p.L841L	NM_001567	NP_001558	O15357	SHIP2_HUMAN			23	2670	+			841					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.2523C>G	CCDS8213.1																																																																																				0.572	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1		NM_001567		20	99	0	0	0	0.008871	0	20	99		
INPPL1	3636	broad.mit.edu	37	11	71949157	71949157	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:71949157C>G	ENST00000298229.2	+	27	3828	c.3624C>G	c.(3622-3624)atC>atG	p.I1208M	INPPL1_ENST00000541756.1_Missense_Mutation_p.I966M|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Missense_Mutation_p.I966M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1208	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCGGGCCATCGGCTTGGAGC	0.711											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001osf.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(3622-3624)ATC>ATG		inositol polyphosphate phosphatase-like 1							20.0	21.0	21.0					11																	71949157		2198	4289	6487	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949157C>G	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3624C>G	11.37:g.71949157C>G	ENSP00000298229:p.Ile1208Met		OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_uc001osg.2_Missense_Mutation_p.I966M	p.I1208M	NM_001567	NP_001558	O15357	SHIP2_HUMAN			27	3771	+			1208			SAM.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3624C>G	CCDS8213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.64|13.64	2.298088|2.298088	0.40694|0.40694	.|.	.|.	ENSG00000165458|ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751|ENST00000320683	T;T;T|.	0.59638|.	0.25;0.25;0.25|.	4.84|4.84	-0.416|-0.416	0.12351|0.12351	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.101174|.	0.39759|.	N|.	0.001279|.	T|T	0.43919|0.43919	0.1269|0.1269	L|L	0.56396|0.56396	1.775|1.775	0.30152|0.30152	N|N	0.802994|0.802994	P|.	0.43519|.	0.809|.	B|.	0.40134|.	0.32|.	T|T	0.47381|0.47381	-0.9122|-0.9122	10|5	0.40728|.	T|.	0.16|.	.|.	4.3982|4.3982	0.11374|0.11374	0.0:0.3624:0.171:0.4666|0.0:0.3624:0.171:0.4666	.|.	1208|.	O15357|.	SHIP2_HUMAN|.	M|W	1208;966;966|70	ENSP00000298229:I1208M;ENSP00000446360:I966M;ENSP00000444619:I966M|.	ENSP00000298229:I1208M|.	I|S	+|+	3|2	3|0	INPPL1|INPPL1	71626805|71626805	0.980000|0.980000	0.34600|0.34600	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	0.085000|0.085000	0.14912|0.14912	0.257000|0.257000	0.21650|0.21650	-0.218000|-0.218000	0.12543|0.12543	ATC|TCG		0.711	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1		NM_001567		3	21	0	0	0	0.004672	0	3	21		
STARD10	10809	broad.mit.edu	37	11	72469670	72469670	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:72469670G>C	ENST00000334805.6	-	4	1283	c.364C>G	c.(364-366)Ccc>Gcc	p.P122A	STARD10_ENST00000543304.1_Missense_Mutation_p.P122A|STARD10_ENST00000545082.1_Missense_Mutation_p.P93A|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Missense_Mutation_p.P76A	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	122	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGGGCTTGGGACACCTCCCT	0.582																																						uc001osy.2		NaN																	0					0						c.(364-366)CCC>GCC		START domain containing 10							42.0	46.0	45.0					11																	72469670		1996	4148	6144	SO:0001583	missense	10809							g.chr11:72469670G>C	AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.364C>G	11.37:g.72469670G>C	ENSP00000335247:p.Pro122Ala					ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.P122A|STARD10_uc001ota.2_Missense_Mutation_p.P76A|STARD10_uc001otb.2_Missense_Mutation_p.P122A	p.P122A	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.08e-07)		4	655	-			122			START.		O60532	Missense_Mutation	SNP	ENST00000334805.6	37	c.364C>G	CCDS41688.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775295	0.90108	.	.	ENSG00000214530	ENST00000537351;ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000536728;ENST00000542989;ENST00000546314	T;T;T;T;T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13;1.13	5.12	5.12	0.69794	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	U	0.000000	T	0.71169	0.3308	M	0.93150	3.385	0.58432	D	0.999998	D;D	0.59357	0.982;0.985	P;D	0.63877	0.868;0.919	T	0.77953	-0.2394	10	0.46703	T	0.11	-26.6817	16.0561	0.80805	0.0:0.0:1.0:0.0	.	76;122	F5GY11;Q9Y365	.;PCTL_HUMAN	A	29;122;122;76;93;53;122;53;122;122	ENSP00000445708:P29A;ENSP00000438792:P122A;ENSP00000335247:P122A;ENSP00000440016:P76A;ENSP00000443548:P93A;ENSP00000438357:P53A;ENSP00000445657:P122A;ENSP00000442414:P53A;ENSP00000443597:P122A;ENSP00000445886:P122A	ENSP00000335247:P122A	P	-	1	0	STARD10	72147318	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.251000	0.95483	2.381000	0.81170	0.561000	0.74099	CCC		0.582	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1				3	19	0	0	0	0.004672	0	3	19		
C11orf30	56946	broad.mit.edu	37	11	76257114	76257114	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:76257114G>A	ENST00000529032.1	+	19	3547	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	C11orf30_ENST00000533248.1_Missense_Mutation_p.E1092K|C11orf30_ENST00000525919.1_Missense_Mutation_p.E1184K|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524767.1_Missense_Mutation_p.E1198K|C11orf30_ENST00000524490.1_Missense_Mutation_p.E1085K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1183K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1184K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1183					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTCACTGGTGAAGCAGGATC	0.478																																						uc001oxl.2		NaN																	0				ovary(5)|skin(1)	6						c.(3547-3549)GAA>AAA		EMSY protein							89.0	88.0	89.0					11																	76257114		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257114G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3547G>A	11.37:g.76257114G>A	ENSP00000432327:p.Glu1183Lys					C11orf30_uc001oxm.2_Missense_Mutation_p.E1085K|C11orf30_uc010rsb.1_Missense_Mutation_p.E1198K|C11orf30_uc010rsc.1_Missense_Mutation_p.E1184K|C11orf30_uc001oxn.2_Missense_Mutation_p.E1184K|C11orf30_uc010rsd.1_Missense_Mutation_p.E1092K|C11orf30_uc010rse.1_Missense_Mutation_p.E430K|C11orf30_uc001oxp.2_Intron	p.E1183K	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			20	3690	+			1183					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3547G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105101	0.37145	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.53	5.53	0.82687	.	0.183316	0.45126	D	0.000391	T	0.56963	0.2021	N	0.14661	0.345	0.80722	D	1	D;B;B;P;B;P	0.53151	0.958;0.39;0.39;0.478;0.39;0.478	P;B;B;B;B;B	0.55011	0.766;0.074;0.074;0.13;0.074;0.13	T	0.57734	-0.7760	9	0.40728	T	0.16	-5.029	19.6591	0.95857	0.0:0.0:1.0:0.0	.	1092;1184;1198;1184;1085;1183	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	K	1085;1183;865;1198;1092;1184;1184;1183	.	ENSP00000334130:E1183K	E	+	1	0	C11orf30	75934762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.179000	0.65043	2.879000	0.98667	0.650000	0.86243	GAA		0.478	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193		14	46	0	0	0	0.003163	0	14	46		
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:92523337G>A	ENST00000298047.6	+	7	4581	c.4564G>A	c.(4564-4566)Gag>Aag	p.E1522K	FAT3_ENST00000525166.1_Missense_Mutation_p.E1372K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1522K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1522	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATACTGCCGAGAGGCTGGA	0.498										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(4564-4566)GAG>AAG		FAT tumor suppressor homolog 3							153.0	148.0	149.0					11																	92523337		2023	4193	6216	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523337G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4564G>A	11.37:g.92523337G>A	ENSP00000298047:p.Glu1522Lys	TCGA Ovarian(4;0.039)					p.E1522K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4581	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1522			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4564G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.083056	0.76642	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.44881	0.91;0.91;0.91	6.17	6.17	0.99709	.	.	.	.	.	T	0.37652	0.1011	L	0.35593	1.075	0.80722	D	1	P	0.49961	0.93	B	0.41412	0.356	T	0.03795	-1.1003	9	0.26408	T	0.33	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1522	Q8TDW7-3	.	K	1522;1522;1372	ENSP00000298047:E1522K;ENSP00000387040:E1522K;ENSP00000432586:E1372K	ENSP00000298047:E1522K	E	+	1	0	FAT3	92162985	1.000000	0.71417	0.901000	0.35422	0.140000	0.21249	5.116000	0.64661	2.941000	0.99782	0.655000	0.94253	GAG		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		21	117	0	0	0	0.008871	0	21	117		
KIAA1377	57562	broad.mit.edu	37	11	101849120	101849120	+	Missense_Mutation	SNP	G	G	A	rs150274963	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr11:101849120G>A	ENST00000263468.8	+	7	3158	c.2888G>A	c.(2887-2889)cGg>cAg	p.R963Q	KIAA1377_ENST00000537689.1_Missense_Mutation_p.R764Q	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	963								p.R963Q(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAACTAAGCGGAGAAATATT	0.333																																						uc001pgm.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2887-2889)CGG>CAG		hypothetical protein LOC57562		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	149.0	162.0	158.0		2888	-6.2	0.0	11	dbSNP_134	158	2,8596	2.2+/-6.3	0,2,4297	yes	missense	KIAA1377	NM_020802.2	43	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	benign	963/1118	101849120	3,13001	2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101849120G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2888G>A	11.37:g.101849120G>A	ENSP00000263468:p.Arg963Gln					KIAA1377_uc001pgn.2_Missense_Mutation_p.R919Q|KIAA1377_uc010run.1_Missense_Mutation_p.R764Q	p.R963Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	7	3158	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	963					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.2888G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	1.183	-0.637609	0.03557	2.27E-4	2.33E-4	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.06142	3.34;3.34	5.23	-6.15	0.02105	.	1.588010	0.03474	N	0.214104	T	0.01976	0.0062	N	0.01267	-0.92	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45556	-0.9253	10	0.20046	T	0.44	6.1992	6.3247	0.21237	0.193:0.1212:0.5764:0.1094	.	963	Q9P2H0	K1377_HUMAN	Q	963;764	ENSP00000263468:R963Q;ENSP00000443184:R764Q	ENSP00000263468:R963Q	R	+	2	0	KIAA1377	101354330	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.504000	0.06375	-0.744000	0.04778	-0.259000	0.10710	CGG		0.333	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1		NM_020802		5	180	0	0	0	0.000602	0	5	180		
CACNA1C	775	broad.mit.edu	37	12	2797760	2797760	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:2797760G>A	ENST00000347598.4	+	48	6076	c.6076G>A	c.(6076-6078)Gag>Aag	p.E2026K	CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1997K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E2003K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E2006K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E2049K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1997K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1986K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1978K|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1984K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1995K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1998K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1986K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E2013K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1978K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E2013K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E2019K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E2049K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1997K|CACNA1C-AS1_ENST00000541673.1_RNA	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2061					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAGGGGGTCGAGTCCAGTGA	0.692																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(6181-6183)GAG>AAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						51.0	58.0	56.0					12																	2797760		1947	4134	6081	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797760G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6076G>A	12.37:g.2797760G>A	ENSP00000266376:p.Glu2026Lys					CACNA1C_uc009zdv.1_Missense_Mutation_p.E1975K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1967K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1984K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2019K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1986K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2026K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1998K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1995K|CACNA1C_uc001qku.2_Missense_Mutation_p.E2013K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2006K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1978K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1997K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1785K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1749K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1714K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1774K|CACNA1C_uc010sea.1_Missense_Mutation_p.E669K|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.E296K	p.E2061K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	49	6494	+			2061			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6181G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063784	0.36373	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.21	5.21	0.72293	.	0.983191	0.08314	N	0.964885	T	0.49626	0.1568	L	0.58101	1.795	0.28495	N	0.914301	B;P;P;B;P;P;P;B;B;P;B;P;B;B;B;B;B;B;B;B;P;B;B;P;P	0.41080	0.155;0.623;0.693;0.008;0.482;0.737;0.562;0.146;0.011;0.737;0.233;0.501;0.283;0.146;0.368;0.051;0.283;0.052;0.233;0.027;0.501;0.146;0.233;0.501;0.501	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31101	0.047;0.105;0.09;0.004;0.105;0.124;0.084;0.049;0.025;0.124;0.049;0.062;0.038;0.049;0.028;0.022;0.038;0.04;0.049;0.04;0.062;0.049;0.049;0.062;0.062	T	0.52245	-0.8601	10	0.20046	T	0.44	.	18.7594	0.91845	0.0:0.0:1.0:0.0	.	669;2019;1975;2061;2013;1997;1978;1995;2006;1978;1998;1978;2009;2026;1978;2013;2049;1986;1984;1986;1967;1997;1997;1978;1978	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	2003;1978;1978;2006;1978;1997;1997;1986;1978;2026;1998;1978;2019;1995;2013;1984;1997;1978;2049;2013;2049;1986;1879	ENSP00000336982:E2003K;ENSP00000382563:E1978K;ENSP00000382552:E1978K;ENSP00000382547:E2006K;ENSP00000382506:E1978K;ENSP00000382530:E1997K;ENSP00000382546:E1997K;ENSP00000382500:E1986K;ENSP00000382549:E1978K;ENSP00000266376:E2026K;ENSP00000382515:E1998K;ENSP00000382510:E1978K;ENSP00000341092:E2019K;ENSP00000382537:E1995K;ENSP00000329877:E2013K;ENSP00000382557:E1984K;ENSP00000385724:E1997K;ENSP00000382512:E1978K;ENSP00000382542:E2049K;ENSP00000382526:E2013K;ENSP00000385896:E2049K;ENSP00000382504:E1986K	ENSP00000323129:E1879K	E	+	1	0	CACNA1C	2668021	1.000000	0.71417	0.835000	0.33067	0.133000	0.20885	5.846000	0.69444	2.428000	0.82296	0.462000	0.41574	GAG		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		13	53	0	0	0	0.013537	0	13	53		
FGF6	2251	broad.mit.edu	37	12	4553375	4553375	+	Missense_Mutation	SNP	C	C	T	rs532205756		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:4553375C>T	ENST00000228837.2	-	2	417	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	125					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.R125Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CACCACGCCTCGCTCCACAGT	0.537																																						uc001qmr.1		NaN																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(373-375)CGA>CAA		fibroblast growth factor 6 precursor							83.0	69.0	74.0					12																	4553375		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4553375C>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.374G>A	12.37:g.4553375C>T	ENSP00000228837:p.Arg125Gln						p.R125Q	NM_020996	NP_066276	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		2	418	-			125					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.374G>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375391	0.42105	.	.	ENSG00000111241	ENST00000543077;ENST00000228837	D;D	0.81659	-1.52;-1.52	5.63	3.76	0.43208	.	0.049913	0.85682	N	0.000000	T	0.75243	0.3823	M	0.75777	2.31	0.58432	D	0.999997	P	0.40931	0.733	B	0.32211	0.142	T	0.72343	-0.4322	10	0.36615	T	0.2	.	11.0175	0.47698	0.0:0.8002:0.1299:0.0698	.	125	P10767	FGF6_HUMAN	Q	4;125	ENSP00000445479:R4Q;ENSP00000228837:R125Q	ENSP00000228837:R125Q	R	-	2	0	FGF6	4423636	1.000000	0.71417	0.995000	0.50966	0.800000	0.45204	5.999000	0.70665	0.697000	0.31718	0.561000	0.74099	CGA		0.537	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1		NM_020996		9	36	0	0	0	0.010729	0	9	36		
PZP	5858	broad.mit.edu	37	12	9353646	9353646	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:9353646C>G	ENST00000261336.2	-	6	540	c.512G>C	c.(511-513)aGa>aCa	p.R171T	PZP_ENST00000381997.2_Missense_Mutation_p.R40T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	171					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATTCGATTTCTTCTTGGGTT	0.438																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(511-513)AGA>ACA		pregnancy-zone protein precursor							105.0	99.0	101.0					12																	9353646		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9353646C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.512G>C	12.37:g.9353646C>G	ENSP00000261336:p.Arg171Thr					PZP_uc009zgl.2_Missense_Mutation_p.R40T	p.R171T	NM_002864	NP_002855					6	541	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.512G>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	5.742	0.321277	0.10845	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73789	-0.78;-0.78	3.15	0.054	0.14308	Alpha-2-macroglobulin, N-terminal (1);	0.229752	0.29876	U	0.010975	T	0.74981	0.3788	M	0.85041	2.73	0.09310	N	1	P;B	0.52316	0.952;0.082	P;B	0.51582	0.674;0.139	T	0.63844	-0.6545	10	0.20046	T	0.44	.	3.084	0.06272	0.2104:0.5313:0.0:0.2582	.	40;171	P20742-2;P20742	.;PZP_HUMAN	T	171;40	ENSP00000261336:R171T;ENSP00000371427:R40T	ENSP00000261336:R171T	R	-	2	0	PZP	9244913	0.000000	0.05858	0.003000	0.11579	0.680000	0.39746	-3.151000	0.00582	-0.119000	0.11830	0.313000	0.20887	AGA		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864		13	60	0	0	0	0.003163	0	13	60		
PPFIBP1	8496	broad.mit.edu	37	12	27844717	27844717	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:27844717G>A	ENST00000318304.8	+	27	3022	c.2739G>A	c.(2737-2739)ttG>ttA	p.L913L	PPFIBP1_ENST00000228425.6_Silent_p.L907L|PPFIBP1_ENST00000537927.1_Silent_p.L760L|PPFIBP1_ENST00000542629.1_Silent_p.L882L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	913					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTGGGAATTTGAGAAAGAAGA	0.353																																						uc001ric.1		NaN																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(2737-2739)TTG>TTA		PTPRF interacting protein binding protein 1							109.0	109.0	109.0					12																	27844717		2203	4300	6503	SO:0001819	synonymous_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27844717G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2739G>A	12.37:g.27844717G>A						PPFIBP1_uc010sjr.1_Silent_p.L744L|PPFIBP1_uc001rib.1_Silent_p.L907L|PPFIBP1_uc001ria.2_Silent_p.L882L|PPFIBP1_uc001rid.1_Silent_p.L760L|PPFIBP1_uc001rif.1_Silent_p.L420L	p.L913L	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			27	3116	+	Lung SC(9;0.0873)		913					O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	c.2739G>A	CCDS55812.1																																																																																				0.353	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1		NM_003622		12	63	0	0	0	0.013537	0	12	63		
PDZRN4	29951	broad.mit.edu	37	12	41587902	41587902	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:41587902C>T	ENST00000402685.2	+	3	763	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	252	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGAACATCGACTGAAGGA	0.318																																						uc010skn.1		NaN																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(157-159)TCG>TTG		PDZ domain containing RING finger 4 isoform 2							53.0	52.0	52.0					12																	41587902		1568	3582	5150	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41587902C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.755C>T	12.37:g.41587902C>T	ENSP00000384197:p.Ser252Leu						p.S53L	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			3	226	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	252			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.158C>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651666	0.47362	.	.	ENSG00000165966	ENST00000402685	T	0.72282	-0.64	4.63	3.74	0.42951	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.56529	0.1991	L	0.28344	0.845	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.52396	-0.8581	9	0.37606	T	0.19	1.821	11.6327	0.51185	0.0:0.9154:0.0:0.0846	.	252	Q6ZMN7	PZRN4_HUMAN	L	252	ENSP00000384197:S252L	ENSP00000384197:S252L	S	+	2	0	PDZRN4	39874169	0.906000	0.30813	0.002000	0.10522	0.111000	0.19643	3.863000	0.56016	1.269000	0.44280	0.591000	0.81541	TCG		0.318	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1		NM_013377		4	29	0	0	0	0.009096	0	4	29		
DAZAP2	9802	broad.mit.edu	37	12	51636147	51636147	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:51636147C>G	ENST00000412716.3	+	4	1028	c.412C>G	c.(412-414)Cag>Gag	p.Q138E	DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.Q106E|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000551313.1_Missense_Mutation_p.Q78E|DAZAP2_ENST00000449723.3_Missense_Mutation_p.Q116E|DAZAP2_ENST00000439799.2_Missense_Mutation_p.Q56E|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549555.1_Nonsense_Mutation_p.S112*			Q15038	DAZP2_HUMAN	DAZ associated protein 2	138						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CAATGCTGCTCAGCTTGCAGT	0.537																																						uc010snd.1		NaN																	0					0						c.(334-336)TCA>TGA		DAZ associated protein 2 isoform c							297.0	279.0	285.0					12																	51636147		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636147C>G	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.412C>G	12.37:g.51636147C>G	ENSP00000394699:p.Gln138Glu					DAZAP2_uc001ryb.2_Missense_Mutation_p.Q116E|DAZAP2_uc010snc.1_Missense_Mutation_p.Q56E|DAZAP2_uc010sne.1_Missense_Mutation_p.Q106E|DAZAP2_uc010snf.1_Intron	p.S112*	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN			4	519	+			Error:Variant_position_missing_in_Q15038_after_alignment					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Nonsense_Mutation	SNP	ENST00000412716.3	37	c.335C>G	CCDS8809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.87|19.87	3.907254|3.907254	0.72868|0.72868	.|.	.|.	ENSG00000183283|ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313|ENST00000549555	T;T;T;T;T|.	0.58210|.	0.35;0.35;0.35;0.35;0.35|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78489|.	0.4291|.	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999995|0.999995	P;P;P|.	0.47677|.	0.899;0.646;0.843|.	D;P;P|.	0.68621|.	0.959;0.523;0.848|.	T|.	0.80567|.	-0.1325|.	10|.	0.72032|0.72032	D|D	0.01|0.01	-0.1515|-0.1515	18.4195|18.4195	0.90584|0.90584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106;56;138|.	C9JP84;C9JA96;Q15038|.	.;.;DAZP2_HUMAN|.	E|X	138;56;106;116;78|112	ENSP00000394699:Q138E;ENSP00000398804:Q56E;ENSP00000446554:Q106E;ENSP00000412812:Q116E;ENSP00000447842:Q78E|.	ENSP00000394699:Q138E|ENSP00000448051:S112X	Q|S	+|+	1|2	0|0	DAZAP2|DAZAP2	49922414|49922414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.971000|6.971000	0.76105|0.76105	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.537	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2		NM_014764		7	333	0	0	0	0.001984	0	7	333		
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:56478817G>C	ENST00000267101.3	+	3	713	c.273G>C	c.(271-273)atG>atC	p.M91I	ERBB3_ENST00000411731.2_Missense_Mutation_p.M91I|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.M32I	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	91					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.M91I(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473																																						uc001sjh.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(271-273)ATG>ATC		erbB-3 isoform 1 precursor							176.0	147.0	157.0					12																	56478817		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56478817G>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.273G>C	12.37:g.56478817G>C	ENSP00000267101:p.Met91Ile					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I	p.M91I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	466	+			91			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.273G>C	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141661	0.37825	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.82	4.91	0.64330	EGF receptor, L domain (1);	0.071573	0.64402	D	0.000012	T	0.69223	0.3087	L	0.31926	0.97	0.80722	D	1	B;B	0.26445	0.01;0.149	B;B	0.23419	0.016;0.046	T	0.65340	-0.6192	10	0.39692	T	0.17	.	8.6273	0.33897	0.0769:0.0:0.7697:0.1534	.	91;91	P21860;P21860-2	ERBB3_HUMAN;.	I	91;32;91;91;91;32;32	ENSP00000448636:M91I;ENSP00000449138:M32I;ENSP00000267101:M91I;ENSP00000415753:M91I;ENSP00000449713:M32I;ENSP00000408340:M32I	ENSP00000267101:M91I	M	+	3	0	ERBB3	54765084	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.048000	0.57390	1.409000	0.46915	0.655000	0.94253	ATG		0.473	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				33	83	0	0	0	0.012213	0	33	83		
ESYT1	23344	broad.mit.edu	37	12	56531825	56531825	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:56531825C>A	ENST00000394048.5	+	20	2478	c.2214C>A	c.(2212-2214)ctC>ctA	p.L738L	ESYT1_ENST00000541590.1_Silent_p.L748L|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Silent_p.L748L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	738				L -> F (in Ref. 2; BAB15139). {ECO:0000305}.	lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGTGCGTCTCACCACAGTCT	0.473																																						uc001sjq.2		NaN																	0				ovary(4)|skin(1)	5						c.(2212-2214)CTC>CTA		extended synaptotagmin-like protein 1							148.0	136.0	140.0					12																	56531825		2203	4300	6503	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56531825C>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2214C>A	12.37:g.56531825C>A						ESYT1_uc001sjr.2_Silent_p.L748L	p.L738L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			20	2264	+			738	L -> F (in Ref. 2; BAB15139).				A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.2214C>A	CCDS8904.1																																																																																				0.473	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1		NM_015292		36	93	1	0	2.51541e-25	0.004878	2.76314e-25	36	93		
LRP1	4035	broad.mit.edu	37	12	57556275	57556275	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:57556275G>A	ENST00000243077.3	+	14	2844	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	793					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGAGATCCGAATGTATGAT	0.607																																						uc001snd.2		NaN																	0		p.R793*(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(2377-2379)CGA>CAA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						66.0	61.0	63.0					12																	57556275		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556275G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2378G>A	12.37:g.57556275G>A	ENSP00000243077:p.Arg793Gln						p.R793Q	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2844	+			793			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2378G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515011	0.64634	.	.	ENSG00000123384	ENST00000243077	D	0.90133	-2.62	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.90549	0.7038	N	0.21194	0.64	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.87276	0.2289	10	0.16896	T	0.51	.	17.3274	0.87252	0.0:0.0:1.0:0.0	.	793	Q07954	LRP1_HUMAN	Q	793	ENSP00000243077:R793Q	ENSP00000243077:R793Q	R	+	2	0	LRP1	55842542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.368000	0.66133	2.709000	0.92574	0.563000	0.77884	CGA		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		7	77	0	0	0	0.001984	0	7	77		
PTPRB	5787	broad.mit.edu	37	12	70970178	70970178	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:70970178G>A	ENST00000261266.5	-	9	2201	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	PTPRB_ENST00000538708.1_Silent_p.F724F|PTPRB_ENST00000451516.2_Silent_p.F634F|PTPRB_ENST00000550857.1_Silent_p.F634F|PTPRB_ENST00000334414.6_Silent_p.F942F|PTPRB_ENST00000551525.1_Silent_p.F941F|PTPRB_ENST00000550358.1_Intron	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	724	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCTTGGCTGAAGGAGTGAT	0.512																																						uc001swb.3		NaN																	0				lung(2)|skin(1)	3						c.(2170-2172)TTC>TTT		protein tyrosine phosphatase, receptor type, B							60.0	61.0	61.0					12																	70970178		1993	4172	6165	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70970178G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2172C>T	12.37:g.70970178G>A						PTPRB_uc010sto.1_Silent_p.F724F|PTPRB_uc010stp.1_Silent_p.F634F|PTPRB_uc001swc.3_Silent_p.F942F|PTPRB_uc001swa.3_Intron|PTPRB_uc001swd.3_Silent_p.F941F|PTPRB_uc009zrr.1_Silent_p.F821F	p.F724F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		9	2202	-	Renal(347;0.236)		724			Fibronectin type-III 8.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.2172C>T	CCDS44944.1																																																																																				0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1				4	20	0	0	0	0.000602	0	4	20		
NAP1L1	4673	broad.mit.edu	37	12	76447602	76447602	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:76447602C>G	ENST00000261182.8	-	9	1204	c.718G>C	c.(718-720)Gat>Cat	p.D240H	NAP1L1_ENST00000535020.2_Missense_Mutation_p.D240H|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D240H|NAP1L1_ENST00000547993.1_Missense_Mutation_p.D57H|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D198H|NAP1L1_ENST00000393263.3_Missense_Mutation_p.D240H|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D199H|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D251H|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D177H|NAP1L1_ENST00000544816.1_Missense_Mutation_p.D57H|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D172H	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	240					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TCAGAATCATCTGGTTCTGAC	0.348																																						uc001sxw.2		NaN																	0				ovary(1)|skin(1)	2						c.(718-720)GAT>CAT		nucleosome assembly protein 1-like 1							81.0	81.0	81.0					12																	76447602		2203	4299	6502	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76447602C>G		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.718G>C	12.37:g.76447602C>G	ENSP00000261182:p.Asp240His					NAP1L1_uc001sxv.2_Missense_Mutation_p.D198H|NAP1L1_uc001sxz.2_Missense_Mutation_p.D171H|NAP1L1_uc001sxx.2_Missense_Mutation_p.D240H|NAP1L1_uc001sxy.2_Missense_Mutation_p.D177H|NAP1L1_uc010sty.1_Missense_Mutation_p.D197H|NAP1L1_uc010stz.1_Missense_Mutation_p.D57H|NAP1L1_uc010sua.1_Missense_Mutation_p.D240H|NAP1L1_uc001syb.2_Missense_Mutation_p.D240H|NAP1L1_uc001sya.2_Missense_Mutation_p.D198H|NAP1L1_uc001syc.2_Missense_Mutation_p.D251H	p.D240H	NM_139207	NP_631946	P55209	NP1L1_HUMAN			9	1130	-		Colorectal(145;0.09)	240					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.718G>C	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800912	0.90538	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74589	0.3736	M	0.86740	2.835	0.80722	D	1	D;D;D;D;P;P;P	0.76494	0.999;0.99;0.999;0.999;0.833;0.8;0.861	D;D;D;D;P;P;P	0.78314	0.979;0.979;0.979;0.991;0.695;0.569;0.809	T	0.78593	-0.2144	10	0.72032	D	0.01	.	19.6583	0.95853	0.0:1.0:0.0:0.0	.	240;198;251;240;172;177;240	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	H	240;234;240;172;177;57;198;240;240;57;251;199;213;240;199	ENSP00000261182:D240H;ENSP00000450236:D234H;ENSP00000376947:D240H;ENSP00000409795:D172H;ENSP00000448167:D177H;ENSP00000437507:D57H;ENSP00000444759:D198H;ENSP00000445008:D240H;ENSP00000447793:D240H;ENSP00000448007:D57H;ENSP00000447196:D251H;ENSP00000449649:D199H;ENSP00000448133:D213H;ENSP00000448764:D240H;ENSP00000446787:D199H	ENSP00000261182:D240H	D	-	1	0	NAP1L1	74733869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.641000	0.89580	0.644000	0.83932	GAT		0.348	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3		NM_139207		17	33	0	0	0	0.00499	0	17	33		
NTN4	59277	broad.mit.edu	37	12	96104265	96104265	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:96104265G>C	ENST00000343702.4	-	5	1582	c.1134C>G	c.(1132-1134)ttC>ttG	p.F378L	NTN4_ENST00000553059.1_Missense_Mutation_p.F378L|NTN4_ENST00000538383.1_Missense_Mutation_p.F341L|NTN4_ENST00000344911.4_Missense_Mutation_p.F341L|NTN4_ENST00000552603.1_5'Flank	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	378	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGTCACGATAGAAGCCTGGCT	0.483																																						uc001tei.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1132-1134)TTC>TTG		netrin 4 precursor							207.0	145.0	166.0					12																	96104265		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96104265G>C	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1134C>G	12.37:g.96104265G>C	ENSP00000340998:p.Phe378Leu					NTN4_uc009ztf.2_Missense_Mutation_p.F378L|NTN4_uc009ztg.2_Missense_Mutation_p.F341L	p.F378L	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			5	1583	-			378			Laminin EGF-like 2.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1134C>G	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038383	0.75617	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.39	4.45	0.53987	EGF-like, laminin (4);	0.045522	0.85682	D	0.000000	T	0.79551	0.4465	M	0.86740	2.835	0.54753	D	0.999988	D;P	0.54047	0.964;0.868	P;P	0.54544	0.742;0.755	D	0.83669	0.0165	10	0.87932	D	0	.	13.4433	0.61125	0.0799:0.0:0.9201:0.0	.	378;378	Q9HB63-2;Q9HB63	.;NET4_HUMAN	L	378;341;341;378	ENSP00000340998:F378L;ENSP00000339436:F341L;ENSP00000444432:F341L;ENSP00000447292:F378L	ENSP00000340998:F378L	F	-	3	2	NTN4	94628396	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	3.210000	0.51129	1.336000	0.45506	-0.345000	0.07892	TTC		0.483	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1		NM_021229		13	52	0	0	0	0.013537	0	13	52		
UTP20	27340	broad.mit.edu	37	12	101686964	101686964	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:101686964G>A	ENST00000261637.4	+	11	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	398					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGCAGATTTGAAAAACGTTT	0.353																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(1192-1194)GAA>AAA		down-regulated in metastasis							94.0	101.0	98.0					12																	101686964		2202	4300	6502	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101686964G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1192G>A	12.37:g.101686964G>A	ENSP00000261637:p.Glu398Lys						p.E398K	NM_014503	NP_055318	O75691	UTP20_HUMAN			11	1348	+			398					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1192G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175686	0.38413	.	.	ENSG00000120800	ENST00000261637	T	0.65549	-0.16	5.21	4.31	0.51392	Armadillo-type fold (1);	0.157466	0.56097	D	0.000023	T	0.47967	0.1474	L	0.36672	1.1	0.39910	D	0.974012	B	0.10296	0.003	B	0.08055	0.003	T	0.41016	-0.9532	10	0.09338	T	0.73	-21.9501	13.169	0.59587	0.0765:0.0:0.9235:0.0	.	398	O75691	UTP20_HUMAN	K	398	ENSP00000261637:E398K	ENSP00000261637:E398K	E	+	1	0	UTP20	100211095	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.711000	0.68400	2.423000	0.82170	0.650000	0.86243	GAA		0.353	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		15	39	0	0	0	0.00245	0	15	39		
CCDC53	51019	broad.mit.edu	37	12	102455053	102455053	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:102455053G>A	ENST00000240079.6	-	2	284	c.123C>T	c.(121-123)ctC>ctT	p.L41L	RP11-554E23.4_ENST00000552707.1_RNA|CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Silent_p.L41L	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	41						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AAAAGCGGTTGAGGAACTGTA	0.438																																						uc010svw.1		NaN																	0					0						c.(121-123)CTC>CTT		coiled-coil domain containing 53							101.0	93.0	96.0					12																	102455053		1965	4158	6123	SO:0001819	synonymous_variant	51019					WASH complex	protein binding	g.chr12:102455053G>A	AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.123C>T	12.37:g.102455053G>A						CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Silent_p.L41L	p.L41L	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN			2	282	-			41					B2RC74|Q53FF0|Q6IAI4|Q96QK0	Silent	SNP	ENST00000240079.6	37	c.123C>T	CCDS44959.1																																																																																				0.438	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1		NM_016053		11	34	0	0	0	0.00245	0	11	34		
STAB2	55576	broad.mit.edu	37	12	104071314	104071314	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:104071314G>C	ENST00000388887.2	+	25	2934	c.2730G>C	c.(2728-2730)gaG>gaC	p.E910D		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACTGCTCGGAGATCAACAACT	0.572																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(2728-2730)GAG>GAC		stabilin 2 precursor							94.0	95.0	95.0					12																	104071314		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104071314G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2730G>C	12.37:g.104071314G>C	ENSP00000373539:p.Glu910Asp						p.E910D	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			25	2916	+			910			Extracellular (Potential).|EGF-like 9.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2730G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780992	0.31502	.	.	ENSG00000136011	ENST00000388887	T	0.37411	1.2	5.55	0.984	0.19773	Growth factor, receptor (1);Epidermal growth factor-like, type 3 (1);	0.486731	0.21236	N	0.077887	T	0.12561	0.0305	N	0.11927	0.2	0.09310	N	0.999999	P	0.43094	0.799	B	0.35413	0.202	T	0.33471	-0.9867	10	0.02654	T	1	.	7.0561	0.25099	0.2016:0.2597:0.5387:0.0	.	910	Q8WWQ8	STAB2_HUMAN	D	910	ENSP00000373539:E910D	ENSP00000373539:E910D	E	+	3	2	STAB2	102595444	0.312000	0.24545	0.774000	0.31636	0.615000	0.37417	0.020000	0.13466	0.280000	0.22209	0.563000	0.77884	GAG		0.572	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				33	89	0	0	0	0.013726	0	33	89		
MORN3	283385	broad.mit.edu	37	12	122091125	122091125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:122091125C>T	ENST00000355329.3	-	4	674	c.504G>A	c.(502-504)atG>atA	p.M168I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	168						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCGTTCTTCATGCCTCTCT	0.587																																						uc001uax.2		NaN																	0					0						c.(502-504)ATG>ATA		MORN repeat containing 3							63.0	56.0	59.0					12																	122091125		2203	4300	6503	SO:0001583	missense	283385							g.chr12:122091125C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.504G>A	12.37:g.122091125C>T	ENSP00000347486:p.Met168Ile					MORN3_uc001uay.2_Intron	p.M168I	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	4	675	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		168			MORN 6.		Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.504G>A	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920646	0.33908	.	.	ENSG00000139714	ENST00000355329	T	0.40476	1.03	5.06	4.15	0.48705	.	0.307462	0.38164	N	0.001793	T	0.29126	0.0724	N	0.21617	0.685	0.34410	D	0.696253	B	0.14012	0.009	B	0.16722	0.016	T	0.27331	-1.0077	10	0.13853	T	0.58	.	15.2409	0.73468	0.0:0.8583:0.1417:0.0	.	168	Q6PF18	MORN3_HUMAN	I	168	ENSP00000347486:M168I	ENSP00000347486:M168I	M	-	3	0	MORN3	120575508	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.206000	0.65192	1.234000	0.43709	0.561000	0.74099	ATG		0.587	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1		NM_173855		9	44	0	0	0	0.006214	0	9	44		
HCAR2	338442	broad.mit.edu	37	12	123187019	123187019	+	Missense_Mutation	SNP	G	G	A	rs199788788		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:123187019G>A	ENST00000328880.5	-	1	871	c.812C>T	c.(811-813)tCg>tTg	p.S271L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	271					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAGGTCCACCGAGCGGTACAC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		23836	0.001		0.0	False		,,,				2504	0.0					uc001ucx.1		NaN																	0					0						c.(811-813)TCG>TTG		G protein-coupled receptor 109A	Mepenzolate(DB04843)|Niacin(DB00627)						46.0	42.0	44.0					12																	123187019		2203	4294	6497	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187019G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.812C>T	12.37:g.123187019G>A	ENSP00000375066:p.Ser271Leu					GPR81_uc001ucw.1_Intron	p.S271L	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	886	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		271			Extracellular (Potential).		A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.812C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	6.239	0.412226	0.11812	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.70631	-0.5	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.353602	0.24014	N	0.042349	T	0.58680	0.2139	L	0.41632	1.29	0.09310	N	1	B	0.33171	0.4	B	0.34452	0.183	T	0.47018	-0.9149	10	0.11182	T	0.66	-17.3605	11.7461	0.51821	0.0:0.1777:0.8223:0.0	.	271	Q8TDS4	HCAR2_HUMAN	L	271	ENSP00000375066:S271L	ENSP00000375066:S271L	S	-	2	0	HCAR2	121752972	0.004000	0.15560	0.114000	0.21550	0.021000	0.10359	0.531000	0.23052	2.746000	0.94184	0.563000	0.77884	TCG		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1		NM_177551		5	52	0	0	0	0.000602	0	5	52		
RNF17	56163	broad.mit.edu	37	13	25428222	25428222	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:25428222G>C	ENST00000255324.5	+	25	3602	c.3550G>C	c.(3550-3552)Gag>Cag	p.E1184Q	RNF17_ENST00000339524.3_Missense_Mutation_p.E236Q|RNF17_ENST00000381921.1_Missense_Mutation_p.E1184Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1184					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAACGTATTTGAGGCAACAGT	0.393																																						uc001upr.2		NaN																	0				ovary(1)|skin(1)	2						c.(3550-3552)GAG>CAG		ring finger protein 17							130.0	129.0	129.0					13																	25428222		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25428222G>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3550G>C	13.37:g.25428222G>C	ENSP00000255324:p.Glu1184Gln					RNF17_uc010tdd.1_Missense_Mutation_p.E1043Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E1180Q|RNF17_uc001ups.2_Missense_Mutation_p.E1123Q|RNF17_uc010aac.2_Missense_Mutation_p.E382Q|RNF17_uc010aad.2_Missense_Mutation_p.E236Q	p.E1184Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	25	3591	+		Lung SC(185;0.0225)|Breast(139;0.077)	1184					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3550G>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861414	0.32884	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	4.86	4.86	0.63082	Maternal tudor protein (1);	0.305084	0.29980	N	0.010711	T	0.05731	0.0150	N	0.14661	0.345	0.80722	D	1	P;B;B;B	0.39094	0.659;0.067;0.23;0.327	B;B;B;B	0.34873	0.191;0.07;0.077;0.145	T	0.47674	-0.9099	10	0.14252	T	0.57	-7.0231	11.5468	0.50698	0.0:0.1805:0.8195:0.0	.	1180;236;1184;1184	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	Q	1184;1184;1043;508;236	ENSP00000255324:E1184Q;ENSP00000371346:E1184Q;ENSP00000388892:E508Q;ENSP00000344776:E236Q	ENSP00000255324:E1184Q	E	+	1	0	RNF17	24326222	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.939000	0.48995	2.684000	0.91462	0.591000	0.81541	GAG		0.393	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1		NM_031994		7	38	0	0	0	0.001984	0	7	38		
RB1	5925	broad.mit.edu	37	13	48881462	48881462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:48881462C>T	ENST00000267163.4	+	2	322	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	62					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)|p.Q62*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGCATTATGTCAGAAATTAAA	0.323		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		19	Whole gene deletion(15)|Unknown(3)|Substitution - Nonsense(1)	p.0?(13)|p.?(3)|p.Q62*(1)	bone(10)|eye(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|soft_tissue(1)|endometrium(1)|stomach(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(184-186)CAG>TAG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						134.0	135.0	135.0					13																	48881462		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881462C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.184C>T	13.37:g.48881462C>T	ENSP00000267163:p.Gln62*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.Q62*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	350	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	62					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.184C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	37	5.990111	0.97179	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.83	4.83	0.62350	.	0.291280	0.35262	N	0.003329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	13.7951	0.63166	0.0:1.0:0.0:0.0	.	.	.	.	X	41;62	.	ENSP00000267163:Q62X	Q	+	1	0	RB1	47779463	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.190000	0.42630	2.373000	0.80994	0.650000	0.86243	CAG		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				6	26	0	0	0	0.001168	0	6	26		
RNF219	79596	broad.mit.edu	37	13	79219061	79219061	+	Silent	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:79219061A>G	ENST00000282003.6	-	2	202	c.144T>C	c.(142-144)aaT>aaC	p.N48N		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	48							zinc ion binding (GO:0008270)			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)		ACTGGCTATTATTCTTCAACC	0.368																																						uc001vkw.1		NaN																	0				large_intestine(2)	2						c.(142-144)AAT>AAC		ring finger protein 219							144.0	133.0	137.0					13																	79219061		2203	4300	6503	SO:0001819	synonymous_variant	79596						zinc ion binding	g.chr13:79219061A>G	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.144T>C	13.37:g.79219061A>G						RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.N48N	p.N48N	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	2	203	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	48			RING-type; degenerate.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	c.144T>C	CCDS31997.1																																																																																				0.368	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1		NM_024546		20	66	0	0	0	0.008871	0	20	66		
RBM26	64062	broad.mit.edu	37	13	79939829	79939829	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:79939829T>C	ENST00000438737.2	-	9	1741	c.1301A>G	c.(1300-1302)aAt>aGt	p.N434S	RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000267229.7_Missense_Mutation_p.N434S|RBM26_ENST00000438724.1_Missense_Mutation_p.N434S			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	434					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCTTCAGGATTGTAGCCATC	0.353																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(1315-1317)AAT>AGT		RNA binding motif protein 26							168.0	154.0	159.0					13																	79939829		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79939829T>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1301A>G	13.37:g.79939829T>C	ENSP00000387531:p.Asn434Ser					RBM26_uc001vky.2_Missense_Mutation_p.N434S|RBM26_uc001vla.2_Missense_Mutation_p.N434S|RBM26_uc001vkx.2_Missense_Mutation_p.N146S	p.N439S	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	9	1330	-		Acute lymphoblastic leukemia(28;0.0279)	434					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.1316A>G		.	.	.	.	.	.	.	.	.	.	T	24.1	4.489788	0.84962	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.56103	0.51;0.48	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.76071	0.987;0.985;0.987	T	0.68172	-0.5479	9	.	.	.	-23.6219	15.1142	0.72388	0.0:0.0:0.0:1.0	.	434;434;434	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	S	434;435;434;434	ENSP00000267229:N434S;ENSP00000390222:N434S	.	N	-	2	0	RBM26	78837830	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.460000	0.80816	2.031000	0.59945	0.260000	0.18958	AAT		0.353	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		7	62	0	0	0	0.00308	0	7	62		
KDELC1	79070	broad.mit.edu	37	13	103450976	103450976	+	Silent	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr13:103450976A>C	ENST00000376004.4	-	1	381	c.45T>G	c.(43-45)gtT>gtG	p.V15V	BIVM_ENST00000419638.1_5'Flank|BIVM_ENST00000257336.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	15						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGAGTGCTGGAACTGTCGCCA	0.532																																						uc001vpq.3		NaN																	0				ovary(1)	1						c.(43-45)GTT>GTG		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							59.0	58.0	59.0					13																	103450976		2203	4300	6503	SO:0001819	synonymous_variant	79070					endoplasmic reticulum lumen		g.chr13:103450976A>C	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.45T>G	13.37:g.103450976A>C						KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	p.V15V	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			1	429	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		15					Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	c.45T>G	CCDS9504.1																																																																																				0.532	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1				12	43	0	0	0	0.013537	0	12	43		
OR4L1	122742	broad.mit.edu	37	14	20528789	20528789	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:20528789G>A	ENST00000315683.1	+	1	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATACACCCTGGAATTATTTGT	0.408																																						uc001vwn.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(586-588)GAA>AAA		olfactory receptor, family 4, subfamily L,							224.0	206.0	212.0					14																	20528789		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528789G>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.586G>A	14.37:g.20528789G>A	ENSP00000319217:p.Glu196Lys						p.E196K	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	586	+	all_cancers(95;0.00108)		196			Helical; Name=5; (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.586G>A	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	18.00	3.525648	0.64860	.	.	ENSG00000176246	ENST00000315683	T	0.00207	8.55	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	T	0.00412	0.0013	M	0.64567	1.98	0.09310	N	0.999999	D	0.59357	0.985	P	0.62089	0.898	T	0.61138	-0.7123	10	0.44086	T	0.13	.	14.8025	0.69926	0.0:0.0:1.0:0.0	.	196	Q8NH43	OR4L1_HUMAN	K	196	ENSP00000319217:E196K	ENSP00000319217:E196K	E	+	1	0	OR4L1	19598629	0.001000	0.12720	0.896000	0.35187	0.843000	0.47879	0.760000	0.26475	2.423000	0.82170	0.650000	0.86243	GAA		0.408	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1				59	80	0	0	0	0.01441	0	59	80		
MRPL52	122704	broad.mit.edu	37	14	23299420	23299420	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:23299420C>T	ENST00000355151.5	+	3	144	c.114C>T	c.(112-114)tcC>tcT	p.S38S	MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000397505.2_Silent_p.S38S|MRPL52_ENST00000397496.3_Silent_p.S37S|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000432849.3_Silent_p.S37S	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	38					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCAACCCCTCCGGCTACGGGC	0.597																																						uc001wgw.3		NaN																	0					0						c.(112-114)TCC>TCT		mitochondrial ribosomal protein L52 isoform a							55.0	66.0	62.0					14																	23299420		2203	4300	6503	SO:0001819	synonymous_variant	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23299420C>T	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"""Mitochondrial ribosomal proteins / large subunits"""	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.114C>T	14.37:g.23299420C>T						MRPL52_uc001wgx.3_Silent_p.S37S|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Silent_p.S38S	p.S38S	NM_178336	NP_848026	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	3	144	+	all_cancers(95;9.47e-05)		38					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Silent	SNP	ENST00000355151.5	37	c.114C>T	CCDS41917.1																																																																																				0.597	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4		NM_180982		27	94	0	0	0	0.007291	0	27	94		
ZFYVE26	23503	broad.mit.edu	37	14	68265271	68265271	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:68265271G>C	ENST00000347230.4	-	11	1846	c.1708C>G	c.(1708-1710)Ctg>Gtg	p.L570V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L570V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	570					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCAGGCACAGAGAGTCAGGA	0.478																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(1708-1710)CTG>GTG		zinc finger, FYVE domain containing 26							77.0	68.0	71.0					14																	68265271		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68265271G>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1708C>G	14.37:g.68265271G>C	ENSP00000251119:p.Leu570Val					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.L570V|ZFYVE26_uc010tta.1_Missense_Mutation_p.L570V	p.L570V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	1847	-			570					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1708C>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335145	0.60853	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.34859	1.49;1.34	5.82	-6.36	0.01969	.	0.069650	0.64402	D	0.000019	T	0.33000	0.0848	L	0.57536	1.79	0.22081	N	0.999376	P;B;B	0.51537	0.946;0.275;0.049	P;B;B	0.46253	0.509;0.067;0.03	T	0.44544	-0.9321	10	0.62326	D	0.03	-7.713	12.8399	0.57794	0.2496:0.1078:0.6426:0.0	.	570;570;570	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	V	570;549;570	ENSP00000251119:L570V;ENSP00000450603:L570V	ENSP00000251119:L570V	L	-	1	2	ZFYVE26	67335024	0.229000	0.23729	0.531000	0.27976	0.836000	0.47400	0.267000	0.18552	-1.065000	0.03168	-0.946000	0.02672	CTG		0.478	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		5	47	0	0	0	0.000602	0	5	47		
ZFYVE26	23503	broad.mit.edu	37	14	68273295	68273295	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:68273295C>G	ENST00000347230.4	-	6	1122	c.984G>C	c.(982-984)ctG>ctC	p.L328L	ZFYVE26_ENST00000555452.1_Silent_p.L328L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	328					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTTGTTGCTCAGGCAGTAGA	0.498																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(982-984)CTG>CTC		zinc finger, FYVE domain containing 26							104.0	96.0	99.0					14																	68273295		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68273295C>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.984G>C	14.37:g.68273295C>G						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L328L|ZFYVE26_uc010tta.1_Silent_p.L328L	p.L328L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	6	1123	-			328					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.984G>C	CCDS9788.1																																																																																				0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		7	34	0	0	0	0.001984	0	7	34		
ZFP36L1	677	broad.mit.edu	37	14	69257106	69257106	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:69257106G>C	ENST00000439696.2	-	2	462	c.161C>G	c.(160-162)tCa>tGa	p.S54*	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S54*|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	54					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGGTGACTGAGTGCCTCCG	0.632											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NaN																	0				ovary(1)	1						c.(160-162)TCA>TGA		butyrate response factor 1							22.0	22.0	22.0					14																	69257106		2203	4300	6503	SO:0001587	stop_gained	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69257106G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.161C>G	14.37:g.69257106G>C	ENSP00000388402:p.Ser54*		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Nonsense_Mutation_p.S54*	p.S54*	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	291	-			54					Q13851	Nonsense_Mutation	SNP	ENST00000439696.2	37	c.161C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.505543	0.85282	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022;ENST00000553375	.	.	.	4.64	4.64	0.57946	.	0.156720	0.44097	U	0.000482	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.2219	17.3858	0.87415	0.0:0.0:1.0:0.0	.	.	.	.	X	54;54;54;60;32;123	.	ENSP00000337386:S54X	S	-	2	0	ZFP36L1	68326859	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	9.207000	0.95064	2.415000	0.81967	0.574000	0.79327	TCA		0.632	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				11	22	0	0	0	0.008291	0	11	22		
TTC9	23508	broad.mit.edu	37	14	71137855	71137855	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:71137855G>C	ENST00000256367.2	+	3	995	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	218										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		CTCCCAGAGAGAAAAAGAAGC	0.557																																						uc001xmi.2		NaN																	0					0						c.(652-654)GAA>CAA		tetratricopeptide repeat domain 9							78.0	74.0	76.0					14																	71137855		1921	4123	6044	SO:0001583	missense	23508						binding	g.chr14:71137855G>C	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.652G>C	14.37:g.71137855G>C	ENSP00000256367:p.Glu218Gln						p.E218Q	NM_015351	NP_056166	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	3	995	+			218					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.652G>C	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341939	0.81911	.	.	ENSG00000133985	ENST00000256367	T	0.17691	2.26	5.23	5.23	0.72850	.	0.075993	0.53938	D	0.000054	T	0.14917	0.0360	L	0.38175	1.15	0.80722	D	1	P	0.36144	0.539	B	0.28709	0.093	T	0.03651	-1.1016	10	0.35671	T	0.21	-13.4172	18.9944	0.92806	0.0:0.0:1.0:0.0	.	218	Q92623	TTC9A_HUMAN	Q	218	ENSP00000256367:E218Q	ENSP00000256367:E218Q	E	+	1	0	TTC9	70207608	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	9.016000	0.93645	2.726000	0.93360	0.655000	0.94253	GAA		0.557	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1		XM_027236		7	28	0	0	0	0.001984	0	7	28		
PTPN21	11099	broad.mit.edu	37	14	88945434	88945434	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:88945434C>T	ENST00000556564.1	-	13	2625	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	PTPN21_ENST00000328736.3_Missense_Mutation_p.A781T	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	781					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGGCCTCTGCGGTCGTGCGG	0.697																																						uc001xwv.3		NaN																	0				ovary(3)|skin(1)	4						c.(2341-2343)GCA>ACA		protein tyrosine phosphatase, non-receptor type							38.0	37.0	37.0					14																	88945434		2203	4298	6501	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945434C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2341G>A	14.37:g.88945434C>T	ENSP00000452414:p.Ala781Thr					PTPN21_uc010twc.1_Missense_Mutation_p.A577T	p.A781T	NM_007039	NP_008970	Q16825	PTN21_HUMAN			13	2672	-			781						Missense_Mutation	SNP	ENST00000556564.1	37	c.2341G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	8.690	0.907257	0.17833	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71698	-0.59;-0.59	5.02	-1.28	0.09318	.	1.779840	0.02603	N	0.101259	T	0.55257	0.1909	N	0.22421	0.69	0.09310	N	1	B	0.25486	0.127	B	0.15870	0.014	T	0.35425	-0.9789	10	0.17832	T	0.49	.	10.4647	0.44600	0.0:0.5936:0.0:0.4064	.	781	Q16825	PTN21_HUMAN	T	781	ENSP00000330276:A781T;ENSP00000452414:A781T	ENSP00000330276:A781T	A	-	1	0	PTPN21	88015187	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.349000	0.20055	-0.066000	0.12998	-0.373000	0.07131	GCA		0.697	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1				7	45	0	0	0	0.001984	0	7	45		
TDP1	55775	broad.mit.edu	37	14	90442142	90442142	+	Silent	SNP	G	G	A	rs139270583	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:90442142G>A	ENST00000335725.4	+	7	1024	c.774G>A	c.(772-774)gcG>gcA	p.A258A	TDP1_ENST00000555880.1_Silent_p.A258A|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Silent_p.A258A|TDP1_ENST00000393452.3_Silent_p.A258A|TDP1_ENST00000357382.3_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	258					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGATATTGCGTTTGGAACAC	0.373								Repair of DNA-protein crosslinks																														uc001xxy.2		NaN																	0				ovary(2)	2						c.(772-774)GCG>GCA	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1		G	,	2,4404	4.2+/-10.8	0,2,2201	203.0	194.0	197.0		774,774	0.4	1.0	14	dbSNP_134	197	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous,coding-synonymous	TDP1	NM_001008744.1,NM_018319.3	,	0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846	,	258/609,258/609	90442142	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90442142G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.774G>A	14.37:g.90442142G>A						TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.A258A|TDP1_uc010atn.2_Silent_p.A258A|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.A258A	p.A258A	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	7	1073	+		all_cancers(154;0.185)	258					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.774G>A	CCDS9888.1																																																																																				0.373	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1		NM_018319		18	98	0	0	0	0.006122	0	18	98		
SLC25A47	283600	broad.mit.edu	37	14	100795778	100795778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:100795778C>G	ENST00000361529.3	+	6	801	c.723C>G	c.(721-723)atC>atG	p.I241M	SLC25A47_ENST00000557052.1_Missense_Mutation_p.I95M	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	241					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGGACGTGATCAAGTCGAGAC	0.667																																					GBM(11;1289 1351)	uc001yhc.2		NaN																	0					0						c.(721-723)ATC>ATG		chromosome 14 open reading frame 68							54.0	58.0	57.0					14																	100795778		2203	4300	6503	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795778C>G		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.723C>G	14.37:g.100795778C>G	ENSP00000354886:p.Ile241Met					C14orf68_uc001yhd.2_Missense_Mutation_p.I95M	p.I241M	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			6	796	+		Melanoma(154;0.152)	241			Solcar 3.		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.723C>G	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117999	0.56505	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.81415	-1.49;-1.49	5.39	3.5	0.40072	Mitochondrial carrier domain (2);	0.215085	0.48286	D	0.000196	D	0.87845	0.6280	M	0.85299	2.745	0.46609	D	0.999124	D	0.63046	0.992	D	0.73380	0.98	D	0.87020	0.2128	10	0.87932	D	0	-1.636	5.4374	0.16488	0.0:0.6272:0.158:0.2148	.	241	Q6Q0C1	S2547_HUMAN	M	241;95	ENSP00000354886:I241M;ENSP00000451078:I95M	ENSP00000354886:I241M	I	+	3	3	SLC25A47	99865531	0.997000	0.39634	1.000000	0.80357	0.803000	0.45373	0.459000	0.21908	1.214000	0.43395	0.561000	0.74099	ATC		0.667	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1				9	58	0	0	0	0.004482	0	9	58		
BRF1	2972	broad.mit.edu	37	14	105688029	105688029	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr14:105688029G>A	ENST00000546474.1	-	11	16230	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	BRF1_ENST00000549044.1_5'Flank|BRF1_ENST00000440513.3_Missense_Mutation_p.S309L|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.S220L|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.S309L|BRF1_ENST00000446501.2_Missense_Mutation_p.S186L|BRF1_ENST00000379937.2_Missense_Mutation_p.S397L	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	424					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GATGGAGTCTGAGATGCCCAG	0.672																																						uc001yqp.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1270-1272)TCA>TTA		transcription initiation factor IIIB isoform 1							19.0	24.0	22.0					14																	105688029		2202	4298	6500	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105688029G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1271C>T	14.37:g.105688029G>A	ENSP00000448323:p.Ser424Leu					BRF1_uc010tyo.1_Missense_Mutation_p.S309L|BRF1_uc010typ.1_Missense_Mutation_p.S309L|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Missense_Mutation_p.S220L|BRF1_uc001yqo.2_Missense_Mutation_p.S186L|BRF1_uc010axg.1_Missense_Mutation_p.S397L|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	p.S424L	NM_001519	NP_001510	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	11	1634	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	424					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.1271C>T	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535480	0.27475	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000327359;ENST00000440513;ENST00000547562;ENST00000549655	.	.	.	4.64	3.74	0.42951	.	0.316588	0.32852	N	0.005563	T	0.55752	0.1940	L	0.46157	1.445	0.80722	D	1	B;B;B	0.21753	0.046;0.046;0.06	B;B;B	0.26864	0.074;0.059;0.044	T	0.53940	-0.8367	9	0.42905	T	0.14	.	12.8315	0.57748	0.0:0.1657:0.8343:0.0	.	309;397;424	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	L	220;397;424;186;309;309;144;220	.	ENSP00000329029:S309L	S	-	2	0	BRF1	104759074	1.000000	0.71417	0.778000	0.31720	0.061000	0.15899	3.742000	0.55097	1.057000	0.40506	0.561000	0.74099	TCA		0.672	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4		NM_001519		6	19	0	0	0	0.001984	0	6	19		
FMN1	342184	broad.mit.edu	37	15	33358805	33358805	+	Intron	SNP	G	G	C	rs200932670	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:33358805G>C	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.L427L|FMN1_ENST00000334528.9_Silent_p.L427L|FMN1_ENST00000561249.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTGCGCTTGAGAGCTTCCA	0.532													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18595	0.001		0.0	False		,,,				2504	0.0					uc001zhf.3		NaN																	0				ovary(1)	1						c.(1279-1281)CTC>CTG		formin 1							53.0	53.0	53.0					15																	33358805		1974	4160	6134	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358805G>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1530C>G	15.37:g.33358805G>C						FMN1_uc001zhg.2_Silent_p.L427L	p.L427L	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1281	-		all_lung(180;1.14e-07)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1281C>G																																																																																					0.532	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184		6	21	0	0	0	0.001984	0	6	21		
RAD51	5888	broad.mit.edu	37	15	40993283	40993283	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:40993283G>A	ENST00000267868.3	+	3	377	c.109G>A	c.(109-111)Gat>Aat	p.D37N	RAD51_ENST00000532743.1_Missense_Mutation_p.D37N|RAD51_ENST00000557850.1_Missense_Mutation_p.D37N|RAD51_ENST00000382643.3_Missense_Mutation_p.D37N|RAD51_ENST00000423169.2_Missense_Mutation_p.D37N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	37					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)			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)		AAATGCCAACGATGTGAAGAA	0.383								Homologous recombination																														uc001zmi.3		NaN																	0					0						c.(109-111)GAT>AAT	Homologous_recombination	RAD51 homolog protein isoform 1							92.0	93.0	92.0					15																	40993283		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.chr15:40993283G>A	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.109G>A	15.37:g.40993283G>A	ENSP00000267868:p.Asp37Asn					RAD51_uc010bbw.2_Missense_Mutation_p.D37N|RAD51_uc010bbx.2_Missense_Mutation_p.D37N|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.D37N|RAD51_uc001zmm.1_RNA|RAD51_uc001zmn.1_5'UTR	p.D37N	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	408	+		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)	37					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.109G>A	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	G	36	5.951918	0.97139	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643;ENST00000526763	T;T;T;T;T;T	0.56776	0.78;0.44;0.85;0.89;0.89;0.78	6.04	6.04	0.98038	DNA repair Rad51/transcription factor NusA, alpha-helical (1);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77004	0.989;0.966;0.942	T	0.79403	-0.1818	10	0.87932	D	0	-22.4783	20.5948	0.99439	0.0:0.0:1.0:0.0	.	37;37;37	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	N	37	ENSP00000432759:D37N;ENSP00000406602:D37N;ENSP00000267868:D37N;ENSP00000433924:D37N;ENSP00000372088:D37N;ENSP00000431897:D37N	ENSP00000267868:D37N	D	+	1	0	RAD51	38780575	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.709000	0.98729	2.873000	0.98535	0.563000	0.77884	GAT		0.383	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1		NM_002875, NM_133487		10	44	0	0	0	0.008291	0	10	44		
DNAJC17	55192	broad.mit.edu	37	15	41071455	41071455	+	Missense_Mutation	SNP	C	C	G	rs571440654		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:41071455C>G	ENST00000220496.4	-	4	291	c.261G>C	c.(259-261)caG>caC	p.Q87H		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	87					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATCAAGTTTCTGGGTCCTCT	0.507																																						uc001zms.1		NaN																	0					0						c.(259-261)CAG>CAC		DnaJ (Hsp40) homolog, subfamily C, member 17							271.0	212.0	232.0					15																	41071455		2203	4300	6503	SO:0001583	missense	55192				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding	g.chr15:41071455C>G	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.261G>C	15.37:g.41071455C>G	ENSP00000220496:p.Gln87His					DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	p.Q87H	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	272	-		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	87						Missense_Mutation	SNP	ENST00000220496.4	37	c.261G>C	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332705	0.41297	.	.	ENSG00000104129	ENST00000220496	T	0.18657	2.2	5.63	3.77	0.43336	Heat shock protein DnaJ, N-terminal (1);	0.049341	0.85682	D	0.000000	T	0.21267	0.0512	L	0.57536	1.79	0.46849	D	0.99922	B	0.15141	0.012	B	0.17979	0.02	T	0.03231	-1.1058	10	0.51188	T	0.08	.	9.1148	0.36750	0.0:0.7685:0.0:0.2315	.	87	Q9NVM6	DJC17_HUMAN	H	87	ENSP00000220496:Q87H	ENSP00000220496:Q87H	Q	-	3	2	DNAJC17	38858747	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.725000	0.25970	0.753000	0.32945	-0.142000	0.14014	CAG		0.507	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2		NM_018163		14	89	0	0	0	0.003163	0	14	89		
INO80	54617	broad.mit.edu	37	15	41272569	41272569	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:41272569G>A	ENST00000361937.3	-	36	4947	c.4523C>T	c.(4522-4524)tCa>tTa	p.S1508L	INO80_ENST00000401393.3_Missense_Mutation_p.S1508L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1508	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGAGGCGCTTGAAGGTCCAAA	0.547																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(4522-4524)TCA>TTA		INO80 complex homolog 1							62.0	64.0	63.0					15																	41272569		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41272569G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4523C>T	15.37:g.41272569G>A	ENSP00000355205:p.Ser1508Leu					INO80_uc010ucu.1_RNA	p.S1508L	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			36	4736	-			1508			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.4523C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297116	0.40694	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91180	-2.8;-2.8	5.4	5.4	0.78164	.	0.342769	0.31450	N	0.007629	T	0.81917	0.4924	N	0.14661	0.345	0.47065	D	0.999306	B	0.25667	0.131	B	0.16289	0.015	T	0.79157	-0.1919	10	0.56958	D	0.05	.	12.661	0.56813	0.0748:0.0:0.9252:0.0	.	1508	Q9ULG1	INO80_HUMAN	L	1508	ENSP00000355205:S1508L;ENSP00000384686:S1508L	ENSP00000355205:S1508L	S	-	2	0	INO80	39059861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.027000	0.49697	2.814000	0.96858	0.655000	0.94253	TCA		0.547	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		10	52	0	0	0	0.008291	0	10	52		
GANC	2595	broad.mit.edu	37	15	42632010	42632010	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:42632010A>C	ENST00000318010.8	+	17	2227	c.1987A>C	c.(1987-1989)Acc>Ccc	p.T663P		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	663					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GGAGGAACACACCCGACTCAT	0.572																																						uc001zpi.2		NaN																	0				central_nervous_system(2)	2						c.(1987-1989)ACC>CCC		glucosidase, alpha; neutral C							68.0	55.0	60.0					15																	42632010		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42632010A>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1987A>C	15.37:g.42632010A>C	ENSP00000326227:p.Thr663Pro						p.T663P	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2301	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	663					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1987A>C	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751975	0.69533	.	.	ENSG00000214013	ENST00000318010	D	0.93307	-3.2	6.02	6.02	0.97574	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	M	0.92784	3.345	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.97562	1.0099	10	0.45353	T	0.12	-14.8812	16.542	0.84395	1.0:0.0:0.0:0.0	.	663	Q8TET4	GANC_HUMAN	P	663	ENSP00000326227:T663P	ENSP00000326227:T663P	T	+	1	0	GANC	40419302	1.000000	0.71417	0.991000	0.47740	0.326000	0.28443	8.829000	0.92055	2.304000	0.77564	0.528000	0.53228	ACC		0.572	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2		NM_198141		5	41	0	0	0	0.001168	0	5	41		
GANC	2595	broad.mit.edu	37	15	42632035	42632035	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:42632035G>C	ENST00000318010.8	+	17	2252	c.2012G>C	c.(2011-2013)aGa>aCa	p.R671T		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	671					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GAAGCCATCAGAGAGCGCTAT	0.542																																						uc001zpi.2		NaN																	0				central_nervous_system(2)	2						c.(2011-2013)AGA>ACA		glucosidase, alpha; neutral C							64.0	49.0	54.0					15																	42632035		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42632035G>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2012G>C	15.37:g.42632035G>C	ENSP00000326227:p.Arg671Thr						p.R671T	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2326	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	671					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2012G>C	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475483	0.63737	.	.	ENSG00000214013	ENST00000318010	D	0.91464	-2.85	6.02	2.71	0.32032	Glycoside hydrolase, superfamily (1);	0.391272	0.31636	N	0.007319	D	0.90137	0.6918	M	0.74647	2.275	0.40821	D	0.983507	B	0.32365	0.367	B	0.39771	0.309	D	0.87986	0.2746	10	0.44086	T	0.13	-8.9477	10.0655	0.42301	0.3434:0.0:0.6566:0.0	.	671	Q8TET4	GANC_HUMAN	T	671	ENSP00000326227:R671T	ENSP00000326227:R671T	R	+	2	0	GANC	40419327	0.368000	0.25031	0.853000	0.33588	0.960000	0.62799	0.997000	0.29731	0.881000	0.35993	0.650000	0.86243	AGA		0.542	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2		NM_198141		6	41	0	0	0	0.001168	0	6	41		
DMXL2	23312	broad.mit.edu	37	15	51758502	51758502	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:51758502G>C	ENST00000251076.5	-	30	7683	c.7396C>G	c.(7396-7398)Ctt>Gtt	p.L2466V	DMXL2_ENST00000449909.3_Missense_Mutation_p.L1830V|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2467V|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2466						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GACAAAGGAAGAAATGGCTGC	0.239																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(7396-7398)CTT>GTT		Dmx-like 2							62.0	61.0	62.0					15																	51758502		2195	4290	6485	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51758502G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7396C>G	15.37:g.51758502G>C	ENSP00000251076:p.Leu2466Val					DMXL2_uc002abd.2_Missense_Mutation_p.L537V|DMXL2_uc010ufy.1_Missense_Mutation_p.L2467V|DMXL2_uc010bfa.2_Missense_Mutation_p.L1830V	p.L2466V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	30	7621	-			2466					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7396C>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566553	0.65651	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.25912	1.91;1.91;1.77	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	M	0.69358	2.11	0.58432	D	0.999999	P;D;D;P	0.69078	0.734;0.982;0.997;0.589	B;D;D;B	0.72625	0.203;0.952;0.978;0.263	T	0.27806	-1.0063	10	0.27785	T	0.31	.	18.8489	0.92218	0.0:0.0:1.0:0.0	.	2467;1830;2466;2467	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	V	2466;2467;1830;11	ENSP00000251076:L2466V;ENSP00000441858:L2467V;ENSP00000400855:L1830V	ENSP00000251076:L2466V	L	-	1	0	DMXL2	49545794	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.154000	0.77437	2.697000	0.92050	0.556000	0.70494	CTT		0.239	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		13	51	0	0	0	0.001855	0	13	51		
TMOD2	29767	broad.mit.edu	37	15	52074980	52074980	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:52074980G>A	ENST00000249700.4	+	7	908	c.687G>A	c.(685-687)aaG>aaA	p.K229K	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Silent_p.K185K	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	229					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CTCACGTGAAGAAGTTCAGCC	0.433																																						uc002abk.2		NaN																	0				ovary(2)	2						c.(685-687)AAG>AAA		neuronal tropomodulin isoform a							151.0	152.0	152.0					15																	52074980		2195	4293	6488	SO:0001819	synonymous_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52074980G>A	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.687G>A	15.37:g.52074980G>A						TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Silent_p.K185K	p.K229K	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	7	908	+			229					B4DEW6	Silent	SNP	ENST00000249700.4	37	c.687G>A	CCDS10144.1																																																																																				0.433	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2				5	159	0	0	0	0.000602	0	5	159		
TMOD2	29767	broad.mit.edu	37	15	52075011	52075011	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:52075011G>C	ENST00000249700.4	+	7	939	c.718G>C	c.(718-720)Gac>Cac	p.D240H	TMOD2_ENST00000435126.2_Intron|TMOD2_ENST00000539962.2_Missense_Mutation_p.D196H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	240					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TCGCAGCAATGACCCTGTGGC	0.393																																						uc002abk.2		NaN																	0				ovary(2)	2						c.(718-720)GAC>CAC		neuronal tropomodulin isoform a							111.0	114.0	113.0					15																	52075011		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52075011G>C	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.718G>C	15.37:g.52075011G>C	ENSP00000249700:p.Asp240His					TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Missense_Mutation_p.D196H	p.D240H	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	7	939	+			240					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.718G>C	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627222	0.87560	.	.	ENSG00000128872	ENST00000249700;ENST00000539962	T;T	0.25579	1.79;1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	H	0.95645	3.7	0.80722	D	1	P	0.49961	0.93	P	0.51742	0.678	T	0.71586	-0.4548	10	0.87932	D	0	-29.1052	19.4568	0.94895	0.0:0.0:1.0:0.0	.	240	Q9NZR1	TMOD2_HUMAN	H	240;196	ENSP00000249700:D240H;ENSP00000437743:D196H	ENSP00000249700:D240H	D	+	1	0	TMOD2	49862303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.063000	0.93927	2.832000	0.97577	0.655000	0.94253	GAC		0.393	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2				4	121	0	0	0	0.009096	0	4	121		
FAM63B	54629	broad.mit.edu	37	15	59123984	59123984	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:59123984G>C	ENST00000559228.1	+	6	1319	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	FAM63B_ENST00000450403.2_Missense_Mutation_p.E413Q			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	413										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTTGTAGCTGAGCAGTTTCT	0.338																																						uc002afj.2		NaN																	0				central_nervous_system(1)	1						c.(1237-1239)GAG>CAG		hypothetical protein LOC54629 isoform a							109.0	100.0	103.0					15																	59123984		1857	4101	5958	SO:0001583	missense	54629							g.chr15:59123984G>C	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1237G>C	15.37:g.59123984G>C	ENSP00000452885:p.Glu413Gln					FAM63B_uc002afi.2_Missense_Mutation_p.E413Q|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_Intron	p.E413Q	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			6	1439	+			413					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1237G>C	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419160	0.83559	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.46451	0.87	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	N	0.25144	0.715	0.80722	D	1	P;P	0.45531	0.609;0.86	B;P	0.54140	0.336;0.743	T	0.11641	-1.0579	10	0.18276	T	0.48	-2.058	19.8711	0.96851	0.0:0.0:1.0:0.0	.	413;413	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	Q	413	ENSP00000393231:E413Q	ENSP00000326194:E413Q	E	+	1	0	FAM63B	56911276	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.689000	0.91719	0.591000	0.81541	GAG		0.338	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1		NM_019092		5	54	0	0	0	0.000602	0	5	54		
TLN2	83660	broad.mit.edu	37	15	62944237	62944237	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:62944237C>G	ENST00000561311.1	+	5	498	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q90E			Q9Y4G6	TLN2_HUMAN	talin 2	90	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAGAGACCTCAGAAAATCCG	0.403																																						uc002alb.3		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(268-270)CAG>GAG		talin 2							85.0	88.0	87.0					15																	62944237		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62944237C>G	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.268C>G	15.37:g.62944237C>G	ENSP00000453508:p.Gln90Glu						p.Q90E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			3	268	+			90			FERM.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.268C>G	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992387	0.74703	.	.	ENSG00000171914	ENST00000306829	T	0.74632	-0.86	5.92	5.92	0.95590	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	L	0.27053	0.805	0.58432	D	0.999996	P	0.42161	0.772	B	0.36766	0.232	T	0.70714	-0.4796	10	0.87932	D	0	-17.418	19.2991	0.94136	0.0:1.0:0.0:0.0	.	90	Q9Y4G6	TLN2_HUMAN	E	90	ENSP00000303476:Q90E	ENSP00000303476:Q90E	Q	+	1	0	TLN2	60731529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.735000	0.84939	2.813000	0.96785	0.591000	0.81541	CAG		0.403	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2				10	36	0	0	0	0.006214	0	10	36		
HERC1	8925	broad.mit.edu	37	15	63930948	63930948	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:63930948C>G	ENST00000443617.2	-	62	12016	c.11929G>C	c.(11929-11931)Gat>Cat	p.D3977H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3977					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATTTGTTCATCCATGCCGTTA	0.393																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(11929-11931)GAT>CAT		hect domain and RCC1-like domain 1							277.0	262.0	267.0					15																	63930948		1887	4114	6001	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63930948C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11929G>C	15.37:g.63930948C>G	ENSP00000390158:p.Asp3977His						p.D3977H	NM_003922	NP_003913	Q15751	HERC1_HUMAN			62	12077	-			3977					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.11929G>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930278	0.92389	.	.	ENSG00000103657	ENST00000443617	T	0.59906	0.23	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.77718	-0.2483	10	0.87932	D	0	.	19.4316	0.94772	0.0:1.0:0.0:0.0	.	3977	Q15751	HERC1_HUMAN	H	3977	ENSP00000390158:D3977H	ENSP00000390158:D3977H	D	-	1	0	HERC1	61718001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.606000	0.88127	0.655000	0.94253	GAT		0.393	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		12	236	0	0	0	0.013537	0	12	236		
ANKDD1A	348094	broad.mit.edu	37	15	65242076	65242076	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:65242076C>G	ENST00000380230.3	+	14	1395	c.1366C>G	c.(1366-1368)Cag>Gag	p.Q456E	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.Q333E|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.Q456E|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.Q424E	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	456	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGGAGCTATCAGGAGCACGG	0.622																																						uc002aoa.2		NaN																	0				ovary(1)	1						c.(1366-1368)CAG>GAG		ankyrin repeat and death domain containing 1A							64.0	62.0	63.0					15																	65242076		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65242076C>G		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1366C>G	15.37:g.65242076C>G	ENSP00000369579:p.Gln456Glu					ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.Q333E	p.Q456E	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			14	1395	+			456			Death.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1366C>G	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181542	0.38511	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.96	3.02	0.34903	Death (2);DEATH-like (2);	0.340601	0.22121	N	0.064332	T	0.74801	0.3764	L	0.46157	1.445	0.80722	D	1	B	0.24721	0.11	B	0.28465	0.09	T	0.61831	-0.6982	10	0.06365	T	0.9	-6.6263	5.6267	0.17487	0.1432:0.6373:0.1391:0.0804	.	456	Q495B1	AKD1A_HUMAN	E	456;424;456;333	ENSP00000369579:Q456E;ENSP00000350329:Q424E;ENSP00000379070:Q456E;ENSP00000379073:Q333E	ENSP00000350329:Q424E	Q	+	1	0	ANKDD1A	63029129	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	1.212000	0.32394	1.318000	0.45170	0.655000	0.94253	CAG		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2		NM_182703		3	79	0	0	0	0.004672	0	3	79		
CLK3	1198	broad.mit.edu	37	15	74912356	74912356	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:74912356C>T	ENST00000395066.3	+	3	1064	c.603C>T	c.(601-603)gaC>gaT	p.D201D	CLK3_ENST00000348245.3_Silent_p.D53D|CLK3_ENST00000345005.4_Silent_p.D53D|CLK3_ENST00000352989.5_Silent_p.D53D	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	201	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCAGCCATGACCGCCTGCCCT	0.587																																					Ovarian(133;694 1754 28950 29027 31859)	uc010uln.1		NaN																	0				stomach(2)	2						c.(601-603)GAC>GAT		CDC-like kinase 3 isoform a							97.0	85.0	89.0					15																	74912356		2197	4296	6493	SO:0001819	synonymous_variant	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74912356C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.603C>T	15.37:g.74912356C>T						CLK3_uc002ayg.3_Silent_p.D53D|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.D201D|CLK3_uc002ayj.3_Silent_p.D53D|CLK3_uc002ayk.3_5'UTR	p.D201D	NM_001130028	NP_001123500	P49761	CLK3_HUMAN			3	1064	+			201			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	ENST00000395066.3	37	c.603C>T	CCDS45304.1																																																																																				0.587	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3				13	51	0	0	0	0.00245	0	13	51		
EDC3	80153	broad.mit.edu	37	15	74927826	74927826	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:74927826G>C	ENST00000315127.4	-	6	1297	c.1116C>G	c.(1114-1116)gtC>gtG	p.V372V	EDC3_ENST00000568176.1_Silent_p.V372V|EDC3_ENST00000426797.3_Silent_p.V372V	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	372	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCAACATCTTGACAAAATTGG	0.522											OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ayn.2		NaN																	0				ovary(1)	1						c.(1114-1116)GTC>GTG		enhancer of mRNA decapping 3							175.0	142.0	153.0					15																	74927826		2197	4296	6493	SO:0001819	synonymous_variant	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74927826G>C	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.1116C>G	15.37:g.74927826G>C			OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	EDC3_uc002ayo.2_Silent_p.V372V|EDC3_uc002aym.2_Silent_p.V372V	p.V372V	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN			9	1604	-			372			YjeF N-terminal.		B3KPH0|D3DW61|Q9H797	Silent	SNP	ENST00000315127.4	37	c.1116C>G	CCDS10267.1																																																																																				0.522	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1		NM_025083		10	79	0	0	0	0.013537	0	10	79		
NTRK3	4916	broad.mit.edu	37	15	88476307	88476307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr15:88476307C>T	ENST00000360948.2	-	15	1986	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	NTRK3_ENST00000558676.1_Missense_Mutation_p.D601N|NTRK3_ENST00000394480.2_Missense_Mutation_p.D609N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D601N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D609N|NTRK3_ENST00000542733.2_Missense_Mutation_p.D511N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D601N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTCCCCATCGCCGCACACT	0.552			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NaN		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1825-1827)GAT>AAT		neurotrophic tyrosine kinase, receptor, type 3							80.0	70.0	74.0					15																	88476307		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88476307C>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1825G>A	15.37:g.88476307C>T	ENSP00000354207:p.Asp609Asn	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.D601N|NTRK3_uc002bmf.1_Missense_Mutation_p.D609N|NTRK3_uc010upl.1_Missense_Mutation_p.D511N|NTRK3_uc010bnh.1_Missense_Mutation_p.D601N	p.D609N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		15	1987	-			609			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1825G>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470816	0.84533	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	N	0.16656	0.425	0.80722	D	1	D;D;D;D;P	0.89917	0.999;1.0;0.999;0.999;0.954	D;D;D;D;P	0.76575	0.965;0.988;0.983;0.94;0.59	D	0.84294	0.0501	10	0.33940	T	0.23	.	18.3583	0.90365	0.0:1.0:0.0:0.0	.	511;601;601;609;609	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	N	609;609;601;609;511;105	ENSP00000377990:D609N;ENSP00000354207:D609N;ENSP00000350356:D601N;ENSP00000347397:D609N;ENSP00000437773:D511N	ENSP00000342792:D105N	D	-	1	0	NTRK3	86277311	1.000000	0.71417	0.524000	0.27887	0.539000	0.34962	7.636000	0.83301	2.574000	0.86865	0.650000	0.86243	GAT		0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding					6	46	0	0	0	0.001168	0	6	46		
AXIN1	8312	broad.mit.edu	37	16	339472	339472	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:339472G>C	ENST00000262320.3	-	10	2801	c.2430C>G	c.(2428-2430)ttC>ttG	p.F810L	AXIN1_ENST00000354866.3_Missense_Mutation_p.F774L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	810	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCAGCTCCTTGAACTGGCCCA	0.627																																						uc002cgp.1		NaN																	0				breast(1)|liver(1)	2						c.(2428-2430)TTC>TTG		axin 1 isoform a							61.0	59.0	59.0					16																	339472		2203	4299	6502	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:339472G>C	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2430C>G	16.37:g.339472G>C	ENSP00000262320:p.Phe810Leu					AXIN1_uc002cgq.1_Missense_Mutation_p.F774L	p.F810L	NM_003502	NP_003493	O15169	AXIN1_HUMAN			10	2607	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	810			DIX.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2430C>G	CCDS10405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.46|17.46	3.395824|3.395824	0.62177|0.62177	.|.	.|.	ENSG00000103126|ENSG00000103126	ENST00000262320;ENST00000354866|ENST00000457798	T;T|.	0.56941|.	0.43;0.43|.	4.44|4.44	3.48|3.48	0.39840|0.39840	DIX (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73505|.	0.3595|.	M|M	0.79805|0.79805	2.47|2.47	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|.	0.74176|.	-0.3750|.	10|.	0.87932|.	D|.	0|.	-0.5228|-0.5228	12.0738|12.0738	0.53632|0.53632	0.0848:0.0:0.9152:0.0|0.0848:0.0:0.9152:0.0	.|.	774;810|.	O15169-2;O15169|.	.;AXIN1_HUMAN|.	L|X	810;774|62	ENSP00000262320:F810L;ENSP00000346935:F774L|.	ENSP00000262320:F810L|.	F|S	-|-	3|2	2|0	AXIN1|AXIN1	279473|279473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.389000|0.389000	0.30415|0.30415	5.450000|5.450000	0.66626|0.66626	0.877000|0.877000	0.35895|0.35895	0.313000|0.313000	0.20887|0.20887	TTC|TCA		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3				13	52	0	0	0	0.00245	0	13	52		
CDIP1	29965	broad.mit.edu	37	16	4563773	4563773	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:4563773C>G	ENST00000399599.3	-	3	713	c.165G>C	c.(163-165)gaG>gaC	p.E55D	CDIP1_ENST00000563507.1_Missense_Mutation_p.E55D|CDIP1_ENST00000563332.2_Missense_Mutation_p.E55D|CDIP1_ENST00000567695.1_Missense_Mutation_p.E55D|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000564828.1_Missense_Mutation_p.E20D			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1	55	Pro-rich.				apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)											GACCCGGCGGCTCATAGGGTG	0.647																																						uc002cwu.2		NaN																	0				ovary(1)	1						c.(163-165)GAG>GAC		cell death inducing protein							46.0	52.0	50.0					16																	4563773		2018	4171	6189	SO:0001583	missense	29965				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus		g.chr16:4563773C>G	AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"""cell death involved p53-target"", ""lipopolysaccharide-induced TNF factor-like"""	610503	"""chromosome 16 open reading frame 5"""	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.165G>C	16.37:g.4563773C>G	ENSP00000382508:p.Glu55Asp					C16orf5_uc002cwv.2_Missense_Mutation_p.E55D|C16orf5_uc002cww.2_Missense_Mutation_p.E55D|C16orf5_uc010uxl.1_Missense_Mutation_p.E55D|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA	p.E55D	NM_013399	NP_037531	Q9H305	LITFL_HUMAN			3	460	-		Ovarian(90;0.17)	55			Pro-rich.		A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Missense_Mutation	SNP	ENST00000399599.3	37	c.165G>C	CCDS42114.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992638	0.35131	.	.	ENSG00000089486	ENST00000399599	D	0.88046	-2.33	5.48	4.53	0.55603	.	0.048698	0.85682	D	0.000000	D	0.84424	0.5469	N	0.19112	0.55	0.80722	D	1	P;P	0.52842	0.956;0.525	P;B	0.62184	0.899;0.265	T	0.79543	-0.1760	10	0.13853	T	0.58	-18.7961	9.3782	0.38297	0.0:0.7744:0.1455:0.0801	.	55;55	B4DFU1;Q9H305	.;LITFL_HUMAN	D	55	ENSP00000382508:E55D	ENSP00000382508:E55D	E	-	3	2	C16orf5	4503774	0.992000	0.36948	1.000000	0.80357	0.865000	0.49528	0.374000	0.20501	1.313000	0.45069	0.655000	0.94253	GAG		0.647	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435718.2		NM_013399		15	53	0	0	0	0.003163	0	15	53		
NPIPA1	9284	broad.mit.edu	37	16	15045813	15045813	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:15045813C>G	ENST00000328085.6	+	8	984	c.984C>G	c.(982-984)ctC>ctG	p.L328L	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	328	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ATGATAATCTCAAGACACCTC	0.468																																						uc002dcy.3		NaN																	0					0						c.(982-984)CTC>CTG		nuclear pore complex interacting protein							50.0	63.0	58.0					16																	15045813		1400	2400	3800	SO:0001819	synonymous_variant	9284				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		g.chr16:15045813C>G	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.984C>G	16.37:g.15045813C>G						NPIP_uc002dcx.3_RNA	p.L328L	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN			8	984	+			328			Pro-rich.		O15102	Silent	SNP	ENST00000328085.6	37	c.984C>G	CCDS10557.1																																																																																				0.468	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2		NM_006985		4	60	0	0	0	0.001168	0	4	60		
LAT	27040	broad.mit.edu	37	16	28997739	28997739	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:28997739G>A	ENST00000360872.5	+	5	360	c.282G>A	c.(280-282)acG>acA	p.T94T	LAT_ENST00000354453.4_Intron|LAT_ENST00000395456.2_Silent_p.T94T|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000454369.2_Silent_p.T93T|LAT_ENST00000566177.1_Silent_p.T93T|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000395461.3_Silent_p.T130T|LAT_ENST00000564277.1_Silent_p.T93T|RP11-264B17.3_ENST00000569969.1_RNA			O43561	LAT_HUMAN	linker for activation of T cells	94					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CCCACCGGACGCCATCTTCCC	0.627																																						uc002dsd.2		NaN																	0					0						c.(280-282)ACG>ACA		linker for activation of T cells isoform a							36.0	46.0	42.0					16																	28997739		2195	4298	6493	SO:0001819	synonymous_variant	27040				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28997739G>A	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.282G>A	16.37:g.28997739G>A						uc010vct.1_Intron|LAT_uc010vdj.1_Silent_p.T130T|LAT_uc002dsb.2_Silent_p.T94T|LAT_uc002dsc.2_Silent_p.T93T|LAT_uc010vdk.1_Silent_p.T94T|LAT_uc010vdl.1_Silent_p.T93T	p.T94T	NM_014387	NP_055202	O43561	LAT_HUMAN			5	634	+		Hepatocellular(780;0.244)	94			Cytoplasmic (Potential).		B7WPI0|C7C5T6|G5E9K3|O43919	Silent	SNP	ENST00000360872.5	37	c.282G>A	CCDS10647.1																																																																																				0.627	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2				29	67	0	0	0	0.009535	0	29	67		
SPN	6693	broad.mit.edu	37	16	29676187	29676187	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:29676187G>A	ENST00000360121.3	+	2	1230	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	SPN_ENST00000395389.2_Missense_Mutation_p.E380K	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GGTGGCCAGTGAGGATGGGGC	0.652																																						uc002dtm.2		NaN																	0				central_nervous_system(2)	2						c.(1138-1140)GAG>AAG		sialophorin precursor							14.0	17.0	16.0					16																	29676187		2190	4294	6484	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29676187G>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.1138G>A	16.37:g.29676187G>A	ENSP00000353238:p.Glu380Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.E380K|SPN_uc010bzd.2_RNA	p.E380K	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	1274	+			380			Cytoplasmic (Potential).		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.1138G>A	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.533560	0.45073	.	.	ENSG00000197471	ENST00000395389;ENST00000360121	T;T	0.35973	1.28;1.28	4.67	0.942	0.19525	.	0.482175	0.17525	N	0.171098	T	0.27063	0.0663	L	0.49350	1.555	0.09310	N	1	P	0.35507	0.506	B	0.36134	0.218	T	0.10337	-1.0634	10	0.26408	T	0.33	-13.3649	5.551	0.17091	0.4402:0.0:0.5598:0.0	.	380	P16150	LEUK_HUMAN	K	380	ENSP00000378787:E380K;ENSP00000353238:E380K	ENSP00000353238:E380K	E	+	1	0	SPN	29583688	0.002000	0.14202	0.009000	0.14445	0.005000	0.04900	-0.158000	0.10070	0.479000	0.27511	0.467000	0.42956	GAG		0.652	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2				3	14	0	0	0	0.000602	0	3	14		
CORO1A	11151	broad.mit.edu	37	16	30199708	30199708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:30199708C>A	ENST00000219150.5	+	10	1397	c.1092C>A	c.(1090-1092)taC>taA	p.Y364*	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Nonsense_Mutation_p.Y364*	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	364					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						AGGACCTGTACCCACCCACCG	0.647																																						uc002dww.2		NaN																	0					0						c.(1090-1092)TAC>TAA		coronin, actin binding protein, 1A							74.0	79.0	77.0					16																	30199708		2197	4300	6497	SO:0001587	stop_gained	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30199708C>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1092C>A	16.37:g.30199708C>A	ENSP00000219150:p.Tyr364*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Nonsense_Mutation_p.Y364*|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Nonsense_Mutation_p.Y258*|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	p.Y364*	NM_007074	NP_009005	P31146	COR1A_HUMAN			10	1214	+			364					B2RBL1|Q2YD73	Nonsense_Mutation	SNP	ENST00000219150.5	37	c.1092C>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	37	6.128303	0.97305	.	.	ENSG00000102879	ENST00000219150	.	.	.	5.49	1.37	0.22104	.	0.143817	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.2386	8.435	0.32782	0.0:0.5138:0.0:0.4862	.	.	.	.	X	364	.	ENSP00000219150:Y364X	Y	+	3	2	CORO1A	30107209	0.932000	0.31603	0.998000	0.56505	0.941000	0.58515	0.110000	0.15437	0.026000	0.15269	-1.069000	0.02264	TAC		0.647	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2		NM_007074		30	94	1	0	6.05902e-23	0.003755	6.63898e-23	30	94		
GNAO1	2775	broad.mit.edu	37	16	56385394	56385394	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:56385394C>G	ENST00000262493.6	+	7	1668	c.822C>G	c.(820-822)ctC>ctG	p.L274L	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	274					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGAAAGATCTCTTTGGCGAGA	0.498																																						uc002eiu.3		NaN																	0				lung(1)|breast(1)	2						c.(820-822)CTC>CTG		guanine nucleotide binding protein, alpha							144.0	125.0	131.0					16																	56385394		2198	4300	6498	SO:0001819	synonymous_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56385394C>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.822C>G	16.37:g.56385394C>G							p.L274L	NM_020988	NP_066268	P09471	GNAO_HUMAN			7	1719	+		all_neural(199;0.159)	274					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.822C>G	CCDS10756.1																																																																																				0.498	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2		NM_020988		5	58	0	0	0	0.001168	0	5	58		
NLRC5	84166	broad.mit.edu	37	16	57059987	57059987	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:57059987C>A	ENST00000262510.6	+	6	1357	c.1132C>A	c.(1132-1134)Cac>Aac	p.H378N	NLRC5_ENST00000539144.1_Missense_Mutation_p.H378N|NLRC5_ENST00000436936.1_Missense_Mutation_p.H378N|NLRC5_ENST00000308149.7_Missense_Mutation_p.H378N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	378	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATATGTGAATCACTTCTTCAG	0.612																																						uc002ekk.1		NaN																	0				ovary(4)|skin(2)|breast(1)	7						c.(1132-1134)CAC>AAC		nucleotide-binding oligomerization domains 27							84.0	92.0	89.0					16																	57059987		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57059987C>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1132C>A	16.37:g.57059987C>A	ENSP00000262510:p.His378Asn					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.H183N|NLRC5_uc002ekl.2_Missense_Mutation_p.H183N|NLRC5_uc002ekm.2_Missense_Mutation_p.H183N|NLRC5_uc010ccr.1_RNA	p.H378N	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	1357	+		all_neural(199;0.225)	378			NACHT.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1132C>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.003|0.003	-2.461992|-2.461992	0.00171|0.00171	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	T;T;T;T|.	0.80994|.	-1.44;-1.44;-1.44;-1.44|.	5.21|5.21	1.74|1.74	0.24563|0.24563	.|.	0.970022|.	0.08392|.	N|.	0.952781|.	T|.	0.24044|.	0.0582|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.22541|.	0.012;0.001;0.071;0.007|.	B;B;B;B|.	0.19666|.	0.019;0.005;0.015;0.026|.	T|.	0.23154|.	-1.0196|.	10|.	0.46703|.	T|.	0.11|.	.|.	6.7279|6.7279	0.23367|0.23367	0.1346:0.6365:0.0:0.229|0.1346:0.6365:0.0:0.229	.|.	378;378;378;378|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	N|X	378|130	ENSP00000262510:H378N;ENSP00000308886:H378N;ENSP00000389739:H378N;ENSP00000441727:H378N|.	ENSP00000262510:H378N|.	H|S	+|+	1|2	0|0	NLRC5|NLRC5	55617488|55617488	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	0.177000|0.177000	0.16801|0.16801	0.567000|0.567000	0.29293|0.29293	-0.254000|-0.254000	0.11334|0.11334	CAC|TCA		0.612	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206		19	115	1	0	1.01871e-10	0.008871	1.10234e-10	19	115		
CDH16	1014	broad.mit.edu	37	16	66950200	66950200	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:66950200C>T	ENST00000299752.4	-	4	455	c.262G>A	c.(262-264)Gag>Aag	p.E88K	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.E88K|CDH16_ENST00000565796.1_Missense_Mutation_p.E88K|CDH16_ENST00000568632.1_Missense_Mutation_p.E88K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCTGCCTGCTCCTCTCGGTCC	0.622																																						uc002eql.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(262-264)GAG>AAG		cadherin 16 precursor							72.0	64.0	67.0					16																	66950200		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950200C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.262G>A	16.37:g.66950200C>T	ENSP00000299752:p.Glu88Lys					CDH16_uc010cdy.2_Missense_Mutation_p.E88K|CDH16_uc002eqm.2_Missense_Mutation_p.E88K	p.E88K	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	4	335	-		Ovarian(137;0.0563)	88			Extracellular (Potential).|Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.262G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423204	0.43020	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.69806	-0.43;-0.43	4.63	4.63	0.57726	Cadherin (3);Cadherin-like (1);	0.131761	0.51477	D	0.000087	T	0.68375	0.2994	L	0.33753	1.03	0.36580	D	0.87349	P;D;P	0.69078	0.592;0.997;0.533	B;D;B	0.75020	0.099;0.985;0.076	T	0.64618	-0.6365	10	0.08381	T	0.77	-13.734	12.8565	0.57888	0.0:1.0:0.0:0.0	.	88;88;88	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	88;88;60	ENSP00000377619:E88K;ENSP00000299752:E88K	ENSP00000299752:E88K	E	-	1	0	CDH16	65507701	0.966000	0.33281	0.997000	0.53966	0.988000	0.76386	1.488000	0.35551	2.425000	0.82216	0.609000	0.83330	GAG		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062		10	54	0	0	0	0.008291	0	10	54		
PHLPP2	23035	broad.mit.edu	37	16	71701149	71701149	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr16:71701149G>C	ENST00000568954.1	-	12	2094	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L	PHLPP2_ENST00000356272.3_Silent_p.L572L|PHLPP2_ENST00000567016.1_Silent_p.L607L|PHLPP2_ENST00000393524.2_Silent_p.L572L|RNU6-208P_ENST00000362431.1_RNA|PHLPP2_ENST00000360429.3_Silent_p.L572L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	572					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCAGCACCTCGAGGGGGATGT	0.478																																						uc002fax.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1714-1716)CTC>CTG		PH domain and leucine rich repeat protein							123.0	106.0	112.0					16																	71701149		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71701149G>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1716C>G	16.37:g.71701149G>C						PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L572L	p.L572L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			11	1722	-			572			LRR 15.		A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.1716C>G	CCDS32479.1																																																																																				0.478	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020		6	71	0	0	0	0.001168	0	6	71		
CLUH	23277	broad.mit.edu	37	17	2605236	2605236	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:2605236C>G	ENST00000570628.2	-	4	582	c.477G>C	c.(475-477)ctG>ctC	p.L159L	CLUH_ENST00000435359.1_Silent_p.L159L|CLUH_ENST00000538975.1_Silent_p.L159L			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	159					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGAAGACACTCAGGAAGGACA	0.667																																						uc002fuy.1		NaN																	0				breast(2)	2						c.(475-477)CTG>CTC		hypothetical protein LOC23277							64.0	69.0	68.0					17																	2605236		2079	4180	6259	SO:0001819	synonymous_variant	23277						binding	g.chr17:2605236C>G	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.477G>C	17.37:g.2605236C>G						KIAA0664_uc002fux.1_Silent_p.L91L	p.L159L	NM_015229	NP_056044	O75153	K0664_HUMAN			4	563	-			159					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.477G>C	CCDS45572.1																																																																																				0.667	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229		6	42	0	0	0	0.004482	0	6	42		
GGT6	124975	broad.mit.edu	37	17	4461953	4461953	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:4461953C>T	ENST00000574154.1	-	4	1135	c.839G>A	c.(838-840)gGa>gAa	p.G280E	GGT6_ENST00000301395.3_Missense_Mutation_p.G248E|GGT6_ENST00000573591.1_Missense_Mutation_p.G132E|GGT6_ENST00000381550.3_Missense_Mutation_p.G286E			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	280					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCCCAGGTCTCCCGCCAGTAG	0.657																																						uc002fyd.3		NaN																	0				skin(1)	1						c.(838-840)GGA>GAA		gamma-glutamyltransferase 6 isoform a							24.0	25.0	25.0					17																	4461953		2202	4299	6501	SO:0001583	missense	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4461953C>T	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.839G>A	17.37:g.4461953C>T	ENSP00000458307:p.Gly280Glu					GGT6_uc010vsb.1_Missense_Mutation_p.G132E|GGT6_uc002fyc.3_Missense_Mutation_p.G248E|GGT6_uc010vsc.1_Missense_Mutation_p.G286E	p.G280E	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN			4	899	-			280			Extracellular (Potential).		B4DUH4|Q8NCM0	Missense_Mutation	SNP	ENST00000574154.1	37	c.839G>A	CCDS45582.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.024578	0.00414	.	.	ENSG00000167741	ENST00000381550;ENST00000301395;ENST00000414312	T	0.06608	3.28	4.78	0.452	0.16634	.	0.818418	0.11224	N	0.586372	T	0.02193	0.0068	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.08055	0.0;0.0;0.003	T	0.49011	-0.8983	10	0.12766	T	0.61	-3.6969	7.6273	0.28220	0.0:0.6167:0.0:0.3833	.	286;280;248	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	E	280;248;132	ENSP00000301395:G248E	ENSP00000301395:G248E	G	-	2	0	GGT6	4408702	0.000000	0.05858	0.377000	0.26055	0.201000	0.24016	-1.029000	0.03585	0.191000	0.20236	0.645000	0.84053	GGA		0.657	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1		NM_153338		17	5	0	0	0	0.006122	0	17	5		
DHX33	56919	broad.mit.edu	37	17	5365687	5365687	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:5365687C>T	ENST00000225296.3	-	3	830	c.630G>A	c.(628-630)gtG>gtA	p.V210V	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	210	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTGCAGCTTTCACCACTCCAA	0.453																																						uc002gca.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(628-630)GTG>GTA		DEAH (Asp-Glu-Ala-His) box polypeptide 33							82.0	73.0	77.0					17																	5365687		2203	4300	6503	SO:0001819	synonymous_variant	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5365687C>T	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.630G>A	17.37:g.5365687C>T						DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Silent_p.V37V|DHX33_uc010clf.2_Intron	p.V210V	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			3	632	-			210			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	c.630G>A	CCDS11072.1																																																																																				0.453	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2		NM_020162		38	19	0	0	0	0.004878	0	38	19		
CD68	968	broad.mit.edu	37	17	7483018	7483018	+	Missense_Mutation	SNP	C	C	T	rs533214352		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:7483018C>T	ENST00000250092.6	+	1	234	c.23C>T	c.(22-24)tCg>tTg	p.S8L	SNORD10_ENST00000459579.1_RNA|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000417897.1_RNA|AC113189.5_ENST00000415124.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000380498.6_Missense_Mutation_p.S8L|AC113189.5_ENST00000573187.1_RNA|SNORA67_ENST00000384423.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	8					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GTGCTTTTCTCGGGGGCCCTG	0.642																																						uc002ghv.2		NaN																	0					0						c.(22-24)TCG>TTG		CD68 antigen isoform A							31.0	30.0	30.0					17																	7483018		2203	4299	6502	SO:0001583	missense	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7483018C>T	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.23C>T	17.37:g.7483018C>T	ENSP00000250092:p.Ser8Leu					CD68_uc002ghu.2_Missense_Mutation_p.S8L	p.S8L	NM_001251	NP_001242	P34810	CD68_HUMAN			1	214	+			8					B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	ENST00000250092.6	37	c.23C>T	CCDS11114.1	.	.	.	.	.	.	.	.	.	.	C	6.246	0.413509	0.11812	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	T;T	0.36340	1.4;1.26	5.94	-9.46	0.00597	.	2.076890	0.02193	N	0.061505	T	0.15046	0.0363	N	0.04880	-0.145	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.11470	-1.0586	10	0.30854	T	0.27	4.1379	6.8267	0.23887	0.0981:0.1128:0.0981:0.691	.	8;8	P34810;B4DVT4	CD68_HUMAN;.	L	8	ENSP00000250092:S8L;ENSP00000369867:S8L	ENSP00000250092:S8L	S	+	2	0	CD68	7423742	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.722000	0.04958	-1.715000	0.01389	-1.066000	0.02275	TCG		0.642	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3		NM_001251		15	5	0	0	0	0.004007	0	15	5		
TP53	7157	broad.mit.edu	37	17	7578513	7578513	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:7578513C>G	ENST00000269305.4	-	5	606	c.417G>C	c.(415-417)aaG>aaC	p.K139N	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.K139N|TP53_ENST00000445888.2_Missense_Mutation_p.K139N|TP53_ENST00000420246.2_Missense_Mutation_p.K139N|TP53_ENST00000413465.2_Missense_Mutation_p.K139N|TP53_ENST00000359597.4_Missense_Mutation_p.K139N	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	139	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:14660794}.|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K139N(9)|p.0?(8)|p.K139K(7)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K139fs*9(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(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)	CAGGGCAGGTCTTGGCCAGTT	0.567		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		52	Deletion - In frame(15)|Deletion - Frameshift(9)|Substitution - Missense(9)|Whole gene deletion(8)|Substitution - coding silent(7)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)	breast(10)|ovary(9)|urinary_tract(6)|NS(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|lung(3)|upper_aerodigestive_tract(2)|oesophagus(2)|stomach(1)|soft_tissue(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(415-417)AAG>AAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							55.0	55.0	55.0					17																	7578513		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578513C>G	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.417G>C	17.37:g.7578513C>G	ENSP00000269305:p.Lys139Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.K139N|TP53_uc002gih.2_Missense_Mutation_p.K139N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K7N|TP53_uc010cng.1_Missense_Mutation_p.K7N|TP53_uc002gii.1_Missense_Mutation_p.K7N|TP53_uc010cnh.1_Missense_Mutation_p.K139N|TP53_uc010cni.1_Missense_Mutation_p.K139N|TP53_uc002gij.2_Missense_Mutation_p.K139N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K46N|TP53_uc002gio.2_Missense_Mutation_p.K7N|TP53_uc010vug.1_Missense_Mutation_p.K100N	p.K139N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	611	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	139		K -> N (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> E (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.417G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639833	0.47153	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99818	-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92	5.39	3.4	0.38934	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	M	0.77406	2.37	0.58432	D	0.999991	P;D;D;P;D;P;P	0.69078	0.852;0.957;0.997;0.669;0.966;0.7;0.685	B;P;D;B;D;P;B	0.71414	0.426;0.831;0.973;0.211;0.928;0.894;0.187	D	0.97999	1.0359	10	0.87932	D	0	-25.2607	10.6631	0.45714	0.0:0.8408:0.0:0.1592	.	100;139;139;46;139;139;139	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	139;139;139;139;139;139;128;46;7;46;7;139	ENSP00000410739:K139N;ENSP00000352610:K139N;ENSP00000269305:K139N;ENSP00000398846:K139N;ENSP00000391127:K139N;ENSP00000391478:K139N;ENSP00000425104:K7N;ENSP00000423862:K46N;ENSP00000424104:K139N	ENSP00000269305:K139N	K	-	3	2	TP53	7519238	0.972000	0.33761	0.996000	0.52242	0.061000	0.15899	0.226000	0.17776	0.766000	0.33244	-0.137000	0.14449	AAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		41	12	0	0	0	0.013114	0	41	12		
MYH10	4628	broad.mit.edu	37	17	8395764	8395764	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:8395764C>T	ENST00000269243.4	-	32	4567	c.4429G>A	c.(4429-4431)Gag>Aag	p.E1477K	MYH10_ENST00000360416.3_Missense_Mutation_p.E1508K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1498K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1493K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1477					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTCTGGCCTCGGCTTCGGCC	0.592																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(4429-4431)GAG>AAG		myosin, heavy polypeptide 10, non-muscle							58.0	65.0	63.0					17																	8395764		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8395764C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4429G>A	17.37:g.8395764C>T	ENSP00000269243:p.Glu1477Lys					MYH10_uc002glm.2_Missense_Mutation_p.E1508K|MYH10_uc010cnx.2_Missense_Mutation_p.E1486K	p.E1477K	NM_005964	NP_005955	P35580	MYH10_HUMAN			32	4525	-			1477			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4429G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	37	6.107050	0.97291	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;T;T	0.84146	-1.81;-1.81;-1.31;-1.31	5.5	5.5	0.81552	Myosin tail (1);	0.048764	0.85682	D	0.000000	D	0.94542	0.8242	H	0.95114	3.625	0.80722	D	1	D;D;D	0.60160	0.987;0.984;0.987	P;P;P	0.62382	0.901;0.84;0.869	D	0.95517	0.8591	10	0.87932	D	0	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1486;1508;1477	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1477;1508;1498;1493	ENSP00000269243:E1477K;ENSP00000353590:E1508K;ENSP00000379539:E1498K;ENSP00000369315:E1493K	ENSP00000269243:E1477K	E	-	1	0	MYH10	8336489	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.609000	0.82925	2.861000	0.98227	0.655000	0.94253	GAG		0.592	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				4	72	0	0	0	0.009096	0	4	72		
MYH13	8735	broad.mit.edu	37	17	10209797	10209797	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:10209797C>A	ENST00000418404.3	-	36	5608	c.5445G>T	c.(5443-5445)caG>caT	p.Q1815H	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1815H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1815					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTTTCTGGATCTGCTTCTTCC	0.537																																						uc002gmk.1		NaN																	0				ovary(4)|skin(2)	6						c.(5443-5445)CAG>CAT		myosin, heavy polypeptide 13, skeletal muscle							164.0	174.0	170.0					17																	10209797		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209797C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5445G>T	17.37:g.10209797C>A	ENSP00000404570:p.Gln1815His						p.Q1815H	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			37	5535	-			1815			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5445G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714763	0.68730	.	.	ENSG00000006788	ENST00000252172	T	0.78595	-1.19	4.21	4.21	0.49690	Myosin tail (1);	.	.	.	.	D	0.88459	0.6442	M	0.91612	3.225	0.37333	D	0.91005	D	0.60575	0.988	D	0.67382	0.951	D	0.90805	0.4697	9	0.52906	T	0.07	.	10.5664	0.45175	0.0:0.858:0.0:0.1419	.	1815	Q9UKX3	MYH13_HUMAN	H	1815	ENSP00000252172:Q1815H	ENSP00000252172:Q1815H	Q	-	3	2	MYH13	10150522	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.161000	0.31773	2.338000	0.79540	0.561000	0.74099	CAG		0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		19	184	1	0	8.00594e-06	0.007413	8.47344e-06	19	184		
UNC119	9094	broad.mit.edu	37	17	26879509	26879509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:26879509G>A	ENST00000335765.4	-	1	177	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	UNC119_ENST00000484980.1_5'Flank|UNC119_ENST00000301032.4_Nonsense_Mutation_p.Q23*	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	23	Required for midbody localization.				cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCCACGCTCTGGCCCGAGGGC	0.751																																						uc002hbk.2		NaN																	0					0						c.(67-69)CAG>TAG		unc119 (C.elegans) homolog isoform a							4.0	6.0	5.0					17																	26879509		1733	3704	5437	SO:0001587	stop_gained	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26879509G>A	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.67C>T	17.37:g.26879509G>A	ENSP00000337040:p.Gln23*					UNC119_uc002hbm.2_Nonsense_Mutation_p.Q23*	p.Q23*	NM_005148	NP_005139	Q13432	U119A_HUMAN			1	138	-	Lung NSC(42;0.00431)		23					A8K8G4|F1T095|O95126	Nonsense_Mutation	SNP	ENST00000335765.4	37	c.67C>T	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686405	0.68157	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	.	.	.	3.71	3.71	0.42584	.	1.138370	0.06805	N	0.789298	.	.	.	.	.	.	0.45662	D	0.998589	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2404	10.028	0.42083	0.0:0.2746:0.7254:0.0	.	.	.	.	X	23	.	ENSP00000301032:Q23X	Q	-	1	0	UNC119	23903636	0.995000	0.38212	0.130000	0.21974	0.558000	0.35554	2.461000	0.45040	2.096000	0.63516	0.454000	0.30748	CAG		0.751	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2				3	8	0	0	0	0.004672	0	3	8		
CPD	1362	broad.mit.edu	37	17	28749923	28749923	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:28749923G>C	ENST00000225719.4	+	5	1615	c.1539G>C	c.(1537-1539)ttG>ttC	p.L513F	CPD_ENST00000543464.2_Missense_Mutation_p.L266F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	513	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.L513F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AAATCTTCTTGAGAAGGTTTG	0.393																																						uc002hfb.1		NaN																	1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(1537-1539)TTG>TTC		carboxypeptidase D precursor							152.0	148.0	149.0					17																	28749923		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28749923G>C	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1539G>C	17.37:g.28749923G>C	ENSP00000225719:p.Leu513Phe					CPD_uc010wbo.1_Missense_Mutation_p.L266F|CPD_uc010wbp.1_RNA	p.L513F	NM_001304	NP_001295	O75976	CBPD_HUMAN			5	1554	+			513			Extracellular (Potential).|Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1539G>C	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817827	0.90790	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.16743	2.32;2.32	5.77	5.77	0.91146	Peptidase M14, carboxypeptidase A (2);	0.065336	0.64402	D	0.000006	T	0.43055	0.1230	M	0.68728	2.09	0.80722	D	1	D;D	0.76494	0.999;0.98	D;P	0.75020	0.985;0.905	T	0.19224	-1.0312	10	0.87932	D	0	.	18.9713	0.92716	0.0:0.0:1.0:0.0	.	266;513	F5GZH6;O75976	.;CBPD_HUMAN	F	513;266	ENSP00000225719:L513F;ENSP00000444443:L266F	ENSP00000225719:L513F	L	+	3	2	CPD	25774049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.348000	0.59379	2.728000	0.93425	0.650000	0.86243	TTG		0.393	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		38	76	0	0	0	0.00874	0	38	76		
PSMD11	5717	broad.mit.edu	37	17	30807593	30807593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:30807593C>T	ENST00000261712.3	+	13	1476	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	PSMD11_ENST00000457654.2_Nonsense_Mutation_p.Q405*	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAAACAATTCAGAACATGAG	0.483																																					Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NaN																	0				ovary(1)	1						c.(1213-1215)CAG>TAG		proteasome 26S non-ATPase subunit 11							79.0	76.0	77.0					17																	30807593		2203	4300	6503	SO:0001587	stop_gained	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30807593C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1213C>T	17.37:g.30807593C>T	ENSP00000261712:p.Gln405*					PSMD11_uc002hhm.2_Nonsense_Mutation_p.Q405*	p.Q405*	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		13	1253	+		Breast(31;0.159)|Ovarian(249;0.182)	405					A8K3I7|E1P663|O00495|Q53FT5	Nonsense_Mutation	SNP	ENST00000261712.3	37	c.1213C>T	CCDS11272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.129306|5.129306	0.94473|0.94473	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000261712|ENST00000457654	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72795	.|0.3505	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69745	.|-0.5062	.|4	0.05436|.	T|.	0.98|.	-8.5462|-8.5462	17.0466|17.0466	0.86505|0.86505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	405|142	.|.	ENSP00000261712:Q405X|.	Q|S	+|+	1|2	0|0	PSMD11|PSMD11	27831706|27831706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.604000|7.604000	0.82830|0.82830	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.483	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2		NM_002815		4	78	0	0	0	0.009096	0	4	78		
NBR1	4077	broad.mit.edu	37	17	41329983	41329983	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:41329983C>G	ENST00000422280.1	+	3	592	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	NBR1_ENST00000589872.1_Missense_Mutation_p.Q45E|NBR1_ENST00000389312.4_Missense_Mutation_p.Q45E|NBR1_ENST00000542611.1_Intron|NBR1_ENST00000590996.1_Missense_Mutation_p.Q45E|NBR1_ENST00000341165.6_Missense_Mutation_p.Q45E	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	45	OPR.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAATACTATTCAAATAAAATA	0.308																																						uc010czd.2		NaN																	0				skin(1)	1						c.(133-135)CAA>GAA		neighbor of BRCA1 gene 1							49.0	46.0	47.0					17																	41329983		1782	4058	5840	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41329983C>G	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.133C>G	17.37:g.41329983C>G	ENSP00000411250:p.Gln45Glu					NBR1_uc010diz.2_Missense_Mutation_p.Q45E|NBR1_uc010whu.1_Missense_Mutation_p.Q45E|NBR1_uc010whv.1_Missense_Mutation_p.Q45E|NBR1_uc010whw.1_Intron	p.Q45E	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	3	273	+		Breast(137;0.00086)	45			OPR.		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.133C>G	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309717	0.81247	.	.	ENSG00000188554	ENST00000422280;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T	0.22945	1.93;1.93;1.93	5.26	5.26	0.73747	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.83275	0.996;0.983	T	0.53837	-0.8382	10	0.72032	D	0.01	-6.8807	18.6389	0.91387	0.0:1.0:0.0:0.0	.	45;45	Q14596-2;Q14596	.;NBR1_HUMAN	E	45	ENSP00000411250:Q45E;ENSP00000343479:Q45E;ENSP00000373963:Q45E	ENSP00000343479:Q45E	Q	+	1	0	NBR1	38583509	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.475000	0.60210	2.732000	0.93576	0.591000	0.81541	CAA		0.308	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		3	28	0	0	0	0.004672	0	3	28		
MPP3	4356	broad.mit.edu	37	17	41907106	41907106	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:41907106G>A	ENST00000398389.4	-	7	522	c.357C>T	c.(355-357)ctC>ctT	p.L119L	MPP3_ENST00000398393.1_Silent_p.L144L	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	119					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCAGAGGCGGGAGAACGGGGT	0.557																																						uc002iei.3		NaN																	0				large_intestine(1)|skin(1)	2						c.(355-357)CTC>CTT		palmitoylated membrane protein 3							66.0	73.0	71.0					17																	41907106		1968	4145	6113	SO:0001819	synonymous_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41907106G>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.357C>T	17.37:g.41907106G>A						MPP3_uc002ieh.2_Silent_p.L144L|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.L119L|MPP3_uc010wik.1_Silent_p.L144L|MPP3_uc010czj.1_3'UTR	p.L119L	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	7	523	-		Breast(137;0.00394)	119					B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	c.357C>T	CCDS42344.1																																																																																				0.557	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1		NM_001932		23	91	0	0	0	0.00333	0	23	91		
C17orf53	78995	broad.mit.edu	37	17	42232692	42232692	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42232692C>A	ENST00000319977.4	+	8	1923	c.1686C>A	c.(1684-1686)ctC>ctA	p.L562L	C17orf53_ENST00000245382.6_Silent_p.L486L|C17orf53_ENST00000585683.1_Silent_p.L561L	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	562										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATCACTACCTCAACGTGACAC	0.527																																						uc002ifi.1		NaN																	0					0						c.(1684-1686)CTC>CTA		hypothetical protein LOC78995							139.0	116.0	124.0					17																	42232692		2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42232692C>A	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1686C>A	17.37:g.42232692C>A						C17orf53_uc010czq.1_Silent_p.L561L|C17orf53_uc002ifj.1_Silent_p.L486L|C17orf53_uc002ifk.1_RNA	p.L562L	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	8	1871	+		Breast(137;0.0364)|Prostate(33;0.0376)	562					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.1686C>A	CCDS11477.1																																																																																				0.527	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1		NM_024032		4	103	1	0	2.56e-06	0.009096	2.72274e-06	4	103		
ASB16	92591	broad.mit.edu	37	17	42255693	42255693	+	Missense_Mutation	SNP	C	C	G	rs540782204		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42255693C>G	ENST00000293414.1	+	5	1381	c.1297C>G	c.(1297-1299)Cgg>Ggg	p.R433G	ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	433	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGCCACCCGGCTGCCACT	0.677																																						uc002ifl.1		NaN																	0				kidney(2)	2						c.(1297-1299)CGG>GGG		ankyrin repeat and SOCS box-containing protein							20.0	22.0	21.0					17																	42255693		2199	4297	6496	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42255693C>G	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1297C>G	17.37:g.42255693C>G	ENSP00000293414:p.Arg433Gly					ASB16_uc002ifm.1_RNA|C17orf65_uc002ifn.2_Intron	p.R433G	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1381	+		Breast(137;0.00765)|Prostate(33;0.0313)	433			SOCS box.		B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.1297C>G	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689451	0.14973	.	.	ENSG00000161664	ENST00000293414	T	0.44881	0.91	5.36	-1.22	0.09494	SOCS protein, C-terminal (3);	1.794990	0.02214	N	0.063444	T	0.25717	0.0626	N	0.11560	0.145	0.09310	N	1	B	0.18461	0.028	B	0.23150	0.044	T	0.23511	-1.0186	10	0.48119	T	0.1	-0.1836	5.8533	0.18707	0.1197:0.5487:0.0:0.3316	.	433	Q96NS5	ASB16_HUMAN	G	433	ENSP00000293414:R433G	ENSP00000293414:R433G	R	+	1	2	ASB16	39611219	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.893000	0.04127	-0.301000	0.08882	-0.258000	0.10820	CGG		0.677	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1				6	13	0	0	0	0.001984	0	6	13		
EFTUD2	9343	broad.mit.edu	37	17	42936546	42936546	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:42936546C>G	ENST00000426333.2	-	19	2161	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E612Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E587Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E622Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	622					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAGACTCCTCCACCTGAAAC	0.502																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NaN																	0				ovary(1)	1						c.(1864-1866)GAG>CAG		elongation factor Tu GTP binding domain							106.0	85.0	92.0					17																	42936546		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42936546C>G	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1864G>C	17.37:g.42936546C>G	ENSP00000392094:p.Glu622Gln					EFTUD2_uc010wje.1_Missense_Mutation_p.E587Q|EFTUD2_uc010wjf.1_Missense_Mutation_p.E612Q	p.E622Q	NM_004247	NP_004238	Q15029	U5S1_HUMAN			19	2125	-		Prostate(33;0.109)	622					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1864G>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742535	0.96873	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.73258	-0.73;-0.73	6.03	6.03	0.97812	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86980	0.2103	10	0.87932	D	0	-3.1395	20.5568	0.99304	0.0:1.0:0.0:0.0	.	612;622	B4DMC0;Q15029	.;U5S1_HUMAN	Q	622;612;587	ENSP00000392094:E622Q;ENSP00000385873:E587Q	ENSP00000262414:E612Q	E	-	1	0	EFTUD2	40292072	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAG		0.502	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1		NM_004247		8	73	0	0	0	0.00308	0	8	73		
TEX14	56155	broad.mit.edu	37	17	56690847	56690847	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:56690847C>G	ENST00000240361.8	-	9	1043	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	TEX14_ENST00000389934.3_Missense_Mutation_p.E314Q|TEX14_ENST00000349033.5_Missense_Mutation_p.E314Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGGTTTTCTCTAGGTCCTGG	0.498																																						uc010dcz.1		NaN																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(958-960)GAG>CAG		testis expressed sequence 14 isoform a							160.0	138.0	145.0					17																	56690847		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56690847C>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.958G>C	17.37:g.56690847C>G	ENSP00000240361:p.Glu320Gln					TEX14_uc002iwr.1_Missense_Mutation_p.E314Q|TEX14_uc002iws.1_Missense_Mutation_p.E314Q|TEX14_uc010dda.1_Missense_Mutation_p.E94Q	p.E320Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			9	1076	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		320			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.958G>C	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458642	0.26248	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.83163	-1.69;-1.69;-1.69	5.68	2.64	0.31445	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.329097	0.27831	N	0.017665	T	0.76169	0.3950	L	0.48362	1.52	0.36344	D	0.859642	B;B;B	0.32693	0.217;0.38;0.214	B;B;B	0.33620	0.11;0.167;0.149	T	0.75439	-0.3317	10	0.72032	D	0.01	-10.7485	8.4332	0.32771	0.0:0.7313:0.1272:0.1414	.	320;314;314	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	320;314;314	ENSP00000240361:E320Q;ENSP00000374584:E314Q;ENSP00000268910:E314Q	ENSP00000240361:E320Q	E	-	1	0	TEX14	54045846	1.000000	0.71417	0.994000	0.49952	0.137000	0.21094	1.259000	0.32956	0.352000	0.24053	-0.254000	0.11334	GAG		0.498	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1				30	57	0	0	0	0.012213	0	30	57		
VMP1	81671	broad.mit.edu	37	17	57917167	57917167	+	Silent	SNP	C	C	T	rs111262775	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:57917167C>T	ENST00000262291.4	+	12	1426	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V	VMP1_ENST00000545362.1_Silent_p.V316V|VMP1_ENST00000536180.1_Silent_p.V275V|VMP1_ENST00000539763.1_Silent_p.V180V|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Silent_p.V238V	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	372					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AAAAGTTGGTCGTTGTCATGG	0.388																																						uc002ixu.3		NaN																	0					0						c.(1114-1116)GTC>GTT		transmembrane protein 49		T		1,4405	2.1+/-5.4	0,1,2202	311.0	294.0	300.0		1116	-10.6	0.0	17	dbSNP_132	300	0,8600		0,0,4300	no	coding-synonymous	VMP1	NM_030938.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		372/407	57917167	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57917167C>T		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1116C>T	17.37:g.57917167C>T						TMEM49_uc010wog.1_Silent_p.V180V|TMEM49_uc010woh.1_Silent_p.V316V|TMEM49_uc010woi.1_Silent_p.V275V|TMEM49_uc010woj.1_Silent_p.V238V|TMEM49_uc002ixv.2_RNA|MIR21_hsa-mir-21|MI0000077_5'Flank	p.V372V	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)		12	1389	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		372			Helical; (Potential).		B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	37	c.1116C>T	CCDS11619.1																																																																																				0.388	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1		NM_030938		32	195	0	0	0	0.013726	0	32	195		
TLK2	11011	broad.mit.edu	37	17	60683562	60683562	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:60683562C>T	ENST00000326270.9	+	21	2265	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	TLK2_ENST00000343388.7_Missense_Mutation_p.S612L|TLK2_ENST00000582809.1_Missense_Mutation_p.S495L|TLK2_ENST00000346027.5_Missense_Mutation_p.S644L|TLK2_ENST00000542523.1_Missense_Mutation_p.S612L	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GATGTGTGGTCGGTGGGTGTG	0.398																																						uc010ddp.2		NaN																	0				stomach(1)|kidney(1)	2						c.(1996-1998)TCG>TTG		tousled-like kinase 2 isoform A							137.0	121.0	127.0					17																	60683562		2203	4299	6502	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60683562C>T	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1997C>T	17.37:g.60683562C>T	ENSP00000316512:p.Ser666Leu					TLK2_uc002izx.3_Missense_Mutation_p.S492L|TLK2_uc002izz.3_Missense_Mutation_p.S644L|TLK2_uc002jaa.3_Missense_Mutation_p.S612L|TLK2_uc010wpd.1_Missense_Mutation_p.S612L	p.S666L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			21	2265	+			666			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1997C>T		.	.	.	.	.	.	.	.	.	.	C	16.99	3.272750	0.59649	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.982;0.985;0.985;0.991	D	0.83927	0.0304	10	0.87932	D	0	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	666;612;644;644	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	L	644;612;666;612	ENSP00000275780:S644L;ENSP00000340800:S612L;ENSP00000316512:S666L;ENSP00000442311:S612L	ENSP00000316512:S666L	S	+	2	0	TLK2	58037294	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.778000	0.85637	2.832000	0.97577	0.650000	0.86243	TCG		0.398	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1		NM_006852		3	36	0	0	0	0.000602	0	3	36		
STRADA	92335	broad.mit.edu	37	17	61787963	61787963	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:61787963C>G	ENST00000336174.6	-	8	581	c.469G>C	c.(469-471)Gat>Cat	p.D157H	STRADA_ENST00000582137.1_Missense_Mutation_p.D128H|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.D99H|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000392950.4_Missense_Mutation_p.D120H|STRADA_ENST00000447001.3_Missense_Mutation_p.D113H|STRADA_ENST00000579340.1_Missense_Mutation_p.D99H|STRADA_ENST00000245865.5_Missense_Mutation_p.D99H	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CAGATGAGATCTTTTGCAGAA	0.498																																						uc002jbm.2		NaN																	0				ovary(1)	1						c.(469-471)GAT>CAT		STE20-related kinase adaptor alpha isoform 1							96.0	86.0	90.0					17																	61787963		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61787963C>G	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.469G>C	17.37:g.61787963C>G	ENSP00000336655:p.Asp157His					STRADA_uc002jbn.2_Missense_Mutation_p.D99H|STRADA_uc002jbo.2_Missense_Mutation_p.D120H|STRADA_uc002jbp.2_Missense_Mutation_p.D120H|STRADA_uc002jbq.2_Missense_Mutation_p.D99H|STRADA_uc010wpq.1_Missense_Mutation_p.D113H|STRADA_uc010wpr.1_Missense_Mutation_p.D128H|STRADA_uc010ddw.2_Missense_Mutation_p.D128H|STRADA_uc002jbr.2_Missense_Mutation_p.D99H	p.D157H	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			8	628	-			157			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.469G>C	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076696	0.36662	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.76578	-1.03;-1.03;-1.03;1.64	5.76	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.087421	0.85682	D	0.000000	D	0.84897	0.5574	M	0.69185	2.1	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.842;1.0;1.0;1.0	D;D;D;P;D;D;D	0.97110	1.0;1.0;1.0;0.648;0.999;0.999;1.0	T	0.82057	-0.0646	10	0.12766	T	0.61	.	14.7145	0.69257	0.0:0.9307:0.0:0.0693	.	128;113;99;99;120;120;157	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	H	157;99;113;120;119	ENSP00000336655:D157H;ENSP00000365000:D99H;ENSP00000398841:D113H;ENSP00000376677:D120H	ENSP00000245865:D119H	D	-	1	0	STRADA	59141695	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.487000	0.81328	1.431000	0.47355	0.555000	0.69702	GAT		0.498	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1				6	35	0	0	0	0.001168	0	6	35		
GH1	2688	broad.mit.edu	37	17	61995219	61995219	+	Silent	SNP	G	G	A	rs548995389		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:61995219G>A	ENST00000323322.5	-	4	399	c.357C>T	c.(355-357)ctC>ctT	p.L119L	GH1_ENST00000458650.2_Silent_p.L104L|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Silent_p.L79L|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	119					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGACACTCCTGAGGAACTGCA	0.607																																						uc002jdj.2		NaN																	0					0						c.(355-357)CTC>CTT		growth hormone 1 isoform 1							60.0	62.0	61.0					17																	61995219		2203	4300	6503	SO:0001819	synonymous_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995219G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.357C>T	17.37:g.61995219G>A						GH1_uc002jdi.2_Silent_p.L104L|GH1_uc002jdk.2_Silent_p.L79L|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron	p.L119L	NM_000515	NP_000506	P01241	SOMA_HUMAN			4	419	-			119					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.357C>T	CCDS11653.1																																																																																				0.607	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1		NM_000515		13	80	0	0	0	0.001855	0	13	80		
CACNG5	27091	broad.mit.edu	37	17	64880683	64880683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:64880683G>A	ENST00000533854.1	+	5	712	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CACNG5_ENST00000307139.3_Missense_Mutation_p.E159K|CACNG5_ENST00000169565.3_Missense_Mutation_p.E159K			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	159					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CATCAACGATGAGATGCTCAA	0.562																																						uc010wqi.1		NaN																	0				pancreas(1)|skin(1)	2						c.(475-477)GAG>AAG		voltage-dependent calcium channel gamma-5							100.0	87.0	92.0					17																	64880683		2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64880683G>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.475G>A	17.37:g.64880683G>A	ENSP00000436836:p.Glu159Lys					CACNG5_uc002jfr.2_Missense_Mutation_p.E159K|CACNG5_uc010wqj.1_Missense_Mutation_p.E159K	p.E159K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		5	712	+			159					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.475G>A	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943160	0.92526	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88975	-2.45;-2.45;-2.45	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.80422	2.495	0.58432	D	0.999998	D	0.69078	0.997	D	0.79108	0.992	D	0.94252	0.7494	10	0.52906	T	0.07	-30.2027	16.1664	0.81759	0.0:0.0:1.0:0.0	.	159	Q9UF02	CCG5_HUMAN	K	159	ENSP00000436836:E159K;ENSP00000303092:E159K;ENSP00000169565:E159K	ENSP00000169565:E159K	E	+	1	0	CACNG5	62311145	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.053000	0.93860	2.499000	0.84300	0.609000	0.83330	GAG		0.562	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1		NM_014404, NM_145811		10	71	0	0	0	0.008291	0	10	71		
ABCA8	10351	broad.mit.edu	37	17	66872823	66872823	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:66872823C>T	ENST00000269080.2	-	32	4238	c.4101G>A	c.(4099-4101)ctG>ctA	p.L1367L	ABCA8_ENST00000430352.2_Silent_p.L1407L|ABCA8_ENST00000586539.1_Silent_p.L1407L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1367	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTGGTCCTGCAGCTTGAGCG	0.498																																						uc002jhp.2		NaN																	0				ovary(2)|skin(1)	3						c.(4099-4101)CTG>CTA		ATP-binding cassette, sub-family A member 8							111.0	97.0	102.0					17																	66872823		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66872823C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4101G>A	17.37:g.66872823C>T						ABCA8_uc002jhq.2_Silent_p.L1407L|ABCA8_uc010wqq.1_Silent_p.L1402L	p.L1367L	NM_007168	NP_009099	O94911	ABCA8_HUMAN			32	4280	-	Breast(10;4.56e-13)		1367			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.4101G>A	CCDS11680.1																																																																																				0.498	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		22	75	0	0	0	0.00333	0	22	75		
GRIN2C	2905	broad.mit.edu	37	17	72845996	72845996	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:72845996G>T	ENST00000293190.5	-	7	1714	c.1568C>A	c.(1567-1569)tCt>tAt	p.S523Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S523Y|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	523					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAAGGGTACAGAGAAGTCTAC	0.622																																						uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(1567-1569)TCT>TAT		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						107.0	98.0	101.0					17																	72845996		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72845996G>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1568C>A	17.37:g.72845996G>T	ENSP00000293190:p.Ser523Tyr					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S523Y	p.S523Y	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			7	1724	-	all_lung(278;0.172)|Lung NSC(278;0.207)		523			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1568C>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682936	0.47991	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.65178	-0.14	4.19	4.19	0.49359	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89155	0.3526	10	0.87932	D	0	.	17.0587	0.86541	0.0:0.0:1.0:0.0	.	557;523	Q8IW23;Q14957	.;NMDE3_HUMAN	Y	523;557	ENSP00000293190:S523Y	ENSP00000293190:S523Y	S	-	2	0	GRIN2C	70357591	1.000000	0.71417	0.973000	0.42090	0.877000	0.50540	9.468000	0.97676	2.313000	0.78055	0.491000	0.48974	TCT		0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				25	76	1	0	1.85244e-09	0.00333	1.99458e-09	25	76		
GRIN2C	2905	broad.mit.edu	37	17	72846001	72846001	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:72846001G>A	ENST00000293190.5	-	7	1709	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	GRIN2C_ENST00000347612.4_Silent_p.D521D|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	521					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTACAGAGAAGTCTACGATCT	0.617																																						uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(1561-1563)GAC>GAT		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						109.0	99.0	103.0					17																	72846001		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846001G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1563C>T	17.37:g.72846001G>A						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.D521D	p.D521D	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			7	1719	-	all_lung(278;0.172)|Lung NSC(278;0.207)		521			Extracellular (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.1563C>T	CCDS32724.1																																																																																				0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				28	72	0	0	0	0.00632	0	28	72		
NUP85	79902	broad.mit.edu	37	17	73204673	73204673	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:73204673C>G	ENST00000245544.4	+	2	156	c.85C>G	c.(85-87)Cca>Gca	p.P29A	NUP85_ENST00000541827.1_Intron|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.P29A|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	29					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGACTGGGGTCCAGGGGAGAT	0.358																																						uc002jng.1		NaN																	0				ovary(1)	1						c.(85-87)CCA>GCA		nucleoporin 85							171.0	187.0	182.0					17																	73204673		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73204673C>G	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.85C>G	17.37:g.73204673C>G	ENSP00000245544:p.Pro29Ala					NUP85_uc010dgd.1_Missense_Mutation_p.P29A|NUP85_uc010wrv.1_Intron	p.P29A	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		2	345	+	all_lung(278;0.14)|Lung NSC(278;0.168)		29					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.85C>G	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948773	0.34377	.	.	ENSG00000125450	ENST00000245544	.	.	.	4.78	4.78	0.61160	.	0.051862	0.85682	D	0.000000	T	0.48519	0.1504	M	0.63843	1.955	0.80722	D	1	P	0.43750	0.816	B	0.36766	0.232	T	0.55231	-0.8173	9	0.02654	T	1	-13.1383	15.9648	0.79961	0.0:1.0:0.0:0.0	.	29	Q9BW27	NUP85_HUMAN	A	29	.	ENSP00000245544:P29A	P	+	1	0	NUP85	70716268	0.993000	0.37304	0.969000	0.41365	0.195000	0.23768	5.696000	0.68287	2.356000	0.79943	0.563000	0.77884	CCA		0.358	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1		NM_024844		6	241	0	0	0	0.001984	0	6	241		
PCYT2	5833	broad.mit.edu	37	17	79864646	79864646	+	Silent	SNP	G	G	A	rs528044817		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:79864646G>A	ENST00000538936.2	-	7	774	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PCYT2_ENST00000538721.2_Silent_p.F240F|PCYT2_ENST00000331285.3_Silent_p.F144F|PCYT2_ENST00000571105.1_Silent_p.F222F|PCYT2_ENST00000570388.1_Silent_p.F144F|PCYT2_ENST00000570391.1_Silent_p.F190F	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	222					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	GGAACAGGTCGAAGGCACCAG	0.607																																						uc002kcf.1		NaN																	0					0						c.(664-666)TTC>TTT		phosphate cytidylyltransferase 2, ethanolamine							62.0	59.0	60.0					17																	79864646		2202	4300	6502	SO:0001819	synonymous_variant	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79864646G>A	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.666C>T	17.37:g.79864646G>A						PCYT2_uc010wva.1_Silent_p.F190F|PCYT2_uc010wvb.1_Silent_p.F190F|PCYT2_uc002kce.1_Silent_p.F144F|PCYT2_uc002kcg.1_Silent_p.F251F|PCYT2_uc002kch.1_Silent_p.F240F|PCYT2_uc002kci.1_Silent_p.F181F|PCYT2_uc010dii.1_Silent_p.F222F|PCYT2_uc010wvc.1_Silent_p.F144F	p.F222F	NM_002861	NP_002852	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	729	-	all_neural(118;0.0878)|Ovarian(332;0.12)		222			Catalytic 2 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Silent	SNP	ENST00000538936.2	37	c.666C>T	CCDS11791.1																																																																																				0.607	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1		NM_002861		16	32	0	0	0	0.006122	0	16	32		
CD7	924	broad.mit.edu	37	17	80274695	80274695	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:80274695C>T	ENST00000312648.3	-	2	351	c.245G>A	c.(244-246)aGa>aAa	p.R82K	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Missense_Mutation_p.R82K|CD7_ENST00000583376.1_5'UTR	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	82	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CCGGAACCGTCTGTCCGTAGT	0.637																																					Pancreas(45;804 1068 19702 28207 28798)	uc002kel.1		NaN																	0					0						c.(244-246)AGA>AAA		CD7 antigen precursor							98.0	91.0	94.0					17																	80274695		2203	4300	6503	SO:0001583	missense	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274695C>T	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.245G>A	17.37:g.80274695C>T	ENSP00000312027:p.Arg82Lys					CD7_uc010din.2_Missense_Mutation_p.R82K|CD7_uc002kem.2_Silent_p.Q63Q|CD7_uc010wvk.1_Missense_Mutation_p.R82K	p.R82K	NM_006137	NP_006128	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		2	354	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		82			Ig-like.|Extracellular (Probable).			Missense_Mutation	SNP	ENST00000312648.3	37	c.245G>A	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	C	6.007	0.369732	0.11352	.	.	ENSG00000173762	ENST00000312648	T	0.64085	-0.08	3.17	-6.35	0.01975	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.045330	0.00664	N	0.000613	T	0.41858	0.1177	N	0.08118	0	0.18873	N	0.999986	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.43572	-0.9383	10	0.31617	T	0.26	0.1824	12.2328	0.54497	0.0:0.2565:0.6219:0.1216	.	82;82;82	B4DNW9;Q29VG3;P09564	.;.;CD7_HUMAN	K	82	ENSP00000312027:R82K	ENSP00000312027:R82K	R	-	2	0	CD7	77867984	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.900000	0.04097	-2.826000	0.00341	-2.122000	0.00348	AGA		0.637	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1		NM_006137		37	84	0	0	0	0.003271	0	37	84		
TWSG1	57045	broad.mit.edu	37	18	9396405	9396405	+	Silent	SNP	C	C	T	rs143807731		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:9396405C>T	ENST00000262120.5	+	4	542	c.351C>T	c.(349-351)aaC>aaT	p.N117N	TWSG1_ENST00000581641.1_Silent_p.N117N	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	117					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TGAATTGGAACATCGTTTCTT	0.463																																						uc002knz.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(349-351)AAC>AAT		twisted gastrulation precursor		C		2,4404	4.2+/-10.8	0,2,2201	131.0	124.0	127.0		351	3.5	1.0	18	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous	TWSG1	NM_020648.5		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		117/224	9396405	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57045							g.chr18:9396405C>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.351C>T	18.37:g.9396405C>T						TWSG1_uc002koa.2_Silent_p.N42N	p.N117N	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN			4	542	+			117					B2RE08|D3DUH9|Q8NBI7|Q96K46	Silent	SNP	ENST00000262120.5	37	c.351C>T	CCDS11844.1																																																																																				0.463	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2				14	92	0	0	0	0.004007	0	14	92		
POTEC	388468	broad.mit.edu	37	18	14513681	14513681	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:14513681C>T	ENST00000358970.5	-	10	1512	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	505										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATTTTCTTTTCAGCCACTTCT	0.299																																						uc010dln.2		NaN																	0				skin(3)	3						c.(1513-1515)GAA>AAA		ANKRD26-like family B, member 2							159.0	111.0	126.0					18																	14513681		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513681C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1513G>A	18.37:g.14513681C>T	ENSP00000351856:p.Glu505Lys					POTEC_uc010xaj.1_RNA	p.E505K	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1967	-			505			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1513G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	2.944	-0.218243	0.06101	.	.	ENSG00000183206	ENST00000358970	T	0.27890	1.64	1.53	-0.518	0.11943	.	.	.	.	.	T	0.35480	0.0933	L	0.44542	1.39	0.09310	N	1	P	0.52842	0.956	P	0.62184	0.899	T	0.17198	-1.0377	9	0.41790	T	0.15	.	2.703	0.05154	0.2261:0.3246:0.4493:0.0	.	505	B2RU33	POTEC_HUMAN	K	505	ENSP00000351856:E505K	ENSP00000351856:E505K	E	-	1	0	POTEC	14503681	0.001000	0.12720	0.001000	0.08648	0.045000	0.14185	-0.329000	0.07935	-0.190000	0.10465	0.205000	0.17691	GAA		0.299	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1		XM_496269		15	60	0	0	0	0.003163	0	15	60		
ROCK1	6093	broad.mit.edu	37	18	18629788	18629788	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:18629788C>T	ENST00000399799.2	-	3	1169	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCACTACTTCATAATCTTCA	0.274																																						uc002kte.2		NaN																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(229-231)GAA>AAA		Rho-associated, coiled-coil containing protein							128.0	115.0	119.0					18																	18629788		2203	4299	6502	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18629788C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.229G>A	18.37:g.18629788C>T	ENSP00000382697:p.Glu77Lys						p.E77K	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			3	1170	-	Melanoma(1;0.165)		77			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.229G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518524	0.85495	.	.	ENSG00000067900	ENST00000399799	T	0.65916	-0.18	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	L	0.33792	1.035	0.80722	D	1	B	0.28378	0.209	B	0.26310	0.068	T	0.54323	-0.8311	10	0.52906	T	0.07	.	19.5887	0.95499	0.0:1.0:0.0:0.0	.	77	Q13464	ROCK1_HUMAN	K	77	ENSP00000382697:E77K	ENSP00000382697:E77K	E	-	1	0	ROCK1	16883786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.701000	0.92244	0.655000	0.94253	GAA		0.274	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2		NM_005406		11	15	0	0	0	0.001855	0	11	15		
ASXL3	80816	broad.mit.edu	37	18	31323516	31323516	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:31323516C>T	ENST00000269197.5	+	12	3704	c.3704C>T	c.(3703-3705)tCt>tTt	p.S1235F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1235	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATAAAAATTCTGTCCCTGTA	0.373																																						uc010dmg.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3703-3705)TCT>TTT		additional sex combs like 3							79.0	72.0	74.0					18																	31323516		1834	4083	5917	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323516C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3704C>T	18.37:g.31323516C>T	ENSP00000269197:p.Ser1235Phe					ASXL3_uc002kxq.2_Missense_Mutation_p.S942F	p.S1235F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3759	+			1235			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3704C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923118	0.33908	.	.	ENSG00000141431	ENST00000269197	T	0.50001	0.76	5.68	4.79	0.61399	.	1.441110	0.03960	N	0.289987	T	0.38746	0.1052	N	0.24115	0.695	0.23113	N	0.998274	P	0.37955	0.612	B	0.35353	0.201	T	0.37663	-0.9696	10	0.66056	D	0.02	.	9.316	0.37934	0.1455:0.7828:0.0:0.0717	.	1235	Q9C0F0	ASXL3_HUMAN	F	1235	ENSP00000269197:S1235F	ENSP00000269197:S1235F	S	+	2	0	ASXL3	29577514	0.903000	0.30736	0.954000	0.39281	0.993000	0.82548	2.810000	0.47979	1.360000	0.45960	0.655000	0.94253	TCT		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2				8	128	0	0	0	0.00308	0	8	128		
NARS	4677	broad.mit.edu	37	18	55270142	55270142	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:55270142C>T	ENST00000256854.5	-	12	1740	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	NARS_ENST00000423481.2_Missense_Mutation_p.D180N	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	429					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TTAATGGTGTCTGTCATCAGT	0.448																																						uc002lgs.2		NaN																	0					0						c.(1285-1287)GAC>AAC		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)						128.0	108.0	115.0					18																	55270142		2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55270142C>T	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1285G>A	18.37:g.55270142C>T	ENSP00000256854:p.Asp429Asn					NARS_uc002lgt.2_Missense_Mutation_p.D428N|NARS_uc010xea.1_Missense_Mutation_p.D180N	p.D429N	NM_004539	NP_004530	O43776	SYNC_HUMAN			12	1513	-		Colorectal(73;0.227)	429					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.1285G>A	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690961	0.96793	.	.	ENSG00000134440	ENST00000256854;ENST00000423481	D;D	0.84589	-1.87;-1.87	5.99	5.99	0.97316	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.90982	0.4828	10	0.44086	T	0.13	.	20.0728	0.97731	0.0:1.0:0.0:0.0	.	180;429	B4DN60;O43776	.;SYNC_HUMAN	N	429;180	ENSP00000256854:D429N;ENSP00000407919:D180N	ENSP00000256854:D429N	D	-	1	0	NARS	53421140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.316000	0.79007	2.840000	0.97914	0.655000	0.94253	GAC		0.448	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2		NM_004539		6	53	0	0	0	0.001984	0	6	53		
CDH7	1005	broad.mit.edu	37	18	63477229	63477229	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr18:63477229C>T	ENST00000397968.2	+	3	926	c.500C>T	c.(499-501)cCc>cTc	p.P167L	CDH7_ENST00000536984.2_Missense_Mutation_p.P167L|CDH7_ENST00000323011.3_Missense_Mutation_p.P167L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAAATGTCTCCCGTGGGTAAG	0.398																																						uc002ljz.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(499-501)CCC>CTC		cadherin 7, type 2 preproprotein							77.0	77.0	77.0					18																	63477229		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477229C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.500C>T	18.37:g.63477229C>T	ENSP00000381058:p.Pro167Leu					CDH7_uc002lka.2_Missense_Mutation_p.P167L|CDH7_uc002lkb.2_Missense_Mutation_p.P167L	p.P167L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			3	825	+		Esophageal squamous(42;0.129)	167			Extracellular (Potential).|Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.500C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468098	0.84533	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.54071	0.59;0.59;0.59	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.399351	0.28409	N	0.015456	T	0.69895	0.3162	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.962;0.999	P;D	0.71656	0.786;0.974	T	0.67841	-0.5566	10	0.51188	T	0.08	.	20.1416	0.98058	0.0:1.0:0.0:0.0	.	167;167	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	167	ENSP00000319166:P167L;ENSP00000443030:P167L;ENSP00000381058:P167L	ENSP00000319166:P167L	P	+	2	0	CDH7	61628209	0.998000	0.40836	0.999000	0.59377	0.886000	0.51366	3.503000	0.53340	2.767000	0.95098	0.650000	0.86243	CCC		0.398	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		NM_033646		31	46	0	0	0	0.010818	0	31	46		
CATSPERD	257062	broad.mit.edu	37	19	5771022	5771022	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:5771022C>G	ENST00000381624.3	+	19	1763	c.1702C>G	c.(1702-1704)Cag>Gag	p.Q568E	CATSPERD_ENST00000381614.2_Missense_Mutation_p.Q226E|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	568					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTACTCCTACCAGCAGCTGGG	0.607																																						uc002mda.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1702-1704)CAG>GAG		transmembrane protein 146 precursor							74.0	73.0	73.0					19																	5771022		1927	4128	6055	SO:0001583	missense	257062					integral to membrane		g.chr19:5771022C>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1702C>G	19.37:g.5771022C>G	ENSP00000371037:p.Gln568Glu					TMEM146_uc010duj.1_Missense_Mutation_p.Q226E	p.Q568E	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			19	1763	+			568			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1702C>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869396	0.00547	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.19669	2.13;2.13	3.26	-4.83	0.03161	.	1.107710	0.07122	N	0.844120	T	0.05364	0.0142	N	0.01188	-0.97	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.40021	-0.9585	10	0.12766	T	0.61	-9.347	5.9071	0.19006	0.1917:0.5067:0.3016:0.0	.	494;568	B7WNK5;Q86XM0	.;TM146_HUMAN	E	494;568;226;239;237	ENSP00000371037:Q568E;ENSP00000371027:Q226E	ENSP00000310546:Q239E	Q	+	1	0	TMEM146	5722022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.195000	0.09546	-0.882000	0.03987	-2.203000	0.00303	CAG		0.607	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2		NM_152784		13	50	0	0	0	0.013537	0	13	50		
INSR	3643	broad.mit.edu	37	19	7125313	7125313	+	Missense_Mutation	SNP	C	C	G	rs374854021		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:7125313C>G	ENST00000302850.5	-	17	3381	c.3239G>C	c.(3238-3240)gGc>gCc	p.G1080A	INSR_ENST00000341500.5_Missense_Mutation_p.G1068A	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1080	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCAGGTGAAGCCCTTCATGAC	0.607																																						uc002mgd.1		NaN																	0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(3238-3240)GGC>GCC		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						119.0	88.0	98.0					19																	7125313		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7125313C>G	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3239G>C	19.37:g.7125313C>G	ENSP00000303830:p.Gly1080Ala					INSR_uc002mge.1_Missense_Mutation_p.G1068A	p.G1080A	NM_000208	NP_000199	P06213	INSR_HUMAN			17	3348	-			1080			Protein kinase.|Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3239G>C	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	3.377	-0.127125	0.06795	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.81908	-1.55;-1.55	5.06	5.06	0.68205	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000256	T	0.66086	0.2754	N	0.16368	0.405	0.46849	D	0.999226	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59778	-0.7390	10	0.02654	T	1	.	11.6074	0.51039	0.0:0.8206:0.1794:0.0	.	1068;1080	P06213-2;P06213	.;INSR_HUMAN	A	1080;1068	ENSP00000303830:G1080A;ENSP00000342838:G1068A	ENSP00000303830:G1080A	G	-	2	0	INSR	7076313	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.936000	0.63506	2.638000	0.89438	0.655000	0.94253	GGC		0.607	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1				5	43	0	0	0	0.000602	0	5	43		
ZNF266	10781	broad.mit.edu	37	19	9526415	9526415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:9526415G>T	ENST00000592904.1	-	4	2195	c.119C>A	c.(118-120)tCa>tAa	p.S40*	ZNF266_ENST00000588221.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000361451.2_Nonsense_Mutation_p.S40*|ZNF266_ENST00000592292.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000590306.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000361151.1_Nonsense_Mutation_p.S40*|ZNF266_ENST00000588933.1_Nonsense_Mutation_p.S40*			Q14584	ZN266_HUMAN	zinc finger protein 266	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCCATTCTGAAGCTGAAGA	0.408																																						uc002mll.2		NaN																	0				ovary(1)	1						c.(118-120)TCA>TAA		zinc finger protein 266							101.0	95.0	97.0					19																	9526415		2203	4300	6503	SO:0001587	stop_gained	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9526415G>T	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.119C>A	19.37:g.9526415G>T	ENSP00000466714:p.Ser40*					ZNF266_uc002mlm.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mln.2_Nonsense_Mutation_p.S40*|ZNF266_uc002mlo.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwp.2_Nonsense_Mutation_p.S40*|ZNF266_uc010dwq.2_Nonsense_Mutation_p.S40*	p.S40*	NM_198058	NP_932175	Q14584	ZN266_HUMAN			3	385	-			40			KRAB.		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Nonsense_Mutation	SNP	ENST00000592904.1	37	c.119C>A	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	44	11.173187	0.99526	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	.	.	.	3.12	-2.86	0.05717	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	7.3014	0.26422	0.4922:0.0:0.5078:0.0	.	.	.	.	X	40	.	ENSP00000355047:S40X	S	-	2	0	ZNF266	9387415	0.000000	0.05858	0.007000	0.13788	0.256000	0.26092	-1.343000	0.02642	-0.689000	0.05149	-0.263000	0.10527	TCA		0.408	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1				13	25	1	0	4.3838e-07	0.001855	4.69693e-07	13	25		
KRI1	65095	broad.mit.edu	37	19	10670041	10670041	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:10670041G>A	ENST00000312962.6	-	12	1225	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Silent_p.L398L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	396	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCACCTGCATGAGCTGGTCGT	0.602																																						uc002moy.1		NaN																	0				ovary(1)	1						c.(1204-1206)CTC>CTT		KRI1 homolog							68.0	66.0	67.0					19																	10670041		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10670041G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1206C>T	19.37:g.10670041G>A						KRI1_uc002mow.1_Silent_p.L21L|KRI1_uc002mox.1_Silent_p.L398L	p.L402L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		12	1215	-			402			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.1206C>T	CCDS12242.1																																																																																				0.602	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		NM_023008		10	34	0	0	0	0.006214	0	10	34		
HSH2D	84941	broad.mit.edu	37	19	16268238	16268238	+	Missense_Mutation	SNP	C	C	T	rs527626203	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:16268238C>T	ENST00000253680.6	+	9	1223	c.692C>T	c.(691-693)tCg>tTg	p.S231L	HSH2D_ENST00000588246.1_Silent_p.V231V|HSH2D_ENST00000593154.2_Silent_p.V231V|HSH2D_ENST00000397372.4_Missense_Mutation_p.S141L			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	231					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GTGAACTTGTCGTCACTCTTG	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		17168	0.0		0.0	False		,,,				2504	0.002					uc002ndp.3		NaN																	0					0						c.(691-693)TCG>TTG		hematopoietic SH2 domain containing							69.0	75.0	73.0					19																	16268238		1984	4161	6145	SO:0001583	missense	84941					cytoplasm|nucleus		g.chr19:16268238C>T	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.692C>T	19.37:g.16268238C>T	ENSP00000253680:p.Ser231Leu					HSH2D_uc002ndr.2_Silent_p.V174V|HSH2D_uc010ead.2_RNA	p.S231L	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN			9	1223	+			231					B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37	c.692C>T		.	.	.	.	.	.	.	.	.	.	C	9.876	1.200167	0.22121	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.45276	0.9	3.38	2.3	0.28687	.	7.855870	0.00357	N	0.000026	T	0.29817	0.0745	.	.	.	0.09310	N	1	P	0.35551	0.509	B	0.23018	0.043	T	0.30119	-0.9989	9	0.46703	T	0.11	.	8.358	0.32342	0.0:0.7422:0.2578:0.0	.	231	Q96JZ2	HSH2D_HUMAN	L	141;231	ENSP00000253680:S231L	ENSP00000253680:S231L	S	+	2	0	HSH2D	16129238	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.128000	0.31369	0.943000	0.37553	0.561000	0.74099	TCG		0.602	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032855		8	74	0	0	0	0.00308	0	8	74		
F2RL3	9002	broad.mit.edu	37	19	17000948	17000948	+	Missense_Mutation	SNP	G	G	A	rs147915788		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:17000948G>A	ENST00000248076.3	+	2	1004	c.674G>A	c.(673-675)cGc>cAc	p.R225H		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	225					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGCTCCGATCGCGTGCTCTGC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		13244	0.0		0.0	False		,,,				2504	0.001					uc002nfa.2		NaN																	0					0						c.(673-675)CGC>CAC		coagulation factor II (thrombin) receptor-like 3		G	HIS/ARG	0,4382		0,0,2191	19.0	16.0	17.0		674	-6.8	0.0	19	dbSNP_134	17	2,8574		0,2,4286	no	missense	F2RL3	NM_003950.2	29	0,2,6477	AA,AG,GG		0.0233,0.0,0.0154	benign	225/386	17000948	2,12956	2191	4288	6479	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000948G>A	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.674G>A	19.37:g.17000948G>A	ENSP00000248076:p.Arg225His						p.R225H	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	849	+			225			Extracellular (Potential).		O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.674G>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468908	0.26335	0.0	2.33E-4	ENSG00000127533	ENST00000248076	T	0.33654	1.4	4.15	-6.78	0.01721	GPCR, rhodopsin-like superfamily (1);	0.461429	0.20315	N	0.094742	T	0.17323	0.0416	L	0.31065	0.9	0.25111	N	0.990716	B	0.10296	0.003	B	0.06405	0.002	T	0.06499	-1.0823	10	0.36615	T	0.2	.	5.7666	0.18229	0.5828:0.0:0.1825:0.2347	.	225	Q96RI0	PAR4_HUMAN	H	225	ENSP00000248076:R225H	ENSP00000248076:R225H	R	+	2	0	F2RL3	16861948	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.438000	0.06905	-0.889000	0.03950	-0.339000	0.08088	CGC		0.697	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1				4	14	0	0	0	0.000602	0	4	14		
MRPL34	64981	broad.mit.edu	37	19	17417150	17417150	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:17417150C>T	ENST00000252602.1	+	2	466	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	MRPL34_ENST00000602206.1_3'UTR|ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000594999.1_Missense_Mutation_p.R81C|MRPL34_ENST00000600434.1_Missense_Mutation_p.R81C|MRPL34_ENST00000595444.1_Missense_Mutation_p.R173C	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	81					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)	2						GGTCATCCTTCGCCGAATGCT	0.652																																						uc002ngc.1		NaN																	0					0						c.(241-243)CGC>TGC		mitochondrial ribosomal protein L34 precursor							9.0	12.0	11.0					19																	17417150		2167	4247	6414	SO:0001583	missense	64981				translation		structural constituent of ribosome	g.chr19:17417150C>T	AB049652	CCDS12356.1	19p13.1	2012-09-13						"""Mitochondrial ribosomal proteins / large subunits"""	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.241C>T	19.37:g.17417150C>T	ENSP00000252602:p.Arg81Cys					ABHD8_uc002ngb.3_5'Flank	p.R81C	NM_023937	NP_076426	Q9BQ48	RM34_HUMAN			2	466	+			81						Missense_Mutation	SNP	ENST00000252602.1	37	c.241C>T	CCDS12356.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780089	0.70222	.	.	ENSG00000130312	ENST00000252602	.	.	.	5.04	5.04	0.67666	.	0.067403	0.64402	D	0.000011	T	0.80105	0.4562	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.83243	-0.0057	8	0.87932	D	0	-8.9943	15.8647	0.79055	0.0:1.0:0.0:0.0	.	81	Q9BQ48	RM34_HUMAN	C	81	.	ENSP00000252602:R81C	R	+	1	0	MRPL34	17278150	1.000000	0.71417	0.081000	0.20488	0.006000	0.05464	6.932000	0.75869	2.338000	0.79540	0.313000	0.20887	CGC		0.652	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463516.1		NM_023937		3	14	0	0	0	0.004672	0	3	14		
ZNF429	353088	broad.mit.edu	37	19	21719683	21719683	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:21719683G>A	ENST00000358491.4	+	4	1036	c.828G>A	c.(826-828)aaG>aaA	p.K276K	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	276				Missing (in Ref. 2; AAP30884 and 3; AAK01422). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTACCCATAAGAGAATTCATT	0.378																																						uc002nqd.1		NaN																	0				ovary(2)	2						c.(826-828)AAG>AAA		zinc finger protein 429							38.0	41.0	40.0					19																	21719683		2119	4272	6391	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719683G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.828G>A	19.37:g.21719683G>A						ZNF429_uc010ecu.1_Intron	p.K276K	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	965	+			276	Missing (in Ref. 2; AAP30884 and 3; AAK01422).		C2H2-type 5.		A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.828G>A	CCDS42537.1																																																																																				0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1		NM_001001415		4	35	0	0	0	0.009096	0	4	35		
ZNF91	7644	broad.mit.edu	37	19	23545301	23545301	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23545301C>G	ENST00000300619.7	-	4	685	c.480G>C	c.(478-480)ttG>ttC	p.L160F	ZNF91_ENST00000397082.2_Missense_Mutation_p.L128F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	160					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGAAGACTTTCAAATATTTCC	0.328																																						uc002nre.2		NaN																	0					0						c.(478-480)TTG>TTC		zinc finger protein 91							59.0	62.0	61.0					19																	23545301		2104	4263	6367	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545301C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.480G>C	19.37:g.23545301C>G	ENSP00000300619:p.Leu160Phe					ZNF91_uc010xrj.1_Missense_Mutation_p.L128F	p.L160F	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	593	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	160			C2H2-type 1; degenerate.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.480G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	3.214	-0.160942	0.06502	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.06218	3.41;3.33	1.57	1.57	0.23409	.	.	.	.	.	T	0.07954	0.0199	N	0.17345	0.48	0.09310	N	1	P;D	0.69078	0.955;0.997	P;P	0.60345	0.622;0.873	T	0.31888	-0.9927	9	0.49607	T	0.09	.	3.9937	0.09548	0.0:0.7591:0.0:0.2409	.	128;160	Q05481-2;Q05481	.;ZNF91_HUMAN	F	160;128	ENSP00000300619:L160F;ENSP00000380272:L128F	ENSP00000300619:L160F	L	-	3	2	ZNF91	23337141	0.062000	0.20869	0.003000	0.11579	0.144000	0.21451	-0.333000	0.07894	0.825000	0.34637	0.174000	0.16983	TTG		0.328	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		15	51	0	0	0	0.003163	0	15	51		
ZNF91	7644	broad.mit.edu	37	19	23545372	23545372	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23545372C>G	ENST00000300619.7	-	4	614	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZNF91_ENST00000397082.2_Missense_Mutation_p.E105Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	137					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTATAACCTTCTTTGTGCACC	0.299																																						uc002nre.2		NaN																	0					0						c.(409-411)GAA>CAA		zinc finger protein 91							81.0	85.0	84.0					19																	23545372		2159	4282	6441	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545372C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.409G>C	19.37:g.23545372C>G	ENSP00000300619:p.Glu137Gln					ZNF91_uc010xrj.1_Missense_Mutation_p.E105Q	p.E137Q	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	522	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	137					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.409G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	3.535	-0.094995	0.07010	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05925	3.4;3.37	0.987	0.987	0.19790	.	.	.	.	.	T	0.10508	0.0257	L	0.55213	1.73	0.09310	N	1	D;D	0.55605	0.964;0.972	P;P	0.55391	0.775;0.76	T	0.25467	-1.0131	9	0.15066	T	0.55	.	5.1764	0.15137	0.0:1.0:0.0:0.0	.	105;137	Q05481-2;Q05481	.;ZNF91_HUMAN	Q	137;105	ENSP00000300619:E137Q;ENSP00000380272:E105Q	ENSP00000300619:E137Q	E	-	1	0	ZNF91	23337212	0.000000	0.05858	0.007000	0.13788	0.117000	0.20001	-1.637000	0.02015	0.436000	0.26393	0.174000	0.16983	GAA		0.299	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		23	60	0	0	0	0.005443	0	23	60		
ZNF681	148213	broad.mit.edu	37	19	23938261	23938261	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:23938261C>G	ENST00000402377.3	-	2	237	c.96G>C	c.(94-96)gtG>gtC	p.V32V	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCTAACATCACATTCCTAT	0.358																																						uc002nrk.3		NaN																	0					0						c.(94-96)GTG>GTC		zinc finger protein 681							102.0	112.0	109.0					19																	23938261		2203	4300	6503	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23938261C>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.96G>C	19.37:g.23938261C>G						ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank	p.V32V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			2	238	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	32			KRAB.		B3KVF7	Silent	SNP	ENST00000402377.3	37	c.96G>C	CCDS12414.2																																																																																				0.358	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2		NM_138286		17	95	0	0	0	0.007413	0	17	95		
TSHZ3	57616	broad.mit.edu	37	19	31768941	31768941	+	Silent	SNP	C	C	T	rs540753819	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:31768941C>T	ENST00000240587.4	-	2	2085	c.1758G>A	c.(1756-1758)acG>acA	p.T586T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	586					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGTTTTTCGTCGGGGAGA	0.552													C|||	5	0.000998403	0.0	0.0	5008	,	,		16343	0.0		0.0	False		,,,				2504	0.0051					uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1756-1758)ACG>ACA		zinc finger protein 537							97.0	103.0	101.0					19																	31768941		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768941C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1758G>A	19.37:g.31768941C>T							p.T586T	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1823	-	Esophageal squamous(110;0.226)		586					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1758G>A	CCDS12421.2																																																																																				0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		21	114	0	0	0	0.012319	0	21	114		
ZNF146	7705	broad.mit.edu	37	19	36727471	36727471	+	Silent	SNP	T	T	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:36727471T>G	ENST00000443387.2	+	4	1121	c.129T>G	c.(127-129)ccT>ccG	p.P43P	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Silent_p.P43P	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	43					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GAGAGAAACCTTTTGAATGTA	0.418																																						uc002odq.3		NaN																	0					0						c.(127-129)CCT>CCG		zinc finger protein 146							88.0	90.0	89.0					19																	36727471		2203	4300	6503	SO:0001819	synonymous_variant	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727471T>G	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.129T>G	19.37:g.36727471T>G						ZNF146_uc010eet.2_Silent_p.P43P|ZNF146_uc010eeu.2_Silent_p.P43P	p.P43P	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	1652	+	Esophageal squamous(110;0.162)		43					Q2TB94	Silent	SNP	ENST00000443387.2	37	c.129T>G	CCDS12492.1																																																																																				0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1		NM_007145		130	70	0	0	0	0.01441	0	130	70		
ZNF420	147923	broad.mit.edu	37	19	37619283	37619283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:37619283C>T	ENST00000337995.3	+	5	1605	c.1390C>T	c.(1390-1392)Caa>Taa	p.Q464*	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Q464*	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAACTTACTCAACATGAGCG	0.423																																						uc002ofl.2		NaN																	0					0						c.(1390-1392)CAA>TAA		zinc finger protein 420							68.0	65.0	66.0					19																	37619283		2203	4300	6503	SO:0001587	stop_gained	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619283C>T	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1390C>T	19.37:g.37619283C>T	ENSP00000338770:p.Gln464*						p.Q464*	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1605	+			464			C2H2-type 12.		B2RDY6|Q96ML5	Nonsense_Mutation	SNP	ENST00000337995.3	37	c.1390C>T	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993632	0.93167	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.22199	N	0.99929	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	6.6024	0.22707	0.2022:0.6013:0.1965:0.0	.	.	.	.	X	464	.	ENSP00000306102:Q464X	Q	+	1	0	ZNF420	42311123	0.000000	0.05858	0.575000	0.28536	0.993000	0.82548	-1.713000	0.01883	1.933000	0.56026	0.591000	0.81541	CAA		0.423	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3		NM_144689		4	80	0	0	0	0.009096	0	4	80		
SIPA1L3	23094	broad.mit.edu	37	19	38610501	38610501	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:38610501G>A	ENST00000222345.6	+	9	3356	c.2847G>A	c.(2845-2847)agG>agA	p.R949R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	949					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGACATAAGGGAGATAGTGC	0.532																																						uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2845-2847)AGG>AGA		signal-induced proliferation-associated 1 like							26.0	28.0	27.0					19																	38610501		2202	4298	6500	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610501G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2847G>A	19.37:g.38610501G>A							p.R949R	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3356	+			949					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.2847G>A	CCDS33007.1																																																																																				0.532	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		7	115	0	0	0	0.00308	0	7	115		
EID2	163126	broad.mit.edu	37	19	40030401	40030401	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:40030401C>T	ENST00000390658.2	-	1	469	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2											large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGGGCGACCTCCGCCATCCGG	0.756																																						uc002oma.2		NaN																	0					0						c.(319-321)GAG>AAG		CREBBP/EP300 inhibitor 2							14.0	18.0	17.0					19																	40030401		1863	4073	5936	SO:0001583	missense	163126				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding	g.chr19:40030401C>T	BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.319G>A	19.37:g.40030401C>T	ENSP00000375073:p.Glu107Lys						p.E107K	NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		1	438	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		107			Ala-rich.			Missense_Mutation	SNP	ENST00000390658.2	37	c.319G>A	CCDS12540.2	.	.	.	.	.	.	.	.	.	.	.	21.5	4.160432	0.78226	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.37584	1.19	2.97	2.97	0.34412	.	0.170888	0.27936	N	0.017253	T	0.39886	0.1095	L	0.53249	1.67	0.09310	N	0.999998	P	0.48694	0.914	P	0.49451	0.611	T	0.22591	-1.0212	10	0.66056	D	0.02	.	9.6872	0.40105	0.0:1.0:0.0:0.0	.	107	Q8N6I1	EID2_HUMAN	K	107;58	ENSP00000375073:E107K	ENSP00000375073:E107K	E	-	1	0	EID2	44722241	0.940000	0.31905	0.196000	0.23383	0.677000	0.39632	2.222000	0.42926	1.962000	0.57031	0.479000	0.44913	GAG		0.756	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1		NM_153232		6	90	0	0	0	0.001168	0	6	90		
ZNF574	64763	broad.mit.edu	37	19	42584035	42584035	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:42584035C>T	ENST00000600245.1	+	2	1932	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L	ZNF574_ENST00000222339.7_Missense_Mutation_p.P516L|ZNF574_ENST00000359044.4_Missense_Mutation_p.P426L|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	426	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACACCAGTCCCACCAGAGGAA	0.587																																						uc002osm.3		NaN																	0					0						c.(1276-1278)CCA>CTA		zinc finger protein 574							71.0	66.0	67.0					19																	42584035		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584035C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1277C>T	19.37:g.42584035C>T	ENSP00000469029:p.Pro426Leu					ZNF574_uc002osk.3_Missense_Mutation_p.P516L	p.P426L	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1446	+		Prostate(69;0.059)	426			Pro-rich.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1277C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	c	3.236	-0.156355	0.06544	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.07567	3.18;3.22	4.26	4.26	0.50523	.	0.824850	0.10527	N	0.664293	T	0.04861	0.0131	N	0.08118	0	0.32052	N	0.59685	B;B	0.11235	0.001;0.004	B;B	0.16289	0.001;0.015	T	0.11084	-1.0602	10	0.32370	T	0.25	-10.7061	8.2616	0.31788	0.0:0.8925:0.0:0.1075	.	426;515	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	L	516;426;33	ENSP00000222339:P516L;ENSP00000351939:P426L	ENSP00000222339:P516L	P	+	2	0	ZNF574	47275875	0.000000	0.05858	0.971000	0.41717	0.643000	0.38383	0.038000	0.13862	2.389000	0.81357	0.598000	0.82781	CCA		0.587	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752		10	168	0	0	0	0.008291	0	10	168		
ZNF45	7596	broad.mit.edu	37	19	44417605	44417605	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44417605G>C	ENST00000269973.5	-	10	3073	c.1983C>G	c.(1981-1983)gtC>gtG	p.V661V	ZNF45_ENST00000589703.1_Silent_p.V661V|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	661					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CATCAGCATGGACTCGCTGAT	0.433																																						uc002oxu.1		NaN																	0				ovary(1)	1						c.(1981-1983)GTC>GTG		zinc finger protein 45							88.0	80.0	82.0					19																	44417605		2203	4300	6503	SO:0001819	synonymous_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417605G>C	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1983C>G	19.37:g.44417605G>C						ZNF45_uc002oxw.1_Silent_p.V661V|ZNF45_uc002oxv.1_Silent_p.V661V	p.V661V	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	2082	-			661			C2H2-type 18.		P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	c.1983C>G	CCDS12632.1																																																																																				0.433	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1		NM_003425		10	94	0	0	0	0.013537	0	10	94		
ZNF45	7596	broad.mit.edu	37	19	44418218	44418218	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44418218G>C	ENST00000269973.5	-	10	2460	c.1370C>G	c.(1369-1371)tCa>tGa	p.S457*	ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S457*|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	457					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CAGAAGATTTGAGGCCTGGCT	0.473																																						uc002oxu.1		NaN																	0				ovary(1)	1						c.(1369-1371)TCA>TGA		zinc finger protein 45							57.0	59.0	58.0					19																	44418218		2203	4300	6503	SO:0001587	stop_gained	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418218G>C	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1370C>G	19.37:g.44418218G>C	ENSP00000269973:p.Ser457*					ZNF45_uc002oxw.1_Nonsense_Mutation_p.S457*|ZNF45_uc002oxv.1_Nonsense_Mutation_p.S457*	p.S457*	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	1469	-			457			C2H2-type 11.		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	c.1370C>G	CCDS12632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.156938|12.156938	0.99642|0.99642	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000328762|ENST00000269973	.|.	.|.	.|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.31113	.|N	.|0.008226	T|.	0.64821|.	0.2633|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67833|.	-0.5568|.	5|.	0.87932|0.66056	D|D	0|0.02	-7.0603|-7.0603	9.1476|9.1476	0.36942|0.36942	0.1109:0.0:0.8891:0.0|0.1109:0.0:0.8891:0.0	.|.	.|.	.|.	.|.	E|X	457|457	.|.	ENSP00000367176:Q457E|ENSP00000269973:S457X	Q|S	-|-	1|2	0|0	ZNF45|ZNF45	49110058|49110058	0.107000|0.107000	0.21998|0.21998	0.992000|0.992000	0.48379|0.48379	0.960000|0.960000	0.62799|0.62799	1.648000|1.648000	0.37271|0.37271	2.030000|2.030000	0.59900|0.59900	0.462000|0.462000	0.41574|0.41574	CAA|TCA		0.473	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1		NM_003425		5	125	0	0	0	0.001168	0	5	125		
ZNF223	7766	broad.mit.edu	37	19	44571040	44571040	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:44571040C>T	ENST00000434772.3	+	5	1314	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ZNF223_ENST00000591793.1_Silent_p.F463F	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GGAAGAGCTTCAGACGGTCCT	0.433																																						uc002oyf.1		NaN																	0				ovary(1)	1						c.(1057-1059)TTC>TTT		zinc finger protein 223							98.0	100.0	99.0					19																	44571040		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571040C>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1059C>T	19.37:g.44571040C>T						ZNF284_uc010ejd.2_RNA	p.F353F	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	1312	+		Prostate(69;0.0352)	353			C2H2-type 7.		Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.1059C>T	CCDS12635.1																																																																																				0.433	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2				17	140	0	0	0	0.006122	0	17	140		
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:49558229T>C	ENST00000597853.1	-	4	2923	c.52A>G	c.(52-54)Aca>Gca	p.T18A	CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000356213.4_Missense_Mutation_p.T16A|CGB7_ENST00000596965.1_Missense_Mutation_p.T18A			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	18			T -> A. {ECO:0000269|PubMed:11861891}.		apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T18A(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GATGCCCATGTCCCGCCCATG	0.657																																						uc002pmd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(52-54)ACA>GCA		chorionic gonadotropin, beta polypeptide 7	Choriogonadotropin alfa(DB00097)						89.0	66.0	74.0					19																	49558229		1504	2688	4192	SO:0001583	missense	94027				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49558229T>C	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.52A>G	19.37:g.49558229T>C	ENSP00000470813:p.Thr18Ala					CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.T18A	p.T18A	NM_033142	NP_149133	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	417	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	18		T -> A.			A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000597853.1	37	c.52A>G	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.329503	0.00017	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.38240	1.15;1.15	2.0	-0.578	0.11724	.	0.889152	0.09527	N	0.790128	T	0.12902	0.0313	.	.	.	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.09377	0.002;0.004	T	0.31833	-0.9929	9	0.05959	T	0.93	-23.5242	4.4433	0.11584	0.0:0.6359:0.0:0.3641	.	16;48	F5H162;A6NKQ9	.;CGB1_HUMAN	A	18;16	ENSP00000366493:T18A;ENSP00000348545:T16A	ENSP00000348545:T16A	T	-	1	0	CGB7	54250041	0.077000	0.21312	0.016000	0.15963	0.012000	0.07955	0.596000	0.24044	0.011000	0.14865	-1.140000	0.01884	ACA		0.657	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1		NM_033142		3	116	0	0	0	0.009096	0	3	116		
TNNT1	7138	broad.mit.edu	37	19	55652318	55652318	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:55652318C>T	ENST00000588981.1	-	9	524	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	TNNT1_ENST00000585321.2_Missense_Mutation_p.R37Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.R96Q|TNNT1_ENST00000291901.8_Missense_Mutation_p.R107Q|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.R96Q|TNNT1_ENST00000356783.5_Missense_Mutation_p.R96Q|TNNT1_ENST00000587465.2_Missense_Mutation_p.R37Q|TNNT1_ENST00000588426.1_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	107					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCTCTCTGACCGGCGCCGCTC	0.602											OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qjb.3		NaN																	0				ovary(1)	1						c.(319-321)CGG>CAG		troponin T1, skeletal, slow isoform a							56.0	51.0	53.0					19																	55652318		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55652318C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.320G>A	19.37:g.55652318C>T	ENSP00000467176:p.Arg107Gln		OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	TNNT1_uc002qiz.3_Missense_Mutation_p.R37Q|TNNT1_uc002qja.3_Missense_Mutation_p.R37Q|TNNT1_uc002qjc.3_Missense_Mutation_p.R107Q|TNNT1_uc002qje.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjd.3_Missense_Mutation_p.R96Q|TNNT1_uc002qjf.2_Missense_Mutation_p.R103Q	p.R107Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	9	409	-			107					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.320G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.750976	0.69533	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.92348	-3.02;-3.02;-3.02	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	M	0.83118	2.625	0.53688	D	0.999979	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.992;0.996;0.996;0.996;0.996	D	0.96207	0.9150	10	0.59425	D	0.04	-21.4644	14.4905	0.67647	0.0:1.0:0.0:0.0	.	107;96;107;107;96	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	Q	107;96;96;37;122	ENSP00000291901:R107Q;ENSP00000349233:R96Q;ENSP00000439640:R96Q	ENSP00000291901:R107Q	R	-	2	0	TNNT1	60344130	0.821000	0.29204	0.428000	0.26697	0.156000	0.22039	7.101000	0.76997	2.078000	0.62432	0.561000	0.74099	CGG		0.602	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2		NM_003283		4	36	0	0	0	0.009096	0	4	36		
ZNF587	84914	broad.mit.edu	37	19	58371385	58371385	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:58371385C>T	ENST00000339656.5	+	3	1787	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L492L|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L534L	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTTCCAGTCTCATTAAACACA	0.403																																					Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NaN																	0					0						c.(1603-1605)CTC>CTT		zinc finger protein 587							111.0	110.0	111.0					19																	58371385		2203	4300	6503	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371385C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1605C>T	19.37:g.58371385C>T						ZNF587_uc002qqb.2_Silent_p.L492L|ZNF587_uc010yhh.1_Silent_p.L492L|ZNF587_uc002qqi.1_Silent_p.L492L|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.L534L	p.L535L	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1743	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	535			C2H2-type 12.		A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.1605C>T	CCDS12964.1																																																																																				0.403	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2		NM_032828		16	89	0	0	0	0.00499	0	16	89		
ZNF329	79673	broad.mit.edu	37	19	58640693	58640693	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:58640693G>C	ENST00000598312.1	-	4	411	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	ZNF329_ENST00000358067.4_Missense_Mutation_p.Q60E	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATTGCTTCCTGAGTCCCTGGT	0.488																																						uc002qrn.2		NaN																	0				skin(1)	1						c.(178-180)CAG>GAG		zinc finger protein 329							135.0	122.0	126.0					19																	58640693		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640693G>C	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.178C>G	19.37:g.58640693G>C	ENSP00000470008:p.Gln60Glu					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.Q60E	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	415	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	60					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.178C>G	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	0.334	-0.954442	0.02285	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.06933	3.24;3.24	4.58	2.4	0.29515	.	0.829162	0.10294	N	0.691956	T	0.06234	0.0161	L	0.27053	0.805	0.20563	N	0.999889	B	0.10296	0.003	B	0.06405	0.002	T	0.37220	-0.9715	10	0.36615	T	0.2	-0.0992	6.2537	0.20861	0.0994:0.188:0.7126:0.0	.	60	Q86UD4	ZN329_HUMAN	E	60	ENSP00000350773:Q60E;ENSP00000439527:Q60E	ENSP00000350773:Q60E	Q	-	1	0	ZNF329	63332505	0.203000	0.23435	0.078000	0.20375	0.293000	0.27360	1.388000	0.34442	0.823000	0.34589	0.655000	0.94253	CAG		0.488	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1		NM_024620		3	120	0	0	0	0.004672	0	3	120		
CHMP2A	27243	broad.mit.edu	37	19	59063309	59063309	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr19:59063309C>G	ENST00000600118.1	-	4	930	c.505G>C	c.(505-507)Gat>Cat	p.D169H	CHMP2A_ENST00000312547.2_Missense_Mutation_p.D169H|CHMP2A_ENST00000601220.1_Missense_Mutation_p.D169H			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	169	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCAGCTCATCCAGAACCTGG	0.577																																						uc002qti.2		NaN																	0					0						c.(505-507)GAT>CAT		chromatin modifying protein 2A							154.0	134.0	140.0					19																	59063309		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063309C>G	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.505G>C	19.37:g.59063309C>G	ENSP00000469240:p.Asp169His					CHMP2A_uc002qtj.2_Missense_Mutation_p.D169H|CHMP2A_uc002qtk.2_Missense_Mutation_p.D169H	p.D169H	NM_198426	NP_940818	O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	4	931	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	169	DE->AA: Diminishes interaction with VPS4B.		Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.505G>C	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602038	0.87055	.	.	ENSG00000130724	ENST00000312547	T	0.74209	-0.82	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91590	0.5286	10	0.66056	D	0.02	.	15.6104	0.76713	0.0:1.0:0.0:0.0	.	169	O43633	CHM2A_HUMAN	H	169	ENSP00000310440:D169H	ENSP00000310440:D169H	D	-	1	0	CHMP2A	63755121	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.022000	0.64078	2.639000	0.89480	0.650000	0.86243	GAT		0.577	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1		NM_014453		21	44	0	0	0	0.008871	0	21	44		
ASAP2	8853	broad.mit.edu	37	2	9419502	9419502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:9419502C>G	ENST00000281419.3	+	2	523	c.183C>G	c.(181-183)atC>atG	p.I61M	ASAP2_ENST00000315273.4_Missense_Mutation_p.I61M	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	61					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGAAAGCAATCAACAGCTCTG	0.428																																						uc002qzh.2		NaN																	0					0						c.(181-183)ATC>ATG		ArfGAP with SH3 domain, ankyrin repeat and PH							127.0	120.0	122.0					2																	9419502		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9419502C>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.183C>G	2.37:g.9419502C>G	ENSP00000281419:p.Ile61Met					ASAP2_uc002qzi.2_Missense_Mutation_p.I61M	p.I61M	NM_003887	NP_003878	O43150	ASAP2_HUMAN			2	523	+			61					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.183C>G	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526289	0.27299	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04234	3.67;3.67	5.29	-7.92	0.01160	.	0.045962	0.85682	D	0.000000	T	0.08044	0.0201	L	0.35542	1.07	0.46725	D	0.99917	P;D	0.71674	0.782;0.998	B;D	0.78314	0.28;0.991	T	0.11941	-1.0567	10	0.23302	T	0.38	.	13.6189	0.62126	0.1985:0.6981:0.0:0.1034	.	61;61	O43150-2;O43150	.;ASAP2_HUMAN	M	61	ENSP00000281419:I61M;ENSP00000316404:I61M	ENSP00000281419:I61M	I	+	3	3	ASAP2	9336953	0.998000	0.40836	0.755000	0.31263	0.209000	0.24338	0.363000	0.20301	-1.545000	0.01719	-0.500000	0.04577	ATC		0.428	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1		NM_003887		23	35	0	0	0	0.005443	0	23	35		
RAD51AP2	729475	broad.mit.edu	37	2	17696923	17696923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:17696923C>G	ENST00000399080.2	-	1	2783	c.2760G>C	c.(2758-2760)aaG>aaC	p.K920N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	920										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGAGTCATTCTTTCTGTGAA	0.289																																						uc002rcl.1		NaN																	0				ovary(1)	1						c.(2758-2760)AAG>AAC		RAD51 associated protein 2							41.0	42.0	42.0					2																	17696923		1806	4066	5872	SO:0001583	missense	729475							g.chr2:17696923C>G	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2760G>C	2.37:g.17696923C>G	ENSP00000382030:p.Lys920Asn					RAD51AP2_uc010exn.1_Missense_Mutation_p.K911N	p.K920N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	2784	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		920						Missense_Mutation	SNP	ENST00000399080.2	37	c.2760G>C	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475736	0.26511	.	.	ENSG00000214842	ENST00000399080	T	0.26373	1.74	5.1	4.18	0.49190	.	.	.	.	.	T	0.33294	0.0858	L	0.27053	0.805	0.28623	N	0.90809	D	0.76494	0.999	D	0.74023	0.982	T	0.10314	-1.0635	9	0.66056	D	0.02	-2.417	6.5049	0.22190	0.0:0.7665:0.0:0.2335	.	920	Q09MP3	R51A2_HUMAN	N	920	ENSP00000382030:K920N	ENSP00000382030:K920N	K	-	3	2	RAD51AP2	17560404	0.997000	0.39634	0.999000	0.59377	0.028000	0.11728	0.374000	0.20501	1.430000	0.47334	0.655000	0.94253	AAG		0.289	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218		9	35	0	0	0	0.006214	0	9	35		
C2orf16	84226	broad.mit.edu	37	2	27801569	27801569	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:27801569G>C	ENST00000408964.2	+	1	2181	c.2130G>C	c.(2128-2130)caG>caC	p.Q710H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	710						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACGTGTGTCAGAATAGGGACT	0.418																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(2128-2130)CAG>CAC		hypothetical protein LOC84226							74.0	69.0	70.0					2																	27801569		1875	4112	5987	SO:0001583	missense	84226							g.chr2:27801569G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2130G>C	2.37:g.27801569G>C	ENSP00000386190:p.Gln710His						p.Q710H	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	2181	+	Acute lymphoblastic leukemia(172;0.155)		710					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2130G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919618	0.17982	.	.	ENSG00000221843	ENST00000408964	T	0.09073	3.02	4.27	1.5	0.22942	.	.	.	.	.	T	0.10252	0.0251	L	0.29908	0.895	0.09310	N	1	D	0.55800	0.973	P	0.53593	0.73	T	0.22521	-1.0214	9	0.72032	D	0.01	.	4.6363	0.12527	0.1983:0.1795:0.6222:0.0	.	710	Q68DN1	CB016_HUMAN	H	710	ENSP00000386190:Q710H	ENSP00000386190:Q710H	Q	+	3	2	C2orf16	27655073	0.004000	0.15560	0.049000	0.19019	0.016000	0.09150	0.902000	0.28459	0.339000	0.23719	-0.291000	0.09656	CAG		0.418	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		23	48	0	0	0	0.012319	0	23	48		
SLC30A6	55676	broad.mit.edu	37	2	32396442	32396442	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:32396442G>C	ENST00000282587.5	+	2	127	c.90G>C	c.(88-90)agG>agC	p.R30S	SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000379343.2_Splice_Site_p.R30S|SLC30A6_ENST00000435660.1_Splice_Site_p.R30S|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000538303.1_Intron	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	30					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGACCGAAGGGTAAGTTATT	0.348																																						uc002roe.1		NaN																	0					0						c.(88-90)AGG>AGC		solute carrier family 30 (zinc transporter),							88.0	85.0	86.0					2																	32396442		2203	4300	6503	SO:0001630	splice_region_variant	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32396442G>C	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.90+1G>C	2.37:g.32396442G>C						SLC30A6_uc002rof.1_Missense_Mutation_p.R30S|SLC30A6_uc010ymw.1_Intron|SLC30A6_uc010ezr.1_Missense_Mutation_p.R30S|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_5'UTR	p.R30S	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			2	127	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		30			Cytoplasmic (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.90G>C	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862542	0.51482	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660	T;T	0.62232	0.04;0.04	5.23	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.32530	0.975	0.80722	D	1	B;B;B	0.32203	0.314;0.36;0.126	B;B;B	0.34093	0.075;0.175;0.035	T	0.35325	-0.9793	10	0.22109	T	0.4	-12.9933	8.9556	0.35816	0.1716:0.0:0.8284:0.0	.	30;30;30	Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;ZNT6_HUMAN	S	30	ENSP00000282587:R30S;ENSP00000399005:R30S	ENSP00000282587:R30S	R	+	3	2	SLC30A6	32249946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.078000	0.50096	1.192000	0.43071	0.561000	0.74099	AGG		0.348	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			Missense_Mutation	7	36	0	0	0	0.00308	0	7	36		
PLEKHH2	130271	broad.mit.edu	37	2	43937144	43937144	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:43937144C>G	ENST00000282406.4	+	12	2092	c.1982C>G	c.(1981-1983)tCt>tGt	p.S661C		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	661	Ser-rich.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCTCTCCTCTGTGGCTTCT	0.458																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1981-1983)TCT>TGT		pleckstrin homology domain containing, family H							188.0	181.0	183.0					2																	43937144		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937144C>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1982C>G	2.37:g.43937144C>G	ENSP00000282406:p.Ser661Cys					PLEKHH2_uc002rte.3_Missense_Mutation_p.S661C|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S660C	p.S661C	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			12	2065	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	661			Ser-rich.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.1982C>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243425	0.79912	.	.	ENSG00000152527	ENST00000282406	T	0.12255	2.7	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.03619	-1.1019	10	0.87932	D	0	-15.8437	18.5842	0.91182	0.0:1.0:0.0:0.0	.	661;98;661	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	C	661	ENSP00000282406:S661C	ENSP00000282406:S661C	S	+	2	0	PLEKHH2	43790648	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.359000	0.79477	2.371000	0.80710	0.563000	0.77884	TCT		0.458	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		8	166	0	0	0	0.004482	0	8	166		
CHAC2	494143	broad.mit.edu	37	2	54001597	54001597	+	Missense_Mutation	SNP	C	C	G	rs34156607		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:54001597C>G	ENST00000295304.4	+	3	585	c.490C>G	c.(490-492)Ctt>Gtt	p.L164V	GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	164										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGAGCATCTTTTCGCTTT	0.348																																						uc002rxk.1		NaN																	0					0						c.(490-492)CTT>GTT		ChaC, cation transport regulator-like 2							58.0	60.0	60.0					2																	54001597		2203	4300	6503	SO:0001583	missense	494143							g.chr2:54001597C>G	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.490C>G	2.37:g.54001597C>G	ENSP00000295304:p.Leu164Val					ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	p.L164V	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		3	585	+			164					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.490C>G	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688208	0.68271	.	.	ENSG00000143942	ENST00000295304	T	0.52983	0.64	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.53780	1.695	0.58432	D	0.999999	P	0.34892	0.474	P	0.47827	0.558	T	0.48456	-0.9034	10	0.30854	T	0.27	-18.1046	10.1542	0.42812	0.0:0.7921:0.1376:0.0703	.	164	Q8WUX2	CHAC2_HUMAN	V	164	ENSP00000295304:L164V	ENSP00000295304:L164V	L	+	1	0	CHAC2	53855101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.886000	0.63149	2.854000	0.98071	0.655000	0.94253	CTT		0.348	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1		NM_001008708		7	49	0	0	0	0.00308	0	7	49		
C2orf78	388960	broad.mit.edu	37	2	74043855	74043855	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:74043855C>T	ENST00000409561.1	+	3	2626	c.2505C>T	c.(2503-2505)ctC>ctT	p.L835L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	835										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGACCAGTCTCCGGTCACTGC	0.507																																						uc002sjr.1		NaN																	0				ovary(2)	2						c.(2503-2505)CTC>CTT		hypothetical protein LOC388960							93.0	90.0	91.0					2																	74043855		1944	4141	6085	SO:0001819	synonymous_variant	388960							g.chr2:74043855C>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.2505C>T	2.37:g.74043855C>T							p.L835L	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2626	+			835						Silent	SNP	ENST00000409561.1	37	c.2505C>T	CCDS46338.1																																																																																				0.507	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1		NM_001080474		14	79	0	0	0	0.004007	0	14	79		
TSGA10	80705	broad.mit.edu	37	2	99721848	99721848	+	Missense_Mutation	SNP	C	C	G	rs201326323		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:99721848C>G	ENST00000393483.3	-	9	1277	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TSGA10_ENST00000355053.4_Missense_Mutation_p.E145Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000410001.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.E145Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	145					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCCAGCTCCTCTATCCTTTGT	0.338																																						uc002szg.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(433-435)GAG>CAG		testis specific, 10							60.0	63.0	62.0					2																	99721848		2202	4300	6502	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99721848C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.433G>C	2.37:g.99721848C>G	ENSP00000377123:p.Glu145Gln					TSGA10_uc002szh.3_Missense_Mutation_p.E145Q|TSGA10_uc002szi.3_Missense_Mutation_p.E145Q|TSGA10_uc010fin.1_Missense_Mutation_p.E145Q|TSGA10_uc010yvn.1_Missense_Mutation_p.E145Q	p.E145Q	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			7	1061	-			145					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.433G>C	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243666	0.79912	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000016	T	0.68183	0.2973	M	0.75615	2.305	0.49483	D	0.999791	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.67082	-0.5760	10	0.37606	T	0.19	-14.4133	17.0511	0.86519	0.0:1.0:0.0:0.0	.	145;145	B7Z925;Q9BZW7	.;TSG10_HUMAN	Q	145	ENSP00000377123:E145Q;ENSP00000386956:E145Q;ENSP00000347161:E145Q;ENSP00000444419:E145Q;ENSP00000386508:E145Q;ENSP00000377122:E145Q;ENSP00000445623:E145Q	ENSP00000347161:E145Q	E	-	1	0	TSGA10	99088280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.883000	0.69721	2.593000	0.87608	0.650000	0.86243	GAG		0.338	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1		NM_182911		3	46	0	0	0	0.004672	0	3	46		
SLC9A4	389015	broad.mit.edu	37	2	103128724	103128724	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:103128724G>C	ENST00000295269.4	+	7	2008	c.1551G>C	c.(1549-1551)gtG>gtC	p.V517V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	517					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACTACCAAGTGAGAGACAAGT	0.453																																						uc002tbz.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1549-1551)GTG>GTC		solute carrier family 9 (sodium/hydrogen							156.0	161.0	160.0					2																	103128724		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103128724G>C		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1551G>C	2.37:g.103128724G>C							p.V517V	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			7	2008	+			517			Cytoplasmic (Potential).		Q69YK0	Silent	SNP	ENST00000295269.4	37	c.1551G>C	CCDS33264.1																																																																																				0.453	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1		NM_001011552.3		20	79	0	0	0	0.010504	0	20	79		
CNTNAP5	129684	broad.mit.edu	37	2	125367461	125367461	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:125367461C>T	ENST00000431078.1	+	12	2201	c.1837C>T	c.(1837-1839)Cca>Tca	p.P613S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	613	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCAGCGGCCCACTGGGACC	0.522																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(1837-1839)CCA>TCA		contactin associated protein-like 5 precursor							70.0	70.0	70.0					2																	125367461		1877	4113	5990	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367461C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1837C>T	2.37:g.125367461C>T	ENSP00000399013:p.Pro613Ser					CNTNAP5_uc010flu.2_Missense_Mutation_p.P614S	p.P613S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2201	+			613			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1837C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675396	0.67928	.	.	ENSG00000155052	ENST00000431078	T	0.15603	2.41	5.66	3.81	0.43845	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.132397	0.33834	N	0.004512	T	0.40815	0.1132	M	0.78916	2.43	0.52099	D	0.999946	D	0.89917	1.0	D	0.85130	0.997	T	0.19910	-1.0291	10	0.46703	T	0.11	.	11.8906	0.52626	0.1379:0.7296:0.1325:0.0	.	613	Q8WYK1	CNTP5_HUMAN	S	613	ENSP00000399013:P613S	ENSP00000399013:P613S	P	+	1	0	CNTNAP5	125083931	0.989000	0.36119	0.695000	0.30226	0.802000	0.45316	3.363000	0.52321	0.807000	0.34208	0.655000	0.94253	CCA		0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				5	66	0	0	0	0.000602	0	5	66		
NEB	4703	broad.mit.edu	37	2	152470790	152470790	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:152470790A>G	ENST00000172853.10	-	73	11019	c.10872T>C	c.(10870-10872)gaT>gaC	p.D3624D	NEB_ENST00000397345.3_Splice_Site_p.D3867D|NEB_ENST00000603639.1_Splice_Site_p.D3867D|NEB_ENST00000604864.1_Splice_Site_p.D3867D|NEB_ENST00000409198.1_Splice_Site_p.D3624D|NEB_ENST00000427231.2_Splice_Site_p.D3867D			P20929	NEBU_HUMAN	nebulin	3624					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCCACTCACATCACTCTGCA	0.458																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(10870-10872)GAT>GAC		nebulin isoform 3							79.0	76.0	77.0					2																	152470790		2000	4196	6196	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152470790A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10872+1T>C	2.37:g.152470790A>G							p.D3624D	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	73	11063	-			3624			Nebulin 99.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10872T>C																																																																																					0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	Silent	19	32	0	0	0	0.012319	0	19	32		
DHRS9	10170	broad.mit.edu	37	2	169939948	169939948	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:169939948C>T	ENST00000327239.4	+	6	1927	c.423C>T	c.(421-423)ctC>ctT	p.L141L	DHRS9_ENST00000357546.2_Silent_p.L141L|DHRS9_ENST00000412271.1_Silent_p.L141L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Silent_p.L141L|DHRS9_ENST00000436483.2_Silent_p.L141L|DHRS9_ENST00000432060.2_Silent_p.L201L|DHRS9_ENST00000602501.1_Silent_p.L141L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	141					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.L141L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TGTTTGGACTCATCAGTGTGA	0.488																																						uc002uep.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(421-423)CTC>CTT		NADP-dependent retinol dehydrogenase/reductase							151.0	139.0	143.0					2																	169939948		2203	4300	6503	SO:0001819	synonymous_variant	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169939948C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.423C>T	2.37:g.169939948C>T						DHRS9_uc002ueq.2_Silent_p.L141L|DHRS9_uc010zdc.1_Silent_p.L201L|DHRS9_uc010zdd.1_Silent_p.L141L|DHRS9_uc010zde.1_Silent_p.L141L	p.L141L	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN			6	1927	+			141					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP	ENST00000327239.4	37	c.423C>T	CCDS2231.1																																																																																				0.488	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3		NM_005771		11	73	0	0	0	0.008291	0	11	73		
TTN	7273	broad.mit.edu	37	2	179413733	179413733	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:179413733C>T	ENST00000591111.1	-	289	87921	c.87697G>A	c.(87697-87699)Gag>Aag	p.E29233K	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E30874K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22001K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21934K|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21809K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28306K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29233	Fibronectin type-III 113. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			ACACATGCCTCTGCATTCACC	0.423																																						uc010zfg.1		NaN																	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.(84916-84918)GAG>AAG		titin isoform N2-A							130.0	126.0	127.0					2																	179413733		1988	4178	6166	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413733C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87697G>A	2.37:g.179413733C>T	ENSP00000465570:p.Glu29233Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22001K|TTN_uc010zfi.1_Missense_Mutation_p.E21934K|TTN_uc010zfj.1_Missense_Mutation_p.E21809K	p.E28306K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85140	-			29233					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.84916G>A		.	.	.	.	.	.	.	.	.	.	C	18.61	3.661550	0.67700	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.3	4.4	0.53042	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34832	0.0911	N	0.03999	-0.3	0.41178	D	0.986215	P;P;P;P	0.36683	0.565;0.565;0.565;0.565	B;B;B;B	0.37550	0.253;0.253;0.253;0.253	T	0.46978	-0.9152	9	0.87932	D	0	.	16.1171	0.81314	0.0:0.8659:0.1341:0.0	.	21809;21934;22001;29233	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	28306;21809;22001;21934;21806	ENSP00000343764:E28306K;ENSP00000434586:E21809K;ENSP00000340554:E22001K;ENSP00000352154:E21934K	ENSP00000340554:E22001K	E	-	1	0	TTN	179121979	1.000000	0.71417	0.922000	0.36590	0.986000	0.74619	6.334000	0.72944	1.308000	0.44962	0.563000	0.77884	GAG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		18	83	0	0	0	0.007413	0	18	83		
TTN	7273	broad.mit.edu	37	2	179501355	179501355	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:179501355A>G	ENST00000591111.1	-	175	36400	c.36176T>C	c.(36175-36177)gTt>gCt	p.V12059A	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13700A|TTN_ENST00000342175.6_Missense_Mutation_p.V4827A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4760A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4635A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11132A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12059	Ig-like 80.				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)			TGAAGAGCCAACGAACTCTGA	0.463																																						uc010zfg.1		NaN																	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.(33394-33396)GTT>GCT		titin isoform N2-A							105.0	100.0	102.0					2																	179501355		1933	4150	6083	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501355A>G	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.36176T>C	2.37:g.179501355A>G	ENSP00000465570:p.Val12059Ala					TTN_uc010zfh.1_Missense_Mutation_p.V4827A|TTN_uc010zfi.1_Missense_Mutation_p.V4760A|TTN_uc010zfj.1_Missense_Mutation_p.V4635A|TTN_uc010fre.1_Missense_Mutation_p.V993A	p.V11132A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		174	33619	-			12059					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.33395T>C		.	.	.	.	.	.	.	.	.	.	A	14.33	2.503876	0.44558	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.33411	0.0862	N	0.21142	0.635	0.41498	D	0.988268	B;B;B;B	0.30824	0.296;0.296;0.296;0.104	B;B;B;B	0.31614	0.133;0.133;0.133;0.133	T	0.27839	-1.0062	9	0.87932	D	0	.	15.7391	0.77870	1.0:0.0:0.0:0.0	.	4635;4760;4827;12059	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	11132;4635;4827;4760;4635	ENSP00000343764:V11132A;ENSP00000434586:V4635A;ENSP00000340554:V4827A;ENSP00000352154:V4760A	ENSP00000340554:V4827A	V	-	2	0	TTN	179209600	1.000000	0.71417	0.610000	0.28997	0.878000	0.50629	9.226000	0.95229	2.174000	0.68829	0.524000	0.50904	GTT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	63	0	0	0	0.001168	0	6	63		
STAT1	6772	broad.mit.edu	37	2	191839600	191839600	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:191839600C>G	ENST00000361099.3	-	24	2581	c.2194G>C	c.(2194-2196)Gac>Cac	p.D732H	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.D732H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	732					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GACACCTCGTCAAACTCCTCA	0.493																																						uc002usj.2		NaN																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(2194-2196)GAC>CAC		signal transducer and activator of transcription	Fludarabine(DB01073)						130.0	112.0	118.0					2																	191839600		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191839600C>G		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.2194G>C	2.37:g.191839600C>G	ENSP00000354394:p.Asp732His					STAT1_uc010fse.1_Missense_Mutation_p.D732H	p.D732H	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		24	2582	-			732					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.2194G>C	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422693	0.83559	.	.	ENSG00000115415	ENST00000361099;ENST00000409465	D;D	0.96885	-4.16;-4.16	5.65	5.65	0.86999	Signal transducer and activation of transcription 1, TAZ2 binding domain, C-terminal (1);	0.311359	0.40728	N	0.001035	D	0.96608	0.8893	L	0.59436	1.845	0.80722	D	1	P	0.45126	0.851	P	0.53450	0.726	D	0.96272	0.9199	10	0.72032	D	0.01	-37.7762	14.091	0.64990	0.0:0.929:0.0:0.071	.	732	P42224	STAT1_HUMAN	H	732	ENSP00000354394:D732H;ENSP00000386244:D732H	ENSP00000354394:D732H	D	-	1	0	STAT1	191547845	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	1.964000	0.40462	2.941000	0.99782	0.655000	0.94253	GAC		0.493	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3		NM_007315		7	40	0	0	0	0.001984	0	7	40		
SDPR	8436	broad.mit.edu	37	2	192701173	192701173	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:192701173C>T	ENST00000304141.4	-	2	1083	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_004657.5	NP_004648.1			serum deprivation response									p.E252*(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			ATCTTTTTCTCGATGTTCTGG	0.423																																						uc002utb.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(754-756)GAG>AAG		serum deprivation response protein	Phosphatidylserine(DB00144)						228.0	244.0	238.0					2																	192701173		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701173C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.754G>A	2.37:g.192701173C>T	ENSP00000305675:p.Glu252Lys						p.E252K	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1084	-			252			Potential.			Missense_Mutation	SNP	ENST00000304141.4	37	c.754G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	36	5.639493	0.96693	.	.	ENSG00000168497	ENST00000304141	T	0.63255	-0.03	5.01	5.01	0.66863	.	0.055373	0.64402	D	0.000001	T	0.80401	0.4616	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82818	-0.0269	10	0.87932	D	0	-26.3521	18.5208	0.90951	0.0:1.0:0.0:0.0	.	252	O95810	SDPR_HUMAN	K	252	ENSP00000305675:E252K	ENSP00000305675:E252K	E	-	1	0	SDPR	192409418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.628000	0.89032	0.563000	0.77884	GAG		0.423	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2		NM_004657		84	186	0	0	0	0.01441	0	84	186		
DNAH7	56171	broad.mit.edu	37	2	196671502	196671502	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:196671502G>C	ENST00000312428.6	-	54	10238	c.10138C>G	c.(10138-10140)Caa>Gaa	p.Q3380E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3380					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCATCCTTTGAAACTCATTT	0.383																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(10138-10140)CAA>GAA		dynein, axonemal, heavy chain 7							147.0	132.0	136.0					2																	196671502		1864	4107	5971	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196671502G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10138C>G	2.37:g.196671502G>C	ENSP00000311273:p.Gln3380Glu						p.Q3380E	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			54	10239	-			3380					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10138C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456727	0.43634	.	.	ENSG00000118997	ENST00000312428	T	0.08008	3.14	5.53	5.53	0.82687	Dynein heavy chain (1);	0.054955	0.64402	D	0.000001	T	0.10766	0.0263	L	0.39020	1.185	0.80722	D	1	B	0.23735	0.09	B	0.29267	0.1	T	0.17319	-1.0373	10	0.33141	T	0.24	.	19.2483	0.93912	0.0:0.0:1.0:0.0	.	3380	Q8WXX0	DYH7_HUMAN	E	3380	ENSP00000311273:Q3380E	ENSP00000311273:Q3380E	Q	-	1	0	DNAH7	196379747	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	9.216000	0.95154	2.882000	0.98803	0.655000	0.94253	CAA		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		17	36	0	0	0	0.004007	0	17	36		
HECW2	57520	broad.mit.edu	37	2	197138838	197138838	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:197138838C>A	ENST00000260983.3	-	16	3327	c.3145G>T	c.(3145-3147)Gat>Tat	p.D1049Y	HECW2_ENST00000409111.1_Missense_Mutation_p.D693Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1049	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGTCGAGAATCTTCTCCTACC	0.448																																						uc002utm.1		NaN																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3145-3147)GAT>TAT		HECT, C2 and WW domain containing E3 ubiquitin							282.0	218.0	239.0					2																	197138838		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197138838C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3145G>T	2.37:g.197138838C>A	ENSP00000260983:p.Asp1049Tyr					HECW2_uc002utl.1_Missense_Mutation_p.D693Y	p.D1049Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			16	3328	-			1049			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3145G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435723	0.83885	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.83992	-1.79;-1.79	5.45	5.45	0.79879	.	0.570852	0.19679	N	0.108559	D	0.86665	0.5987	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.80395	-0.1400	10	0.06757	T	0.87	.	17.6425	0.88140	0.0:1.0:0.0:0.0	.	1049	Q9P2P5	HECW2_HUMAN	Y	693;1049	ENSP00000386775:D693Y;ENSP00000260983:D1049Y	ENSP00000260983:D1049Y	D	-	1	0	HECW2	196847083	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.303000	0.78871	2.836000	0.97738	0.655000	0.94253	GAT		0.448	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3		NM_020760		14	24	1	0	0.000219431	0.00245	0.000230006	14	24		
RFTN2	130132	broad.mit.edu	37	2	198508944	198508944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:198508944C>A	ENST00000295049.4	-	3	912	c.376G>T	c.(376-378)Gag>Tag	p.E126*		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	126					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGACATTCCTCAATCACGAGC	0.433																																						uc002uuo.3		NaN																	0					0						c.(376-378)GAG>TAG		raftlin family member 2							178.0	168.0	171.0					2																	198508944		2203	4300	6503	SO:0001587	stop_gained	130132					plasma membrane		g.chr2:198508944C>A	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.376G>T	2.37:g.198508944C>A	ENSP00000295049:p.Glu126*						p.E126*	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			3	778	-			126					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Nonsense_Mutation	SNP	ENST00000295049.4	37	c.376G>T	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361313	0.98235	.	.	ENSG00000162944	ENST00000295049	.	.	.	5.39	5.39	0.77823	.	0.148423	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.5447	17.521	0.87787	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	ENSP00000295049:E126X	E	-	1	0	RFTN2	198217189	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.728000	0.62000	2.801000	0.96364	0.650000	0.86243	GAG		0.433	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2		NM_144629		10	39	1	0	6.40141e-05	0.010729	6.74241e-05	10	39		
RFTN2	130132	broad.mit.edu	37	2	198508990	198508990	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:198508990C>G	ENST00000295049.4	-	3	866	c.330G>C	c.(328-330)aaG>aaC	p.K110N		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	110					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CTGCCGAATTCTTTGGGCTGT	0.463																																						uc002uuo.3		NaN																	0					0						c.(328-330)AAG>AAC		raftlin family member 2							131.0	122.0	125.0					2																	198508990		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198508990C>G	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.330G>C	2.37:g.198508990C>G	ENSP00000295049:p.Lys110Asn						p.K110N	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			3	732	-			110					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.330G>C	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898800	0.52227	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.32272	1.5;1.46	5.39	0.78	0.18556	.	0.670902	0.16367	N	0.217508	T	0.28267	0.0698	M	0.62723	1.935	0.32707	N	0.512116	P	0.38504	0.634	B	0.39465	0.3	T	0.37709	-0.9694	10	0.66056	D	0.02	-12.5918	5.1065	0.14787	0.1456:0.5562:0.0:0.2982	.	110	Q52LD8	RFTN2_HUMAN	N	110	ENSP00000295049:K110N;ENSP00000398128:K110N	ENSP00000295049:K110N	K	-	3	2	RFTN2	198217235	0.999000	0.42202	0.231000	0.23993	0.704000	0.40688	0.426000	0.21363	0.256000	0.21614	-0.355000	0.07637	AAG		0.463	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2		NM_144629		9	29	0	0	0	0.004482	0	9	29		
BMPR2	659	broad.mit.edu	37	2	203420028	203420028	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:203420028C>T	ENST00000374580.4	+	12	2179	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	547	Poly-Ser.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CCAGATTATTCTTCCTCCTCA	0.383																																						uc002uzf.3		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(1639-1641)TCT>TTT		bone morphogenetic protein receptor type II							114.0	113.0	114.0					2																	203420028		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420028C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1640C>T	2.37:g.203420028C>T	ENSP00000363708:p.Ser547Phe					BMPR2_uc010ftr.2_Intron	p.S547F	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	2788	+			547			Poly-Ser.|Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1640C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419674	0.62622	.	.	ENSG00000204217	ENST00000374580	D	0.89746	-2.56	5.43	5.43	0.79202	.	0.109403	0.64402	D	0.000004	D	0.90535	0.7034	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	D	0.90306	0.4333	10	0.42905	T	0.14	.	19.2689	0.94000	0.0:1.0:0.0:0.0	.	547	Q13873	BMPR2_HUMAN	F	547	ENSP00000363708:S547F	ENSP00000363708:S547F	S	+	2	0	BMPR2	203128273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.557000	0.73937	2.546000	0.85860	0.655000	0.94253	TCT		0.383	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1		NM_001204		15	24	0	0	0	0.00245	0	15	24		
ADAM23	8745	broad.mit.edu	37	2	207310119	207310119	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:207310119C>T	ENST00000264377.3	+	2	631	c.303C>T	c.(301-303)atC>atT	p.I101I	ADAM23_ENST00000374415.3_Silent_p.I101I|ADAM23_ENST00000374416.1_Silent_p.I101I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	101					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCAGTAATATCAGTTACAGCA	0.413																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NaN																	0				skin(2)|ovary(1)	3						c.(301-303)ATC>ATT		ADAM metallopeptidase domain 23 preproprotein							146.0	136.0	139.0					2																	207310119		2203	4300	6503	SO:0001819	synonymous_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207310119C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.303C>T	2.37:g.207310119C>T						ADAM23_uc010ziv.1_RNA	p.I101I	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	2	526	+			101					A2RU59	Silent	SNP	ENST00000264377.3	37	c.303C>T	CCDS2369.1																																																																																				0.413	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812		5	92	0	0	0	0.000602	0	5	92		
ADAM23	8745	broad.mit.edu	37	2	207437917	207437917	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:207437917C>G	ENST00000264377.3	+	18	2063	c.1735C>G	c.(1735-1737)Cag>Gag	p.Q579E	ADAM23_ENST00000374415.3_Missense_Mutation_p.Q579E|ADAM23_ENST00000374416.1_Missense_Mutation_p.Q579E	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	579	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGACTCTGGTCAGGTATGGCG	0.408																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NaN																	0				skin(2)|ovary(1)	3						c.(1735-1737)CAG>GAG		ADAM metallopeptidase domain 23 preproprotein							235.0	207.0	216.0					2																	207437917		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207437917C>G	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1735C>G	2.37:g.207437917C>G	ENSP00000264377:p.Gln579Glu					ADAM23_uc010ziv.1_RNA	p.Q579E	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	18	1958	+			579			Disintegrin.|Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1735C>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512620	0.64522	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10382	2.88;2.88;2.88	5.81	5.81	0.92471	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.64402	D	0.000020	T	0.11922	0.0290	N	0.25060	0.705	0.80722	D	1	B	0.30584	0.286	B	0.37888	0.26	T	0.26744	-1.0094	10	0.25751	T	0.34	.	18.9069	0.92466	0.0:1.0:0.0:0.0	.	579	O75077	ADA23_HUMAN	E	579;579;473;579	ENSP00000264377:Q579E;ENSP00000363537:Q579E;ENSP00000363536:Q579E	ENSP00000264377:Q579E	Q	+	1	0	ADAM23	207146162	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.521000	0.73778	2.755000	0.94549	0.650000	0.86243	CAG		0.408	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812		27	63	0	0	0	0.00632	0	27	63		
CRYGB	1419	broad.mit.edu	37	2	209007482	209007482	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:209007482C>G	ENST00000260988.4	-	3	455	c.408G>C	c.(406-408)gaG>gaC	p.E136D		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	136	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.E136E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGTTGGGCATCTCATAGAGGA	0.542																																						uc002vcp.3		NaN																	1	Substitution - coding silent(1)		cervix(1)		0						c.(406-408)GAG>GAC		crystallin, gamma B							106.0	105.0	106.0					2																	209007482		2203	4300	6503	SO:0001583	missense	1419				visual perception		structural constituent of eye lens	g.chr2:209007482C>G		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.408G>C	2.37:g.209007482C>G	ENSP00000260988:p.Glu136Asp						p.E136D	NM_005210	NP_005201	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	3	441	-			136			Beta/gamma crystallin 'Greek key' 4.		Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	c.408G>C	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193342	0.58017	.	.	ENSG00000182187	ENST00000260988	T	0.79940	-1.32	4.73	4.73	0.59995	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.047167	0.85682	D	0.000000	D	0.85004	0.5598	M	0.88031	2.925	0.58432	D	0.999993	B	0.25772	0.134	B	0.32583	0.148	D	0.85450	0.1160	10	0.62326	D	0.03	.	15.5827	0.76459	0.0:1.0:0.0:0.0	.	136	P07316	CRGB_HUMAN	D	136	ENSP00000260988:E136D	ENSP00000260988:E136D	E	-	3	2	CRYGB	208715727	0.998000	0.40836	0.998000	0.56505	0.954000	0.61252	2.317000	0.43770	2.614000	0.88457	0.561000	0.74099	GAG		0.542	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2		NM_005210		34	81	0	0	0	0.004289	0	34	81		
STK16	8576	broad.mit.edu	37	2	220112206	220112206	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:220112206G>C	ENST00000409638.3	+	5	682	c.510G>C	c.(508-510)atG>atC	p.M170I	STK16_ENST00000409743.1_Missense_Mutation_p.M170I|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409516.3_Missense_Mutation_p.M52I|STK16_ENST00000409260.1_Missense_Mutation_p.M215I|GLB1L_ENST00000295759.7_5'Flank|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.M170I|STK16_ENST00000486813.1_3'UTR	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	170	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGTTCCATGAATCAAGCAT	0.507																																					Pancreas(34;887 922 17165 36961 39622)	uc002vko.2		NaN																	0				skin(1)	1						c.(508-510)ATG>ATC		serine/threonine kinase 16							142.0	144.0	143.0					2																	220112206		1933	4126	6059	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220112206G>C	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.510G>C	2.37:g.220112206G>C	ENSP00000386928:p.Met170Ile					GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.M52I|STK16_uc010zky.1_Missense_Mutation_p.M170I|STK16_uc010fwf.2_Missense_Mutation_p.M170I|STK16_uc002vkp.2_Missense_Mutation_p.M170I|STK16_uc002vkr.2_Missense_Mutation_p.M103I|STK16_uc002vkq.2_Missense_Mutation_p.M215I	p.M170I	NM_001008910	NP_001008910	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	667	+		Renal(207;0.0474)	170			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.510G>C	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796450	0.50208	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260;ENST00000409743	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	L	0.42245	1.32	0.80722	D	1	P;P;P;B;P	0.45986	0.47;0.64;0.87;0.086;0.706	B;B;P;B;B	0.48141	0.094;0.228;0.568;0.179;0.379	T	0.61302	-0.7090	10	0.34782	T	0.22	-19.8044	19.1054	0.93293	0.0:0.0:1.0:0.0	.	170;170;52;215;170	B4DXY6;B8ZZI5;B4DPS1;B8ZZN3;O75716	.;.;.;.;STK16_HUMAN	I	170;170;52;215;170	ENSP00000386928:M170I;ENSP00000379964:M170I;ENSP00000386309:M52I;ENSP00000387156:M215I;ENSP00000386553:M170I	ENSP00000379964:M170I	M	+	3	0	STK16	219820450	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.501000	0.97979	2.744000	0.94065	0.655000	0.94253	ATG		0.507	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1				29	143	0	0	0	0.008361	0	29	143		
INHA	3623	broad.mit.edu	37	2	220437228	220437228	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:220437228C>T	ENST00000243786.2	+	1	312	c.132C>T	c.(130-132)ccC>ccT	p.P44P	INHA_ENST00000489456.1_Intron|OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000289656.3_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_5'Flank|OBSL1_ENST00000373876.1_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	44					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCCCCCCGCGGTGACCA	0.687											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002vmk.1		NaN																	0				ovary(1)	1						c.(130-132)CCC>CCT		inhibin alpha subunit precursor							17.0	19.0	18.0					2																	220437228		2200	4296	6496	SO:0001819	synonymous_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220437228C>T		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.132C>T	2.37:g.220437228C>T			OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	OBSL1_uc010fwk.2_5'Flank|OBSL1_uc002vmi.2_5'Flank|OBSL1_uc002vmj.2_5'Flank	p.P44P	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	1	276	+		Renal(207;0.0183)	44					A8K8H5	Silent	SNP	ENST00000243786.2	37	c.132C>T	CCDS2444.1																																																																																				0.687	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1				7	10	0	0	0	0.001984	0	7	10		
DAW1	164781	broad.mit.edu	37	2	228771965	228771965	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:228771965G>C	ENST00000309931.2	+	10	1053	c.970G>C	c.(970-972)Gat>Cat	p.D324H	DAW1_ENST00000545118.1_Missense_Mutation_p.D309H|DAW1_ENST00000373666.2_Missense_Mutation_p.D324H	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	324						cilium (GO:0005929)											TGCTTCAGCTGATGGTAGGTG	0.373																																						uc002vpn.1		NaN																	0				breast(1)	1						c.(970-972)GAT>CAT		WD repeat domain 69							151.0	139.0	143.0					2																	228771965		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228771965G>C		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.970G>C	2.37:g.228771965G>C	ENSP00000311899:p.Asp324His					WDR69_uc010zlw.1_Missense_Mutation_p.D309H|WDR69_uc002vpo.1_RNA	p.D324H	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	10	1049	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	324			WD 6.		Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.970G>C	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827187	0.71143	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	D;D;D	0.89415	-2.51;-2.51;-2.51	5.34	5.34	0.76211	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	0.97114	0.9057	H	0.99143	4.445	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.98974	1.0802	10	0.87932	D	0	.	17.6018	0.88027	0.0:0.0:1.0:0.0	.	324	Q8N136	WDR69_HUMAN	H	324;324;309	ENSP00000362770:D324H;ENSP00000311899:D324H;ENSP00000437887:D309H	ENSP00000311899:D324H	D	+	1	0	WDR69	228480209	1.000000	0.71417	0.948000	0.38648	0.769000	0.43574	8.379000	0.90146	2.477000	0.83638	0.655000	0.94253	GAT		0.373	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1		NM_178821		5	21	0	0	0	0.000602	0	5	21		
SP100	6672	broad.mit.edu	37	2	231406036	231406036	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:231406036G>C	ENST00000340126.4	+	27	2383	c.2352G>C	c.(2350-2352)ttG>ttC	p.L784F	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCTCCTCTTGAAGGTCTACT	0.388																																						uc002vqu.1		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2350-2352)TTG>TTC		nuclear antigen Sp100 isoform 1							104.0	95.0	98.0					2																	231406036		1847	4107	5954	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231406036G>C	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2352G>C	2.37:g.231406036G>C	ENSP00000343023:p.Leu784Phe					SP100_uc010fxp.1_Missense_Mutation_p.L102F	p.L784F	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	27	2493	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	Error:Variant_position_missing_in_P23497_after_alignment					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2352G>C	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.77|15.77	2.932722|2.932722	0.52866|0.52866	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|T	.|0.43688	.|0.94	4.25|4.25	3.37|3.37	0.38596|0.38596	.|.	.|.	.|.	.|.	.|.	T|T	0.52191|0.52191	0.1719|0.1719	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.53173|0.53173	-0.8476|-0.8476	5|9	.|0.87932	.|D	.|0	.|.	8.5023|8.5023	0.33165|0.33165	0.1054:0.0:0.8946:0.0|0.1054:0.0:0.8946:0.0	.|.	.|254;784	.|E9PHN1;P23497-4	.|.;.	Q|F	158|784;254	.|ENSP00000343023:L784F	.|ENSP00000343023:L784F	E|L	+|+	1|3	0|2	SP100|SP100	231114280|231114280	0.518000|0.518000	0.26234|0.26234	0.992000|0.992000	0.48379|0.48379	0.701000|0.701000	0.40568|0.40568	0.382000|0.382000	0.20635|0.20635	1.391000|1.391000	0.46566|0.46566	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.388	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1		NM_003113		8	45	0	0	0	0.008291	0	8	45		
CAB39	51719	broad.mit.edu	37	2	231683405	231683405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:231683405C>T	ENST00000258418.5	+	9	1441	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*	CAB39_ENST00000409788.3_Nonsense_Mutation_p.Q338*|CAB39_ENST00000410084.3_Nonsense_Mutation_p.Q338*	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	338					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		GAGACCAGCTCAGCAAGAAGC	0.403																																						uc002vqx.2		NaN																	0				central_nervous_system(1)	1						c.(1012-1014)CAG>TAG		calcium binding protein 39							66.0	64.0	64.0					2																	231683405		2203	4300	6503	SO:0001587	stop_gained	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231683405C>T	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.1012C>T	2.37:g.231683405C>T	ENSP00000258418:p.Gln338*					CAB39_uc010fxr.2_Nonsense_Mutation_p.Q338*|CAB39_uc010fxq.2_Nonsense_Mutation_p.Q338*|CAB39_uc002vqy.2_Nonsense_Mutation_p.Q93*	p.Q338*	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	9	1444	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	338					A8K8L7	Nonsense_Mutation	SNP	ENST00000258418.5	37	c.1012C>T	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	C	41	8.699795	0.98920	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	.	.	.	5.57	5.57	0.84162	.	0.051062	0.85682	D	0.000000	.	.	.	.	.	.	0.41050	D	0.985296	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	17.0642	0.86555	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000258418:Q338X	Q	+	1	0	CAB39	231391649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.867000	0.69597	2.622000	0.88805	0.655000	0.94253	CAG		0.403	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2		NM_016289		8	12	0	0	0	0.004482	0	8	12		
UGT1A3	54659	broad.mit.edu	37	2	234637776	234637776	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:234637776G>A	ENST00000482026.1	+	1	23	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.A2T|UGT1A5_ENST00000373414.3_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	2					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		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;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TGCTGAGATGGCCACAGGACT	0.572											OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002vuy.2		NaN																	0				ovary(1)	1						c.(4-6)GCC>ACC		UDP glycosyltransferase 1 family, polypeptide A3							64.0	62.0	63.0					2																	234637776		2203	4300	6503	SO:0001583	missense	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234637776G>A	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.4G>A	2.37:g.234637776G>A	ENSP00000418532:p.Ala2Thr		OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2375	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_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.A2T	p.A2T	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	4	+		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)	2					B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.4G>A	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217463	0.39201	.	.	ENSG00000243135	ENST00000482026	T	0.59906	0.23	4.46	1.54	0.23209	.	.	.	.	.	T	0.42988	0.1227	L	0.35487	1.065	0.21184	N	0.999767	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.28870	-1.0030	9	0.42905	T	0.14	.	7.247	0.26127	0.1583:0.1394:0.7023:0.0	.	2;2	Q5DT01;P35503	.;UD13_HUMAN	T	2	ENSP00000418532:A2T	ENSP00000418532:A2T	A	+	1	0	UGT1A3	234302515	0.615000	0.27026	0.011000	0.14972	0.232000	0.25224	0.488000	0.22371	-0.005000	0.14395	-0.224000	0.12420	GCC		0.572	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1		NM_019093		3	72	0	0	0	0.004672	0	3	72		
ASB18	401036	broad.mit.edu	37	2	237103689	237103689	+	Silent	SNP	C	C	T	rs201896139		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:237103689C>T	ENST00000409749.3	-	6	1226	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Silent_p.P380P	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	409	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542																																						uc010znh.1		NaN																	0				ovary(1)	1						c.(1225-1227)CCG>CCA		ankyrin repeat and SOCS box-containing 18		C		0,4234		0,0,2117	59.0	73.0	68.0		1227	-6.2	0.1	2		68	3,8487		0,3,4242	yes	coding-synonymous	ASB18	NM_212556.2		0,3,6359	TT,TC,CC		0.0353,0.0,0.0236		409/467	237103689	3,12721	2117	4245	6362	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237103689C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1227G>A	2.37:g.237103689C>T							p.P409P	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	6	1227	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	409			SOCS box.		B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.1227G>A	CCDS46548.1																																																																																				0.542	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1		NM_212556		7	24	0	0	0	0.001984	0	7	24		
COL6A3	1293	broad.mit.edu	37	2	238262009	238262009	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:238262009C>G	ENST00000295550.4	-	25	7117	c.6665G>C	c.(6664-6666)gGa>gCa	p.G2222A	COL6A3_ENST00000409809.1_Missense_Mutation_p.G2016A|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1615A|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2021A|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2016A|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2022A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2222	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCCTGCTCTCCCTCAAAGCC	0.507																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6664-6666)GGA>GCA		alpha 3 type VI collagen isoform 1 precursor							69.0	62.0	64.0					2																	238262009		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238262009C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6665G>C	2.37:g.238262009C>G	ENSP00000295550:p.Gly2222Ala					COL6A3_uc002vwo.2_Missense_Mutation_p.G2016A|COL6A3_uc010znj.1_Missense_Mutation_p.G1615A|COL6A3_uc002vwp.1_Missense_Mutation_p.G43A	p.G2222A	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	25	6950	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2222			Triple-helical region.|Collagen-like 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6665G>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986939	0.35036	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	5.21	5.21	0.72293	.	0.000000	0.49305	D	0.000142	D	0.99796	0.9913	H	0.97440	4.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	D	0.96877	0.9643	10	0.87932	D	0	.	16.9555	0.86258	0.0:1.0:0.0:0.0	.	1615;1615;2016;2222	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	A	2222;2021;2016;1615;2016;2022	ENSP00000295550:G2222A;ENSP00000315609:G2021A;ENSP00000315873:G2016A;ENSP00000418285:G1615A;ENSP00000386844:G2016A;ENSP00000295546:G2022A	ENSP00000295550:G2222A	G	-	2	0	COL6A3	237926748	1.000000	0.71417	0.987000	0.45799	0.567000	0.35839	5.391000	0.66266	2.429000	0.82318	0.655000	0.94253	GGA		0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		10	44	0	0	0	0.013537	0	10	44		
KIF1A	547	broad.mit.edu	37	2	241706751	241706751	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:241706751G>C	ENST00000320389.7	-	17	1640	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	KIF1A_ENST00000498729.2_Silent_p.L503L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	494					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCAGGTTGACGAGGTGTGGTG	0.607																																						uc002vzy.2		NaN																	0				lung(1)	1						c.(1480-1482)CTC>CTG		axonal transport of synaptic vesicles							78.0	87.0	84.0					2																	241706751		2178	4295	6473	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241706751G>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1482C>G	2.37:g.241706751G>C						KIF1A_uc010fzk.2_Silent_p.L503L|KIF1A_uc002vzz.1_Silent_p.L503L	p.L494L	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	17	1628	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	494					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.1482C>G	CCDS46561.1																																																																																				0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483		3	19	0	0	0	0.009096	0	3	19		
DZANK1	55184	broad.mit.edu	37	20	18374906	18374906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:18374906G>C	ENST00000358866.6	-	15	1722	c.1700C>G	c.(1699-1701)tCc>tGc	p.S567C	DZANK1_ENST00000357236.4_Missense_Mutation_p.S453C|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000262547.5_Missense_Mutation_p.S567C			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	567							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ACCCCAGCTGGACCTGCTGCC	0.512																																						uc010zsa.1		NaN																	0				ovary(1)	1						c.(1756-1758)TCC>TGC		hypothetical protein LOC55184							31.0	33.0	33.0					20																	18374906		1986	4154	6140	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18374906G>C	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1700C>G	20.37:g.18374906G>C	ENSP00000351734:p.Ser567Cys					C20orf12_uc010zrz.1_Missense_Mutation_p.S105C|C20orf12_uc002wqp.3_Missense_Mutation_p.S277C|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.S453C|C20orf12_uc002wqq.3_Missense_Mutation_p.S567C	p.S586C	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			16	1966	-		Myeloproliferative disorder(85;0.0122)	394					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1757C>G	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.617526|1.617526	0.28801|0.28801	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000358866|ENST00000377630;ENST00000262547;ENST00000414623;ENST00000377637;ENST00000357236	.|T;T;T	.|0.65178	.|0.02;-0.14;-0.02	5.3|5.3	2.05|2.05	0.26809|0.26809	.|.	.|.	.|.	.|.	.|.	T|T	0.66470|0.66470	0.2792|0.2792	M|M	0.64997|0.64997	1.995|1.995	0.29425|0.29425	N|N	0.860272|0.860272	.|D;D;P;B	.|0.64830	.|0.957;0.994;0.861;0.008	.|B;P;B;B	.|0.55999	.|0.371;0.789;0.233;0.008	T|T	0.61232|0.61232	-0.7104|-0.7104	5|9	.|0.72032	.|D	.|0.01	-1.0347|-1.0347	5.1859|5.1859	0.15184|0.15184	0.096:0.0:0.5322:0.3717|0.096:0.0:0.5322:0.3717	.|.	.|586;453;567;352	.|B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.|.;.;DZAN1_HUMAN;.	A|C	366|400;567;399;352;453	.|ENSP00000366857:S400C;ENSP00000262547:S567C;ENSP00000349774:S453C	.|ENSP00000262547:S567C	P|S	-|-	1|2	0|0	C20orf12|C20orf12	18322906|18322906	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.719000|0.719000	0.41307|0.41307	2.139000|2.139000	0.42149|0.42149	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.512	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1		NM_001099407		10	17	0	0	0	0.008291	0	10	17		
SLC32A1	140679	broad.mit.edu	37	20	37357240	37357240	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:37357240C>G	ENST00000217420.1	+	2	1799	c.1536C>G	c.(1534-1536)ctC>ctG	p.L512L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	512					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCACTCCCTCGAGGGCCTCA	0.667																																						uc002xjc.2		NaN																	0					0						c.(1534-1536)CTC>CTG		solute carrier family 32, member 1	Glycine(DB00145)						18.0	17.0	17.0					20																	37357240		2198	4297	6495	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357240C>G	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1536C>G	20.37:g.37357240C>G							p.L512L	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1799	+		Myeloproliferative disorder(115;0.00878)	512			Cytoplasmic (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.1536C>G	CCDS13307.1																																																																																				0.667	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		3	29	0	0	0	0.004672	0	3	29		
DPM1	8813	broad.mit.edu	37	20	49574949	49574949	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr20:49574949C>G	ENST00000371588.5	-	1	138	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	DPM1_ENST00000371582.4_Missense_Mutation_p.E38Q|DPM1_ENST00000466152.1_5'UTR|MOCS3_ENST00000244051.1_5'Flank|DPM1_ENST00000371583.5_Missense_Mutation_p.E38Q	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	38					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGCAGGTTCTCGCGCTCGTTG	0.582																																						uc002xvw.1		NaN																	0				ovary(1)	1						c.(112-114)GAG>CAG		dolichyl-phosphate mannosyltransferase 1							51.0	45.0	47.0					20																	49574949		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49574949C>G	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.112G>C	20.37:g.49574949C>G	ENSP00000360644:p.Glu38Gln					DPM1_uc002xvx.1_RNA|MOCS3_uc002xvy.1_5'Flank	p.E38Q	NM_003859	NP_003850	O60762	DPM1_HUMAN			1	112	-			38					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.112G>C	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.806681|3.806681	0.70682|0.70682	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|T	0.61510|0.57907	0.1;0.1;0.1;0.1|0.37	5.8|5.8	5.8|5.8	0.92144|0.92144	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63462|0.63462	0.2513|0.2513	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999994|0.999994	B|.	0.21381|.	0.055|.	B|.	0.29353|.	0.101|.	T|T	0.59532|0.59532	-0.7437|-0.7437	9|6	.|.	.|.	.|.	-16.8914|-16.8914	15.9799|15.9799	0.80102|0.80102	0.0:0.8652:0.1348:0.0|0.0:0.8652:0.1348:0.0	.|.	38|.	O60762|.	DPM1_HUMAN|.	Q|P	38|37	ENSP00000360644:E38Q;ENSP00000360638:E38Q;ENSP00000360639:E38Q;ENSP00000394921:E38Q|ENSP00000360640:R37P	.|.	E|R	-|-	1|2	0|0	DPM1|DPM1	49008356|49008356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.055000|5.055000	0.64282|0.64282	2.733000|2.733000	0.93635|0.93635	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.582	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1		NM_003859		16	25	0	0	0	0.004007	0	16	25		
RBM11	54033	broad.mit.edu	37	21	15588577	15588577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:15588577G>A	ENST00000400577.3	+	1	79	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGTTCGGGAAGAGATTCTGTA	0.612																																						uc002yjo.3		NaN																	0					0						c.(70-72)GAG>AAG		RNA binding motif protein 11							48.0	53.0	51.0					21																	15588577		1568	3582	5150	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15588577G>A	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.70G>A	21.37:g.15588577G>A	ENSP00000383421:p.Glu24Lys					RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_5'UTR	p.E24K	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	1	112	+			24			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.70G>A	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	36	5.905410	0.97087	.	.	ENSG00000185272	ENST00000400577	T	0.19250	2.16	5.31	5.31	0.75309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000004	T	0.36303	0.0962	L	0.46614	1.455	0.80722	D	1	P	0.48407	0.91	P	0.55391	0.775	T	0.03268	-1.1054	10	0.66056	D	0.02	-13.3756	18.1409	0.89639	0.0:0.0:1.0:0.0	.	24	P57052	RBM11_HUMAN	K	24	ENSP00000383421:E24K	ENSP00000383421:E24K	E	+	1	0	RBM11	14510448	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	7.128000	0.77217	2.653000	0.90120	0.591000	0.81541	GAG		0.612	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1		NM_144770		3	24	0	0	0	0.004672	0	3	24		
TRPM2	7226	broad.mit.edu	37	21	45817728	45817728	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:45817728G>A	ENST00000397928.1	+	13	2476	c.2031G>A	c.(2029-2031)gcG>gcA	p.A677A	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.A677A|TRPM2_ENST00000397932.2_Silent_p.A677A|TRPM2_ENST00000300481.9_Silent_p.A657A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	677					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGATGCTGGCGCTGGCGGAGG	0.642																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2029-2031)GCG>GCA		transient receptor potential cation channel,							74.0	58.0	64.0					21																	45817728		2200	4294	6494	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45817728G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2031G>A	21.37:g.45817728G>A						TRPM2_uc002zeu.1_Silent_p.A677A|TRPM2_uc002zew.1_Silent_p.A677A|TRPM2_uc010gpt.1_Silent_p.A677A|TRPM2_uc002zex.1_Silent_p.A463A|TRPM2_uc002zey.1_Silent_p.A190A	p.A677A	NM_003307	NP_003298	O94759	TRPM2_HUMAN			14	2244	+			677			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2031G>A	CCDS13710.1																																																																																				0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		10	20	0	0	0	0.006214	0	10	20		
LRRC3	81543	broad.mit.edu	37	21	45876666	45876666	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr21:45876666G>A	ENST00000291592.4	+	2	456	c.139G>A	c.(139-141)Gct>Act	p.A47T	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	47	LRRNT.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		AGGGGCTGTGGCTGTCTTCTG	0.667																																						uc002zfa.2		NaN																	0					0						c.(139-141)GCT>ACT		leucine-rich repeat-containing 3 precursor							25.0	28.0	27.0					21																	45876666		2203	4298	6501	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876666G>A	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.139G>A	21.37:g.45876666G>A	ENSP00000291592:p.Ala47Thr						p.A47T	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	432	+		Breast(209;0.00908)	47			LRRNT.		Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.139G>A	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	g	0.203	-1.043064	0.01997	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.96011	-3.88	4.36	2.5	0.30297	Leucine-rich repeat-containing N-terminal (2);	0.144296	0.45126	N	0.000400	D	0.82577	0.5067	N	0.01649	-0.78	0.23113	N	0.99828	B	0.18013	0.025	B	0.20577	0.03	T	0.70270	-0.4918	10	0.02654	T	1	-15.0519	11.1674	0.48552	0.1647:0.0:0.8353:0.0	.	47	Q9BY71	LRRC3_HUMAN	T	47	ENSP00000291592:A47T	ENSP00000291592:A47T	A	+	1	0	LRRC3	44701094	0.980000	0.34600	0.955000	0.39395	0.023000	0.10783	3.160000	0.50739	0.970000	0.38263	-0.215000	0.12644	GCT		0.667	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3				7	34	0	0	0	0.001984	0	7	34		
SPECC1L	23384	broad.mit.edu	37	22	24759250	24759250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:24759250C>A	ENST00000314328.9	+	12	3050	c.2765C>A	c.(2764-2766)tCa>tAa	p.S922*	SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S922*|SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S922*|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	922					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAACATCTTCAGCCAGCCGG	0.413																																						uc002zzw.2		NaN																	0					0						c.(2764-2766)TCA>TAA		cytospin A							106.0	103.0	104.0					22																	24759250		2203	4300	6503	SO:0001587	stop_gained	23384				cell cycle|cell division			g.chr22:24759250C>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2765C>A	22.37:g.24759250C>A	ENSP00000325785:p.Ser922*					CYTSA_uc002zzv.3_Nonsense_Mutation_p.S922*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.S922*	p.S922*	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			12	3072	+			922					B7Z758|F5H1H6|O15081	Nonsense_Mutation	SNP	ENST00000314328.9	37	c.2765C>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	c	41	8.957237	0.99016	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	.	.	.	5.15	5.15	0.70609	.	0.131590	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6405	16.6559	0.85228	0.0:1.0:0.0:0.0	.	.	.	.	X	922	.	ENSP00000325785:S922X	S	+	2	0	SPECC1L	23089250	1.000000	0.71417	0.979000	0.43373	0.911000	0.54048	5.159000	0.64923	2.770000	0.95276	0.650000	0.86243	TCA		0.413	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2		NM_015330		16	16	1	0	1.5739e-10	0.004007	1.69887e-10	16	16		
RFPL1	5988	broad.mit.edu	37	22	29834919	29834919	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:29834919C>G	ENST00000354373.2	+	1	348	c.139C>G	c.(139-141)Cta>Gta	p.L47V	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	47							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTCAGACTATCTAGAGAAACC	0.517																																						uc003afn.2		NaN																	0					0						c.(139-141)CTA>GTA		ret finger protein-like 1							109.0	103.0	105.0					22																	29834919		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29834919C>G	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.139C>G	22.37:g.29834919C>G	ENSP00000346342:p.Leu47Val					RFPL1S_uc003afm.1_RNA	p.L47V	NM_021026	NP_066306	O75677	RFPL1_HUMAN			1	348	+			47			RING-type.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.139C>G	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	12.12	1.843952	0.32606	.	.	ENSG00000128250	ENST00000354373	T	0.20463	2.07	1.52	0.404	0.16355	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.34221	0.0890	M	0.74258	2.255	0.09310	N	1	P	0.50710	0.938	P	0.58780	0.845	T	0.14924	-1.0455	9	0.59425	D	0.04	.	3.1793	0.06579	0.0:0.6939:0.0:0.3061	.	47	O75677	RFPL1_HUMAN	V	47	ENSP00000346342:L47V	ENSP00000346342:L47V	L	+	1	2	RFPL1	28164919	0.758000	0.28405	0.006000	0.13384	0.083000	0.17756	0.501000	0.22578	0.763000	0.33175	0.418000	0.28097	CTA		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1		NM_021026		14	74	0	0	0	0.001855	0	14	74		
RFPL1	5988	broad.mit.edu	37	22	29835036	29835036	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:29835036C>G	ENST00000354373.2	+	1	465	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	86							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CATGGTCTCTCAGAAGAACAA	0.522																																						uc003afn.2		NaN																	0					0						c.(256-258)CAG>GAG		ret finger protein-like 1							141.0	130.0	134.0					22																	29835036		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835036C>G	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.256C>G	22.37:g.29835036C>G	ENSP00000346342:p.Gln86Glu					RFPL1S_uc003afm.1_RNA	p.Q86E	NM_021026	NP_066306	O75677	RFPL1_HUMAN			1	465	+			86					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.256C>G	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	10.24	1.294748	0.23564	.	.	ENSG00000128250	ENST00000354373	T	0.30981	1.51	1.23	1.23	0.21249	Zinc finger, RING/FYVE/PHD-type (1);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.33731	0.0873	L	0.60455	1.87	0.09310	N	1	B	0.31026	0.304	B	0.42959	0.403	T	0.38134	-0.9675	9	0.24483	T	0.36	.	6.348	0.21361	0.0:1.0:0.0:0.0	.	86	O75677	RFPL1_HUMAN	E	86	ENSP00000346342:Q86E	ENSP00000346342:Q86E	Q	+	1	0	RFPL1	28165036	0.003000	0.15002	0.021000	0.16686	0.013000	0.08279	1.359000	0.34113	0.579000	0.29504	0.418000	0.28097	CAG		0.522	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1		NM_021026		9	111	0	0	0	0.010729	0	9	111		
OSBP2	23762	broad.mit.edu	37	22	31289134	31289134	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:31289134C>T	ENST00000332585.6	+	9	1999	c.1895C>T	c.(1894-1896)gCg>gTg	p.A632V	OSBP2_ENST00000446658.2_Missense_Mutation_p.A631V|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000407373.1_Missense_Mutation_p.A459V|OSBP2_ENST00000535268.1_Missense_Mutation_p.A176V|OSBP2_ENST00000437268.2_Missense_Mutation_p.A374V|OSBP2_ENST00000403222.3_Missense_Mutation_p.A466V|OSBP2_ENST00000401475.1_Missense_Mutation_p.A265V|OSBP2_ENST00000382310.3_Missense_Mutation_p.A583V	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	632					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCCTCAGCTGCGCACTACGTG	0.592																																						uc003aiy.1		NaN																	0				breast(1)|skin(1)	2						c.(1894-1896)GCG>GTG		oxysterol binding protein 2 isoform a							38.0	43.0	41.0					22																	31289134		2091	4212	6303	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31289134C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1895C>T	22.37:g.31289134C>T	ENSP00000332576:p.Ala632Val					OSBP2_uc011ala.1_Missense_Mutation_p.A466V|OSBP2_uc010gwc.1_Missense_Mutation_p.A459V|OSBP2_uc011alb.1_Missense_Mutation_p.A583V|OSBP2_uc003aiz.1_Missense_Mutation_p.A631V|OSBP2_uc003aja.1_Missense_Mutation_p.A265V|OSBP2_uc011alc.1_Missense_Mutation_p.A374V|OSBP2_uc003ajb.2_Missense_Mutation_p.A177V|OSBP2_uc011ald.1_Missense_Mutation_p.A176V|OSBP2_uc010gwd.1_Missense_Mutation_p.A177V	p.A632V	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			9	1999	+			632					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1895C>T	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.137610|5.137610	0.94517|0.94517	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656|ENST00000431368	T;T;T;T;T;T;T;T;T|.	0.55234|.	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Oxysterol-binding protein, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82793|0.82793	0.5114|0.5114	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;0.974;1.0;1.0;1.0;1.0;1.0|.	D|D	0.85467|0.85467	0.1170|0.1170	10|5	0.72032|.	D|.	0.01|.	-13.4053|-13.4053	17.6971|17.6971	0.88285|0.88285	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	374;583;466;374;459;631;632|.	F5H2A3;B4DFA8;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2|.	.;.;.;.;.;.;OSBP2_HUMAN|.	V|C	466;459;632;583;631;265;374;176;263|304	ENSP00000384213:A466V;ENSP00000385237:A459V;ENSP00000332576:A632V;ENSP00000371747:A583V;ENSP00000392080:A631V;ENSP00000385254:A265V;ENSP00000389200:A374V;ENSP00000438713:A176V;ENSP00000409838:A263V|.	ENSP00000332576:A632V|.	A|R	+|+	2|1	0|0	OSBP2|OSBP2	29619134|29619134	1.000000|1.000000	0.71417|0.71417	0.650000|0.650000	0.29550|0.29550	0.803000|0.803000	0.45373|0.45373	7.570000|7.570000	0.82390|0.82390	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.592	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2		NM_030758		5	27	0	0	0	0.000602	0	5	27		
GGA1	26088	broad.mit.edu	37	22	38021890	38021890	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:38021890G>A	ENST00000343632.4	+	11	1413	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	GGA1_ENST00000337437.4_Missense_Mutation_p.E310K|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000381756.5_Missense_Mutation_p.E360K|GGA1_ENST00000406772.1_Missense_Mutation_p.E270K	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	343	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCGCCCTGGCGAGCAGGCCAG	0.687																																						uc003atc.2		NaN																	0				breast(2)|ovary(1)	3						c.(1027-1029)GAG>AAG		golgi associated, gamma adaptin ear containing,							63.0	61.0	62.0					22																	38021890		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38021890G>A	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1027G>A	22.37:g.38021890G>A	ENSP00000341344:p.Glu343Lys					GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.E343K|GGA1_uc003atf.2_Missense_Mutation_p.E270K	p.E343K	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN			11	1392	+	Melanoma(58;0.0574)		343			Unstructured hinge.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.1027G>A	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	g	4.491	0.091084	0.08632	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000337437;ENST00000406772	T;T;T;T	0.29397	2.57;2.31;1.57;1.57	4.63	-1.45	0.08828	.	2.362030	0.01385	N	0.013059	T	0.17238	0.0414	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.19224	-1.0312	10	0.10902	T	0.67	-2.9534	9.0863	0.36584	0.5063:0.0:0.4937:0.0	.	360;343	Q6IC75;Q9UJY5	.;GGA1_HUMAN	K	343;360;310;270	ENSP00000341344:E343K;ENSP00000371175:E360K;ENSP00000338647:E310K;ENSP00000385287:E270K	ENSP00000338647:E310K	E	+	1	0	GGA1	36351836	0.000000	0.05858	0.001000	0.08648	0.747000	0.42532	-0.181000	0.09740	-0.071000	0.12886	0.558000	0.71614	GAG		0.687	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3		NM_013365		12	43	0	0	0	0.013537	0	12	43		
CELSR1	9620	broad.mit.edu	37	22	46929664	46929664	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr22:46929664G>C	ENST00000262738.3	-	1	3403	c.3404C>G	c.(3403-3405)tCa>tGa	p.S1135*	CELSR1_ENST00000395964.1_Nonsense_Mutation_p.S1135*|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1135	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGGCTGTCTGACACGTCGGG	0.617																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(3403-3405)TCA>TGA		cadherin EGF LAG seven-pass G-type receptor 1							82.0	80.0	80.0					22																	46929664		2203	4300	6503	SO:0001587	stop_gained	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46929664G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3404C>G	22.37:g.46929664G>C	ENSP00000262738:p.Ser1135*						p.S1135*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3404	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1135			Extracellular (Potential).|Cadherin 9.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Nonsense_Mutation	SNP	ENST00000262738.3	37	c.3404C>G	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.349125|8.349125	0.98772|0.98772	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|.	.|.	.|.	4.53|4.53	3.49|3.49	0.39957|0.39957	.|.	.|0.000000	.|0.64402	.|U	.|0.000013	T|.	0.64283|.	0.2584|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72937|.	-0.4140|.	3|.	.|0.45353	.|T	.|0.12	.|.	12.5192|12.5192	0.56050|0.56050	0.0843:0.0:0.9157:0.0|0.0843:0.0:0.9157:0.0	.|.	.|.	.|.	.|.	E|X	510|1135	.|.	.|ENSP00000262738:S1135X	Q|S	-|-	1|2	0|0	CELSR1|CELSR1	45308328|45308328	1.000000|1.000000	0.71417|0.71417	0.601000|0.601000	0.28877|0.28877	0.336000|0.336000	0.28762|0.28762	5.189000|5.189000	0.65098|0.65098	0.885000|0.885000	0.36088|0.36088	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		6	75	0	0	0	0.001984	0	6	75		
FANCD2OS	115795	broad.mit.edu	37	3	10146259	10146259	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:10146259C>T	ENST00000450660.2	-	2	416	c.200G>A	c.(199-201)gGa>gAa	p.G67E	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.G67E	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	67																	GGGACTCACTCCAGATTCCAG	0.557																																						uc003buz.2		NaN																	0					0						c.(199-201)GGA>GAA		hypothetical protein LOC115795							129.0	126.0	127.0					3																	10146259		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146259C>T	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.200G>A	3.37:g.10146259C>T	ENSP00000429608:p.Gly67Glu					C3orf24_uc003bva.1_Missense_Mutation_p.G67E	p.G67E	NM_173472	NP_775743	Q96PS1	CC024_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.196)	2	425	-			67						Missense_Mutation	SNP	ENST00000450660.2	37	c.200G>A	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800685	0.50315	.	.	ENSG00000163705	ENST00000524279;ENST00000453223;ENST00000450660	.	.	.	5.62	3.79	0.43588	.	0.338611	0.28219	N	0.016149	T	0.23289	0.0563	N	0.12182	0.205	0.20703	N	0.999863	D	0.56968	0.978	P	0.50934	0.654	T	0.04017	-1.0984	9	0.49607	T	0.09	.	8.7978	0.34890	0.0:0.7633:0.154:0.0828	.	67	Q96PS1	CC024_HUMAN	E	67;65;67	.	ENSP00000429608:G67E	G	-	2	0	C3orf24	10121259	0.155000	0.22806	0.471000	0.27229	0.896000	0.52359	1.852000	0.39348	1.357000	0.45904	0.558000	0.71614	GGA		0.557	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2		NM_173472		14	49	0	0	0	0.001855	0	14	49		
ANKRD28	23243	broad.mit.edu	37	3	15726759	15726759	+	Missense_Mutation	SNP	G	G	A	rs369989394		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:15726759G>A	ENST00000399451.2	-	21	2640	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M	ANKRD28_ENST00000383777.1_Missense_Mutation_p.T791M|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	758						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTGAAGTGCCGTATATCCATG	0.423																																						uc003caj.1		NaN																	0				breast(1)	1						c.(2272-2274)ACG>ATG		ankyrin repeat domain 28		G	MET/THR,MET/THR,MET/THR	1,3971		0,1,1985	169.0	159.0	162.0		1811,1811,2273	5.8	1.0	3		162	0,8346		0,0,4173	no	missense,missense,missense	ANKRD28	NM_001195098.1,NM_001195099.1,NM_015199.3	81,81,81	0,1,6158	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging,probably-damaging,probably-damaging	604/900,604/900,758/1054	15726759	1,12317	1986	4173	6159	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15726759G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2273C>T	3.37:g.15726759G>A	ENSP00000382379:p.Thr758Met					ANKRD28_uc003cai.1_Missense_Mutation_p.T604M|ANKRD28_uc011avz.1_Missense_Mutation_p.T604M|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.T788M|ANKRD28_uc003cam.2_Missense_Mutation_p.T791M	p.T758M	NM_015199	NP_056014	O15084	ANR28_HUMAN			21	2416	-			758			ANK 22.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2273C>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672283	0.88348	2.52E-4	0.0	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.75154	-0.91;-0.91;-0.91	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91452	0.7302	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.75020	0.931;0.975;0.985	D	0.93657	0.6978	10	0.87932	D	0	.	20.0007	0.97408	0.0:0.0:1.0:0.0	.	791;788;758	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	M	758;791;758	ENSP00000382379:T758M;ENSP00000373287:T791M;ENSP00000397341:T758M	ENSP00000373287:T791M	T	-	2	0	ANKRD28	15701763	1.000000	0.71417	0.983000	0.44433	0.856000	0.48823	9.869000	0.99810	2.726000	0.93360	0.650000	0.86243	ACG		0.423	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1		NM_015199		4	162	0	0	0	0.009096	0	4	162		
TRANK1	9881	broad.mit.edu	37	3	36874249	36874249	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:36874249C>G	ENST00000429976.2	-	21	6940	c.6693G>C	c.(6691-6693)aaG>aaC	p.K2231N	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1681N|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1681N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2231							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATGGAAATGCTTAGGGAAAA	0.378																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5041-5043)AAG>AAC		lupus brain antigen 1							95.0	92.0	93.0					3																	36874249		1855	4098	5953	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874249C>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6693G>C	3.37:g.36874249C>G	ENSP00000416168:p.Lys2231Asn						p.K1681N	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	5345	-			2231					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5043G>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062795	0.08388	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32023	1.47;1.88;1.47	5.03	0.121	0.14695	.	0.499841	0.18349	N	0.143940	T	0.15046	0.0363	N	0.17082	0.46	0.22446	N	0.999099	B	0.13594	0.008	B	0.12837	0.008	T	0.19224	-1.0312	10	0.28530	T	0.3	.	6.1504	0.20308	0.134:0.3523:0.0:0.5137	.	2231	O15050	TRNK1_HUMAN	N	1681;2231;1681	ENSP00000416826:K1681N;ENSP00000416168:K2231N;ENSP00000301807:K1681N	ENSP00000301807:K1681N	K	-	3	2	TRANK1	36849253	0.939000	0.31865	0.983000	0.44433	0.800000	0.45204	-0.005000	0.12855	-0.210000	0.10140	-0.448000	0.05591	AAG		0.378	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		32	57	0	0	0	0.012213	0	32	57		
SETD2	29072	broad.mit.edu	37	3	47162371	47162371	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:47162371G>A	ENST00000409792.3	-	3	3797	c.3755C>T	c.(3754-3756)tCa>tTa	p.S1252L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1252					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGCTCTTCTGATGAGTGCAA	0.453			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(3754-3756)TCA>TTA		SET domain containing 2							106.0	106.0	106.0					3																	47162371		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162371G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3755C>T	3.37:g.47162371G>A	ENSP00000386759:p.Ser1252Leu					SETD2_uc003cqv.2_Missense_Mutation_p.S1241L	p.S1252L	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3808	-		Acute lymphoblastic leukemia(5;0.0169)	1252					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3755C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933109	0.34096	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88509	-2.39;1.48	5.28	5.28	0.74379	.	0.606642	0.14610	N	0.309115	T	0.81158	0.4764	N	0.14661	0.345	0.25374	N	0.98867	B;B	0.26318	0.146;0.146	B;B	0.22152	0.038;0.026	T	0.73994	-0.3807	10	0.66056	D	0.02	.	14.4002	0.67037	0.0728:0.0:0.9272:0.0	.	1252;1252	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1252;1252;1252;1208	ENSP00000386759:S1252L;ENSP00000416401:S1208L	ENSP00000386759:S1252L	S	-	2	0	SETD2	47137375	0.639000	0.27234	1.000000	0.80357	0.978000	0.69477	2.683000	0.46943	2.756000	0.94617	0.655000	0.94253	TCA		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		11	86	0	0	0	0.008291	0	11	86		
PTPN23	25930	broad.mit.edu	37	3	47447452	47447452	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:47447452C>T	ENST00000265562.4	+	6	539	c.462C>T	c.(460-462)ttC>ttT	p.F154F	PTPN23_ENST00000431726.1_Silent_p.F28F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	154	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGGCGCCTTCGCCTACCTAC	0.612																																						uc003crf.1		NaN																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(460-462)TTC>TTT		protein tyrosine phosphatase, non-receptor type							53.0	47.0	49.0					3																	47447452		2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47447452C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.462C>T	3.37:g.47447452C>T						PTPN23_uc011baw.1_Silent_p.F119F|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.F24F	p.F154F	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	6	558	+			154			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.462C>T	CCDS2754.1																																																																																				0.612	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2		NM_015466		7	22	0	0	0	0.001984	0	7	22		
CELSR3	1951	broad.mit.edu	37	3	48698212	48698212	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:48698212C>T	ENST00000164024.4	-	1	2136	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.R619H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	619	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCTGATGCGCAAGGCATA	0.587																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1855-1857)CGC>CAC		cadherin EGF LAG seven-pass G-type receptor 3							51.0	47.0	48.0					3																	48698212		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698212C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1856G>A	3.37:g.48698212C>T	ENSP00000164024:p.Arg619His					CELSR3_uc003cuf.1_Missense_Mutation_p.R689H	p.R619H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2137	-			619			Extracellular (Potential).|Cadherin 3.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1856G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966999	0.53507	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01767	4.65;4.65	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06234	0.0161	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.59495	-0.7444	9	0.27785	T	0.31	.	19.8673	0.96808	0.0:1.0:0.0:0.0	.	619;689	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	619	ENSP00000164024:R619H;ENSP00000445694:R619H	ENSP00000164024:R619H	R	-	2	0	CELSR3	48673216	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.872000	0.69636	2.698000	0.92095	0.655000	0.94253	CGC		0.587	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		6	25	0	0	0	0.001168	0	6	25		
STAB1	23166	broad.mit.edu	37	3	52554987	52554987	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:52554987C>A	ENST00000321725.6	+	55	5950	c.5874C>A	c.(5872-5874)agC>agA	p.S1958R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1958					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGAAGCCCAGCTGCTGCCCTG	0.617																																						uc003dej.2		NaN																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(5872-5874)AGC>AGA		stabilin 1 precursor							24.0	28.0	26.0					3																	52554987		2200	4296	6496	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52554987C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5874C>A	3.37:g.52554987C>A	ENSP00000312946:p.Ser1958Arg					STAB1_uc003dek.1_Translation_Start_Site|STAB1_uc003del.2_5'Flank	p.S1958R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	55	5948	+			1958			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.5874C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738040	0.30774	.	.	ENSG00000010327	ENST00000321725	D	0.84800	-1.9	5.79	0.909	0.19332	.	0.419913	0.29126	N	0.013069	T	0.65322	0.2680	L	0.31526	0.94	0.36401	D	0.863128	B	0.33413	0.411	B	0.24701	0.055	T	0.56505	-0.7968	10	0.13108	T	0.6	.	1.2662	0.02011	0.2346:0.3649:0.2334:0.1671	.	1958	Q9NY15	STAB1_HUMAN	R	1958	ENSP00000312946:S1958R	ENSP00000312946:S1958R	S	+	3	2	STAB1	52530027	0.940000	0.31905	1.000000	0.80357	0.964000	0.63967	1.441000	0.35035	0.762000	0.33152	0.655000	0.94253	AGC		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		NM_015136		12	17	1	0	3.07112e-06	0.010729	3.25838e-06	12	17		
MYH15	22989	broad.mit.edu	37	3	108179195	108179195	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:108179195C>G	ENST00000273353.3	-	18	2000	c.1944G>C	c.(1942-1944)aaG>aaC	p.K648N	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	648	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTTTCGTTTCTTCTCCCCAA	0.328																																						uc003dxa.1		NaN																	0				ovary(5)|central_nervous_system(2)	7						c.(1942-1944)AAG>AAC		myosin, heavy polypeptide 15							54.0	52.0	52.0					3																	108179195		1818	4066	5884	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108179195C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1944G>C	3.37:g.108179195C>G	ENSP00000273353:p.Lys648Asn						p.K648N	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			18	2001	-			648			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1944G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886602	0.17540	.	.	ENSG00000144821	ENST00000273353	D	0.87809	-2.3	4.39	0.532	0.17114	Myosin head, motor domain (2);	.	.	.	.	D	0.83133	0.5188	M	0.65320	2	0.30484	N	0.772073	B	0.19583	0.037	B	0.22152	0.038	T	0.76669	-0.2874	9	0.66056	D	0.02	.	6.6007	0.22699	0.1267:0.661:0.0:0.2123	.	648	Q9Y2K3	MYH15_HUMAN	N	648	ENSP00000273353:K648N	ENSP00000273353:K648N	K	-	3	2	MYH15	109661885	0.994000	0.37717	0.003000	0.11579	0.400000	0.30750	0.591000	0.23969	0.072000	0.16694	0.561000	0.74099	AAG		0.328	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988		3	15	0	0	0	0.004672	0	3	15		
POLQ	10721	broad.mit.edu	37	3	121208086	121208086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:121208086G>C	ENST00000264233.5	-	16	3820	c.3692C>G	c.(3691-3693)tCa>tGa	p.S1231*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1231					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTAACATTTGAGTCTCTATT	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3691-3693)TCA>TGA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							180.0	187.0	185.0					3																	121208086		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208086G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3692C>G	3.37:g.121208086G>C	ENSP00000264233:p.Ser1231*					POLQ_uc003eed.2_Nonsense_Mutation_p.S403*	p.S1231*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3821	-			1231					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.3692C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	39	7.872995	0.98537	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.45	2.49	0.30216	.	0.722774	0.13279	N	0.399875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.5017	0.07676	0.2869:0.0:0.5237:0.1895	.	.	.	.	X	854;1231;1367	.	ENSP00000264233:S1231X	S	-	2	0	POLQ	122690776	0.000000	0.05858	0.057000	0.19452	0.659000	0.38960	0.091000	0.15046	0.869000	0.35703	-0.244000	0.11960	TCA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		33	134	0	0	0	0.012213	0	33	134		
KALRN	8997	broad.mit.edu	37	3	124066028	124066028	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:124066028C>A	ENST00000240874.3	+	10	1837	c.1680C>A	c.(1678-1680)ctC>ctA	p.L560L	KALRN_ENST00000460856.1_Silent_p.L560L|KALRN_ENST00000360013.3_Silent_p.L560L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	560					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGCCTTTCTCAGCAAACACA	0.493																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1678-1680)CTC>CTA		kalirin, RhoGEF kinase isoform 1							215.0	197.0	203.0					3																	124066028		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124066028C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1680C>A	3.37:g.124066028C>A						KALRN_uc010hrv.1_Silent_p.L560L|KALRN_uc003ehf.1_Silent_p.L560L|KALRN_uc011bjy.1_Silent_p.L560L	p.L560L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			10	1807	+			560			Spectrin 3.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1680C>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	9.359	1.067631	0.20067	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.31	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.483	0.22073	0.0:0.3566:0.4122:0.2313	.	.	.	.	X	538	.	.	S	+	2	0	KALRN	125548718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.993000	0.29680	0.386000	0.24997	-0.137000	0.14449	TCA		0.493	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		36	141	1	0	6.2361e-21	0.007835	6.81584e-21	36	141		
KALRN	8997	broad.mit.edu	37	3	124174160	124174160	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:124174160G>C	ENST00000240874.3	+	22	3840	c.3683G>C	c.(3682-3684)gGa>gCa	p.G1228A	KALRN_ENST00000460856.1_Missense_Mutation_p.G1219A|KALRN_ENST00000360013.3_Missense_Mutation_p.G1228A	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1228					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGAGGATGGGAAAGTACCGA	0.522																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(3682-3684)GGA>GCA		kalirin, RhoGEF kinase isoform 1							127.0	118.0	121.0					3																	124174160		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124174160G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3683G>C	3.37:g.124174160G>C	ENSP00000240874:p.Gly1228Ala					KALRN_uc010hrv.1_Missense_Mutation_p.G1219A|KALRN_uc003ehf.1_Missense_Mutation_p.G1228A|KALRN_uc011bjy.1_Missense_Mutation_p.G1219A|KALRN_uc003ehh.1_Missense_Mutation_p.G574A	p.G1228A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			22	3810	+			1228					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.3683G>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.34|12.34	1.908430|1.908430	0.33721|0.33721	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.40225	.|1.04;1.04;1.04	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.206064	.|0.41396	.|D	.|0.000889	T|T	0.31389|0.31389	0.0795|0.0795	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.12013	.|0.001;0.005;0.001;0.001	.|B;B;B;B	.|0.17979	.|0.02;0.013;0.002;0.012	T|T	0.07770|0.07770	-1.0755|-1.0755	5|10	.|0.17369	.|T	.|0.5	.|.	18.2062|18.2062	0.89855|0.89855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1219;574;1228;1228	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	Q|A	1197|1219;1228;1228	.|ENSP00000418611:G1219A;ENSP00000240874:G1228A;ENSP00000353109:G1228A	.|ENSP00000240874:G1228A	E|G	+|+	1|2	0|0	KALRN|KALRN	125656850|125656850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.973000|2.973000	0.49264|0.49264	2.535000|2.535000	0.85469|0.85469	0.573000|0.573000	0.79308|0.79308	GAA|GGA		0.522	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		12	79	0	0	0	0.013537	0	12	79		
PPP2R3A	5523	broad.mit.edu	37	3	135721778	135721778	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:135721778C>G	ENST00000264977.3	+	2	2055	c.1438C>G	c.(1438-1440)Cta>Gta	p.L480V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	480					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTTGTTAATCTACCTAAGGA	0.338																																						uc003eqv.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1438-1440)CTA>GTA		protein phosphatase 2, regulatory subunit B'',							55.0	60.0	58.0					3																	135721778		2172	4289	6461	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721778C>G	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1438C>G	3.37:g.135721778C>G	ENSP00000264977:p.Leu480Val					PPP2R3A_uc011blz.1_Intron	p.L480V	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	2003	+			480					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1438C>G	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	2.689	-0.273520	0.05679	.	.	ENSG00000073711	ENST00000264977	T	0.05717	3.4	5.42	1.32	0.21799	.	1.001000	0.08060	N	0.997994	T	0.03095	0.0091	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.42068	-0.9473	10	0.48119	T	0.1	.	4.3696	0.11241	0.0:0.417:0.3506:0.2323	.	480	Q06190	P2R3A_HUMAN	V	480	ENSP00000264977:L480V	ENSP00000264977:L480V	L	+	1	2	PPP2R3A	137204468	0.020000	0.18652	0.109000	0.21407	0.885000	0.51271	1.116000	0.31221	0.743000	0.32719	0.655000	0.94253	CTA		0.338	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718		11	58	0	0	0	0.008291	0	11	58		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				16	67	0	0	0	0.003163	0	16	67		
FXR1	8087	broad.mit.edu	37	3	180693957	180693957	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:180693957C>T	ENST00000357559.4	+	17	2127	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N	FXR1_ENST00000445140.2_3'UTR|FXR1_ENST00000480918.1_Silent_p.N568N|FXR1_ENST00000468861.1_3'UTR|FXR1_ENST00000491062.1_3'UTR|FXR1_ENST00000305586.7_Silent_p.N496N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	581					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGGCAATAAACGGCCCAACTA	0.393																																						uc003fkq.2		NaN																	0				breast(1)	1						c.(1741-1743)AAC>AAT		fragile X mental retardation-related protein 1							81.0	76.0	77.0					3																	180693957		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180693957C>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1743C>T	3.37:g.180693957C>T						FXR1_uc003fkp.2_Silent_p.N496N|FXR1_uc003fkr.2_3'UTR|FXR1_uc011bqj.1_3'UTR|FXR1_uc003fks.2_Silent_p.N524N|FXR1_uc011bqk.1_3'UTR|FXR1_uc011bql.1_Silent_p.N568N	p.N581N	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		17	1765	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		581					A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.1743C>T	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	2.311	-0.357861	0.05138	.	.	ENSG00000114416	ENST00000482125	.	.	.	5.17	0.246	0.15516	.	.	.	.	.	T	0.55893	0.1949	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50575	-0.8812	4	.	.	.	-48.1534	9.3769	0.38288	0.0:0.2815:0.0:0.7185	.	.	.	.	M	209	.	.	T	+	2	0	FXR1	182176651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.974000	0.29436	0.314000	0.23086	-0.342000	0.07992	ACG		0.393	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5				18	44	0	0	0	0.00499	0	18	44		
MAP3K13	9175	broad.mit.edu	37	3	185191526	185191526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:185191526C>T	ENST00000265026.3	+	11	2741	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*	MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R659*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R596*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R659*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R803*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCGCTACCTCGAAAAACAAG	0.507																																						uc010hyf.2		NaN																	0				ovary(2)|skin(1)	3						c.(2407-2409)CGA>TGA		mitogen-activated protein kinase kinase kinase							81.0	86.0	84.0					3																	185191526		2198	4288	6486	SO:0001587	stop_gained	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185191526C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2407C>T	3.37:g.185191526C>T	ENSP00000265026:p.Arg803*					MAP3K13_uc011brt.1_Nonsense_Mutation_p.R596*|MAP3K13_uc011bru.1_Nonsense_Mutation_p.R659*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.R803*|MAP3K13_uc010hyg.2_Nonsense_Mutation_p.R493*	p.R803*	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		12	2673	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		803						Nonsense_Mutation	SNP	ENST00000265026.3	37	c.2407C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	38	6.740280	0.97805	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	.	.	.	5.98	5.98	0.97165	.	0.135861	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	11.3645	0.49664	0.0:0.8915:0.0:0.1085	.	.	.	.	X	596;803;659;659;803	.	ENSP00000265026:R803X	R	+	1	2	MAP3K13	186674220	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.644000	0.54381	2.834000	0.97654	0.655000	0.94253	CGA		0.507	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		11	213	0	0	0	0.001855	0	11	213		
PPP2R2C	5522	broad.mit.edu	37	4	6335373	6335373	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:6335373G>A	ENST00000382599.4	-	7	1092	c.876C>T	c.(874-876)agC>agT	p.S292S	PPP2R2C_ENST00000515571.1_Silent_p.S275S|PPP2R2C_ENST00000506140.1_Silent_p.S285S|PPP2R2C_ENST00000507294.1_Silent_p.S285S|PPP2R2C_ENST00000335585.5_Silent_p.S292S			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	292					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGTAGCGGCCGCTGTGGCTGA	0.562											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gjc.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(874-876)AGC>AGT		gamma isoform of regulatory subunit B55, protein							111.0	107.0	108.0					4																	6335373		2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6335373G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.876C>T	4.37:g.6335373G>A			OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	PPP2R2C_uc003gjb.2_Silent_p.S275S|PPP2R2C_uc011bwd.1_Silent_p.S285S|PPP2R2C_uc011bwe.1_Silent_p.S285S|PPP2R2C_uc003gja.2_Silent_p.S292S|PPP2R2C_uc003gjd.1_Silent_p.S380S	p.S292S	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			7	1246	-			292			WD 5.		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.876C>T																																																																																					0.562	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2		NM_181876		19	82	0	0	0	0.008871	0	19	82		
PGM2	55276	broad.mit.edu	37	4	37848724	37848724	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:37848724C>T	ENST00000381967.4	+	9	1280	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y	PGM2_ENST00000544359.1_Missense_Mutation_p.H255Y|PGM2_ENST00000537241.1_Missense_Mutation_p.H234Y	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	394					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GGAAGGTTTTCATTTTGAGGT	0.448																																						uc011byb.1		NaN																	0				ovary(1)	1						c.(1180-1182)CAT>TAT		phosphoglucomutase 2							113.0	114.0	114.0					4																	37848724		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848724C>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1180C>T	4.37:g.37848724C>T	ENSP00000371393:p.His394Tyr					PGM2_uc011bya.1_Missense_Mutation_p.H255Y|PGM2_uc011byc.1_Missense_Mutation_p.H234Y	p.H394Y	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			9	1253	+			394					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1180C>T	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	6.950	0.545206	0.13312	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.42131	0.98;0.98;0.98	5.68	5.68	0.88126	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	M	0.74881	2.28	0.80722	D	1	B;B	0.32302	0.066;0.363	B;B	0.35353	0.087;0.201	T	0.53669	-0.8406	10	0.59425	D	0.04	-12.8208	19.8043	0.96521	0.0:1.0:0.0:0.0	.	394;255	Q96G03;B4E0G8	PGM2_HUMAN;.	Y	394;255;234	ENSP00000371393:H394Y;ENSP00000438025:H255Y;ENSP00000437342:H234Y	ENSP00000371393:H394Y	H	+	1	0	PGM2	37525119	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.747000	0.85070	2.683000	0.91414	0.655000	0.94253	CAT		0.448	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2		NM_018290		28	79	0	0	0	0.007291	0	28	79		
TBC1D1	23216	broad.mit.edu	37	4	38022296	38022296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:38022296C>T	ENST00000261439.4	+	5	1412	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.Q353*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	353	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTACGTGTTTCAGTGCACAAA	0.478																																						uc003gtb.2		NaN																	0				ovary(1)	1						c.(1057-1059)CAG>TAG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							213.0	197.0	202.0					4																	38022296		2203	4300	6503	SO:0001587	stop_gained	23216					nucleus	Rab GTPase activator activity	g.chr4:38022296C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1057C>T	4.37:g.38022296C>T	ENSP00000261439:p.Gln353*					TBC1D1_uc011byd.1_Nonsense_Mutation_p.Q353*|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Nonsense_Mutation_p.Q224*	p.Q353*	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			5	1400	+			353			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Nonsense_Mutation	SNP	ENST00000261439.4	37	c.1057C>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	43	10.254372	0.99369	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	.	.	.	5.58	5.58	0.84498	.	0.000000	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-27.2036	19.5641	0.95386	0.0:1.0:0.0:0.0	.	.	.	.	X	353;353;224	.	ENSP00000261439:Q353X	Q	+	1	0	TBC1D1	37698691	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.723000	0.84788	2.619000	0.88677	0.591000	0.81541	CAG		0.478	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173		36	130	0	0	0	0.003755	0	36	130		
KLB	152831	broad.mit.edu	37	4	39448977	39448977	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:39448977G>C	ENST00000257408.4	+	4	2728	c.2631G>C	c.(2629-2631)cgG>cgC	p.R877R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	877	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGTGGGTCCGGAGGAACTACG	0.622																																						uc003gua.2		NaN																	0				skin(1)	1						c.(2629-2631)CGG>CGC		klotho beta							66.0	72.0	70.0					4																	39448977		2203	4299	6502	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448977G>C	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2631G>C	4.37:g.39448977G>C						KLB_uc011byj.1_Silent_p.R868R	p.R877R	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	2728	+			877			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.2631G>C	CCDS3451.1																																																																																				0.622	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1		NM_175737		20	73	0	0	0	0.008871	0	20	73		
GUF1	60558	broad.mit.edu	37	4	44680684	44680684	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:44680684C>T	ENST00000281543.5	+	1	239	c.45C>T	c.(43-45)ctC>ctT	p.L15L	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CACGCGCTCTCGCGCCACGAG	0.736																																						uc003gww.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(43-45)CTC>CTT		GUF1 GTPase homolog							4.0	6.0	5.0					4																	44680684		1961	3965	5926	SO:0001819	synonymous_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44680684C>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.45C>T	4.37:g.44680684C>T						GUF1_uc010ifz.1_RNA	p.L15L	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			1	252	+			15						Silent	SNP	ENST00000281543.5	37	c.45C>T	CCDS3468.1																																																																																				0.736	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3		NM_021927		3	9	0	0	0	0.004672	0	3	9		
SCFD2	152579	broad.mit.edu	37	4	53751964	53751964	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:53751964C>T	ENST00000401642.3	-	8	2045	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	SCFD2_ENST00000388940.4_Missense_Mutation_p.E593K	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	638					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATTTTCACTTCAGAGACTGTG	0.498																																						uc003gzu.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1912-1914)GAA>AAA		sec1 family domain containing 2							101.0	92.0	95.0					4																	53751964		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53751964C>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1912G>A	4.37:g.53751964C>T	ENSP00000384182:p.Glu638Lys					SCFD2_uc010igm.2_Missense_Mutation_p.E593K	p.E638K	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		8	2046	-			638					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1912G>A	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140064	0.77775	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	D;D	0.99129	-5.46;-5.46	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.99143	0.9704	M	0.69823	2.125	0.53688	D	0.999976	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.99834	1.1056	10	0.87932	D	0	.	17.4297	0.87536	0.0:1.0:0.0:0.0	.	593;638	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	K	638;593	ENSP00000384182:E638K;ENSP00000373592:E593K	ENSP00000373592:E593K	E	-	1	0	SCFD2	53446721	0.999000	0.42202	0.987000	0.45799	0.559000	0.35586	5.410000	0.66381	2.373000	0.80994	0.561000	0.74099	GAA		0.498	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3		NM_152540		15	42	0	0	0	0.003163	0	15	42		
SMR3A	26952	broad.mit.edu	37	4	71232491	71232491	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:71232491G>C	ENST00000226460.4	+	3	281	c.185G>C	c.(184-186)aGa>aCa	p.R62T		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	62	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGATTTCCACCA	0.547																																						uc003hfg.1		NaN																	0					0						c.(184-186)AGA>ACA		submaxillary gland androgen regulated protein 3							153.0	142.0	146.0					4																	71232491		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232491G>C	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.185G>C	4.37:g.71232491G>C	ENSP00000226460:p.Arg62Thr					SMR3B_uc011cas.1_Intron	p.R62T	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	266	+		all_hematologic(202;0.196)	62			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.185G>C	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	G	4.677	0.125846	0.08931	.	.	ENSG00000109208	ENST00000226460	T	0.29917	1.55	2.18	2.18	0.27775	.	.	.	.	.	T	0.33498	0.0865	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.59288	0.855	T	0.07654	-1.0761	9	0.54805	T	0.06	.	7.9158	0.29816	0.0:0.0:1.0:0.0	.	62	Q99954	SMR3A_HUMAN	T	62	ENSP00000226460:R62T	ENSP00000226460:R62T	R	+	2	0	SMR3A	71267080	0.000000	0.05858	0.014000	0.15608	0.056000	0.15407	-0.651000	0.05372	1.540000	0.49301	0.491000	0.48974	AGA		0.547	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1		NM_012390		5	97	0	0	0	0.000602	0	5	97		
ADAMTS3	9508	broad.mit.edu	37	4	73169687	73169687	+	Missense_Mutation	SNP	C	C	T	rs576499751		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:73169687C>T	ENST00000286657.4	-	17	2407	c.2371G>A	c.(2371-2373)Gac>Aac	p.D791N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	791	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTTCAATGTCATCTTCAATG	0.423																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NaN																	0				ovary(1)|lung(1)	2						c.(2371-2373)GAC>AAC		ADAM metallopeptidase with thrombospondin type 1							214.0	202.0	206.0					4																	73169687		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169687C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2371G>A	4.37:g.73169687C>T	ENSP00000286657:p.Asp791Asn					ADAMTS3_uc003hgl.2_Missense_Mutation_p.D132N	p.D791N	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2408	-			791			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2371G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352900	0.41700	.	.	ENSG00000156140	ENST00000286657	T	0.52295	0.67	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.188585	0.43110	D	0.000615	T	0.48519	0.1504	N	0.25890	0.77	0.45129	D	0.998142	P	0.48294	0.908	P	0.57960	0.83	T	0.23655	-1.0182	10	0.11182	T	0.66	.	14.719	0.69291	0.0:0.9287:0.0:0.0713	.	791	O15072	ATS3_HUMAN	N	791	ENSP00000286657:D791N	ENSP00000286657:D791N	D	-	1	0	ADAMTS3	73388551	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	2.656000	0.46716	2.619000	0.88677	0.650000	0.86243	GAC		0.423	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2				21	97	0	0	0	0.008871	0	21	97		
C4orf22	255119	broad.mit.edu	37	4	81283911	81283911	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:81283911G>A	ENST00000358105.3	+	2	164	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.E39K	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	39										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TCTCTAGGATGAAACCCTGGC	0.433																																						uc003hmf.2		NaN																	0				skin(2)	2						c.(115-117)GAA>AAA		hypothetical protein LOC255119							112.0	123.0	119.0					4																	81283911		2203	4300	6503	SO:0001583	missense	255119							g.chr4:81283911G>A	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.115G>A	4.37:g.81283911G>A	ENSP00000350818:p.Glu39Lys					C4orf22_uc010ijp.2_Missense_Mutation_p.E39K	p.E39K	NM_152770	NP_689983	Q6V702	CD022_HUMAN			2	164	+			39					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.115G>A	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693051	0.30052	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30714	1.52;1.52	5.21	5.21	0.72293	.	0.236579	0.34362	N	0.004023	T	0.29783	0.0744	L	0.55103	1.725	0.37489	D	0.91631	B;B	0.31125	0.309;0.036	B;B	0.24848	0.056;0.049	T	0.15809	-1.0424	10	0.20519	T	0.43	.	17.8843	0.88849	0.0:0.0:1.0:0.0	.	39;39	E7EQ13;Q6V702	.;CD022_HUMAN	K	39	ENSP00000350818:E39K;ENSP00000425786:E39K	ENSP00000350818:E39K	E	+	1	0	C4orf22	81502935	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.788000	0.62439	2.588000	0.87417	0.585000	0.79938	GAA		0.433	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2		NM_152770		24	110	0	0	0	0.004656	0	24	110		
ANK2	287	broad.mit.edu	37	4	114275389	114275389	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:114275389C>T	ENST00000357077.4	+	38	5668	c.5615C>T	c.(5614-5616)tCg>tTg	p.S1872L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1839L|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1872	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCGTCATCATCGAGTAAAACT	0.453																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5614-5616)TCG>TTG		ankyrin 2 isoform 1							212.0	195.0	201.0					4																	114275389		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275389C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5615C>T	4.37:g.114275389C>T	ENSP00000349588:p.Ser1872Leu					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1887L	p.S1872L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5715	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1839			Repeat A.|Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5615C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318579	0.40996	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67345	-0.26;-0.26	5.85	5.85	0.93711	.	0.164098	0.28921	N	0.013710	T	0.59838	0.2223	L	0.48642	1.525	0.80722	D	1	P;P	0.45240	0.772;0.854	B;B	0.38921	0.148;0.285	T	0.60444	-0.7262	9	.	.	.	.	15.6709	0.77274	0.0:1.0:0.0:0.0	.	1839;1872	Q01484;Q01484-4	ANK2_HUMAN;.	L	1872;1839	ENSP00000349588:S1872L;ENSP00000264366:S1839L	.	S	+	2	0	ANK2	114494838	0.887000	0.30362	0.016000	0.15963	0.295000	0.27426	0.878000	0.28126	2.761000	0.94854	0.655000	0.94253	TCG		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		34	107	0	0	0	0.003271	0	34	107		
GUCY1A3	2982	broad.mit.edu	37	4	156634390	156634390	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr4:156634390G>A	ENST00000296518.7	+	7	1436	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	GUCY1A3_ENST00000511507.1_Silent_p.L409L|GUCY1A3_ENST00000455639.2_Silent_p.L409L|GUCY1A3_ENST00000506455.1_Silent_p.L409L|GUCY1A3_ENST00000513574.1_Silent_p.L409L|GUCY1A3_ENST00000511108.1_Silent_p.L409L|GUCY1A3_ENST00000393832.3_Silent_p.L151L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	409					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACAATGCACTGAGGGATGTGG	0.522																																						uc003iov.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1225-1227)CTG>CTA		guanylate cyclase 1, soluble, alpha 3 isoform A							93.0	91.0	92.0					4																	156634390		2203	4300	6503	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634390G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1227G>A	4.37:g.156634390G>A						GUCY1A3_uc010iqc.2_Silent_p.L409L|GUCY1A3_uc003iow.2_Silent_p.L409L|GUCY1A3_uc010iqd.2_Silent_p.L408L|GUCY1A3_uc003iox.2_Silent_p.L409L|GUCY1A3_uc003ioz.2_Silent_p.L174L|GUCY1A3_uc003ioy.2_Silent_p.L409L|GUCY1A3_uc010iqe.2_Silent_p.L174L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.L409L	p.L409L	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	1763	+	all_hematologic(180;0.24)	Renal(120;0.0854)	409					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.1227G>A	CCDS34085.1																																																																																				0.522	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2				12	29	0	0	0	0.010729	0	12	29		
ADCY2	108	broad.mit.edu	37	5	7743786	7743786	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:7743786C>T	ENST00000338316.4	+	15	1966	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	ADCY2_ENST00000537121.1_Missense_Mutation_p.S446F|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	626					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTAGAACGTCCGTCCTGGGC	0.493																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1876-1878)TCC>TTC		adenylate cyclase 2							351.0	314.0	327.0					5																	7743786		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7743786C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1877C>T	5.37:g.7743786C>T	ENSP00000342952:p.Ser626Phe					ADCY2_uc011cmo.1_Missense_Mutation_p.S446F	p.S626F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			15	1944	+			626					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1877C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	4.143	0.024840	0.08054	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81078	-0.96;-1.45	5.38	5.38	0.77491	.	0.465272	0.25456	N	0.030560	T	0.79173	0.4401	L	0.44542	1.39	0.09310	N	0.999999	P;B	0.44429	0.835;0.006	P;B	0.46362	0.514;0.004	T	0.71699	-0.4514	10	0.32370	T	0.25	.	16.4133	0.83726	0.0:1.0:0.0:0.0	.	446;626	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	626;459;446	ENSP00000342952:S626F;ENSP00000444803:S446F	ENSP00000342952:S626F	S	+	2	0	ADCY2	7796786	0.050000	0.20438	0.016000	0.15963	0.004000	0.04260	3.358000	0.52284	2.695000	0.91970	0.650000	0.86243	TCC		0.493	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		42	194	0	0	0	0.013114	0	42	194		
PRDM9	56979	broad.mit.edu	37	5	23521274	23521274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:23521274C>G	ENST00000296682.3	+	6	676	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	165					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGACAGCACTCAAGACTAAAA	0.453										HNSCC(3;0.000094)																												uc003jgo.2		NaN																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(493-495)TCA>TGA		PR domain containing 9							100.0	98.0	99.0					5																	23521274		1833	4089	5922	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23521274C>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.494C>G	5.37:g.23521274C>G	ENSP00000296682:p.Ser165*	HNSCC(3;0.000094)					p.S165*	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			6	676	+			165					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.494C>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125929	0.77436	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.31	0.222	0.15288	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.9125	5.1598	0.15054	0.0:0.4563:0.4175:0.1261	.	.	.	.	X	165	.	ENSP00000296682:S165X	S	+	2	0	PRDM9	23557031	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	0.273000	0.18662	0.035000	0.15519	0.531000	0.56144	TCA		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227		14	69	0	0	0	0.001855	0	14	69		
ANKRA2	57763	broad.mit.edu	37	5	72856967	72856967	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:72856967G>C	ENST00000296785.3	-	3	1094	c.436C>G	c.(436-438)Ctg>Gtg	p.L146V		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	146						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		TTTGCTAACAGAGGTGTGGTA	0.343																																						uc003kcu.1		NaN																	0					0						c.(436-438)CTG>GTG		ankyrin repeat, family A (RFXANK-like), 2							276.0	250.0	259.0					5																	72856967		2203	4300	6503	SO:0001583	missense	57763					cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	g.chr5:72856967G>C	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.436C>G	5.37:g.72856967G>C	ENSP00000296785:p.Leu146Val					ANKRA2_uc003kcv.2_Missense_Mutation_p.L146V	p.L146V	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)	3	1082	-		Lung NSC(167;0.0378)|Ovarian(174;0.0908)	146						Missense_Mutation	SNP	ENST00000296785.3	37	c.436C>G	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780345	0.31502	.	.	ENSG00000164331	ENST00000296785	T	0.41400	1.0	5.16	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.46964	0.1420	L	0.27053	0.805	0.51012	D	0.999907	P	0.52842	0.956	P	0.62184	0.899	T	0.48647	-0.9017	10	0.87932	D	0	-8.5462	11.1339	0.48362	0.1512:0.0:0.8488:0.0	.	146	Q9H9E1	ANRA2_HUMAN	V	146	ENSP00000296785:L146V	ENSP00000296785:L146V	L	-	1	2	ANKRA2	72892723	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.678000	0.54627	1.136000	0.42199	0.557000	0.71058	CTG		0.343	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2		NM_023039		11	34	0	0	0	0.00245	0	11	34		
RASGRF2	5924	broad.mit.edu	37	5	80369170	80369170	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:80369170C>T	ENST00000265080.4	+	5	853	c.786C>T	c.(784-786)ctC>ctT	p.L262L	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	262	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTCACCAGCTCTACATCCTGG	0.512																																						uc003kha.1		NaN																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(784-786)CTC>CTT		Ras protein-specific guanine							152.0	133.0	139.0					5																	80369170		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80369170C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.786C>T	5.37:g.80369170C>T						RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.L90L	p.L262L	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	5	786	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	262			DH.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.786C>T	CCDS4052.1																																																																																				0.512	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		NM_006909		9	43	0	0	0	0.008291	0	9	43		
MCC	4163	broad.mit.edu	37	5	112363128	112363128	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:112363128C>T	ENST00000302475.4	-	17	2924	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	MCC_ENST00000515367.2_Silent_p.L724L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L977L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	787					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTAACTTCTTCAGTTTGTTTT	0.448																																						uc003kqj.3		NaN																	0				ovary(1)	1						c.(2359-2361)CTG>CTA		mutated in colorectal cancers isoform 2							243.0	206.0	219.0					5																	112363128		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112363128C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2361G>A	5.37:g.112363128C>T						MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.L977L	p.L787L	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	17	2891	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	787					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.2361G>A	CCDS4111.1																																																																																				0.448	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3		NM_001085377		6	82	0	0	0	0.001984	0	6	82		
ISOC1	51015	broad.mit.edu	37	5	128440990	128440990	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:128440990C>T	ENST00000173527.5	+	3	558	c.542C>T	c.(541-543)cCa>cTa	p.P181L		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	181						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CTGGTACTTCCAAAGACCAAG	0.398																																						uc003kva.2		NaN																	0					0						c.(541-543)CCA>CTA		isochorismatase domain containing 1							104.0	100.0	101.0					5																	128440990		2005	4201	6206	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128440990C>T	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.542C>T	5.37:g.128440990C>T	ENSP00000173527:p.Pro181Leu						p.P181L	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	3	560	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	181					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.542C>T	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786833	0.70337	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.77	4.77	0.60923	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	L	0.52011	1.625	0.80722	D	1	B	0.20780	0.048	B	0.32289	0.143	T	0.60063	-0.7336	8	.	.	.	-13.9418	18.3597	0.90371	0.0:1.0:0.0:0.0	.	181	Q96CN7	ISOC1_HUMAN	L	160;172;181;172	.	.	P	+	2	0	ISOC1	128468889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.887000	0.75616	2.662000	0.90505	0.591000	0.81541	CCA		0.398	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1		NM_016048		9	25	0	0	0	0.004482	0	9	25		
ANKHD1	54882	broad.mit.edu	37	5	139876702	139876702	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:139876702C>G	ENST00000360839.2	+	15	2997	c.2843C>G	c.(2842-2844)tCt>tGt	p.S948C	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S948C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S948C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	948						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAAATTCTCTTGAACTT	0.428																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(2842-2844)TCT>TGT		ANKHD1-EIF4EBP3 protein							130.0	131.0	131.0					5																	139876702		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139876702C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2843C>G	5.37:g.139876702C>G	ENSP00000354085:p.Ser948Cys					ANKHD1_uc003lfq.1_Missense_Mutation_p.S967C|ANKHD1_uc003lfr.2_Missense_Mutation_p.S948C|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.S428C|ANKHD1_uc003lfv.1_Intron	p.S948C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2967	+			948					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2843C>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280233	0.59758	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.68025	-0.26;-0.3;-0.19;-0.3	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.121924	0.64402	D	0.000020	T	0.74191	0.3684	L	0.43152	1.355	0.58432	D	0.999999	P;D;D	0.56968	0.514;0.978;0.978	P;P;P	0.56865	0.606;0.808;0.808	T	0.73392	-0.3997	10	0.49607	T	0.09	.	19.9803	0.97323	0.0:1.0:0.0:0.0	.	948;948;948	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	C	948;981;948;948;482;967;948	ENSP00000354085:S948C;ENSP00000297183:S948C;ENSP00000394489:S967C;ENSP00000432016:S948C	ENSP00000432016:S948C	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.790000	0.55461	2.718000	0.92993	0.591000	0.81541	TCT		0.428	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		4	84	0	0	0	0.009096	0	4	84		
PCDHGC4	56098	broad.mit.edu	37	5	140865104	140865104	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:140865104G>C	ENST00000306593.1	+	1	364	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGGTAGAGATCGTAGA	0.582																																						uc003lky.1		NaN																	0				ovary(4)	4						c.(364-366)GAG>CAG		protocadherin gamma subfamily C, 4 isoform 1							87.0	85.0	86.0					5																	140865104		2203	4300	6503	SO:0001583	missense	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140865104G>C	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.364G>C	5.37:g.140865104G>C	ENSP00000306918:p.Glu122Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.E122Q	p.E122Q	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	364	+			122			Cadherin 1.|Extracellular (Potential).		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.364G>C	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235244	0.79800	.	.	ENSG00000242419	ENST00000306593	T	0.53206	0.63	5.0	5.0	0.66597	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.67325	0.2881	M	0.73430	2.235	0.28394	N	0.918949	D;P	0.62365	0.991;0.93	P;P	0.59643	0.861;0.625	T	0.64093	-0.6488	9	0.66056	D	0.02	.	18.4946	0.90860	0.0:0.0:1.0:0.0	.	122;122	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	Q	122	ENSP00000306918:E122Q	ENSP00000306918:E122Q	E	+	1	0	PCDHGC4	140845288	1.000000	0.71417	0.914000	0.36105	0.988000	0.76386	5.549000	0.67261	2.596000	0.87737	0.561000	0.74099	GAG		0.582	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1		NM_018928		5	83	0	0	0	0.00308	0	5	83		
PCDH12	51294	broad.mit.edu	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:141336615C>T	ENST00000231484.3	-	1	2012	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A268T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTGTGGCGGTCAGTTTT	0.527																																						uc003llx.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)	3						c.(802-804)GCC>ACC		protocadherin 12 precursor							97.0	95.0	96.0					5																	141336615		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336615C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.802G>A	5.37:g.141336615C>T	ENSP00000231484:p.Ala268Thr						p.A268T	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2013	-		all_hematologic(541;0.0999)	268			Extracellular (Potential).|Cadherin 3.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.802G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727645	0.89390	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.32	5.32	0.75619	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82190	0.4983	M	0.93283	3.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86437	0.1764	10	0.87932	D	0	.	16.5409	0.84384	0.0:1.0:0.0:0.0	.	268	Q9NPG4	PCD12_HUMAN	T	268	ENSP00000231484:A268T	ENSP00000231484:A268T	A	-	1	0	PCDH12	141316799	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	7.651000	0.83577	2.767000	0.95098	0.655000	0.94253	GCC		0.527	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1		NM_016580		25	35	0	0	0	0.004656	0	25	35		
TCOF1	6949	broad.mit.edu	37	5	149758896	149758896	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:149758896G>A	ENST00000504761.2	+	16	2583	c.2583G>A	c.(2581-2583)caG>caA	p.Q861Q	TCOF1_ENST00000445265.2_Silent_p.Q784Q|TCOF1_ENST00000451292.1_Silent_p.Q861Q|TCOF1_ENST00000513346.1_Silent_p.Q861Q|TCOF1_ENST00000394269.3_Silent_p.Q861Q|TCOF1_ENST00000323668.7_Silent_p.Q784Q|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000377797.3_Silent_p.Q861Q|TCOF1_ENST00000439160.2_Silent_p.Q861Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	861					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCCCAGACAGGGCCAG	0.627																																						uc003lry.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(2581-2583)CAG>CAA		Treacher Collins-Franceschetti syndrome 1							61.0	72.0	68.0					5																	149758896		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149758896G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2583G>A	5.37:g.149758896G>A						TCOF1_uc003lrw.2_Silent_p.Q861Q|TCOF1_uc011dch.1_Silent_p.Q861Q|TCOF1_uc003lrz.2_Silent_p.Q861Q|TCOF1_uc003lrx.2_Silent_p.Q784Q|TCOF1_uc003lsa.2_Silent_p.Q784Q|TCOF1_uc011dci.1_Intron	p.Q861Q	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2691	+		all_hematologic(541;0.224)	861					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.2583G>A	CCDS54936.1																																																																																				0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1		NM_001008656		25	37	0	0	0	0.00278	0	25	37		
FAT2	2196	broad.mit.edu	37	5	150925577	150925577	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:150925577G>C	ENST00000261800.5	-	9	5123	c.5111C>G	c.(5110-5112)tCt>tGt	p.S1704C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1704	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTTCATAGAGAAGACTCC	0.448																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5110-5112)TCT>TGT		FAT tumor suppressor 2 precursor							81.0	85.0	84.0					5																	150925577		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925577G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5111C>G	5.37:g.150925577G>C	ENSP00000261800:p.Ser1704Cys					GM2A_uc011dcs.1_Intron	p.S1704C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5124	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1704			Cadherin 15.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5111C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376152	0.42105	.	.	ENSG00000086570	ENST00000261800	T	0.54675	0.56	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.217543	0.32640	N	0.005840	T	0.69575	0.3126	M	0.72353	2.195	0.19775	N	0.999952	D	0.76494	0.999	D	0.68943	0.961	T	0.63844	-0.6545	10	0.54805	T	0.06	.	14.0513	0.64739	0.0:0.0:0.8491:0.1509	.	1704	Q9NYQ8	FAT2_HUMAN	C	1704	ENSP00000261800:S1704C	ENSP00000261800:S1704C	S	-	2	0	FAT2	150905770	0.987000	0.35691	0.060000	0.19600	0.988000	0.76386	2.604000	0.46274	2.534000	0.85438	0.467000	0.42956	TCT		0.448	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		36	47	0	0	0	0.003755	0	36	47		
TENM2	57451	broad.mit.edu	37	5	167626878	167626878	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:167626878G>A	ENST00000518659.1	+	17	3211	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	TENM2_ENST00000519204.1_Missense_Mutation_p.E937K|TENM2_ENST00000520394.1_Missense_Mutation_p.E826K|TENM2_ENST00000403607.2_Missense_Mutation_p.E882K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1058K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1058					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGTTCTTCATGAAGAAATCGA	0.488																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(3145-3147)GAA>AAA		odz, odd Oz/ten-m homolog 2							163.0	158.0	159.0					5																	167626878		1941	4151	6092	SO:0001583	missense	57451							g.chr5:167626878G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3172G>A	5.37:g.167626878G>A	ENSP00000429430:p.Glu1058Lys					ODZ2_uc003lzr.3_Missense_Mutation_p.E826K|ODZ2_uc003lzt.3_Missense_Mutation_p.E422K|ODZ2_uc010jje.2_Missense_Mutation_p.E320K	p.E1049K	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	17	3145	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3145G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.093532	0.94149	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.94138	-2.81;-2.85;-2.95;-3.27;-3.36	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	M	0.88450	2.955	0.58432	D	0.999999	D;D;D	0.61697	0.982;0.97;0.99	P;P;D	0.72982	0.891;0.781;0.979	D	0.98054	1.0389	10	0.87932	D	0	.	18.4354	0.90643	0.0:0.0:1.0:0.0	.	1058;1058;826	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	1058;1058;937;826;882	ENSP00000429430:E1058K;ENSP00000438635:E1058K;ENSP00000428964:E937K;ENSP00000427874:E826K;ENSP00000384905:E882K	ENSP00000384905:E882K	E	+	1	0	ODZ2	167559456	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.338000	0.79540	0.561000	0.74099	GAA		0.488	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		79	118	0	0	0	0.01441	0	79	118		
TENM2	57451	broad.mit.edu	37	5	167673915	167673915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:167673915G>A	ENST00000518659.1	+	27	6010	c.5971G>A	c.(5971-5973)Gaa>Aaa	p.E1991K	TENM2_ENST00000519204.1_Missense_Mutation_p.E1870K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1752K|TENM2_ENST00000403607.2_Missense_Mutation_p.E1815K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1990K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1991					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAACCCGCCTGAAAGCAATGC	0.557																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(5944-5946)GAA>AAA		odz, odd Oz/ten-m homolog 2							91.0	95.0	93.0					5																	167673915		2048	4201	6249	SO:0001583	missense	57451							g.chr5:167673915G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5971G>A	5.37:g.167673915G>A	ENSP00000429430:p.Glu1991Lys					ODZ2_uc003lzr.3_Missense_Mutation_p.E1752K|ODZ2_uc003lzt.3_Missense_Mutation_p.E1355K|ODZ2_uc010jje.2_Missense_Mutation_p.E1246K	p.E1982K	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	5944	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5944G>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.121041	0.77436	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89810	-2.1;-2.09;-2.2;-2.55;-2.57	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.999;0.998;0.979	D	0.92272	0.5826	10	0.21540	T	0.41	.	19.2461	0.93902	0.0:0.0:1.0:0.0	.	1990;1991;1752	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	1991;1990;1870;1752;1815	ENSP00000429430:E1991K;ENSP00000438635:E1990K;ENSP00000428964:E1870K;ENSP00000427874:E1752K;ENSP00000384905:E1815K	ENSP00000384905:E1815K	E	+	1	0	ODZ2	167606493	1.000000	0.71417	0.912000	0.35992	0.709000	0.40893	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	GAA		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		21	82	0	0	0	0.008871	0	21	82		
FAF2	23197	broad.mit.edu	37	5	175921066	175921066	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr5:175921066G>T	ENST00000261942.6	+	6	603	c.550G>T	c.(550-552)Gac>Tac	p.D184Y		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	184					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGATCACCAGGACTCTGATGA	0.398																																						uc003mej.3		NaN																	0				ovary(1)	1						c.(550-552)GAC>TAC		UBX domain containing 8							175.0	169.0	171.0					5																	175921066		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175921066G>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.550G>T	5.37:g.175921066G>T	ENSP00000261942:p.Asp184Tyr						p.D184Y	NM_014613	NP_055428	Q96CS3	FAF2_HUMAN			6	603	+			184					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.550G>T	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748194	0.89663	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.41758	0.99	5.36	5.36	0.76844	UAS (1);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	L	0.52011	1.625	0.80722	D	1	D	0.61080	0.989	P	0.59056	0.851	T	0.54016	-0.8356	10	0.46703	T	0.11	-25.6371	19.4543	0.94882	0.0:0.0:1.0:0.0	.	184	Q96CS3	FAF2_HUMAN	Y	184	ENSP00000261942:D184Y	ENSP00000261942:D184Y	D	+	1	0	FAF2	175853672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.664000	0.90586	0.650000	0.86243	GAC		0.398	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1		NM_014613		28	62	1	0	7.26314e-15	0.007291	7.89867e-15	28	62		
DSP	1832	broad.mit.edu	37	6	7578018	7578018	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:7578018G>C	ENST00000379802.3	+	21	3225	c.2884G>C	c.(2884-2886)Gag>Cag	p.E962Q	DSP_ENST00000418664.2_Missense_Mutation_p.E962Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	962	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGATTATGAGCTCCAGCT	0.438																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2884-2886)GAG>CAG		desmoplakin isoform I							125.0	119.0	121.0					6																	7578018		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7578018G>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2884G>C	6.37:g.7578018G>C	ENSP00000369129:p.Glu962Gln					DSP_uc003mxq.1_Missense_Mutation_p.E962Q	p.E962Q	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	21	3163	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	962			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2884G>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785706	0.90282	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.78481	-1.18;-1.18	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	D	0.86339	0.5909	M	0.76170	2.325	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.85542	0.1216	10	0.48119	T	0.1	.	19.5192	0.95179	0.0:0.0:1.0:0.0	.	1009;962	Q4LE79;P15924	.;DESP_HUMAN	Q	962;962;767	ENSP00000369129:E962Q;ENSP00000396591:E962Q	ENSP00000369129:E962Q	E	+	1	0	DSP	7523017	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	GAG		0.438	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		5	93	0	0	0	0.000602	0	5	93		
SNRNP48	154007	broad.mit.edu	37	6	7602962	7602962	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:7602962G>C	ENST00000342415.5	+	6	761	c.702G>C	c.(700-702)aaG>aaC	p.K234N		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	234					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACATAACCAAGAAATCATATA	0.338																																						uc003mxr.2		NaN																	0					0						c.(700-702)AAG>AAC		U11/U12 snRNP 48K							69.0	73.0	71.0					6																	7602962		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7602962G>C	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.702G>C	6.37:g.7602962G>C	ENSP00000339834:p.Lys234Asn					SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	p.K234N	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN			6	761	+			234					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.702G>C	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041690	0.55003	.	.	ENSG00000168566	ENST00000342415	T	0.46819	0.86	4.68	0.573	0.17363	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	M	0.81341	2.54	0.43724	D	0.996208	D	0.76494	0.999	D	0.80764	0.994	T	0.56631	-0.7947	10	0.87932	D	0	-19.9484	6.7034	0.23236	0.5149:0.0:0.4851:0.0	.	234	Q6IEG0	SNR48_HUMAN	N	234	ENSP00000339834:K234N	ENSP00000339834:K234N	K	+	3	2	SNRNP48	7547961	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.689000	0.46993	0.205000	0.20568	-0.251000	0.11542	AAG		0.338	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3		NM_152551		9	27	0	0	0	0.006214	0	9	27		
PHACTR1	221692	broad.mit.edu	37	6	13182823	13182823	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:13182823C>T	ENST00000379350.1	+	6	698	c.569C>T	c.(568-570)tCt>tTt	p.S190F	PHACTR1_ENST00000457702.2_Missense_Mutation_p.S45F|PHACTR1_ENST00000379345.2_Missense_Mutation_p.S45F|PHACTR1_ENST00000332995.7_Missense_Mutation_p.S190F			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	190					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)			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)			AGCCAGCTGTCTCTGCCTGCC	0.537																																						uc010jpc.2		NaN																	0					0						c.(568-570)TCT>TTT		phosphatase and actin regulator 1							78.0	83.0	81.0					6																	13182823		1986	4161	6147	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13182823C>T	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.569C>T	6.37:g.13182823C>T	ENSP00000368655:p.Ser190Phe					PHACTR1_uc011dir.1_Missense_Mutation_p.S190F|PHACTR1_uc003nag.1_Missense_Mutation_p.S190F|PHACTR1_uc003nah.1_Missense_Mutation_p.S190F	p.S190F	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	901	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	190					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.569C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.68|19.68	3.873664|3.873664	0.72180|0.72180	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702;ENST00000379345;ENST00000434977	.|T;T;T	.|0.34859	.|1.36;1.37;1.34	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.739494	.|0.13733	.|N	.|0.366515	T|T	0.16811|0.16811	0.0404|0.0404	N|N	0.24115|0.24115	0.695|0.695	0.25402|0.25402	N|N	0.988431|0.988431	.|P;P;P	.|0.46512	.|0.879;0.718;0.815	.|B;B;B	.|0.43575	.|0.424;0.169;0.319	T|T	0.09422|0.09422	-1.0675|-1.0675	5|10	.|0.72032	.|D	.|0.01	-9.5059|-9.5059	12.1183|12.1183	0.53878|0.53878	0.0:0.9223:0.0:0.0777|0.0:0.9223:0.0:0.0777	.|.	.|190;190;190	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	F|F	25|190;190;190;45;45;76	.|ENSP00000368655:S190F;ENSP00000329880:S190F;ENSP00000397669:S45F	.|ENSP00000329880:S190F	L|S	+|+	1|2	0|0	PHACTR1|PHACTR1	13290802|13290802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.086000|4.086000	0.57664|0.57664	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.537	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1		XM_166420		4	234	0	0	0	0.009096	0	4	234		
PHACTR1	221692	broad.mit.edu	37	6	13182825	13182825	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:13182825C>T	ENST00000379350.1	+	6	700	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	PHACTR1_ENST00000457702.2_Silent_p.L46L|PHACTR1_ENST00000379345.2_Silent_p.L46L|PHACTR1_ENST00000332995.7_Silent_p.L191L			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	191					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)			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)			CCAGCTGTCTCTGCCTGCCCT	0.542																																						uc010jpc.2		NaN																	0					0						c.(571-573)CTG>TTG		phosphatase and actin regulator 1							77.0	82.0	81.0					6																	13182825		1987	4162	6149	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13182825C>T	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.571C>T	6.37:g.13182825C>T						PHACTR1_uc011dir.1_Silent_p.L191L|PHACTR1_uc003nag.1_Silent_p.L191L|PHACTR1_uc003nah.1_Silent_p.L191L	p.L191L	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	903	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	191					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.571C>T		.	.	.	.	.	.	.	.	.	.	C	10.05	1.245103	0.22796	.	.	ENSG00000112137	ENST00000406205	.	.	.	5.67	3.87	0.44632	.	.	.	.	.	T	0.61388	0.2343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65973	-0.6038	5	0.72032	D	0.01	-10.2139	10.7274	0.46077	0.0:0.8448:0.0:0.1552	.	.	.	.	F	226	.	ENSP00000384760:S226F	S	+	2	0	PHACTR1	13290804	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.244000	0.43124	0.746000	0.32786	0.655000	0.94253	TCT		0.542	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1		XM_166420		4	228	0	0	0	0.009096	0	4	228		
MBOAT1	154141	broad.mit.edu	37	6	20126922	20126922	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:20126922G>A	ENST00000324607.7	-	7	704	c.540C>T	c.(538-540)ccC>ccT	p.P180P	MBOAT1_ENST00000536798.1_Silent_p.P180P|MBOAT1_ENST00000541730.1_Silent_p.P31P	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	180					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCAAAAAAGAGGGTTTCACTC	0.338											OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ncx.1		NaN																	0					0						c.(538-540)CCC>CCT		membrane bound O-acyltransferase domain							56.0	54.0	55.0					6																	20126922		2203	4300	6503	SO:0001819	synonymous_variant	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20126922G>A	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.540C>T	6.37:g.20126922G>A			OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	738	MBOAT1_uc011dji.1_Silent_p.P31P	p.P180P	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		7	745	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		180			Helical; (Potential).		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	ENST00000324607.7	37	c.540C>T	CCDS34346.1																																																																																				0.338	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1				7	209	0	0	0	0.00308	0	7	209		
HIST1H1E	3008	broad.mit.edu	37	6	26156619	26156619	+	Start_Codon_SNP	SNP	A	A	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:26156619A>T	ENST00000304218.3	+	1	61	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	1					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TGCCTTCAACATGTCCGAGAC	0.672																																						uc003ngq.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1-3)ATG>TTG		histone cluster 1, H1e							44.0	54.0	51.0					6																	26156619		2157	4251	6408	SO:0001582	initiator_codon_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156619A>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.1A>T	6.37:g.26156619A>T	ENSP00000307705:p.Met1Leu					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.M1L	NM_005321	NP_005312	P10412	H14_HUMAN			1	61	+			1					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.1A>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	15.96	2.986251	0.53934	.	.	ENSG00000168298	ENST00000304218	T	0.04551	3.6	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	.	.	.	0.80722	D	1	P	0.39940	0.696	P	0.51170	0.661	T	0.00628	-1.1637	9	0.87932	D	0	-11.4786	13.8588	0.63548	1.0:0.0:0.0:0.0	.	1	P10412	H14_HUMAN	L	1	ENSP00000307705:M1L	ENSP00000307705:M1L	M	+	1	0	HIST1H1E	26264598	1.000000	0.71417	0.996000	0.52242	0.512000	0.34134	5.289000	0.65656	2.270000	0.75569	0.533000	0.62120	ATG		0.672	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1		NM_005321	Missense_Mutation	5	197	0	0	0	0.001168	0	5	197		
BTN3A1	11119	broad.mit.edu	37	6	26407948	26407948	+	Silent	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:26407948G>T	ENST00000289361.6	+	4	851	c.483G>T	c.(481-483)ggG>ggT	p.G161G	BTN3A1_ENST00000425234.2_Silent_p.G161G|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Silent_p.G161G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	161	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGATGGAGGGATCCATCTGG	0.517																																						uc003nhv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(481-483)GGG>GGT		butyrophilin, subfamily 3, member A1 isoform a							126.0	108.0	114.0					6																	26407948		2203	4300	6503	SO:0001819	synonymous_variant	11119				lipid metabolic process	integral to membrane		g.chr6:26407948G>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.483G>T	6.37:g.26407948G>T						BTN3A1_uc011dkj.1_Silent_p.G161G|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Silent_p.G161G	p.G161G	NM_007048	NP_008979	O00481	BT3A1_HUMAN			4	851	+			161			Ig-like V-type 2.|Extracellular (Potential).		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.483G>T	CCDS4608.1																																																																																				0.517	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3				9	118	1	0	1.12685e-05	0.004482	1.18976e-05	9	118		
C6orf15	29113	broad.mit.edu	37	6	31079483	31079483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:31079483C>T	ENST00000259870.3	-	2	656	c.653G>A	c.(652-654)tGg>tAg	p.W218*		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	218					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCACCTCCCCAGGACACACT	0.612																																						uc003nsk.1		NaN																	0					0						c.(652-654)TGG>TAG		STG protein precursor							34.0	35.0	34.0					6																	31079483		1718	3280	4998	SO:0001587	stop_gained	29113							g.chr6:31079483C>T	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.653G>A	6.37:g.31079483C>T	ENSP00000259870:p.Trp218*						p.W218*	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	653	-			218					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Nonsense_Mutation	SNP	ENST00000259870.3	37	c.653G>A	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628964	0.87560	.	.	ENSG00000204542	ENST00000259870	.	.	.	4.4	3.49	0.39957	.	0.320888	0.23023	N	0.052838	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1977	7.1852	0.25795	0.1958:0.6144:0.1898:0.0	.	.	.	.	X	218	.	ENSP00000259870:W218X	W	-	2	0	C6orf15	31187462	1.000000	0.71417	0.958000	0.39756	0.997000	0.91878	1.629000	0.37071	0.992000	0.38840	0.643000	0.83706	TGG		0.612	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2		NM_014070		8	98	0	0	0	0.004482	0	8	98		
UHRF1BP1	54887	broad.mit.edu	37	6	34802629	34802629	+	Silent	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:34802629C>G	ENST00000192788.5	+	6	831	c.660C>G	c.(658-660)ctC>ctG	p.L220L	UHRF1BP1_ENST00000452449.2_Silent_p.L220L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	220							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAATAGCCCTCAAAAGAAGAG	0.438																																						uc003oju.3		NaN																	0				ovary(3)	3						c.(658-660)CTC>CTG		ICBP90 binding protein 1							100.0	101.0	101.0					6																	34802629		1916	4139	6055	SO:0001819	synonymous_variant	54887							g.chr6:34802629C>G	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.660C>G	6.37:g.34802629C>G						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	p.L220L	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			6	894	+			220					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.660C>G	CCDS43455.1																																																																																				0.438	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754		3	73	0	0	0	0.009096	0	3	73		
DNAH8	1769	broad.mit.edu	37	6	38783350	38783350	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:38783350G>A	ENST00000359357.3	+	24	3043	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1147H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R930H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	930					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGCAAATCCGTCCCATCAAG	0.463																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2788-2790)CGT>CAT		dynein, axonemal, heavy polypeptide 8							109.0	89.0	96.0					6																	38783350		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38783350G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2789G>A	6.37:g.38783350G>A	ENSP00000352312:p.Arg930His						p.R930H	NM_001371	NP_001362					24	3389	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2789G>A		.	.	.	.	.	.	.	.	.	.	G	12.21	1.870785	0.33069	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.58210	0.35;0.35;0.35	5.74	2.98	0.34508	.	0.432534	0.22322	N	0.061596	T	0.16428	0.0395	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19484	-1.0304	10	0.40728	T	0.16	.	5.417	0.16380	0.1662:0.0:0.6738:0.16	.	930	Q96JB1	DYH8_HUMAN	H	1135;1135;930;930	ENSP00000333363:R1135H;ENSP00000352312:R930H;ENSP00000402294:R930H	ENSP00000333363:R1135H	R	+	2	0	DNAH8	38891328	.	.	0.001000	0.08648	0.159000	0.22180	.	.	0.351000	0.24027	0.650000	0.86243	CGT		0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		5	32	0	0	0	0.000602	0	5	32		
GUCA1A	2978	broad.mit.edu	37	6	42146056	42146056	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:42146056C>A	ENST00000394237.1	+	4	1216	c.240C>A	c.(238-240)ctC>ctA	p.L80L	GUCA1A_ENST00000053469.4_Silent_p.L80L|GUCA1A_ENST00000541991.1_Silent_p.L80L|GUCA1A_ENST00000372958.1_Silent_p.L80L			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	80	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCAGCGCTCAGCTTGGTCC	0.622																																						uc003orx.2		NaN																	0					0						c.(238-240)CTC>CTA		guanylate cyclase activator 1A (retina)							116.0	109.0	112.0					6																	42146056		2203	4300	6503	SO:0001819	synonymous_variant	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42146056C>A		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.240C>A	6.37:g.42146056C>A						GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.L80L	p.L80L	NM_000409	NP_000400	P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	885	+	Colorectal(47;0.196)		80			EF-hand 2.		B3KWT4|Q7Z6T1|Q9NU14	Silent	SNP	ENST00000394237.1	37	c.240C>A	CCDS4864.1																																																																																				0.622	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1				28	111	1	0	2.12542e-12	0.00632	2.30563e-12	28	111		
GPR110	266977	broad.mit.edu	37	6	46977428	46977428	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:46977428G>C	ENST00000371253.2	-	11	1958	c.1743C>G	c.(1741-1743)atC>atG	p.I581M	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I384M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	581					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAACGGGGAAGATTGTAGAGG	0.448																																						uc003oyt.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1741-1743)ATC>ATG		G-protein coupled receptor 110 isoform 1							127.0	117.0	121.0					6																	46977428		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977428G>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1743C>G	6.37:g.46977428G>C	ENSP00000360299:p.Ile581Met					GPR110_uc011dwl.1_Missense_Mutation_p.I269M	p.I581M	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1942	-			581			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1743C>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	6.007	0.369731	0.11352	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.34472	1.36;1.36	5.76	2.34	0.29019	.	0.582019	0.16359	N	0.217841	T	0.11324	0.0276	L	0.49126	1.545	0.09310	N	1	B	0.30193	0.272	B	0.26770	0.073	T	0.21655	-1.0239	10	0.33141	T	0.24	-7.9259	5.6348	0.17530	0.2127:0.0:0.649:0.1383	.	581	Q5T601	GP110_HUMAN	M	581;581;384	ENSP00000360299:I581M;ENSP00000283297:I384M	ENSP00000283297:I384M	I	-	3	3	GPR110	47085387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.516000	0.22817	0.133000	0.18654	-0.378000	0.06908	ATC		0.448	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840		13	54	0	0	0	0.013537	0	13	54		
GPR110	266977	broad.mit.edu	37	6	46977848	46977848	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:46977848G>A	ENST00000371253.2	-	11	1538	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.L244L	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	441					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AACCCCTTTTGAGTTGGCTTT	0.438																																						uc003oyt.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1321-1323)CTC>CTT		G-protein coupled receptor 110 isoform 1							97.0	90.0	93.0					6																	46977848		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977848G>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1323C>T	6.37:g.46977848G>A						GPR110_uc011dwl.1_Silent_p.L129L	p.L441L	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1522	-			441			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.1323C>T	CCDS34471.1																																																																																				0.438	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840		10	70	0	0	0	0.008291	0	10	70		
PHF3	23469	broad.mit.edu	37	6	64421841	64421841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:64421841C>T	ENST00000262043.3	+	16	4697	c.4357C>T	c.(4357-4359)Caa>Taa	p.Q1453*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q1453*			Q92576	PHF3_HUMAN	PHD finger protein 3	1453					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTGGGAGAATCAACCTACTAC	0.448																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(4357-4359)CAA>TAA		PHD finger protein 3							73.0	80.0	77.0					6																	64421841		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64421841C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4357C>T	6.37:g.64421841C>T	ENSP00000262043:p.Gln1453*					PHF3_uc003pen.2_Nonsense_Mutation_p.Q1365*|PHF3_uc011dxs.1_Nonsense_Mutation_p.Q722*	p.Q1453*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4383	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1453					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.4357C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	41	9.053890	0.99050	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	.	.	.	5.86	5.86	0.93980	.	0.000000	0.38326	N	0.001721	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-16.163	20.1727	0.98161	0.0:1.0:0.0:0.0	.	.	.	.	X	722;1453;1453	.	ENSP00000262043:Q1453X	Q	+	1	0	PHF3	64479800	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.108000	0.57817	2.757000	0.94681	0.655000	0.94253	CAA		0.448	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				17	53	0	0	0	0.00499	0	17	53		
IBTK	25998	broad.mit.edu	37	6	82891624	82891624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:82891624C>G	ENST00000306270.7	-	26	4246	c.3697G>C	c.(3697-3699)Gaa>Caa	p.E1233Q	IBTK_ENST00000503631.1_Missense_Mutation_p.E1032Q|IBTK_ENST00000510291.1_Missense_Mutation_p.E1218Q	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1233					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAGAATTTTCAATTCCTTTA	0.308																																						uc003pjl.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(3697-3699)GAA>CAA		inhibitor of Bruton's tyrosine kinase							38.0	39.0	39.0					6																	82891624		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82891624C>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3697G>C	6.37:g.82891624C>G	ENSP00000305721:p.Glu1233Gln					IBTK_uc011dyu.1_Missense_Mutation_p.E184Q|IBTK_uc011dyv.1_Missense_Mutation_p.E1218Q|IBTK_uc011dyw.1_Missense_Mutation_p.E1032Q|IBTK_uc010kbi.1_Missense_Mutation_p.E927Q	p.E1233Q	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	26	4224	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	1233					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.3697G>C	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011051	0.75046	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.35789	1.68;1.29;1.67	5.26	5.26	0.73747	.	0.120854	0.53938	D	0.000051	T	0.46658	0.1404	M	0.66939	2.045	0.51233	D	0.999911	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;P;D;D	0.91635	0.976;0.898;0.999;0.926	T	0.27365	-1.0076	10	0.16896	T	0.51	-26.1793	16.1407	0.81519	0.0:1.0:0.0:0.0	.	1032;1218;184;1233	E9PDR5;E7EPI0;B3KX60;Q9P2D0	.;.;.;IBTK_HUMAN	Q	1233;1032;1218	ENSP00000305721:E1233Q;ENSP00000422762:E1032Q;ENSP00000426405:E1218Q	ENSP00000305721:E1233Q	E	-	1	0	IBTK	82948343	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.052000	0.49893	2.613000	0.88420	0.543000	0.68304	GAA		0.308	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2		NM_015525		3	27	0	0	0	0.004672	0	3	27		
CEP162	22832	broad.mit.edu	37	6	84925148	84925148	+	Missense_Mutation	SNP	C	C	T	rs201597217		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:84925148C>T	ENST00000403245.3	-	5	469	c.355G>A	c.(355-357)Gga>Aga	p.G119R	KIAA1009_ENST00000257766.4_Missense_Mutation_p.G43R	NM_014895.2	NP_055710.2														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)		AATCCCACTCCGAGACTACTA	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		15669	0.0		0.001	False		,,,				2504	0.0					uc010kbp.2		NaN																	0				ovary(1)	1						c.(355-357)GGA>AGA		KIAA1009 protein							89.0	81.0	84.0					6																	84925148		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84925148C>T																												ENST00000403245.3:c.355G>A	6.37:g.84925148C>T	ENSP00000385215:p.Gly119Arg					KIAA1009_uc003pkj.3_Missense_Mutation_p.G43R|KIAA1009_uc003pkk.2_Missense_Mutation_p.G119R	p.G119R	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	5	452	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	119						Missense_Mutation	SNP	ENST00000403245.3	37	c.355G>A	CCDS34494.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.48	1.362153	0.24684	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.14266	2.52;2.52	5.49	4.62	0.57501	.	0.000000	0.64402	D	0.000011	T	0.07052	0.0179	M	0.71581	2.175	0.32859	D	0.5077	B;P	0.49185	0.032;0.92	B;B	0.32211	0.008;0.142	T	0.13072	-1.0523	10	0.49607	T	0.09	-25.5213	14.8127	0.70008	0.0:0.9303:0.0:0.0697	.	119;119	Q5TB80;C9JFM9	QN1_HUMAN;.	R	43;119	ENSP00000257766:G43R;ENSP00000385215:G119R	ENSP00000257766:G43R	G	-	1	0	KIAA1009	84981867	0.974000	0.33945	0.840000	0.33206	0.012000	0.07955	3.842000	0.55858	1.445000	0.47624	-0.216000	0.12614	GGA		0.333	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1				5	18	0	0	0	0.001984	0	5	18		
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A	rs201899366	byFrequency	TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ORC3_ENST00000417380.2_5'Flank|ORC3_ENST00000546266.1_5'Flank|ORC3_ENST00000392844.3_5'Flank|ORC3_ENST00000257789.4_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		12638	0.001		0.0	False		,,,				2504	0.0					uc003pme.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(2)|central_nervous_system(1)	3						c.(16-18)CGC>TGC		arginyl-tRNA synthetase 2, mitochondrial							26.0	32.0	30.0					6																	88299660		2202	4300	6502	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88299660G>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.16C>T	6.37:g.88299660G>A	ENSP00000358549:p.Arg6Cys		OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1258	ORC3L_uc011dzl.1_5'Flank|ORC3L_uc011dzm.1_5'Flank|ORC3L_uc011dzn.1_5'Flank|ORC3L_uc003pmg.2_5'Flank|ORC3L_uc003pmh.2_5'Flank|ORC3L_uc003pmi.2_5'Flank|ORC3L_uc011dzo.1_5'Flank|ORC3L_uc011dzp.1_5'Flank|RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	p.R6C	NM_020320	NP_064716	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	1	76	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	6					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.16C>T	CCDS5011.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.34	3.364729	0.61513	.	.	ENSG00000146282	ENST00000369536	T	0.73897	-0.79	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.101495	0.64402	D	0.000003	T	0.70753	0.3260	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.75277	-0.3374	10	0.87932	D	0	.	14.2251	0.65853	0.0:0.0:1.0:0.0	.	6	Q5T160	SYRM_HUMAN	C	6	ENSP00000358549:R6C	ENSP00000358549:R6C	R	-	1	0	RARS2	88356379	1.000000	0.71417	0.978000	0.43139	0.031000	0.12232	2.529000	0.45632	2.826000	0.97356	0.655000	0.94253	CGC		0.672	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1		NM_020320		15	33	0	0	0	0.004007	0	15	33		
LAMA4	3910	broad.mit.edu	37	6	112476811	112476811	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:112476811C>T	ENST00000230538.7	-	15	2312	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E632K|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E632K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E632K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	639	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGCTGTTTCATTGGCTTCA	0.388																																						uc003pvu.2		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1915-1917)GAA>AAA		laminin, alpha 4 isoform 1 precursor							143.0	139.0	141.0					6																	112476811		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476811C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1915G>A	6.37:g.112476811C>T	ENSP00000230538:p.Glu639Lys					LAMA4_uc003pvv.2_Missense_Mutation_p.E632K|LAMA4_uc003pvt.2_Missense_Mutation_p.E632K	p.E639K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	15	2224	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	639			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1915G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.939982	0.18281	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.11495	2.78;2.77;2.77;2.77	5.42	5.42	0.78866	.	0.210114	0.51477	D	0.000099	T	0.02571	0.0078	N	0.19112	0.55	0.80722	D	1	B;B	0.20052	0.024;0.041	B;B	0.14578	0.005;0.011	T	0.40757	-0.9546	10	0.11485	T	0.65	.	12.2959	0.54847	0.0:0.8301:0.1699:0.0	.	639;632	Q16363;Q16363-2	LAMA4_HUMAN;.	K	639;632;632;632	ENSP00000230538:E639K;ENSP00000429488:E632K;ENSP00000374114:E632K;ENSP00000416470:E632K	ENSP00000230538:E639K	E	-	1	0	LAMA4	112583504	0.993000	0.37304	0.958000	0.39756	0.986000	0.74619	1.209000	0.32357	2.817000	0.96982	0.563000	0.77884	GAA		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206		10	61	0	0	0	0.010729	0	10	61		
SOGA3	387104	broad.mit.edu	37	6	127836879	127836879	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:127836879G>C	ENST00000525778.1	-	2	1626	c.881C>G	c.(880-882)tCt>tGt	p.S294C	SOGA3_ENST00000465909.2_Missense_Mutation_p.S294C|SOGA3_ENST00000556132.1_Missense_Mutation_p.S294C|SOGA3_ENST00000481848.2_Missense_Mutation_p.S294C|SOGA3_ENST00000368268.2_Missense_Mutation_p.S294C			Q5TF21	SOGA3_HUMAN	SOGA family member 3	294					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGGGGGGCCAGACACCGGGGA	0.741																																						uc003qbd.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(880-882)TCT>TGT		hypothetical protein LOC387104 precursor							7.0	10.0	9.0					6																	127836879		1456	3517	4973	SO:0001583	missense	387104					integral to membrane		g.chr6:127836879G>C	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.881C>G	6.37:g.127836879G>C	ENSP00000434570:p.Ser294Cys						p.S294C	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	2	1746	-			294						Missense_Mutation	SNP	ENST00000525778.1	37	c.881C>G	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	4.486	0.090066	0.08632	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	3.21	3.21	0.36854	.	0.700992	0.12330	N	0.478496	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.34931	0.192	T	0.31916	-0.9926	10	0.59425	D	0.04	-1.9878	8.605	0.33767	0.0:0.2367:0.7633:0.0	.	294	Q5TF21	CF174_HUMAN	C	294	ENSP00000451768:S294C;ENSP00000357251:S294C;ENSP00000434570:S294C;ENSP00000435559:S294C	ENSP00000435559:S294C	S	-	2	0	C6orf174	127878572	0.079000	0.21365	0.023000	0.16930	0.033000	0.12548	2.719000	0.47244	2.092000	0.63282	0.462000	0.41574	TCT		0.741	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1		NM_001012279		4	23	0	0	0	0.009096	0	4	23		
MED23	9439	broad.mit.edu	37	6	131927625	131927625	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:131927625T>C	ENST00000368068.3	-	13	1540	c.1361A>G	c.(1360-1362)cAc>cGc	p.H454R	MED23_ENST00000540546.1_Missense_Mutation_p.H460R|MED23_ENST00000368060.3_Missense_Mutation_p.H454R|MED23_ENST00000368058.1_Missense_Mutation_p.H460R|MED23_ENST00000403834.3_Missense_Mutation_p.H460R|MED23_ENST00000368053.4_Missense_Mutation_p.H460R|MED23_ENST00000354577.4_Missense_Mutation_p.H460R|MED23_ENST00000545957.1_Missense_Mutation_p.H95R|MED23_ENST00000539158.1_Missense_Mutation_p.H454R	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	454					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTACTCATGGTGAAGTCTTAG	0.348																																						uc003qcs.1		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1360-1362)CAC>CGC		mediator complex subunit 23 isoform a							108.0	106.0	106.0					6																	131927625		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131927625T>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1361A>G	6.37:g.131927625T>C	ENSP00000357047:p.His454Arg					MED23_uc003qcq.2_Missense_Mutation_p.H460R|MED23_uc011eca.1_Missense_Mutation_p.H95R|MED23_uc003qct.1_Missense_Mutation_p.H460R|MED23_uc011ecb.1_RNA	p.H454R	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	13	1535	-	Breast(56;0.0753)		454					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.1361A>G	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314379	0.81358	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.63	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	L	0.47190	1.495	0.58432	D	0.999999	D;P;D;D	0.69078	0.996;0.701;0.997;0.997	P;B;D;D	0.68621	0.897;0.133;0.959;0.931	T	0.78640	-0.2125	10	0.45353	T	0.12	0.2519	11.8317	0.52299	0.0:0.07:0.0:0.93	.	95;460;454;460	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	R	460;454;460;454;460;95;460;460;454	ENSP00000346588:H460R;ENSP00000357047:H454R;ENSP00000384536:H460R;ENSP00000357039:H454R;ENSP00000357037:H460R;ENSP00000439977:H95R;ENSP00000357032:H460R;ENSP00000437818:H460R;ENSP00000445072:H454R	ENSP00000346588:H460R	H	-	2	0	MED23	131969318	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.260000	0.72502	2.127000	0.65507	0.528000	0.53228	CAC		0.348	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1				8	36	0	0	0	0.008291	0	8	36		
CNKSR3	154043	broad.mit.edu	37	6	154754641	154754641	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr6:154754641C>G	ENST00000607772.1	-	5	1052	c.508G>C	c.(508-510)Gat>Cat	p.D170H	CNKSR3_ENST00000479339.1_Splice_Site_p.D90H|CNKSR3_ENST00000433165.2_5'UTR	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	170	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACAAAGCAATCCTAAAGAAGG	0.368																																						uc003qpy.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(508-510)GAT>CAT		CNKSR family member 3							52.0	48.0	49.0					6																	154754641		2198	4299	6497	SO:0001630	splice_region_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154754641C>G	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.508-1G>C	6.37:g.154754641C>G							p.D170H	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	5	1013	-		Ovarian(120;0.196)	170			CRIC.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.508G>C	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265376	0.59431	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	T;T	0.59772	0.96;0.24	5.26	5.26	0.73747	CRIC domain (1);CRIC domain, Chordata (1);	0.056834	0.64402	D	0.000002	T	0.70833	0.3269	M	0.68317	2.08	0.58432	D	0.999996	D	0.76494	0.999	D	0.69824	0.966	T	0.73600	-0.3931	10	0.87932	D	0	.	19.2341	0.93851	0.0:1.0:0.0:0.0	.	170	Q6P9H4	CNKR3_HUMAN	H	170;90	ENSP00000356182:D170H;ENSP00000418975:D90H	ENSP00000356182:D170H	D	-	1	0	CNKSR3	154796333	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	6.746000	0.74866	2.630000	0.89119	0.563000	0.77884	GAT		0.368	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2		NM_173515	Missense_Mutation	3	7	0	0	0	0.004672	0	3	7		
MAD1L1	8379	broad.mit.edu	37	7	2269702	2269702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:2269702G>A	ENST00000406869.1	-	3	624	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.Q23*|MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.Q23*|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	23					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)				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)		TCCACACGCTGAGAGATGAAG	0.532																																						uc003slh.1		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(67-69)CAG>TAG		MAD1-like 1 protein							58.0	66.0	63.0					7																	2269702		2007	4179	6186	SO:0001587	stop_gained	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.chr7:2269702G>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.67C>T	7.37:g.2269702G>A	ENSP00000385334:p.Gln23*					MAD1L1_uc003slf.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.Q23*|MAD1L1_uc010ksj.2_Nonsense_Mutation_p.Q23*	p.Q23*	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	3	333	-		Ovarian(82;0.0272)	23					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Nonsense_Mutation	SNP	ENST00000406869.1	37	c.67C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	37	6.125347	0.97305	.	.	ENSG00000002822	ENST00000399654;ENST00000406869;ENST00000265854;ENST00000455998;ENST00000429779	.	.	.	5.6	3.61	0.41365	.	0.180567	0.37809	N	0.001921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-41.7988	9.7228	0.40313	0.0803:0.0:0.7704:0.1494	.	.	.	.	X	23	.	ENSP00000265854:Q23X	Q	-	1	0	MAD1L1	2236228	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.458000	0.60095	1.371000	0.46172	0.655000	0.94253	CAG		0.532	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1		NM_003550		6	12	0	0	0	0.001168	0	6	12		
AIMP2	7965	broad.mit.edu	37	7	6054965	6054965	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:6054965G>C	ENST00000223029.3	+	2	443	c.324G>C	c.(322-324)ttG>ttC	p.L108F	AIMP2_ENST00000400479.2_Missense_Mutation_p.L30F|AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	108	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTGGACTTGAATTCAGTGC	0.458																																						uc003spo.2		NaN																	0				ovary(1)	1						c.(322-324)TTG>TTC		aminoacyl tRNA synthetase complex-interacting							87.0	77.0	80.0					7																	6054965		2203	4300	6503	SO:0001583	missense	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6054965G>C	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.324G>C	7.37:g.6054965G>C	ENSP00000223029:p.Leu108Phe						p.L108F	NM_006303	NP_006294	Q13155	AIMP2_HUMAN			2	437	+			108			Interaction with PARK2.		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	c.324G>C	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504978	0.64410	.	.	ENSG00000106305	ENST00000223029;ENST00000400479	T;T	0.50277	1.2;0.75	5.13	0.493	0.16878	.	0.000000	0.64402	D	0.000001	T	0.60405	0.2266	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.57063	-0.7875	10	0.54805	T	0.06	-11.7971	5.669	0.17711	0.4058:0.1543:0.4399:0.0	.	108	Q13155	AIMP2_HUMAN	F	108;30	ENSP00000223029:L108F;ENSP00000383327:L30F	ENSP00000223029:L108F	L	+	3	2	AIMP2	6021491	0.997000	0.39634	0.876000	0.34364	0.895000	0.52256	0.348000	0.20031	0.060000	0.16281	0.655000	0.94253	TTG		0.458	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2		NM_006303		11	48	0	0	0	0.008291	0	11	48		
DNAH11	8701	broad.mit.edu	37	7	21603941	21603941	+	Missense_Mutation	SNP	C	C	G	rs559771489		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:21603941C>G	ENST00000409508.3	+	6	1151	c.1120C>G	c.(1120-1122)Cat>Gat	p.H374D	DNAH11_ENST00000328843.6_Missense_Mutation_p.H374D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	374	Stem. {ECO:0000250}.				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)			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						GATCTGGAGTCATTCCAAGTT	0.413									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1120-1122)CAT>GAT		dynein, axonemal, heavy chain 11							107.0	97.0	100.0					7																	21603941		1829	4077	5906	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.chr7:21603941C>G	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.1120C>G	7.37:g.21603941C>G	ENSP00000475939:p.His374Asp						p.H374D	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			6	1151	+			374			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1120C>G		.	.	.	.	.	.	.	.	.	.	C	18.91	3.724432	0.68959	.	.	ENSG00000105877	ENST00000328843	T	0.56444	0.46	5.74	5.74	0.90152	Dynein heavy chain, domain-1 (1);	0.054297	0.64402	D	0.000001	T	0.71239	0.3316	M	0.81341	2.54	0.52501	D	0.999959	D	0.60160	0.987	P	0.59115	0.852	T	0.69892	-0.5022	10	0.35671	T	0.21	.	18.6888	0.91576	0.0:1.0:0.0:0.0	.	374	Q96DT5	DYH11_HUMAN	D	374	ENSP00000330671:H374D	ENSP00000330671:H374D	H	+	1	0	DNAH11	21570466	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	1.929000	0.40114	2.707000	0.92482	0.563000	0.77884	CAT		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		7	41	0	0	0	0.001984	0	7	41		
GLI3	2737	broad.mit.edu	37	7	42187951	42187951	+	Missense_Mutation	SNP	C	C	T	rs376725882		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:42187951C>T	ENST00000395925.3	-	3	325	c.241G>A	c.(241-243)Gag>Aag	p.E81K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	81					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGGCCCTCTCGTCACTCGAT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(241-243)GAG>AAG		GLI-Kruppel family member GLI3		C	LYS/GLU	0,4406		0,0,2203	139.0	109.0	119.0		241	5.8	1.0	7		119	3,8597	2.2+/-6.3	0,3,4297	no	missense	GLI3	NM_000168.5	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	81/1581	42187951	3,13003	2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42187951C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.241G>A	7.37:g.42187951C>T	ENSP00000379258:p.Glu81Lys					GLI3_uc011kbg.1_Missense_Mutation_p.E22K	p.E81K	NM_000168	NP_000159	P10071	GLI3_HUMAN			3	332	-			81					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.241G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515310	0.96402	0.0	3.49E-4	ENSG00000106571	ENST00000395925;ENST00000448703	T	0.16457	2.34	5.83	5.83	0.93111	.	0.050739	0.85682	D	0.000000	T	0.26484	0.0647	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.56398	0.797	T	0.00593	-1.1654	10	0.25751	T	0.34	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	81	P10071	GLI3_HUMAN	K	81	ENSP00000379258:E81K	ENSP00000379258:E81K	E	-	1	0	GLI3	42154476	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	7.459000	0.80802	2.757000	0.94681	0.563000	0.77884	GAG		0.552	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		6	36	0	0	0	0.001168	0	6	36		
PKD1L1	168507	broad.mit.edu	37	7	47876633	47876633	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:47876633G>A	ENST00000289672.2	-	37	5879	c.5829C>T	c.(5827-5829)taC>taT	p.Y1943Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1943					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGGCCTGCTGTACACCGACA	0.577																																						uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5827-5829)TAC>TAT		polycystin-1L1							61.0	54.0	57.0					7																	47876633		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47876633G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5829C>T	7.37:g.47876633G>A							p.Y1943Y	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			37	5829	-			1943			Cytoplasmic (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5829C>T	CCDS34633.1																																																																																				0.577	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		3	43	0	0	0	0.009096	0	3	43		
ZNF273	10793	broad.mit.edu	37	7	64363703	64363703	+	Missense_Mutation	SNP	C	C	T	rs200154438		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:64363703C>T	ENST00000476120.1	+	1	79	c.8C>T	c.(7-9)tCt>tTt	p.S3F	ZNF273_ENST00000545510.1_5'UTR|ZNF273_ENST00000319636.5_5'UTR|ZNF273_ENST00000527278.1_Intron	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTATGTCCTCTGCTCCTAGA	0.592																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	uc003tto.2		NaN																	0					0						c.(7-9)TCT>TTT		zinc finger protein 273							56.0	56.0	56.0					7																	64363703		2203	4300	6503	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64363703C>T	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.8C>T	7.37:g.64363703C>T	ENSP00000418719:p.Ser3Phe					ZNF273_uc003ttl.2_Intron|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	p.S3F	NM_021148	NP_066971	Q14593	ZN273_HUMAN			1	84	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	3					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.8C>T	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	6.353	0.433184	0.12045	.	.	ENSG00000198039	ENST00000476120	T	0.07327	3.2	0.158	0.158	0.14942	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.20307	N	0.999916	P	0.46064	0.872	B	0.29176	0.099	T	0.42120	-0.9470	8	0.87932	D	0	.	.	.	.	.	3	Q14593	ZN273_HUMAN	F	3	ENSP00000418719:S3F	ENSP00000433382:S3F	S	+	2	0	ZNF273	64001138	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.421000	0.21280	0.202000	0.20498	0.205000	0.17691	TCT		0.592	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1				13	37	0	0	0	0.013537	0	13	37		
DNAJC30	84277	broad.mit.edu	37	7	73097498	73097498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:73097498C>T	ENST00000395176.2	-	1	285	c.256G>A	c.(256-258)Gag>Aag	p.E86K	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	86	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						TCGGCGGCCTCCGCGCTCCCG	0.662																																						uc003tys.1		NaN																	0					0						c.(256-258)GAG>AAG		DnaJ (Hsp40) homolog subfamily C member 30							56.0	67.0	63.0					7																	73097498		2199	4298	6497	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097498C>T	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.256G>A	7.37:g.73097498C>T	ENSP00000378605:p.Glu86Lys					WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	p.E86K	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN			1	284	-			86			J.		Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.256G>A	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401225	0.42613	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.77358	-1.09	5.05	4.17	0.49024	Heat shock protein DnaJ, N-terminal (5);	0.453402	0.21583	N	0.072211	T	0.69324	0.3098	L	0.43152	1.355	0.80722	D	1	B	0.18461	0.028	B	0.17433	0.018	T	0.64411	-0.6414	10	0.33141	T	0.24	-15.9627	11.4785	0.50312	0.0:0.9125:0.0:0.0875	.	86	Q96LL9	DJC30_HUMAN	K	86;83	ENSP00000378605:E86K	ENSP00000378605:E86K	E	-	1	0	DNAJC30	72735434	1.000000	0.71417	0.999000	0.59377	0.172000	0.22775	4.900000	0.63252	1.357000	0.45904	-0.143000	0.13931	GAG		0.662	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2				20	70	0	0	0	0.008871	0	20	70		
PCLO	27445	broad.mit.edu	37	7	82544005	82544005	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:82544005C>G	ENST00000333891.9	-	7	13634	c.13297G>C	c.(13297-13299)Gaa>Caa	p.E4433Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E4433Q|PCLO_ENST00000437081.1_Missense_Mutation_p.E1153Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATTTACCTTCACTGTCTGAC	0.418																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(13297-13299)GAA>CAA		piccolo isoform 1							61.0	58.0	59.0					7																	82544005		1962	4159	6121	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544005C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13297G>C	7.37:g.82544005C>G	ENSP00000334319:p.Glu4433Gln					PCLO_uc003uhv.2_Missense_Mutation_p.E4433Q|PCLO_uc010lec.2_Missense_Mutation_p.E1398Q	p.E4433Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13586	-			4364						Missense_Mutation	SNP	ENST00000333891.9	37	c.13297G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766480	0.69878	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.28454	1.61;1.62	5.75	5.75	0.90469	.	.	.	.	.	T	0.59542	0.2201	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.61103	-0.7130	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	4364;4433;4433	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	4433;4433;1153	ENSP00000334319:E4433Q;ENSP00000388393:E4433Q	ENSP00000334319:E4433Q	E	-	1	0	PCLO	82381941	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GAA		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		5	20	0	0	0	0.000602	0	5	20		
CDK14	5218	broad.mit.edu	37	7	90741917	90741917	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:90741917G>C	ENST00000380050.3	+	13	1346	c.1215G>C	c.(1213-1215)aaG>aaC	p.K405N	CDK14_ENST00000436577.2_Missense_Mutation_p.K276N|CDK14_ENST00000265741.3_Missense_Mutation_p.K387N|CDK14_ENST00000406263.1_Missense_Mutation_p.K359N			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GTTCCCCAAAGAACAGACTGT	0.502																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NaN																	0				lung(3)|ovary(1)	4						c.(1213-1215)AAG>AAC		PFTAIRE protein kinase 1							107.0	104.0	105.0					7																	90741917		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90741917G>C		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1215G>C	7.37:g.90741917G>C	ENSP00000369390:p.Lys405Asn					CDK14_uc003ukz.1_Missense_Mutation_p.K387N|CDK14_uc010les.1_Missense_Mutation_p.K359N|CDK14_uc011khl.1_Missense_Mutation_p.K276N	p.K405N	NM_012395	NP_036527	O94921	CDK14_HUMAN			13	1437	+			405			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.1215G>C		.	.	.	.	.	.	.	.	.	.	G	23.8	4.454980	0.84209	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	N	0.11724	0.165	0.80722	D	1	D;P;D	0.62365	0.991;0.838;0.991	D;B;D	0.78314	0.991;0.352;0.991	T	0.64879	-0.6303	10	0.28530	T	0.3	-14.6439	20.6593	0.99626	0.0:0.0:1.0:0.0	.	276;387;405	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	N	405;387;359;276	ENSP00000369390:K405N;ENSP00000265741:K387N;ENSP00000385034:K359N;ENSP00000398936:K276N	ENSP00000265741:K387N	K	+	3	2	CDK14	90579853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.001000	0.76297	2.885000	0.99019	0.655000	0.94253	AAG		0.502	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5		NM_012395		4	112	0	0	0	0.009096	0	4	112		
ATP5J2	9551	broad.mit.edu	37	7	99057790	99057790	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:99057790C>G	ENST00000292475.3	-	2	247	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000544611.1_Missense_Mutation_p.E14Q|ATP5J2_ENST00000449683.1_Missense_Mutation_p.E24Q|ATP5J2_ENST00000394186.3_Missense_Mutation_p.E14Q|ATP5J2_ENST00000488775.1_Missense_Mutation_p.E14Q|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000359832.4_Missense_Mutation_p.E20Q|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.E14Q|PTCD1_ENST00000555673.1_Missense_Mutation_p.E14Q	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	20					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGTTTGACCTCCAGAAGTTTC	0.483																																						uc011kiw.1		NaN																	0				ovary(1)	1						c.(40-42)GAG>CAG		pentatricopeptide repeat domain 1							130.0	143.0	139.0					7																	99057790		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99057790C>G	AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	848	protein-coding gene	gene with protein product	"""F1Fo-ATPase synthase f subunit"", ""ATP synthase f chain, mitochondrial"", ""F1Fo-ATP synthase complex Fo membrane domain f subunit"""		"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"""			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.58G>C	7.37:g.99057790C>G	ENSP00000292475:p.Glu20Gln					ATP5J2_uc003uql.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqm.2_Missense_Mutation_p.E20Q|ATP5J2_uc003uqn.2_Missense_Mutation_p.E14Q|ATP5J2_uc003uqo.2_Missense_Mutation_p.E20Q	p.E14Q	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	84	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		Error:Variant_position_missing_in_O75127_after_alignment					C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	ENST00000292475.3	37	c.40G>C	CCDS5665.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541592	0.65085	.	.	ENSG00000106246;ENSG00000248919;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468	ENST00000555673;ENST00000413834;ENST00000449683;ENST00000359832;ENST00000292475;ENST00000544611;ENST00000488775;ENST00000394186	T;T;T;T	0.66815	-0.23;-0.23;2.53;2.53	5.07	3.23	0.37069	.	0.490245	0.19915	N	0.103217	T	0.55970	0.1954	L	0.49126	1.545	0.26914	N	0.966828	P;P;B;B;B	0.41265	0.744;0.61;0.237;0.097;0.162	B;B;B;B;B	0.35971	0.211;0.215;0.156;0.196;0.153	T	0.55108	-0.8192	10	0.39692	T	0.17	.	11.4144	0.49943	0.0:0.8623:0.0:0.1377	.	14;20;14;20;14	G3V325;F8W7V3;C9J8H9;P56134;P56134-2	.;.;.;ATPK_HUMAN;.	Q	14;14;24;20;20;14;14;14	ENSP00000450995:E14Q;ENSP00000400168:E14Q;ENSP00000407540:E24Q;ENSP00000377740:E14Q	ENSP00000292475:E20Q	E	-	1	0	ATP5J2;ATP5J2-PTCD1;PTCD1	98895726	1.000000	0.71417	0.921000	0.36526	0.864000	0.49448	3.290000	0.51755	2.376000	0.81061	0.462000	0.41574	GAG		0.483	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1		NM_004889		30	157	0	0	0	0.009535	0	30	157		
RELN	5649	broad.mit.edu	37	7	103322663	103322663	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:103322663C>T	ENST00000428762.1	-	11	1348	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	RELN_ENST00000343529.5_Missense_Mutation_p.E397K|RELN_ENST00000424685.2_Missense_Mutation_p.E397K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	397					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGCTGCCTTCATTTCCATGG	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1189-1191)GAA>AAA		reelin isoform a							144.0	136.0	138.0					7																	103322663		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322663C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1189G>A	7.37:g.103322663C>T	ENSP00000392423:p.Glu397Lys					RELN_uc010liz.2_Missense_Mutation_p.E397K	p.E397K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1349	-			397					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1189G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869201	0.91587	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26067	1.76;1.76;1.76	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	L	0.27053	0.805	0.58432	D	0.999997	P;P	0.52842	0.939;0.956	P;D	0.65010	0.503;0.931	T	0.14783	-1.0460	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	397;397	P78509-2;P78509	.;RELN_HUMAN	K	397	ENSP00000392423:E397K;ENSP00000345694:E397K;ENSP00000388446:E397K	ENSP00000345694:E397K	E	-	1	0	RELN	103109899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.807000	0.75201	2.861000	0.98227	0.655000	0.94253	GAA		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		4	88	0	0	0	0.001984	0	4	88		
SLC26A3	1811	broad.mit.edu	37	7	107408296	107408296	+	Missense_Mutation	SNP	G	G	A	rs561848464		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:107408296G>A	ENST00000340010.5	-	19	2304	c.2120C>T	c.(2119-2121)tCa>tTa	p.S707L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S594L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	707	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAAAAATATTGAGCTTTTCAC	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		17195	0.0		0.0	False		,,,				2504	0.001					uc003ver.2		NaN																	0				ovary(3)|skin(1)	4						c.(2119-2121)TCA>TTA		solute carrier family 26, member 3							96.0	98.0	97.0					7																	107408296		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107408296G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2120C>T	7.37:g.107408296G>A	ENSP00000345873:p.Ser707Leu					SLC26A3_uc003ves.2_Missense_Mutation_p.S594L	p.S707L	NM_000111	NP_000102	P40879	S26A3_HUMAN			19	2331	-			707			Helical; (Potential).|STAS.			Missense_Mutation	SNP	ENST00000340010.5	37	c.2120C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057362	0.55325	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.88818	-2.43;-2.43	5.1	5.1	0.69264	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.199720	0.45126	D	0.000381	D	0.93539	0.7938	M	0.65677	2.01	0.28130	N	0.930245	D;D	0.76494	0.997;0.999	P;D	0.76575	0.844;0.988	D	0.88512	0.3090	10	0.45353	T	0.12	.	17.6914	0.88269	0.0:0.0:1.0:0.0	.	594;707	G5E9U3;P40879	.;S26A3_HUMAN	L	594;707	ENSP00000415817:S594L;ENSP00000345873:S707L	ENSP00000345873:S707L	S	-	2	0	SLC26A3	107195532	1.000000	0.71417	0.953000	0.39169	0.203000	0.24098	6.858000	0.75461	2.642000	0.89623	0.467000	0.42956	TCA		0.323	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1		NM_000111		8	26	0	0	0	0.00308	0	8	26		
PPP1R3A	5506	broad.mit.edu	37	7	113558970	113558970	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:113558970C>T	ENST00000284601.3	-	1	150	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	28					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTTCTTCATCTTCACAAAGA	0.398																																						uc010ljy.1		NaN																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(82-84)GAT>AAT		protein phosphatase 1, regulatory (inhibitor)							71.0	74.0	73.0					7																	113558970		2202	4298	6500	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558970C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.82G>A	7.37:g.113558970C>T	ENSP00000284601:p.Asp28Asn						p.D28N	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	113	-			28					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.82G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951387	0.92660	.	.	ENSG00000154415	ENST00000284601	T	0.26067	1.76	6.17	6.17	0.99709	.	0.063949	0.64402	D	0.000012	T	0.55832	0.1945	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53143	-0.8480	10	0.72032	D	0.01	-0.0861	20.8794	0.99867	0.0:1.0:0.0:0.0	.	28	Q16821	PPR3A_HUMAN	N	28	ENSP00000284601:D28N	ENSP00000284601:D28N	D	-	1	0	PPP1R3A	113346206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.206000	0.77891	2.941000	0.99782	0.655000	0.94253	GAT		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		NM_002711		21	56	0	0	0	0.014323	0	21	56		
TES	26136	broad.mit.edu	37	7	115890320	115890320	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:115890320G>A	ENST00000358204.4	+	4	687	c.472G>A	c.(472-474)Gac>Aac	p.D158N	AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.D149N|TES_ENST00000537767.1_Intron|AC002066.1_ENST00000446355.2_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	158	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CCCTGCACATGACCAGGACCC	0.532																																						uc003vho.2		NaN																	0					0						c.(472-474)GAC>AAC		testin isoform 1							90.0	85.0	87.0					7																	115890320		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115890320G>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.472G>A	7.37:g.115890320G>A	ENSP00000350937:p.Asp158Asn					TES_uc011kmy.1_Intron|TES_uc003vhp.2_Missense_Mutation_p.D149N|uc003vhq.1_5'Flank	p.D158N	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		4	653	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	158			PET.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.472G>A	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443202	0.96187	.	.	ENSG00000135269	ENST00000358204;ENST00000455989;ENST00000257721;ENST00000393481	D;D;D	0.94537	-3.45;-3.45;-3.45	5.49	5.49	0.81192	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.97879	0.9303	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98354	1.0545	10	0.87932	D	0	-5.9701	19.7347	0.96198	0.0:0.0:1.0:0.0	.	158	Q9UGI8	TES_HUMAN	N	158;73;158;149	ENSP00000350937:D158N;ENSP00000413002:D73N;ENSP00000377121:D149N	ENSP00000257721:D158N	D	+	1	0	TES	115677556	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	9.568000	0.98166	2.746000	0.94184	0.655000	0.94253	GAC		0.532	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2		NM_015641		9	53	0	0	0	0.004482	0	9	53		
TAS2R16	50833	broad.mit.edu	37	7	122635437	122635437	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:122635437G>A	ENST00000249284.2	-	1	317	c.252C>T	c.(250-252)acC>acT	p.T84T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	84					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAATTCCCAGGTGATTGTTA	0.398																																						uc003vkl.1		NaN																	0				ovary(1)|skin(1)	2						c.(250-252)ACC>ACT		taste receptor T2R16							57.0	60.0	59.0					7																	122635437		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635437G>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.252C>T	7.37:g.122635437G>A							p.T84T	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	318	-			84			Extracellular (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.252C>T	CCDS5785.1																																																																																				0.398	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1		NM_016945		7	30	0	0	0	0.001984	0	7	30		
NRF1	4899	broad.mit.edu	37	7	129394931	129394931	+	Silent	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:129394931G>A	ENST00000393232.1	+	11	1539	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	NRF1_ENST00000311967.2_Silent_p.Q493Q|RNA5SP244_ENST00000390936.1_RNA|NRF1_ENST00000393231.3_Silent_p.Q493Q|NRF1_ENST00000353868.4_Silent_p.Q408Q|NRF1_ENST00000393230.2_Silent_p.Q474Q|NRF1_ENST00000223190.4_Silent_p.Q474Q|NRF1_ENST00000539636.1_Silent_p.Q313Q	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	474	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGTGCAGGTGGCCATGG	0.592																																						uc003voz.2		NaN																	0				ovary(1)	1						c.(1420-1422)CAG>CAA		nuclear respiratory factor 1							105.0	79.0	88.0					7																	129394931		2203	4300	6503	SO:0001819	synonymous_variant	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129394931G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1422G>A	7.37:g.129394931G>A						NRF1_uc003vpa.2_Silent_p.Q493Q|NRF1_uc011kpa.1_Silent_p.Q313Q|NRF1_uc003vpb.2_Silent_p.Q474Q	p.Q474Q	NM_005011	NP_005002	Q16656	NRF1_HUMAN			11	1539	+			474			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP	ENST00000393232.1	37	c.1422G>A	CCDS5813.2																																																																																				0.592	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1		NM_001040110		10	42	0	0	0	0.006214	0	10	42		
CLCN1	1180	broad.mit.edu	37	7	143039095	143039095	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:143039095G>C	ENST00000343257.2	+	15	1743	c.1656G>C	c.(1654-1656)caG>caC	p.Q552H		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	552			Q -> R (in MCD, MCR and in myotonia levior). {ECO:0000269|PubMed:7581380}.		chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.Q552Q(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TAACGGGTCAGATTGCTCACA	0.532																																						uc003wcr.1		NaN																	1	Substitution - coding silent(1)		stomach(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1654-1656)CAG>CAC		chloride channel 1, skeletal muscle							181.0	136.0	151.0					7																	143039095		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143039095G>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1656G>C	7.37:g.143039095G>C	ENSP00000339867:p.Gln552His					CLCN1_uc011ktc.1_Missense_Mutation_p.Q164H	p.Q552H	NM_000083	NP_000074	P35523	CLCN1_HUMAN			15	1743	+	Melanoma(164;0.205)		552		Q -> R (in THD, MCR and in myotonia levior).			A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1656G>C	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061017	0.76074	.	.	ENSG00000188037	ENST00000343257	D	0.93019	-3.15	5.91	5.04	0.67666	Chloride channel, core (2);	0.051342	0.85682	N	0.000000	D	0.95812	0.8637	M	0.67517	2.055	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.95910	0.8922	10	0.66056	D	0.02	.	12.9653	0.58481	0.1335:0.0:0.8665:0.0	.	552	P35523	CLCN1_HUMAN	H	552	ENSP00000339867:Q552H	ENSP00000339867:Q552H	Q	+	3	2	CLCN1	142749217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.517000	0.60503	1.528000	0.49103	0.643000	0.83706	CAG		0.532	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1		NM_000083		23	45	0	0	0	0.00333	0	23	45		
SGK223	157285	broad.mit.edu	37	8	8175696	8175697	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:8175696_8175697TC>AT	ENST00000520004.1	-	6	4452_4453	c.4188_4189GA>AT	c.(4186-4191)ctGAag>ctATag	p.K1397*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.K1397*			Q86YV5	SG223_HUMAN		0							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGCAGGAGCTTCAGCGACTGTA	0.658																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	0					0						c.(4186-4191)CTGAAG>CTATAG		pragmin																																				SO:0001587	stop_gained	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175696_8175697TC>AT																												ENST00000520004.1:c.4188_4189delinsAT	8.37:g.8175696_8175697delinsAT	ENSP00000428054:p.Lys1397*						p.K1397*	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			5	4188_4189	-			1397					Q8N3N5	Nonsense_Mutation	DNP	ENST00000520004.1	37	c.4188_4189GA>AT	CCDS43706.1																																																																																				0.658	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				8	29	0	0	0	0.004672	0	8	29		
SLC7A2	6542	broad.mit.edu	37	8	17401171	17401171	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:17401171G>C	ENST00000494857.1	+	3	541	c.323G>C	c.(322-324)gGa>gCa	p.G108A	SLC7A2_ENST00000470360.1_Missense_Mutation_p.G148A|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G108A|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G148A|SLC7A2_ENST00000398090.3_Missense_Mutation_p.G148A	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	108					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGACTGTCGGAGAGCTGTGG	0.493																																						uc011kyc.1		NaN																	0				ovary(2)|skin(1)	3						c.(322-324)GGA>GCA		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						111.0	98.0	102.0					8																	17401171		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17401171G>C	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.323G>C	8.37:g.17401171G>C	ENSP00000419140:p.Gly108Ala					SLC7A2_uc011kyd.1_Missense_Mutation_p.G148A|SLC7A2_uc011kye.1_Missense_Mutation_p.G148A|SLC7A2_uc011kyf.1_Missense_Mutation_p.G108A	p.G108A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	492	+			108			Helical; (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.323G>C	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877359	0.72294	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	5.64	4.76	0.60689	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	H	0.99863	4.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99876	1.1104	10	0.87932	D	0	.	16.9733	0.86306	0.0:0.1277:0.8723:0.0	.	148;148;108	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	A	108;108;148;148;148	ENSP00000419140:G108A;ENSP00000430464:G108A;ENSP00000419873:G148A;ENSP00000004531:G148A;ENSP00000381164:G148A	ENSP00000004531:G148A	G	+	2	0	SLC7A2	17445550	1.000000	0.71417	0.960000	0.40013	0.524000	0.34500	9.823000	0.99369	1.521000	0.48983	0.655000	0.94253	GGA		0.493	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3		NM_003046		18	28	0	0	0	0.008871	0	18	28		
KCNU1	157855	broad.mit.edu	37	8	36642013	36642013	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:36642013C>T	ENST00000399881.3	+	1	122	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	29					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.L29I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTCATTCTCTCTTCCTT	0.423																																						uc010lvw.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(85-87)CTC>TTC		potassium channel, subfamily U, member 1							168.0	157.0	160.0					8																	36642013		1961	4151	6112	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36642013C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.85C>T	8.37:g.36642013C>T	ENSP00000382770:p.Leu29Phe					KCNU1_uc003xjw.2_RNA	p.L29F	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	1	172	+			29			Helical; Name=Segment S0; (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.85C>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390858	0.42410	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.35973	1.32;1.28	5.49	3.67	0.42095	.	.	.	.	.	T	0.32041	0.0816	L	0.60455	1.87	0.80722	D	1	B	0.32829	0.386	B	0.29353	0.101	T	0.24119	-1.0169	9	0.66056	D	0.02	.	9.0731	0.36504	0.0:0.821:0.0:0.179	.	29	A8MYU2	KCNU1_HUMAN	F	29	ENSP00000429951:L29F;ENSP00000382770:L29F	ENSP00000382770:L29F	L	+	1	0	KCNU1	36761171	0.991000	0.36638	0.951000	0.38953	0.079000	0.17450	0.700000	0.25601	1.455000	0.47813	0.650000	0.86243	CTC		0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		5	37	0	0	0	0.000602	0	5	37		
RAB11FIP1	80223	broad.mit.edu	37	8	37729403	37729403	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37729403C>G	ENST00000330843.4	-	4	2929	c.2917G>C	c.(2917-2919)Gat>Cat	p.D973H	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCAACCTGATCTATTCTTTCA	0.458																																						uc003xkm.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2917-2919)GAT>CAT		RAB11 family interacting protein 1 isoform 3							155.0	126.0	136.0					8																	37729403		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729403C>G	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2917G>C	8.37:g.37729403C>G	ENSP00000331342:p.Asp973His					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xko.1_Missense_Mutation_p.D302H|RAB11FIP1_uc003xkp.1_Intron	p.D973H	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2961	-		Lung NSC(58;0.118)|all_lung(54;0.195)	973					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.2917G>C	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394234	0.42410	.	.	ENSG00000156675	ENST00000330843	T	0.18338	2.22	5.08	5.08	0.68730	.	0.110392	0.40064	N	0.001188	T	0.28632	0.0709	L	0.32530	0.975	0.33134	D	0.543496	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.936	T	0.27640	-1.0068	10	0.51188	T	0.08	-14.8059	11.2208	0.48853	0.0:0.912:0.0:0.088	.	302;973	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	H	973	ENSP00000331342:D973H	ENSP00000331342:D973H	D	-	1	0	RAB11FIP1	37848561	0.929000	0.31497	0.234000	0.24042	0.354000	0.29330	1.994000	0.40757	2.362000	0.80069	0.655000	0.94253	GAT		0.458	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		10	67	0	0	0	0.006214	0	10	67		
RAB11FIP1	80223	broad.mit.edu	37	8	37729766	37729766	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37729766C>G	ENST00000330843.4	-	4	2566	c.2554G>C	c.(2554-2556)Gag>Cag	p.E852Q	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	852					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCAGGAGGCTCTCCGTCAGAC	0.637																																						uc003xkm.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2554-2556)GAG>CAG		RAB11 family interacting protein 1 isoform 3							50.0	52.0	51.0					8																	37729766		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729766C>G	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2554G>C	8.37:g.37729766C>G	ENSP00000331342:p.Glu852Gln					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E181Q|RAB11FIP1_uc003xkp.1_Intron	p.E852Q	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2598	-		Lung NSC(58;0.118)|all_lung(54;0.195)	852					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.2554G>C	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.428244	0.25726	.	.	ENSG00000156675	ENST00000330843	T	0.15139	2.45	5.15	2.3	0.28687	.	0.873699	0.09753	N	0.760303	T	0.08537	0.0212	N	0.12182	0.205	0.09310	N	1	P;B	0.41102	0.738;0.046	B;B	0.38562	0.276;0.017	T	0.20371	-1.0277	10	0.22706	T	0.39	-8.2639	5.3402	0.15979	0.0:0.655:0.1845:0.1604	.	181;852	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	Q	852	ENSP00000331342:E852Q	ENSP00000331342:E852Q	E	-	1	0	RAB11FIP1	37848924	0.003000	0.15002	0.004000	0.12327	0.046000	0.14306	0.515000	0.22801	1.151000	0.42436	0.655000	0.94253	GAG		0.637	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		7	40	0	0	0	0.006214	0	7	40		
RAB11FIP1	80223	broad.mit.edu	37	8	37730228	37730228	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:37730228C>G	ENST00000330843.4	-	4	2104	c.2092G>C	c.(2092-2094)Gaa>Caa	p.E698Q	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	698					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGCCCTGTTTCAGGCTGCTCT	0.527																																						uc003xkm.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2092-2094)GAA>CAA		RAB11 family interacting protein 1 isoform 3							95.0	92.0	93.0					8																	37730228		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730228C>G	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2092G>C	8.37:g.37730228C>G	ENSP00000331342:p.Glu698Gln					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.E27Q|RAB11FIP1_uc003xkp.1_Intron	p.E698Q	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2136	-		Lung NSC(58;0.118)|all_lung(54;0.195)	698					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.2092G>C	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910732	0.33721	.	.	ENSG00000156675	ENST00000330843	T	0.12774	2.65	4.42	1.3	0.21679	.	0.680734	0.12720	N	0.444828	T	0.09774	0.0240	N	0.19112	0.55	0.09310	N	1	P;B	0.49635	0.926;0.421	P;B	0.49361	0.608;0.075	T	0.19063	-1.0317	10	0.13853	T	0.58	-0.0328	4.4025	0.11393	0.0:0.5835:0.1808:0.2357	.	27;698	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	Q	698	ENSP00000331342:E698Q	ENSP00000331342:E698Q	E	-	1	0	RAB11FIP1	37849386	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.188000	0.09642	0.229000	0.21039	-0.345000	0.07892	GAA		0.527	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		11	43	0	0	0	0.010729	0	11	43		
ADAM2	2515	broad.mit.edu	37	8	39613416	39613416	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:39613416C>G	ENST00000265708.4	-	16	1731	c.1628G>C	c.(1627-1629)gGa>gCa	p.G543A	ADAM2_ENST00000347580.4_Missense_Mutation_p.G524A|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron|AC136365.1_ENST00000408091.1_RNA	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	543	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G543E(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATTAATTTTCCGCACTGCAG	0.244																																						uc003xnj.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)|lung(1)	2						c.(1627-1629)GGA>GCA		ADAM metallopeptidase domain 2 proprotein							43.0	48.0	46.0					8																	39613416		2201	4298	6499	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613416C>G	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1628G>C	8.37:g.39613416C>G	ENSP00000265708:p.Gly543Ala					ADAM2_uc003xnk.2_Missense_Mutation_p.G524A|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	p.G543A	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1703	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	543			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1628G>C	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668892	0.29604	.	.	ENSG00000104755	ENST00000347580;ENST00000265708	T;T	0.68025	-0.3;-0.3	4.8	3.92	0.45320	ADAM, cysteine-rich (2);	.	.	.	.	D	0.84302	0.5442	H	0.94964	3.605	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.72982	0.965;0.979	D	0.86037	0.1517	8	.	.	.	.	9.1054	0.36694	0.0:0.8972:0.0:0.1028	.	524;543	Q99965-2;Q99965	.;ADAM2_HUMAN	A	524;543	ENSP00000343854:G524A;ENSP00000265708:G543A	.	G	-	2	0	ADAM2	39732573	1.000000	0.71417	0.997000	0.53966	0.109000	0.19521	1.701000	0.37825	1.133000	0.42147	0.655000	0.94253	GGA		0.244	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1		NM_001464		8	54	0	0	0	0.00308	0	8	54		
RUNX1T1	862	broad.mit.edu	37	8	92972521	92972521	+	Silent	SNP	C	C	T	rs144186445		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:92972521C>T	ENST00000523629.1	-	12	2218	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P	RUNX1T1_ENST00000436581.2_Silent_p.P599P|RUNX1T1_ENST00000518844.1_Silent_p.P561P|RUNX1T1_ENST00000396218.1_Silent_p.P561P|RUNX1T1_ENST00000265814.3_Silent_p.P588P|RUNX1T1_ENST00000520724.1_Silent_p.P551P|RUNX1T1_ENST00000422361.2_Silent_p.P551P|RUNX1T1_ENST00000360348.2_Silent_p.P551P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	588					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGTTGACCTCGGAGTGGCTG	0.612																																						uc003yfd.2		NaN																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1762-1764)CCG>CCA		acute myelogenous leukemia 1 translocation 1		C	,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	77.0	52.0	61.0		1683,1764,1764,1764,1764,1764,1764,1683,1704,1797,1941,1683,1764,1653,1653	1.1	1.0	8	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RUNX1T1	NM_001198625.1,NM_001198626.1,NM_001198627.1,NM_001198628.1,NM_001198629.1,NM_001198630.1,NM_001198631.1,NM_001198632.1,NM_001198633.1,NM_001198634.1,NM_001198679.1,NM_004349.3,NM_175634.2,NM_175635.2,NM_175636.2	,,,,,,,,,,,,,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,,,,,,,,,,,,,	561/578,588/605,588/605,588/605,588/605,588/605,588/605,561/578,568/585,599/616,647/664,561/578,588/605,551/568,551/568	92972521	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972521C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1764G>A	8.37:g.92972521C>T						RUNX1T1_uc003yfc.1_Silent_p.P561P|RUNX1T1_uc003yfe.1_Silent_p.P551P|RUNX1T1_uc010mao.2_Silent_p.P561P|RUNX1T1_uc011lgi.1_Silent_p.P599P|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Silent_p.P213P|RUNX1T1_uc003yfb.1_Silent_p.P551P	p.P588P	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1848	-			588					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.1764G>A	CCDS6256.1																																																																																				0.612	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3		NM_004349, NM_175635		4	12	0	0	0	0.009096	0	4	12		
FBXO43	286151	broad.mit.edu	37	8	101149855	101149855	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:101149855G>C	ENST00000428847.2	-	3	1928	c.1612C>G	c.(1612-1614)Caa>Gaa	p.Q538E		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	538	F-box.				meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTTTATCTTGAACAACAATT	0.299																																						uc003yjd.2		NaN																	0				kidney(1)|skin(1)	2						c.(1612-1614)CAA>GAA		F-box protein 43 isoform b							121.0	111.0	114.0					8																	101149855		1812	4074	5886	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101149855G>C	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1612C>G	8.37:g.101149855G>C	ENSP00000403293:p.Gln538Glu					FBXO43_uc003yje.2_Missense_Mutation_p.Q504E|FBXO43_uc010mbp.1_Missense_Mutation_p.Q538E	p.Q538E	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		3	2325	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		538			F-box.			Missense_Mutation	SNP	ENST00000428847.2	37	c.1612C>G	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752619	0.69533	.	.	ENSG00000156509	ENST00000428847	T	0.52983	0.64	5.77	5.77	0.91146	.	0.180839	0.48767	D	0.000169	T	0.59348	0.2187	L	0.52266	1.64	0.39173	D	0.962623	D;P	0.76494	0.999;0.881	D;B	0.63283	0.913;0.322	T	0.55477	-0.8135	10	0.33141	T	0.24	-13.24	14.5261	0.67890	0.07:0.0:0.93:0.0	.	504;538	C9J908;Q4G163	.;FBX43_HUMAN	E	538	ENSP00000403293:Q538E	ENSP00000403293:Q538E	Q	-	1	0	FBXO43	101219031	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.372000	0.59530	2.885000	0.99019	0.655000	0.94253	CAA		0.299	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918		15	28	0	0	0	0.004007	0	15	28		
ABRA	137735	broad.mit.edu	37	8	107782327	107782327	+	Missense_Mutation	SNP	C	C	G	rs148182297		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:107782327C>G	ENST00000311955.3	-	1	146	c.92G>C	c.(91-93)cGa>cCa	p.R31P		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTGCCAACCTCGGGCCAAGCT	0.647																																						uc003ymm.3		NaN																	0				ovary(2)	2						c.(91-93)CGA>CCA		actin-binding Rho activating protein							62.0	66.0	64.0					8																	107782327		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782327C>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.92G>C	8.37:g.107782327C>G	ENSP00000311436:p.Arg31Pro						p.R31P	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	146	-			31						Missense_Mutation	SNP	ENST00000311955.3	37	c.92G>C	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847503	0.71603	.	.	ENSG00000174429	ENST00000311955	D	0.92647	-3.08	5.66	4.79	0.61399	.	0.183655	0.47093	D	0.000245	D	0.93631	0.7966	L	0.59436	1.845	0.47065	D	0.999301	D	0.59357	0.985	P	0.59948	0.866	D	0.93695	0.7010	10	0.87932	D	0	-3.5289	10.9985	0.47591	0.0:0.8571:0.0:0.1429	.	31	Q8N0Z2	ABRA_HUMAN	P	31	ENSP00000311436:R31P	ENSP00000311436:R31P	R	-	2	0	ABRA	107851503	0.990000	0.36364	0.992000	0.48379	0.983000	0.72400	1.590000	0.36654	1.376000	0.46267	0.655000	0.94253	CGA		0.647	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1		NM_139166		8	83	0	0	0	0.008291	0	8	83		
ZNF696	79943	broad.mit.edu	37	8	144377992	144377992	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr8:144377992C>A	ENST00000330143.3	+	3	556	c.147C>A	c.(145-147)gcC>gcA	p.A49A		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGGAGCCTGCCGCAGAGGCAG	0.672																																						uc003yxy.3		NaN																	0					0						c.(145-147)GCC>GCA		zinc finger protein 696																																				SO:0001819	synonymous_variant	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144377992C>A	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.147C>A	8.37:g.144377992C>A							p.A49A	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	556	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		49					A0AVE2	Silent	SNP	ENST00000330143.3	37	c.147C>A	CCDS6399.1																																																																																				0.672	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2		NM_030895		2	3	1	0	0.004672	0.004672	0.00485041	2	3		
IFNA7	3444	broad.mit.edu	37	9	21202054	21202054	+	Silent	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:21202054G>C	ENST00000239347.3	-	1	150	c.111C>G	c.(109-111)gcC>gcG	p.A37A		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	37					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGTATCAAGGCCCTCCTAT	0.502																																						uc003zop.1		NaN																	0					0						c.(109-111)GCC>GCG		interferon, alpha 7 precursor							109.0	107.0	108.0					9																	21202054		2203	4298	6501	SO:0001819	synonymous_variant	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21202054G>C		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.111C>G	9.37:g.21202054G>C						IFNA14_uc003zoo.1_Intron	p.A37A	NM_021057	NP_066401	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	151	-			37					Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	c.111C>G	CCDS34995.1																																																																																				0.502	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1		NM_021057		22	121	0	0	0	0.00333	0	22	121		
MURC	347273	broad.mit.edu	37	9	103348453	103348453	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:103348453G>A	ENST00000307584.5	+	2	880	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTTAAGATGCGCAGCCTCAGG	0.537																																						uc004bba.2		NaN																	0				ovary(1)	1						c.(814-816)CGC>CAC		muscle-related coiled-coil protein							102.0	107.0	105.0					9																	103348453		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348453G>A	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.815G>A	9.37:g.103348453G>A	ENSP00000418668:p.Arg272His						p.R272H	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			2	905	+		Acute lymphoblastic leukemia(62;0.0461)	272					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.815G>A	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046415	0.36085	.	.	ENSG00000170681	ENST00000307584	T	0.63580	-0.05	5.44	-0.384	0.12474	.	0.409242	0.26109	N	0.026293	T	0.32941	0.0846	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.11084	-1.0602	10	0.41790	T	0.15	0.0652	4.1553	0.10258	0.3603:0.3259:0.3139:0.0	.	272	Q5BKX8	MURC_HUMAN	H	272	ENSP00000418668:R272H	ENSP00000418668:R272H	R	+	2	0	MURC	102388274	0.021000	0.18746	0.078000	0.20375	0.739000	0.42172	0.125000	0.15749	0.074000	0.16767	0.561000	0.74099	CGC		0.537	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2		NM_001018116		25	104	0	0	0	0.00632	0	25	104		
GRIN3A	116443	broad.mit.edu	37	9	104357001	104357001	+	Intron	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:104357001C>G	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.G71A	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTCCACTTCTCCATCACCGTC	0.577																																						uc004bbr.2		NaN																	0				ovary(1)|skin(1)	2						c.(211-213)GGA>GCA		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						95.0	93.0	94.0					9																	104357001		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357001C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15359G>C	9.37:g.104357001C>G						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	p.G71A	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	283	-		Acute lymphoblastic leukemia(62;0.0527)	68			EF-hand 2.|2.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.212G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948258	0.53186	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	D	0.83914	-1.78	3.8	3.8	0.43715	EF-hand-like domain (1);	0.000000	0.39407	N	0.001377	D	0.91898	0.7435	M	0.91300	3.195	0.47698	D	0.999492	D	0.69078	0.997	D	0.68765	0.96	D	0.93483	0.6829	10	0.87932	D	0	-13.5591	13.968	0.64221	0.0:1.0:0.0:0.0	.	68	Q96LZ3	CANB2_HUMAN	A	71	ENSP00000363939:G71A	ENSP00000363939:G71A	G	-	2	0	PPP3R2	103396822	1.000000	0.71417	0.029000	0.17559	0.099000	0.18886	5.779000	0.68948	2.399000	0.81585	0.563000	0.77884	GGA		0.577	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1				15	86	0	0	0	0.00245	0	15	86		
CNTRL	11064	broad.mit.edu	37	9	123932082	123932082	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:123932082G>C	ENST00000373855.1	+	39	6524	c.6264G>C	c.(6262-6264)gaG>gaC	p.E2088D	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1536D|CNTRL_ENST00000238341.5_Missense_Mutation_p.E2088D			Q7Z7A1	CNTRL_HUMAN	centriolin	2088	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCCAGCTGGAGAAAAACCTTC	0.443																																						uc004bkx.1		NaN																	0					0						c.(6262-6264)GAG>GAC		centrosomal protein 110kDa							46.0	52.0	50.0					9																	123932082		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123932082G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6264G>C	9.37:g.123932082G>C	ENSP00000362962:p.Glu2088Asp					CEP110_uc004blb.1_Missense_Mutation_p.E757D|CEP110_uc010mvp.1_Missense_Mutation_p.E38D	p.E2088D	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			37	6295	+			2088			Required for centrosome localization.|Sufficient for interaction with HOOK2.|Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6264G>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782409	0.70222	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.38077	1.52;1.52;1.16	6.17	4.02	0.46733	.	.	.	.	.	T	0.52741	0.1753	M	0.63843	1.955	0.37653	D	0.922498	D	0.69078	0.997	D	0.72625	0.978	T	0.56553	-0.7960	9	0.35671	T	0.21	.	11.1322	0.48354	0.2033:0.0:0.7967:0.0	.	2088	Q7Z7A1	CNTRL_HUMAN	D	2088;2088;2088;844;245;1536;770	ENSP00000362962:E2088D;ENSP00000238341:E2088D;ENSP00000362956:E1536D	ENSP00000238341:E2088D	E	+	3	2	CNTRL	122971903	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.994000	0.40757	1.602000	0.50124	0.655000	0.94253	GAG		0.443	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1		NM_007018		3	81	0	0	0	0.004672	0	3	81		
OR1J2	26740	broad.mit.edu	37	9	125273495	125273495	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:125273495G>C	ENST00000335302.5	+	1	415	c.415G>C	c.(415-417)Gag>Cag	p.E139Q		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATGAGGGAAGAGCTCTGTGT	0.478																																						uc004bmj.1		NaN																	0				skin(3)|pancreas(1)|breast(1)	5						c.(415-417)GAG>CAG		olfactory receptor, family 1, subfamily J,							198.0	157.0	170.0					9																	125273495		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273495G>C		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.415G>C	9.37:g.125273495G>C	ENSP00000335575:p.Glu139Gln					OR1J2_uc011lyv.1_Missense_Mutation_p.E139Q	p.E139Q	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	1270	+			139			Cytoplasmic (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.415G>C	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	4.149	0.026117	0.08054	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.36340	1.26	4.72	-0.655	0.11439	GPCR, rhodopsin-like superfamily (1);	1.014930	0.07937	N	0.978568	T	0.12263	0.0298	N	0.03891	-0.335	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.29366	-1.0014	10	0.11485	T	0.65	.	1.283	0.02045	0.3879:0.1417:0.3261:0.1443	.	139	Q8NGS2	OR1J2_HUMAN	Q	139	ENSP00000335575:E139Q	ENSP00000335575:E139Q	E	+	1	0	OR1J2	124313316	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.559000	0.00431	-0.030000	0.13804	0.650000	0.86243	GAG		0.478	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1				8	51	0	0	0	0.00308	0	8	51		
GOLGA1	2800	broad.mit.edu	37	9	127693663	127693663	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:127693663C>G	ENST00000373555.4	-	4	491	c.158G>C	c.(157-159)aGa>aCa	p.R53T		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	53					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAGATCTTCTCTGGAGCTGCT	0.433																																						uc004bpc.2		NaN																	0				ovary(1)	1						c.(157-159)AGA>ACA		golgin 97							122.0	117.0	119.0					9																	127693663		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127693663C>G	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.158G>C	9.37:g.127693663C>G	ENSP00000362656:p.Arg53Thr					GOLGA1_uc010mwt.1_Missense_Mutation_p.R53T	p.R53T	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			4	500	-			53			Potential.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.158G>C	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839619	0.91117	.	.	ENSG00000136935	ENST00000373555;ENST00000421514	T;T	0.17370	2.97;2.28	5.31	5.31	0.75309	.	0.311697	0.22445	U	0.059980	T	0.21921	0.0528	L	0.57536	1.79	0.58432	D	0.999995	P	0.49090	0.919	B	0.40256	0.324	T	0.02877	-1.1099	10	0.66056	D	0.02	-12.6915	18.1411	0.89639	0.0:1.0:0.0:0.0	.	53	Q92805	GOGA1_HUMAN	T	53	ENSP00000362656:R53T;ENSP00000396966:R53T	ENSP00000362656:R53T	R	-	2	0	GOLGA1	126733484	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.978000	0.76147	2.758000	0.94735	0.591000	0.81541	AGA		0.433	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1		NM_002077		19	87	0	0	0	0.010504	0	19	87		
SCAI	286205	broad.mit.edu	37	9	127734000	127734000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:127734000C>T	ENST00000336505.6	-	16	1581	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R531Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	508					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GTTGATTTTTCGAAGATATTC	0.408																																						uc004bpe.2		NaN																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1522-1524)CGA>CAA		suppressor of cancer cell invasion isoform 2							195.0	175.0	181.0					9																	127734000		1871	4111	5982	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127734000C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1523G>A	9.37:g.127734000C>T	ENSP00000336756:p.Arg508Gln					SCAI_uc004bpd.2_Missense_Mutation_p.R531Q|SCAI_uc010mwu.2_RNA	p.R508Q	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			16	1604	-			508					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1523G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931994	0.34096	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41400	1.0;1.0	4.94	4.94	0.65067	.	0.057618	0.64402	D	0.000003	T	0.36853	0.0982	L	0.37897	1.145	0.43250	D	0.995174	D;D	0.58268	0.982;0.978	P;P	0.45660	0.489;0.455	T	0.09975	-1.0650	10	0.09843	T	0.71	-8.4756	17.5387	0.87841	0.0:1.0:0.0:0.0	.	508;531	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	508;531	ENSP00000336756:R508Q;ENSP00000362650:R531Q	ENSP00000336756:R508Q	R	-	2	0	SCAI	126773821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.311000	0.59147	2.461000	0.83175	0.650000	0.86243	CGA		0.408	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3		NM_173690		24	96	0	0	0	0.003954	0	24	96		
SPTAN1	6709	broad.mit.edu	37	9	131388736	131388736	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:131388736G>A	ENST00000372731.4	+	48	6441	c.6331G>A	c.(6331-6333)Gag>Aag	p.E2111K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2116K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2116K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2111					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAAATGCAGAGGAGGACTT	0.567																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(6331-6333)GAG>AAG		spectrin, alpha, non-erythrocytic 1							119.0	123.0	122.0					9																	131388736		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388736G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6331G>A	9.37:g.131388736G>A	ENSP00000361816:p.Glu2111Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E2116K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2091K|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	p.E2111K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			48	6444	+			2111			Spectrin 22.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6331G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962211	0.92791	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.57273	0.41;0.41;0.41	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	M	0.62016	1.91	0.80722	D	1	D;D;D	0.89917	0.998;0.974;1.0	D;D;D	0.87578	0.997;0.953;0.998	T	0.73279	-0.4033	10	0.72032	D	0.01	.	19.798	0.96494	0.0:0.0:1.0:0.0	.	2091;2116;2111	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	2116;2111;2116;2091;360	ENSP00000350882:E2116K;ENSP00000361816:E2111K;ENSP00000361824:E2116K	ENSP00000350882:E2116K	E	+	1	0	SPTAN1	130428557	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.476000	0.97823	2.677000	0.91161	0.563000	0.77884	GAG		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		18	137	0	0	0	0.00499	0	18	137		
CARD9	64170	broad.mit.edu	37	9	139266398	139266398	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:139266398C>T	ENST00000371732.5	-	2	298	c.133G>A	c.(133-135)Gag>Aag	p.E45K	CARD9_ENST00000371734.3_Missense_Mutation_p.E45K|CARD9_ENST00000315908.7_Missense_Mutation_p.E45K	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	45	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTCCTCATCATCGGGG	0.637																																						uc004chg.3		NaN																	0				pancreas(1)|lung(1)|skin(1)	3						c.(133-135)GAG>AAG		caspase recruitment domain protein 9 isoform 1							173.0	157.0	162.0					9																	139266398		2203	4300	6503	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139266398C>T	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.133G>A	9.37:g.139266398C>T	ENSP00000360797:p.Glu45Lys					CARD9_uc011mdw.1_Missense_Mutation_p.E45K|CARD9_uc011mdx.1_5'UTR|CARD9_uc010nbj.2_Missense_Mutation_p.E45K	p.E45K	NM_052813	NP_434700	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	2	299	-		Myeloproliferative disorder(178;0.0511)	45			CARD.		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.133G>A	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507105	0.96386	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24538	1.85;1.85;1.85	4.88	4.88	0.63580	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.60984	-0.7154	10	0.59425	D	0.04	-35.2605	17.1808	0.86854	0.0:1.0:0.0:0.0	.	45;45;45	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	K	45	ENSP00000360799:E45K;ENSP00000360797:E45K;ENSP00000323719:E45K	ENSP00000323719:E45K	E	-	1	0	CARD9	138386219	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	7.128000	0.77217	2.530000	0.85305	0.549000	0.68633	GAG		0.637	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1		NM_052813		30	161	0	0	0	0.00632	0	30	161		
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr9:139741083C>T	ENST00000436881.1	+	1	2217	c.2217C>T	c.(2215-2217)atC>atT	p.I739I	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739										endometrium(2)|large_intestine(1)|lung(6)	9						TCTCGCGCATCGCGCGTGTCG	0.706																																						uc011meh.1		NaN																	0					0						c.(2215-2217)ATC>ATT		chromosome 9 open reading frame 172							9.0	11.0	10.0					9																	139741083		1837	4006	5843	SO:0001819	synonymous_variant	389813							g.chr9:139741083C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2217C>T	9.37:g.139741083C>T						PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	p.I739I	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	2217	+			739						Silent	SNP	ENST00000436881.1	37	c.2217C>T	CCDS48059.1																																																																																				0.706	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001080482		9	9	0	0	0	0.004482	0	9	9		
PHEX	5251	broad.mit.edu	37	X	22056609	22056609	+	Silent	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:22056609C>T	ENST00000379374.4	+	2	706	c.141C>T	c.(139-141)ctC>ctT	p.L47L	PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Silent_p.L47L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	47					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCTTAAGTCTCCAAGCTAAAC	0.453																																						uc004dah.2		NaN																	0				ovary(2)|lung(1)	3						c.(139-141)CTC>CTT		phosphate-regulating neutral endopeptidase							295.0	265.0	275.0					X																	22056609		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22056609C>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.141C>T	X.37:g.22056609C>T						PHEX_uc011mjr.1_Silent_p.L47L|PHEX_uc011mjs.1_5'UTR	p.L47L	NM_000444	NP_000435	P78562	PHEX_HUMAN			2	344	+			47			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.141C>T	CCDS14204.1																																																																																				0.453	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1		NM_000444		40	176	0	0	0	0.007835	0	40	176		
PTCHD1	139411	broad.mit.edu	37	X	23412194	23412194	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:23412194G>C	ENST00000379361.4	+	3	3419	c.2559G>C	c.(2557-2559)aaG>aaC	p.K853N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	853					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACCCTCTAAGAAAAAAAGGA	0.403																																						uc004dal.3		NaN																	0				ovary(4)|kidney(1)|skin(1)	6						c.(2557-2559)AAG>AAC		patched domain containing 1							92.0	94.0	93.0					X																	23412194		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23412194G>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2559G>C	X.37:g.23412194G>C	ENSP00000368666:p.Lys853Asn						p.K853N	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2567	+			853					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2559G>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146242	0.37923	.	.	ENSG00000165186	ENST00000379361	D	0.95756	-3.8	4.54	2.76	0.32466	.	0.052952	0.85682	D	0.000000	D	0.91140	0.7210	L	0.29908	0.895	0.37593	D	0.92027	D	0.53885	0.963	P	0.47402	0.546	D	0.86957	0.2089	10	0.19147	T	0.46	.	8.0324	0.30472	0.263:0.0:0.737:0.0	.	853	Q96NR3	PTHD1_HUMAN	N	853	ENSP00000368666:K853N	ENSP00000368666:K853N	K	+	3	2	PTCHD1	23322115	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.536000	0.60636	0.317000	0.23160	0.436000	0.28706	AAG		0.403	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2		NM_173495		38	78	0	0	0	0.00623	0	38	78		
FAM47C	442444	broad.mit.edu	37	X	37029100	37029100	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:37029100G>C	ENST00000358047.3	+	1	2669	c.2617G>C	c.(2617-2619)Gac>Cac	p.D873H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	873										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAGTCTGTTTGACTTTACCCC	0.458																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(2617-2619)GAC>CAC		hypothetical protein LOC442444							121.0	113.0	116.0					X																	37029100		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029100G>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2617G>C	X.37:g.37029100G>C	ENSP00000367913:p.Asp873His						p.D873H	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2631	+			873					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2617G>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	9.915	1.210483	0.22289	.	.	ENSG00000198173	ENST00000358047	T	0.66638	-0.22	0.829	0.829	0.18847	.	.	.	.	.	T	0.78585	0.4306	M	0.80746	2.51	0.09310	N	1	D	0.71674	0.998	D	0.67382	0.951	T	0.65245	-0.6215	8	0.87932	D	0	.	.	.	.	.	873	Q5HY64	FA47C_HUMAN	H	873	ENSP00000367913:D873H	ENSP00000367913:D873H	D	+	1	0	FAM47C	36939021	0.004000	0.15560	0.005000	0.12908	0.010000	0.07245	0.737000	0.26144	0.681000	0.31386	0.277000	0.19347	GAC		0.458	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		8	133	0	0	0	0.004482	0	8	133		
RPGR	6103	broad.mit.edu	37	X	38150241	38150241	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:38150241A>C	ENST00000339363.3	-	13	1710	c.1543T>G	c.(1543-1545)Tta>Gta	p.L515V	RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.L453V|RPGR_ENST00000378505.2_Missense_Mutation_p.L515V|RPGR_ENST00000318842.7_Missense_Mutation_p.L515V|RPGR_ENST00000342811.3_Missense_Mutation_p.L515V			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	515					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GATAATTTTAATGACTTTTCA	0.239																																						uc004ded.1		NaN																	0				ovary(1)	1						c.(1543-1545)TTA>GTA		retinitis pigmentosa GTPase regulator isoform C							65.0	59.0	61.0					X																	38150241		2201	4294	6495	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38150241A>C	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1543T>G	X.37:g.38150241A>C	ENSP00000343671:p.Leu515Val					RPGR_uc004deb.2_Missense_Mutation_p.L515V|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA	p.L515V	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			13	1711	-			515					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1543T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.997|8.997	0.979084|0.979084	0.18812|0.18812	.|.	.|.	ENSG00000156313|ENSG00000156313	ENST00000494707|ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	.|T;T;T;T;T	.|0.48522	.|2.35;2.53;2.53;0.98;0.81	5.16|5.16	-0.335|-0.335	0.12662|0.12662	.|.	.|0.589709	.|0.14920	.|N	.|0.290725	T|T	0.49762|0.49762	0.1576|0.1576	L|L	0.58810|0.58810	1.83|1.83	0.09310|0.09310	N|N	1|1	.|D;D	.|0.61080	.|0.989;0.987	.|P;P	.|0.58172	.|0.804;0.834	T|T	0.42241|0.42241	-0.9463|-0.9463	5|10	.|0.62326	.|D	.|0.03	.|.	1.4813|1.4813	0.02437|0.02437	0.5491:0.1436:0.1662:0.1411|0.5491:0.1436:0.1662:0.1411	.|.	.|515;515	.|E9PE28;Q92834-2	.|.;.	S|V	37|515;453;515;515;515	.|ENSP00000343671:L515V;ENSP00000308783:L453V;ENSP00000322219:L515V;ENSP00000339531:L515V;ENSP00000367766:L515V	.|ENSP00000308783:L453V	I|L	-|-	2|1	0|2	RPGR|RPGR	38035185|38035185	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	1.235000|1.235000	0.32671|0.32671	-0.437000|-0.437000	0.07243|0.07243	-0.336000|-0.336000	0.08194|0.08194	ATT|TTA		0.239	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000328		6	30	0	0	0	0.001984	0	6	30		
JADE3	9767	broad.mit.edu	37	X	46884244	46884244	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:46884244G>C	ENST00000218343.4	+	5	701	c.403G>C	c.(403-405)Gtt>Ctt	p.V135L	PHF16_ENST00000397189.1_Missense_Mutation_p.V135L	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGCAGCATCTGTTTGCCGCTA	0.468																																						uc004dgx.2		NaN																	0					0						c.(403-405)GTT>CTT		PHD finger protein 16							144.0	112.0	123.0					X																	46884244		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46884244G>C																												ENST00000218343.4:c.403G>C	X.37:g.46884244G>C	ENSP00000218343:p.Val135Leu					PHF16_uc004dgy.2_Missense_Mutation_p.V135L	p.V135L	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			5	454	+			135						Missense_Mutation	SNP	ENST00000218343.4	37	c.403G>C	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276999	0.40294	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343	T;T;T	0.43294	0.95;0.95;0.95	5.99	2.87	0.33458	Enhancer of polycomb-like, N-terminal (1);	0.352881	0.29940	N	0.010810	T	0.32852	0.0843	L	0.50333	1.59	0.28304	N	0.922982	B	0.09022	0.002	B	0.15870	0.014	T	0.25676	-1.0125	10	0.19590	T	0.45	.	8.6003	0.33740	0.4283:0.0:0.5717:0.0	.	135	Q92613	JADE3_HUMAN	L	135	ENSP00000391009:V135L;ENSP00000380373:V135L;ENSP00000218343:V135L	ENSP00000218343:V135L	V	+	1	0	PHF16	46769188	0.641000	0.27251	0.231000	0.23993	0.727000	0.41649	1.033000	0.30191	0.155000	0.19261	0.600000	0.82982	GTT		0.468	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1				18	52	0	0	0	0.007413	0	18	52		
RRAGB	10325	broad.mit.edu	37	X	55755751	55755751	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:55755751G>T	ENST00000262850.7	+	5	778	c.335G>T	c.(334-336)cGa>cTa	p.R112L	RRAGB_ENST00000374941.4_Missense_Mutation_p.R84L	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TCTCATGTTCGATTTCTGGGA	0.388																																						uc004dup.2		NaN																	0					0						c.(334-336)CGA>CTA		Ras-related GTP binding B long isoform							210.0	168.0	183.0					X																	55755751		2203	4300	6503	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55755751G>T	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.335G>T	X.37:g.55755751G>T	ENSP00000262850:p.Arg112Leu					RRAGB_uc004duq.2_Missense_Mutation_p.R84L	p.R112L	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN			5	986	+			112						Missense_Mutation	SNP	ENST00000262850.7	37	c.335G>T	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	g	18.51	3.639502	0.67244	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.66460	-0.21;-0.16	5.03	2.22	0.28083	.	0.138632	0.49305	N	0.000155	T	0.79227	0.4410	M	0.87971	2.92	0.80722	D	1	D;D	0.64830	0.982;0.994	D;D	0.68483	0.943;0.958	T	0.75952	-0.3136	10	0.87932	D	0	-0.1139	5.4133	0.16360	0.1836:0.0:0.6554:0.161	.	84;112	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	L	84;46;112	ENSP00000364077:R84L;ENSP00000410630:R46L	ENSP00000262850:R112L	R	+	2	0	RRAGB	55772476	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.172000	0.71932	0.107000	0.17824	0.597000	0.82753	CGA		0.388	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1		NM_016656		22	62	1	0	1.22574e-08	0.014323	1.31653e-08	22	62		
GDPD2	54857	broad.mit.edu	37	X	69646848	69646848	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:69646848G>A	ENST00000374382.3	+	8	940	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	GDPD2_ENST00000453994.2_Missense_Mutation_p.R230Q|GDPD2_ENST00000538649.1_Missense_Mutation_p.R151Q|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.R151Q	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	230	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.R230Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GTGGGACACCGAGGGGCCCCC	0.612																																						uc004dyh.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(688-690)CGA>CAA		osteoblast differentiation promoting factor							47.0	42.0	44.0					X																	69646848		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69646848G>A	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.689G>A	X.37:g.69646848G>A	ENSP00000363503:p.Arg230Gln					GDPD2_uc010nkx.1_Missense_Mutation_p.R230Q|GDPD2_uc010nky.1_Missense_Mutation_p.R16Q|GDPD2_uc011mpk.1_Missense_Mutation_p.R230Q|GDPD2_uc011mpl.1_Missense_Mutation_p.R151Q|GDPD2_uc011mpm.1_Missense_Mutation_p.R151Q	p.R230Q	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN			8	940	+	Renal(35;0.156)		230			GDPD.|Extracellular (Potential).		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.689G>A	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698665	0.88830	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.63	4.72	0.59763	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.64402	D	0.000005	T	0.79173	0.4401	H	0.95004	3.61	0.38493	D	0.948012	D;D;D;D	0.89917	1.0;1.0;0.995;1.0	D;D;D;D	0.91635	0.998;0.999;0.954;0.996	D	0.86176	0.1603	9	.	.	.	-6.9021	13.6702	0.62420	0.0:0.1517:0.8483:0.0	.	230;16;151;230	B4DVC9;B3KUI6;B4DRH4;Q9HCC8	.;.;.;GDPD2_HUMAN	Q	230;151;151;230	ENSP00000414019:R230Q;ENSP00000445982:R151Q;ENSP00000444601:R151Q;ENSP00000363503:R230Q	.	R	+	2	0	GDPD2	69563573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.982000	0.63825	2.351000	0.79841	0.600000	0.82982	CGA		0.612	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1		NM_017711		7	34	0	0	0	0.001984	0	7	34		
FOXO4	4303	broad.mit.edu	37	X	70321316	70321316	+	Silent	SNP	C	C	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:70321316C>A	ENST00000374259.3	+	2	1568	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	FOXO4_ENST00000341558.3_Silent_p.V357V	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	412					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCACGGGCGTCGGCCTGTGTC	0.617																																						uc004dys.1		NaN																	0				central_nervous_system(2)|prostate(1)	3						c.(1234-1236)GTC>GTA		forkhead box O4							32.0	33.0	33.0					X																	70321316		1900	4106	6006	SO:0001819	synonymous_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70321316C>A		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1236C>A	X.37:g.70321316C>A						FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.V357V	p.V412V	NM_005938	NP_005929	P98177	FOXO4_HUMAN			2	1589	+	Renal(35;0.156)		412					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	c.1236C>A	CCDS43969.1																																																																																				0.617	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1		NM_005938		6	29	1	0	0.00116845	0.001168	0.00121888	6	29		
MED12	9968	broad.mit.edu	37	X	70338701	70338701	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:70338701G>A	ENST00000374080.3	+	1	129	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MED12_ENST00000374102.1_Missense_Mutation_p.E33K|MED12_ENST00000333646.6_Missense_Mutation_p.E33K			Q93074	MED12_HUMAN	mediator complex subunit 12	33					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAAACAGAAGGAGGTGCGTTC	0.677			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(97-99)GAG>AAG		mediator complex subunit 12							14.0	14.0	14.0					X																	70338701		1810	4045	5855	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70338701G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.97G>A	X.37:g.70338701G>A	ENSP00000363193:p.Glu33Lys					MED12_uc011mpq.1_Missense_Mutation_p.E33K|MED12_uc004dyz.2_Missense_Mutation_p.E33K|MED12_uc004dza.2_5'Flank	p.E33K	NM_005120	NP_005111	Q93074	MED12_HUMAN			1	296	+	Renal(35;0.156)		33					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.97G>A	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.9|26.9	4.784690|4.784690	0.90282|0.90282	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072|ENST00000429213	T;T;T;T|.	0.73258|.	-0.73;-0.72;-0.73;-0.23|.	4.13|4.13	4.13|4.13	0.48395|0.48395	.|.	0.148358|.	0.43747|.	D|.	0.000535|.	T|T	0.72526|0.72526	0.3471|0.3471	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;P;P|.	0.55172|.	0.97;0.708;0.942|.	P;B;P|.	0.53518|.	0.728;0.332;0.685|.	T|T	0.73630|0.73630	-0.3922|-0.3922	10|5	0.87932|.	D|.	0|.	-9.9108|-9.9108	16.5123|16.5123	0.84289|0.84289	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	33;33;33|.	F5H3Y1;Q93074-3;Q93074|.	.;.;MED12_HUMAN|.	K|E	33;33;33;33;1|6	ENSP00000333125:E33K;ENSP00000363215:E33K;ENSP00000363193:E33K;ENSP00000414203:E1K|.	ENSP00000333125:E33K|.	E|G	+|+	1|2	0|0	MED12|MED12	70255426|70255426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.776000|0.776000	0.43924|0.43924	8.491000|8.491000	0.90468|0.90468	2.007000|2.007000	0.58848|0.58848	0.431000|0.431000	0.28591|0.28591	GAG|GGA		0.677	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		5	9	0	0	0	0.001168	0	5	9		
GPRASP2	114928	broad.mit.edu	37	X	101970821	101970821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:101970821C>T	ENST00000535209.1	+	4	1855	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	GPRASP2_ENST00000543253.1_Missense_Mutation_p.P342S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.P342S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	342						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGGGTTTTGCCTGGAGAAGA	0.448																																						uc004ejk.2		NaN																	0				ovary(1)	1						c.(1024-1026)CCT>TCT		G protein-coupled receptor associated sorting							102.0	98.0	99.0					X																	101970821		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101970821C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1024C>T	X.37:g.101970821C>T	ENSP00000437394:p.Pro342Ser					GPRASP2_uc004ejl.2_Missense_Mutation_p.P342S|GPRASP2_uc004ejm.2_Missense_Mutation_p.P342S|GPRASP2_uc011mrp.1_5'Flank	p.P342S	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	2358	+			342					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1024C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	1.497	-0.553073	0.03996	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.10099	2.91;2.91;2.91	4.2	1.2	0.21068	.	0.493602	0.17296	N	0.179477	T	0.09069	0.0224	L	0.58101	1.795	0.31848	N	0.622584	B	0.14805	0.011	B	0.10450	0.005	T	0.19031	-1.0318	10	0.22706	T	0.39	.	3.1672	0.06540	0.1731:0.5511:0.1655:0.1103	.	342	Q96D09	GASP2_HUMAN	S	342	ENSP00000437872:P342S;ENSP00000437394:P342S;ENSP00000339057:P342S	ENSP00000339057:P342S	P	+	1	0	GPRASP2	101857477	0.990000	0.36364	0.994000	0.49952	0.010000	0.07245	0.306000	0.19279	0.107000	0.17824	-0.229000	0.12294	CCT		0.448	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2		NM_138437		4	116	0	0	0	0.009096	0	4	116		
IL1RAPL2	26280	broad.mit.edu	37	X	105011463	105011463	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:105011463G>C	ENST00000372582.1	+	11	2626	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E624Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	624					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTATAAACATGAGATACCAGC	0.478																																						uc004elz.1		NaN																	0				breast(2)|ovary(1)	3						c.(1870-1872)GAG>CAG		interleukin 1 receptor accessory protein-like 2							127.0	121.0	123.0					X																	105011463		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011463G>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1870G>C	X.37:g.105011463G>C	ENSP00000361663:p.Glu624Gln						p.E624Q	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2626	+			624			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1870G>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	7.533	0.659146	0.14645	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04454	3.92;3.92;3.62	5.89	4.13	0.48395	.	0.632643	0.16010	N	0.233880	T	0.07324	0.0185	L	0.56769	1.78	0.47441	D	0.999429	B	0.14012	0.009	B	0.11329	0.006	T	0.09271	-1.0682	10	0.41790	T	0.15	.	11.0987	0.48161	0.1522:0.0:0.8478:0.0	.	624	Q9NP60	IRPL2_HUMAN	Q	624;624;229	ENSP00000361663:E624Q;ENSP00000344976:E624Q;ENSP00000445576:E229Q	ENSP00000344976:E624Q	E	+	1	0	IL1RAPL2	104898119	1.000000	0.71417	0.622000	0.29159	0.253000	0.25986	6.437000	0.73421	0.635000	0.30488	0.597000	0.82753	GAG		0.478	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1		NM_017416		9	118	0	0	0	0.004482	0	9	118		
RBMX2	51634	broad.mit.edu	37	X	129545341	129545341	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:129545341G>A	ENST00000305536.6	+	5	387	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	108	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAACTATCCGAGTGGATCAT	0.478																																						uc004evt.2		NaN																	0				breast(3)|ovary(1)	4						c.(322-324)CGA>CAA		RNA binding motif protein, X-linked 2							148.0	136.0	140.0					X																	129545341		1918	4108	6026	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129545341G>A	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.323G>A	X.37:g.129545341G>A	ENSP00000339090:p.Arg108Gln						p.R108Q	NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN			5	387	+			108			RRM.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.323G>A	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126692	0.77549	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.76448	-1.02	5.13	5.13	0.70059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.67953	2.075	0.80722	D	1	P	0.36412	0.552	B	0.34652	0.187	T	0.79579	-0.1745	10	0.66056	D	0.02	.	15.2568	0.73591	0.0:0.0:1.0:0.0	.	108	Q9Y388	RBMX2_HUMAN	Q	108	ENSP00000339090:R108Q	ENSP00000339090:R108Q	R	+	2	0	RBMX2	129373022	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.739000	0.74827	2.281000	0.76405	0.529000	0.55759	CGA		0.478	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1		NM_016024		8	89	0	0	0	0.00308	0	8	89		
GPR50	9248	broad.mit.edu	37	X	150349383	150349383	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:150349383C>G	ENST00000218316.3	+	2	1397	c.1328C>G	c.(1327-1329)tCt>tGt	p.S443C	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	443	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCCTCTGTCCATTTC	0.557																																						uc010ntg.1		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1327-1329)TCT>TGT		G protein-coupled receptor 50							245.0	256.0	252.0					X																	150349383		2099	4221	6320	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349383C>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1328C>G	X.37:g.150349383C>G	ENSP00000218316:p.Ser443Cys						p.S443C	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1463	+	Acute lymphoblastic leukemia(192;6.56e-05)		443			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1328C>G	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	4.861	0.160133	0.09287	.	.	ENSG00000102195	ENST00000218316	T	0.76186	-1.0	3.79	2.0	0.26442	.	0.244954	0.22335	N	0.061419	T	0.57125	0.2032	N	0.24115	0.695	0.26896	N	0.96722	B	0.15141	0.012	B	0.16722	0.016	T	0.52495	-0.8568	10	0.87932	D	0	-3.2192	6.4411	0.21851	0.0:0.7058:0.1825:0.1117	.	443	Q13585	MTR1L_HUMAN	C	443	ENSP00000218316:S443C	ENSP00000218316:S443C	S	+	2	0	GPR50	150100041	0.246000	0.23909	0.034000	0.17996	0.237000	0.25408	1.493000	0.35605	0.403000	0.25479	0.529000	0.55759	TCT		0.557	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1		NM_004224		8	371	0	0	0	0.00308	0	8	371		
PNMA5	114824	broad.mit.edu	37	X	152159943	152159943	+	Missense_Mutation	SNP	A	A	G	rs200533836		TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chrX:152159943A>G	ENST00000439251.1	-	2	638	c.200T>C	c.(199-201)aTt>aCt	p.I67T	PNMA5_ENST00000361887.5_Missense_Mutation_p.I67T|PNMA5_ENST00000452693.1_Missense_Mutation_p.I67T|PNMA5_ENST00000535214.1_Missense_Mutation_p.I67T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	67					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					agccagttcaatgaagactgc	0.517													A|||	1	0.000264901	0.0	0.0	3775	,	,		14274	0.0		0.0	False		,,,				2504	0.001					uc010ntw.2		NaN																	0				ovary(1)|skin(1)	2						c.(199-201)ATT>ACT		paraneoplastic antigen like 5							150.0	128.0	135.0					X																	152159943		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159943A>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.200T>C	X.37:g.152159943A>G	ENSP00000388850:p.Ile67Thr					PNMA5_uc004fha.3_Missense_Mutation_p.I67T|PNMA5_uc010ntx.2_Missense_Mutation_p.I67T|PNMA5_uc004fgy.3_Missense_Mutation_p.I67T	p.I67T	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	539	-	Acute lymphoblastic leukemia(192;6.56e-05)		67					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.200T>C	CCDS14718.1	158	0.09523809523809523	57	0.11585365853658537	20	0.055248618784530384	31	0.054385964912280704	59	0.07783641160949868	A	7.768	0.706879	0.15239	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693;ENST00000437210	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	3.04	3.04	0.35103	.	.	.	.	.	T	0.00241	0.0007	L	0.47716	1.5	0.09310	N	1	B	0.31790	0.34	B	0.40901	0.343	T	0.27297	-1.0078	9	0.72032	D	0.01	-0.1048	6.9873	0.24735	1.0:0.0:0.0:0.0	.	67	Q96PV4	PNMA5_HUMAN	T	67	ENSP00000354834:I67T;ENSP00000445775:I67T;ENSP00000388850:I67T;ENSP00000392342:I67T;ENSP00000391130:I67T	ENSP00000354834:I67T	I	-	2	0	PNMA5	151910599	0.004000	0.15560	0.028000	0.17463	0.118000	0.20060	1.932000	0.40143	1.456000	0.47831	0.430000	0.28490	ATT		0.517	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1		NM_052926		29	117	0	0	0	0.00632	0	29	117		
SPAG17	200162	broad.mit.edu	37	1	118640369	118640379	+	Frame_Shift_Del	DEL	AGATTTGTTTC	AGATTTGTTTC	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr1:118640369_118640379delAGATTTGTTTC	ENST00000336338.5	-	7	990_1000	c.925_935delGAAACAAATCT	c.(925-936)gaaacaaatctcfs	p.ETNL309fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	309						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AACATCAAAGAGATTTGTTTCAGGTTTCTCA	0.374																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(925-936)GAAACAAATCTCfs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640369_118640379delAGATTTGTTTC		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.925_935delGAAACAAATCT	1.37:g.118640369_118640379delAGATTTGTTTC	ENSP00000337804:p.Glu309fs						p.E309fs	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	993_1003	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	309_312					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.925_935delGAAACAAATCT	CCDS899.1																																																																																				0.374	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		17	37	NaN	NaN	NaN	NaN	NaN	17	37	---	---
ZCCHC8	55596	broad.mit.edu	37	12	122958340	122958340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr12:122958340delC	ENST00000336229.4	-	14	1958	c.1828delG	c.(1828-1830)gaafs	p.E610fs	ZCCHC8_ENST00000538116.1_Frame_Shift_Del_p.E221fs|ZCCHC8_ENST00000536306.1_Frame_Shift_Del_p.E372fs|ZCCHC8_ENST00000543897.1_Frame_Shift_Del_p.E372fs	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	610					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TCTGCTTTTTCCTTCTGACAA	0.493																																						uc001ucn.2		NaN																	0					0						c.(1828-1830)GAAfs		zinc finger, CCHC domain containing 8							147.0	144.0	145.0					12																	122958340		1927	4133	6060	SO:0001589	frameshift_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958340delC	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1828delG	12.37:g.122958340delC	ENSP00000337313:p.Glu610fs					ZCCHC8_uc001ucl.2_Frame_Shift_Del_p.E221fs|ZCCHC8_uc001ucm.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxp.2_Frame_Shift_Del_p.E372fs|ZCCHC8_uc009zxq.2_Frame_Shift_Del_p.E372fs	p.E610fs	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	1959	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		610					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Frame_Shift_Del	DEL	ENST00000336229.4	37	c.1828delG																																																																																					0.493	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017612		7	262	NaN	NaN	NaN	NaN	NaN	7	262	---	---
ARHGAP27	201176	broad.mit.edu	37	17	43473589	43473589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr17:43473589delG	ENST00000428638.1	-	14	2234	c.2235delC	c.(2233-2235)cgcfs	p.R745fs	ARHGAP27_ENST00000532891.2_Frame_Shift_Del_p.R723fs|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000528384.1_Frame_Shift_Del_p.R377fs|ARHGAP27_ENST00000442348.1_Frame_Shift_Del_p.R718fs|ARHGAP27_ENST00000376922.2_Frame_Shift_Del_p.R404fs|ARHGAP27_ENST00000532038.1_Frame_Shift_Del_p.R523fs|ARHGAP27_ENST00000455881.1_Frame_Shift_Del_p.R404fs			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	745	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCACCTTATAGCGTAGCTTCT	0.647																																						uc002iix.2		NaN																	0					0						c.(1210-1212)CGCfs		Rho GTPase activating protein 27 isoform a							82.0	74.0	76.0					17																	43473589		2203	4300	6503	SO:0001589	frameshift_variant	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43473589delG	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2235delC	17.37:g.43473589delG	ENSP00000403323:p.Arg745fs					ARHGAP27_uc010dak.2_Frame_Shift_Del_p.R377fs	p.R404fs	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN			14	1661	-	Renal(3;0.0405)		745			Rho-GAP.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Frame_Shift_Del	DEL	ENST00000428638.1	37	c.1212delC																																																																																					0.647	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding			NM_199282		32	57	NaN	NaN	NaN	NaN	NaN	32	57	---	---
TSSC1	7260	broad.mit.edu	37	2	3197914	3197915	+	In_Frame_Ins	INS	-	-	CAT			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:3197914_3197915insCAT	ENST00000382125.4	-	7	868_869	c.676_677insATG	c.(676-678)gcc>gATGcc	p.225_226insD	TSSC1_ENST00000398659.4_In_Frame_Ins_p.252_253insD|TSSC1_ENST00000478754.1_De_novo_Start_InFrame	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	225										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTGTCCGTGGGCATTCTCTATG	0.515																																					Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2		NaN																	0					0						c.(676-678)GCC>GATGCC		tumor suppressing subtransferable candidate 1																																				SO:0001652	inframe_insertion	7260						protein binding	g.chr2:3197914_3197915insCAT	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.674_676dupATG	2.37:g.3197915_3197917dupCAT	ENSP00000371559:p.Asn225_Ala226insAsp					TSSC1_uc002qxi.2_RNA	p.225_226insD	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	7	869_870	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	225_226			WD 3.		D6W4Y1|O43179|Q53S19|Q53SG2	In_Frame_Ins	INS	ENST00000382125.4	37	c.676_677insATG	CCDS1651.1																																																																																				0.515	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2		NM_003310		35	96	NaN	NaN	NaN	NaN	NaN	35	96	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						uc002syh.3		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(1918-1920)AAAfs		RW1 protein							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348	NP_056163	Q92545	TM131_HUMAN			18	2149	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542		8	261	NaN	NaN	NaN	NaN	NaN	8	261	---	---
VGLL4	9686	broad.mit.edu	37	3	11744444	11744444	+	Splice_Site	DEL	C	C	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr3:11744444delC	ENST00000273038.3	-	2	430		c.e2+1		VGLL4_ENST00000404339.1_Splice_Site	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial-like family member 4						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TCCTCACTTACGTTTTTCGTC	0.418																																						uc003bwf.2		NaN																	0				ovary(1)	1						c.e2+1		vestigial like 4 isoform b							61.0	62.0	62.0					3																	11744444		2203	4300	6503	SO:0001630	splice_region_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11744444delC	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000273038.3:c.64+1G>-	3.37:g.11744444delC						VGLL4_uc003bwg.2_Splice_Site	p.R22_splice	NM_014667	NP_055482	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	2	430	-								B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Splice_Site	DEL	ENST00000273038.3	37	c.64_splice	CCDS2606.1																																																																																				0.418	VGLL4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251950.2		NM_014667	Intron	13	16	NaN	NaN	NaN	NaN	NaN	13	16	---	---
HOXA1	3198	broad.mit.edu	37	7	27135004	27135010	+	Frame_Shift_Del	DEL	ATACGTA	ATACGTA	-			TCGA-BT-A20R-01A-12D-A16O-08	TCGA-BT-A20R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bbbfc3-0beb-4f91-92a1-081bff7c4a07	2c9954e9-6225-4fe3-b749-4812dd7cbe26	g.chr7:27135004_27135010delATACGTA	ENST00000343060.4	-	1	583_589	c.522_528delTACGTAT	c.(520-528)gctacgtatfs	p.ATY174fs	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_Intron|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	174					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGAGTTATTATACGTAGCCAGGGCCA	0.58																																						uc003sye.2		NaN																	0				ovary(3)	3						c.(520-528)GCTACGTATfs		homeobox A1 isoform a																																				SO:0001589	frameshift_variant	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135004_27135010delATACGTA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.522_528delTACGTAT	7.37:g.27135004_27135010delATACGTA	ENSP00000343246:p.Ala174fs					HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	p.A174fs	NM_005522	NP_005513	P49639	HXA1_HUMAN			1	616_622	-			174_176					A4D184|B2R8U7|O43363	Frame_Shift_Del	DEL	ENST00000343060.4	37	c.522_528delTACGTAT	CCDS5401.1																																																																																				0.580	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1				51	129	NaN	NaN	NaN	NaN	NaN	51	129	---	---
